ClinVar Miner

Variants from Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine

Location: United States — Primary collection method: research
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign association total
312 257 163 0 1 3 732

Gene and significance breakdown #

Total genes and gene combinations: 389
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign association total
SPAST 34 0 0 0 0 34
LRP6 2 5 7 0 0 14
DVL1 7 4 0 0 0 11
ACTG2 10 0 0 0 0 10
NIPBL 10 0 0 0 0 10
ARMC4 9 0 0 0 0 9
SLC30A6, SPAST 9 0 0 0 0 9
STAT3 9 0 0 0 0 9
TBC1D24 8 0 0 0 0 8
MFN2 4 3 0 0 0 7
RYR2 0 0 7 0 0 7
DICER1 6 0 0 0 0 6
DSTYK 0 0 6 0 0 6
DVL3 5 1 0 0 0 6
TBX6 6 0 0 0 0 6
​intergenic 4 1 0 0 0 5
ABCA4 1 4 0 0 0 5
ASPM 0 5 0 0 0 5
NR2F1 3 4 0 0 0 5
POGZ 5 0 0 0 0 5
RHBDF1 0 0 5 0 0 5
TNR 0 0 5 0 0 5
VPS13B 1 2 2 0 0 5
ZIC3 5 0 0 0 0 5
AHDC1 4 0 0 0 0 4
ARHGEF6, CD40LG, GPR101, RBMX, VGLL1 2 2 0 0 0 4
ARID1B 4 0 0 0 0 4
COPA 4 0 0 0 0 4
EMC1 1 1 3 0 0 4
FZD2 0 4 0 0 0 4
IGHMBP2 3 1 0 0 0 4
LRBA, MAB21L2 0 4 0 0 0 4
NODAL 1 2 1 0 0 4
PGM3 4 0 0 0 0 4
PRDM16 0 0 4 0 0 4
PRUNE1 0 4 0 0 0 4
SLC13A5 4 0 0 0 0 4
TNK2 0 1 3 0 0 4
UNC80 0 4 0 0 0 4
ANK2 0 0 3 0 0 3
ANTXR1 0 3 0 0 0 3
ASTN1 0 1 2 0 0 3
BMP7 0 0 3 0 0 3
CDH4 0 1 2 0 0 3
CHD1L 0 0 3 0 0 3
CRX 3 0 0 0 0 3
DDX3X 3 0 0 0 0 3
DHX30 3 0 0 0 0 3
GLDC 2 1 0 0 0 3
GRM7 0 3 0 0 0 3
HAL 0 0 0 0 3 3
JUP 0 1 2 0 0 3
KCNQ1 0 2 1 0 0 3
MECP2 3 0 0 0 0 3
MYBPC3 0 0 3 0 0 3
MYH7 0 2 1 0 0 3
REST 0 3 0 0 0 3
ROBO2 0 0 3 0 0 3
SMC1A 3 0 0 0 0 3
VCL 0 0 3 0 0 3
VRK1 3 0 0 0 0 3
ABCC9 0 1 1 0 0 2
ACTC1, LOC101928174 0 1 1 0 0 2
ACVR2B 0 0 2 0 0 2
AKAP9 0 0 2 0 0 2
ALG12 2 0 0 0 0 2
ANKLE2 1 1 0 0 0 2
ANOS1 0 0 2 0 0 2
AP4B1 0 2 0 0 0 2
ARHGEF6, BRS3, CD40LG, GPR101, HTATSF1, RBMX, VGLL1 0 2 0 0 0 2
ATAD3A 1 1 1 0 0 2
ATRX 0 2 0 0 0 2
CACNA1C 0 0 2 0 0 2
CACNA1H 0 2 0 0 0 2
CC2D1A 2 0 0 0 0 2
CDK10 0 2 0 0 0 2
CDK20 1 1 0 0 0 2
CSPP1 0 0 2 0 0 2
CTSA 2 0 0 0 0 2
DHX37 0 2 0 0 0 2
DNAJB2 1 1 0 0 0 2
DNM2 0 2 0 0 0 2
DPP6 0 0 2 0 0 2
DPY30, SPAST 2 0 0 0 0 2
DSP 0 0 2 0 0 2
EYA1 1 0 1 0 0 2
FAM172A, KIAA0825, NR2F1, POU5F2 0 2 0 0 0 2
FGD1 0 2 0 0 0 2
FLNA 0 1 1 0 0 2
FLNC 0 0 2 0 0 2
FNIP1 0 0 2 0 0 2
GALC 0 2 0 0 0 2
GNB5 2 0 0 0 0 2
GPHN, RDH11 2 0 0 0 0 2
GPIHBP1 2 0 0 0 0 2
GRIP1 0 2 0 0 0 2
HYDIN 0 0 2 0 0 2
IL7R 2 0 0 0 0 2
KCNH2 0 0 2 0 0 2
LAMA2 0 0 2 0 0 2
LAMA4 0 0 2 0 0 2
LAMA5 0 0 2 0 0 2
LINGO4 0 0 2 0 0 2
MACF1 0 0 2 0 0 2
MIPEP 2 0 0 0 0 2
MMP21 1 1 0 0 0 2
MPZ 1 1 0 0 0 2
MTO1 0 2 0 0 0 2
MYH6 0 1 1 0 0 2
NALCN 2 0 0 0 0 2
NGLY1 1 1 0 0 0 2
NRXN3 2 0 0 0 0 2
PAX2 1 0 1 0 0 2
PDGFRB 1 1 0 0 0 2
PGAP1 2 0 0 0 0 2
PLA2G6 0 2 0 0 0 2
PMP2 0 2 0 0 0 2
PMPCA 2 0 0 0 0 2
POLR1C 2 0 0 0 0 2
PTPRT 0 2 0 0 0 2
RAB28 2 0 0 0 0 2
RELN 0 0 2 0 0 2
RPS6KC1 0 2 0 0 0 2
RUBCN 2 0 0 0 0 2
SACS 0 2 0 0 0 2
SALL1 0 0 2 0 0 2
SCN5A 0 2 0 0 0 2
SH3TC2 1 1 0 0 0 2
SOHLH1 0 2 0 0 0 2
STIL 0 2 0 0 0 2
SURF1 2 0 0 0 0 2
SYNE1 0 2 0 0 0 2
TAF6 2 0 0 0 0 2
TTC39A 0 0 2 0 0 2
TTN 0 2 0 0 0 2
USP19 2 0 0 0 0 2
VARS 0 2 0 0 0 2
WNT5A 0 2 0 0 0 2
ZEB2 1 1 0 0 0 2
ZFYVE16 0 0 2 0 0 2
ZNF335 2 0 0 0 0 2
ZNF423 0 2 0 0 0 2
AAR2 0 1 0 0 0 1
AARS 1 0 0 0 0 1
ABCB7, ACSL4, ACTRT1, ADGRG4, AGTR2, AIFM1, AKAP14, AKAP4, ALAS2, ALG13, AMER1, AMMECR1, AMOT, APEX2, APLN, APOOL, AR, ARAF, ARHGAP36, ARHGEF6, ARHGEF9, ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX4, ARMCX5, ARMCX5-GPRASP2, ARMCX6, ARR3, ASB12, ATG4A, ATP1B4, ATP6AP2, ATP7A, ATRX, AWAT1, AWAT2, BCOR, BCORL1, BEX1, BEX2, BEX3, BEX4, BEX5, BHLHB9, BMP15, BRS3, BRWD3, BTK, C1GALT1C1, CACNA1F, CAPN6, CASK, CCDC120, CCDC160, CCDC22, CCNB3, CD40LG, CDK16, CDX4, CENPI, CFP, CHIC1, CHM, CHRDL1, CHST7, CITED1, CLCN5, CLDN2, COL4A5, COL4A6, COX7B, CPXCR1, CSTF2, CT45A1, CT45A2, CT45A3, CT45A5, CT45A6, CT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9, CT47B1, CT55, CT83, CUL4B, CXCR3, CXorf38, CXorf49, CXorf49B, CXorf56, CXorf65, CYBB, CYLC1, CYSLTR1, DACH2, DANT2, DCAF12L1, DCAF12L2, DCX, DDX3X, DGAT2L6, DGKK, DIAPH2, DIPK2B, DLG3, DMRTC1, DMRTC1B, DOCK11, DRP2, DUSP21, DYNLT3, EBP, EDA, EDA2R, EFHC2, EFNB1, ELF4, ELK1, ENOX2, ERAS, ERCC6L, ESX1, FAAH2, FAM104B, FAM120C, FAM122B, FAM122C, FAM133A, FAM155B, FAM156A, FAM156B, FAM199X, FAM47C, FGD1, FGF16, FHL1, FOXO4, FOXP3, FOXR2, FRMD7, FRMPD3, FTHL18, FTSJ1, FTX, FUNDC1, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GCNA, GDPD2, GJB1, GLA, GLOD5, GLRA4, GLUD2, GNL3L, GPC3, GPC4, GPKOW, GPR101, GPR119, GPR173, GPR174, GPR34, GPR82, GPRASP1, GPRASP2, GRIA3, GRIPAP1, GSPT2, GUCY2F, H2BFM, H2BFWT, HDAC6, HDAC8, HDX, HEPH, HMGN5, HNRNPH2, HPRT1, HS6ST2, HSD17B10, HTATSF1, HTR2C, HUWE1, HYPM, IGBP1, IGSF1, IL13RA1, IL13RA2, IL1RAPL2, IL2RG, INE1, INTS6L, IQSEC2, IRS4, ITGB1BP2, ITIH6, ITM2A, JADE3, JPX, KCND1, KCNE5, KDM5C, KDM6A, KIAA1210, KIF4A, KLF8, KLHL13, KLHL4, KRBOX4, LAMP2, LANCL3, LAS1L, LHFPL1, LINC01560, LONRF3, LPAR4, LRCH2, LUZP4, MAGED1, MAGED2, MAGED4, MAGED4B, MAGEE1, MAGEE2, MAGEH1, MAGIX, MAGT1, MAOA, MAOB, MAP7D3, MBNL3, MCTS1, MED12, MED14, MID1IP1, MID2, MIR106A, MIR19B2, MIR221, MIR222, MIR223, MIR424, MIR448, MIR502, MIR503, MIR532, MIR98, MIRLET7F2, MMGT1, MORC4, MORF4L2, MOSPD1, MPC1L, MSN, MTMR8, MTRNR2L10, NAP1L2, NAP1L3, NDP, NDUFA1, NDUFB11, NEXMIF, NHSL2, NKAP, NKRF, NLGN3, NONO, NOX1, NRK, NUDT10, NUDT11, NUP62CL, NXF2, NXF2B, NXF3, NXF5, NXT2, NYX, OCRL, OGT, OPHN1, OR13H1, OTC, OTUD5, OTUD6A, P2RY10, P2RY4, PABPC1L2A, PABPC1L2B, PABPC5, PAGE1, PAGE2, PAGE2B, PAGE3, PAGE4, PAGE5, PAK3, PBDC1, PCDH11X, PCDH19, PCSK1N, PDZD11, PFKFB1, PGAM4, PGK1, PGRMC1, PHF6, PHF8, PHKA1, PIH1D3, PIM2, PIN4, PJA1, PLAC1, PLP1, PLP2, PLS3, POF1B, PORCN, POU3F4, PPP1R3F, PQBP1, PRAF2, PRICKLE3, PRPS1, PRR32, PRRG1, PSMD10, PWWP3B, RAB33A, RAB40A, RAB40AL, RAB41, RAB9B, RADX, RAP2C, RBM10, RBM3, RBM41, RBMX, RBMX2, RBMXL3, RGN, RHOXF1, RHOXF2, RHOXF2B, RIBC1, RIPPLY1, RLIM, RNF113A, RNF128, RP2, RPA4, RPGR, RPL36A, RPL36A-HNRNPH2, RPL39, RPS4X, RPS6KA6, RRAGB, RTL3, RTL4, RTL5, RTL8A, RTL8B, RTL8C, RTL9, SAGE1, SASH3, SATL1, SEPTIN6, SERPINA7, SH2D1A, SH3BGRL, SHROOM4, SLC16A2, SLC25A14, SLC25A43, SLC25A5, SLC25A53, SLC35A2, SLC38A5, SLC6A14, SLC7A3, SLC9A6, SLC9A7, SMARCA1, SMC1A, SMIM10, SNORA11, SNX12, SOWAHD, SPACA5, SPACA5B, SPANXN5, SPIN2A, SPIN2B, SPIN3, SPIN4, SRPX, SRPX2, SSX1, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX7, STAG2, STARD8, STK26, SUV39H1, SYN1, SYP, SYTL4, SYTL5, TAF1, TAF7L, TAF9B, TBC1D25, TBC1D8B, TBX22, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCP11X2, TENM1, TENT5D, TEX11, TEX13A, TEX13B, TFDP3, TFE3, TGIF2LX, THOC2, TIMM17B, TIMM8A, TIMP1, TMEM164, TMEM255A, TMEM31, TMEM35A, TMSB15A, TMSB15B, TNMD, TRMT2B, TRO, TRPC5, TRPC5OS, TSC22D3, TSIX, TSPAN6, TSPAN7, TSPYL2, TSR2, UBA1, UBE2A, UBQLN2, UPF3B, UPRT, USP11, USP26, USP27X, USP51, USP9X, UTP14A, UXT, VGLL1, VSIG1, VSIG4, WAS, WDR13, WDR44, WDR45, WNK3, XAGE1A, XAGE1B, XAGE2, XAGE3, XAGE5, XIAP, XIST, XK, XKRX, XPNPEP2, YIPF6, ZBTB33, ZC3H12B, ZC4H2, ZCCHC12, ZCCHC13, ZCCHC18, ZDHHC15, ZDHHC9, ZIC3, ZMAT1, ZMYM3, ZNF157, ZNF182, ZNF280C, ZNF41, ZNF449, ZNF630, ZNF674, ZNF711, ZNF75D, ZNF81, ZXDA, ZXDB 1 0 0 0 0 1
ABHD12 1 0 0 0 0 1
ACO2, POLR3H 1 0 0 0 0 1
ACOT1, HEATR4 1 0 0 0 0 1
ACP6 0 1 0 0 0 1
ACTL6A 0 1 0 0 0 1
ACTL6B 0 1 0 0 0 1
ACTN2 0 0 1 0 0 1
ADCY6 0 1 0 0 0 1
AGBL2 0 1 0 0 0 1
AIFM1, RAB33A 0 1 0 0 0 1
AIMP1 1 0 0 0 0 1
AKT3, C1orf100, CEP170, LINC01347, LINC02774, LOC110120698, LOC111828504, LOC112577566, MIR4677, PLD5, SDCCAG8, ZBTB18 1 0 0 0 0 1
ALDH7A1 0 1 0 0 0 1
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 0 0 0 0 1
AMOT 0 1 0 0 0 1
ANK3 0 1 0 0 0 1
ANKRD11 1 0 0 0 0 1
ARHGAP21 0 1 0 0 0 1
ARHGEF10L 0 1 0 0 0 1
ARID1B, SNX9, TMEM242, ZDHHC14 1 0 0 0 0 1
ARSA 1 0 0 0 0 1
ASH2L 0 1 0 0 0 1
ASXL3 0 1 0 0 0 1
ATAD3A, ATAD3B 1 0 0 0 0 1
ATAD3A, ATAD3B, ATAD3C 1 0 0 0 0 1
ATP10A, GABRA5, GABRB3, GABRG3, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 1 0 0 0 0 1
ATP2B3 1 0 0 0 0 1
ATP6V1A 0 1 0 0 0 1
BCOR 0 1 0 0 0 1
BIRC6, LTBP1, NLRC4, SLC30A6, SPAST, TTC27, YIPF4 1 0 0 0 0 1
BIRC6, NLRC4, SLC30A6, SPAST, TTC27, YIPF4 1 0 0 0 0 1
BIRC6, NLRC4, SLC30A6, SPAST, YIPF4 1 0 0 0 0 1
BORCS5 0 1 0 0 0 1
C12orf57 1 0 0 0 0 1
C12orf60, GUCY2C 1 0 0 0 0 1
C12orf65 0 1 0 0 0 1
C19orf12 0 1 0 0 0 1
CACNA1A 1 0 0 0 0 1
CACNA1E 0 0 1 0 0 1
CACNA2D2 0 1 0 0 0 1
CASK 1 0 0 0 0 1
CDC5L 0 0 1 0 0 1
CDON 0 1 0 0 0 1
CELSR2 0 1 0 0 0 1
CEP85L 0 0 1 0 0 1
CEP97 0 1 0 0 0 1
CHD7 1 0 0 0 0 1
CINP 0 1 0 0 0 1
CLN6 0 1 0 0 0 1
CLP1 0 1 0 0 0 1
CNTNAP2 0 1 0 0 0 1
COL27A1 1 0 0 0 0 1
CORO1A 1 0 0 0 0 1
CPLANE1 0 1 0 0 0 1
CPLX1 0 1 0 0 0 1
DARS 0 1 0 0 0 1
DCAF6 0 1 0 0 0 1
DCX 0 1 0 0 0 1
DES 0 0 1 0 0 1
DHCR7 0 1 0 0 0 1
DLG4 0 1 0 0 0 1
DNAH5 0 1 0 0 0 1
DNAH7 1 0 0 0 0 1
DNAI1 0 1 0 0 0 1
DNAJB5 0 1 0 0 0 1
DOP1A, ME1, PGM3, PRSS35, RWDD2A, SNAP91, TPBG, UBE3D 1 0 0 0 0 1
DSCAML1 0 1 0 0 0 1
DYNC1H1 0 1 0 0 0 1
EBF3 1 0 0 0 0 1
EP300 0 1 0 0 0 1
EPB41L1 0 1 0 0 0 1
FAM222A 0 1 0 0 0 1
FARS2 1 0 0 0 0 1
FBN1 0 1 0 0 0 1
FBXL4 1 0 0 0 0 1
FOXP4 0 1 0 0 0 1
FREM1 0 0 1 0 0 1
GABRB2 0 1 0 0 0 1
GJA5 0 0 1 0 0 1
GJB1 0 1 0 0 0 1
GPC4 0 1 0 0 0 1
GPD1L 0 0 1 0 0 1
GPR161 0 1 0 0 0 1
GRID2 1 0 0 0 0 1
GRIN1 0 1 0 0 0 1
GRIN2B 0 1 0 0 0 1
GSPT2 1 0 0 0 0 1
GTF3C1 0 1 0 0 0 1
HADH 0 1 0 0 0 1
HDAC8 1 0 0 0 0 1
HELZ 0 1 0 0 0 1
HERC2 1 0 0 0 0 1
HEXB 1 0 0 0 0 1
HIBCH 1 0 0 0 0 1
HIVEP1 1 0 0 0 0 1
HKDC1 0 0 1 0 0 1
HNF1B 1 0 0 0 0 1
IGFBP4 0 1 0 0 0 1
IL17B, PCYOX1L 0 0 1 0 0 1
INA 0 1 0 0 0 1
INPPL1 0 0 1 0 0 1
IQSEC2 0 1 0 0 0 1
ISL1 0 0 1 0 0 1
ITGA7 0 1 0 0 0 1
ITPR1 0 1 0 0 0 1
JAKMIP1 1 0 0 0 0 1
KANK1 0 1 0 0 0 1
KAT14 0 1 0 0 0 1
KCND3 1 0 0 0 0 1
KCNJ2 0 0 1 0 0 1
KCNQ3 0 1 0 0 0 1
KCTD19 0 1 0 0 0 1
KDM2B 0 1 0 0 0 1
KDM5C 1 0 0 0 0 1
KIF23 0 1 0 0 0 1
KIF24 0 0 1 0 0 1
KIF5B 0 1 0 0 0 1
KLHL15 0 1 0 0 0 1
KMT2A 1 0 0 0 0 1
KMT2D 1 0 0 0 0 1
L1CAM 0 0 1 0 0 1
LAMC1 0 0 1 0 0 1
LARP7, MIR302CHG 0 1 0 0 0 1
LEMD2 1 0 0 0 0 1
LMNA 0 0 1 0 0 1
LOC101927142, NPAS2 0 1 0 0 0 1
LOC101927727, NXN 0 1 0 0 0 1
LOC106780803, TNXB 0 0 1 0 0 1
LOC108281134, SOX3 0 1 0 0 0 1
MAGED2 0 1 0 0 0 1
MAP2K2 1 0 0 0 0 1
MCPH1 0 1 0 0 0 1
MEF2C 0 0 1 0 0 1
MET 0 0 1 0 0 1
MHRT, MYH7 0 1 0 0 0 1
MICALL2 1 0 0 0 0 1
MIR33B, RAI1, SREBF1, TOM1L2 1 0 0 0 0 1
MLC1 1 0 0 0 0 1
MLLT1 0 1 0 0 0 1
MMACHC 0 1 0 0 0 1
MPP4 1 0 0 0 0 1
MPZ, SDHC 0 1 0 0 0 1
MRPS22 0 0 1 0 0 1
MUC21 0 0 0 1 0 1
MXRA8 0 1 0 0 0 1
MYH11, NDE1 0 0 1 0 0 1
MYH14 1 0 0 0 0 1
MYO5A 1 0 0 0 0 1
NAA10 1 0 0 0 0 1
NDRG1 1 0 0 0 0 1
NEBL 0 0 1 0 0 1
NLRC4, SLC30A6, SPAST 1 0 0 0 0 1
NSD1 1 0 0 0 0 1
NXN 0 1 0 0 0 1
OGDHL 0 1 0 0 0 1
OPA1 0 1 0 0 0 1
PAX3 0 0 1 0 0 1
PHF6 1 0 0 0 0 1
PIGN 0 1 0 0 0 1
PIK3CD 1 0 0 0 0 1
PITX2 0 0 1 0 0 1
PLCB1 0 1 0 0 0 1
PLEKHG2 0 1 0 0 0 1
POMT2 0 1 0 0 0 1
PORCN 1 0 0 0 0 1
PRICKLE1 0 1 0 0 0 1
PRKAG2 0 0 1 0 0 1
PROB1 0 0 1 0 0 1
PTCHD1 0 1 0 0 0 1
PTEN 0 0 1 0 0 1
PTPN11 0 1 0 0 0 1
PWWP2A, TTC1 0 1 0 0 0 1
RAC3 0 1 0 0 0 1
RAI2 0 0 1 0 0 1
RARS2 0 1 0 0 0 1
RBM20 0 0 1 0 0 1
RERE 0 1 0 0 0 1
RET 0 0 1 0 0 1
RIPPLY2 0 1 0 0 0 1
RNASEH2B 1 0 0 0 0 1
ROCK2 0 0 1 0 0 1
ROS1 0 1 0 0 0 1
RSRC2 0 1 0 0 0 1
SARS2 1 0 0 0 0 1
SBDS 1 0 0 0 0 1
SCN1B 1 0 0 0 0 1
SCNN1B 1 0 0 0 0 1
SETX 1 0 0 0 0 1
SH3PXD2B 0 1 0 0 0 1
SIX2 0 0 1 0 0 1
SIX5 0 0 1 0 0 1
SKP1 0 0 1 0 0 1
SLC18A2 0 1 0 0 0 1
SLC1A1, SPATA6L 0 1 0 0 0 1
SLC1A4 1 0 0 0 0 1
SLC25A16 0 1 0 0 0 1
SLC26A4 0 1 0 0 0 1
SLC30A7 1 0 0 0 0 1
SLC35A2 0 1 0 0 0 1
SLITRK5 0 1 0 0 0 1
SMAD2 0 0 1 0 0 1
SMARCA1 0 1 0 0 0 1
SMC3 1 0 0 0 0 1
SNAPIN 0 1 0 0 0 1
SNTA1 0 0 1 0 0 1
SNX14 0 1 0 0 0 1
SOX5 0 1 0 0 0 1
SPG11 0 1 0 0 0 1
SPTAN1 0 1 0 0 0 1
SPTLC3 0 1 0 0 0 1
SRD5A3 1 0 0 0 0 1
SUPT16H 0 0 1 0 0 1
SVIL 0 1 0 0 0 1
SYN3 1 0 0 0 0 1
SYTL2 1 0 0 0 0 1
TBX5 0 0 1 0 0 1
TCAP 0 0 1 0 0 1
TCF4 0 1 0 0 0 1
TFG 1 0 0 0 0 1
TGFBR2 0 0 1 0 0 1
TM4SF20 1 0 0 0 0 1
TMCO1 1 0 0 0 0 1
TMEM47 0 1 0 0 0 1
TNNT2 0 1 0 0 0 1
TNXB 0 0 1 0 0 1
TRAPPC11 1 0 0 0 0 1
TRIM2 0 1 0 0 0 1
TRPM4 0 0 1 0 0 1
TSC1 0 0 1 0 0 1
TTI1 0 1 0 0 0 1
TUBA1A 0 1 0 0 0 1
TUBB 0 0 1 0 0 1
TUBB3 0 1 0 0 0 1
TUT1 0 1 0 0 0 1
UBQLN1 0 1 0 0 0 1
UFSP2 0 1 0 0 0 1
UHMK1 0 1 0 0 0 1
ULK2 0 1 0 0 0 1
UPK3A 0 0 1 0 0 1
USP11 0 1 0 0 0 1
WWP1 0 0 1 0 0 1
YARS 0 1 0 0 0 1
ZBTB20 1 0 0 0 0 1
ZFP30 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 222
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance benign association total
Abnormality of brain morphology 0 90 0 0 0 90
Wolff-Parkinson-White pattern 1 15 69 0 0 85
Spastic paraplegia 4, autosomal dominant 49 0 0 0 0 49
Cerebral visual impairment and intellectual disability 3 15 0 0 0 18
Robinow syndrome, autosomal dominant 2 7 8 0 0 0 15
Cornelia de Lange syndrome 1 12 0 0 0 0 12
Smith-Magenis Syndrome-like 12 0 0 0 0 12
Congenital anomalies of kidney and urinary tract 0 1 9 0 0 10
Visceral myopathy 10 0 0 0 0 10
Autoimmune disease, multisystem, infantile-onset, 1 9 0 0 0 0 9
Parkinson disease 0 1 8 0 0 9
Primary ciliary dyskinesia 23 9 0 0 0 0 9
DOORS syndrome 8 0 0 0 0 8
Bosch-Boonstra-Schaaf optic atrophy syndrome 3 6 0 0 0 7
Charcot-Marie-Tooth disease, type 2A2A 4 3 0 0 0 7
Robinow syndrome 5 2 0 0 0 7
Spondylocostal dysostosis 5 7 0 0 0 0 7
Chromosome Xq26.3 duplication syndrome 2 4 0 0 0 6
Congenital anomalies of kidney and urinary tract 1, susceptibility to 0 0 6 0 0 6
Global developmental delay; Intellectual disability 0 6 0 0 0 6
Heterotaxy, visceral, X-linked 6 0 0 0 0 6
Microcephaly 1 5 0 0 0 6
Pineoblastoma 6 0 0 0 0 6
Polymicrogyria 0 0 6 0 0 6
Tooth agenesis 1 5 0 0 0 6
Blepharophimosis; Absent speech; Thick lower lip vermilion; Thin upper lip vermilion; Long eyelashes; Intellectual disability, moderate 5 0 0 0 0 5
Chromosome 17p13.1 deletion syndrome 4 1 0 0 0 5
Congenital diaphragmatic hernia 0 1 4 0 0 5
Immunodeficiency 23 5 0 0 0 0 5
Orofacial clefting 0 0 5 0 0 5
White-sutton syndrome 5 0 0 0 0 5
not specified 0 0 4 1 0 5
Abnormality of the corpus callosum 0 0 4 0 0 4
Autoimmune interstitial lung, joint, and kidney disease 4 0 0 0 0 4
Dextrocardia 0 0 4 0 0 4
Distal shortening of limbs 0 4 0 0 0 4
Epileptic encephalopathy, early infantile, 25 4 0 0 0 0 4
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0 4 0 0 0 4
Keratoconus 1 0 0 4 0 0 4
Microphthalmia/coloboma and skeletal dysplasia syndrome 0 4 0 0 0 4
Spinal muscular atrophy, distal, autosomal recessive, 1 3 1 0 0 0 4
Stargardt disease 1 0 4 0 0 0 4
not provided 2 2 0 0 0 4
Bull's eye maculopathy 3 0 0 0 0 3
Charcot-Marie-Tooth disease, demyelinating, type 1b 1 2 0 0 0 3
Delayed speech and language development; Sleep apnea; Muscular hypotonia 3 0 0 0 0 3
Epileptic encephalopathy 2 1 0 0 0 3
Gingival fibromatosis 1 0 3 0 0 0 3
Increased histidine 0 0 0 0 3 3
Mental retardation, X-linked 102 3 0 0 0 0 3
Odontotrichomelic syndrome 0 3 0 0 0 3
Pontocerebellar hypoplasia type 1A 3 0 0 0 0 3
Tooth agenesis; Orofacial clefting 1 0 2 0 0 3
Vesicoureteral reflux 2 0 0 3 0 0 3
Visceral heterotaxy 5, autosomal 0 2 1 0 0 3
ALG12-congenital disorder of glycosylation 2 0 0 0 0 2
Aarskog syndrome 0 2 0 0 0 2
Charcot-Marie-Tooth disease, dominant intermediate B 0 2 0 0 0 2
Charcot-Marie-Tooth disease, type 4C 1 1 0 0 0 2
Ciliary dyskinesia, primary, 5 0 0 2 0 0 2
Cohen syndrome 0 0 2 0 0 2
Combined deficiency of sialidase AND beta galactosidase 2 0 0 0 0 2
Combined oxidative phosphorylation deficiency 31 2 0 0 0 0 2
Cone-rod dystrophy 18 2 0 0 0 0 2
Congenital contractures of the limbs and face, hypotonia, and developmental delay 2 0 0 0 0 2
Cortical gyral simplification 0 0 2 0 0 2
Dandy-Walker syndrome; Global developmental delay; Hypoplasia of the corpus callosum; Cerebellar atrophy; Attention deficit hyperactivity disorder; Muscular hypotonia 0 2 0 0 0 2
Familial hypoplastic, glomerulocystic kidney 1 0 1 0 0 2
Global developmental delay; Hypoplasia of the corpus callosum; Abnormality of the cerebral white matter; Periventricular leukomalacia; Delayed myelination; Muscular hypotonia 0 2 0 0 0 2
Global developmental delay; Microcephaly 0 2 0 0 0 2
Global developmental delay; Nystagmus; Intellectual disability; Elbow flexion contracture; Knee flexion contracture; Cerebral hypomyelination; Muscular hypotonia 2 0 0 0 0 2
Global developmental delay; Seizures; Intellectual disability; CNS hypomyelination; Brain atrophy; Muscular hypotonia 0 2 0 0 0 2
Heterotaxy, visceral, 4, autosomal 0 0 2 0 0 2
Heterotaxy, visceral, 7, autosomal 1 1 0 0 0 2
Hyperlipoproteinemia, type ID 2 0 0 0 0 2
Infantile myofibromatosis 1 1 1 0 0 0 2
Intellectual developmental disorder with cardiac arrhythmia 2 0 0 0 0 2
Joubert syndrome 1 2 0 0 0 0 2
Joubert syndrome 21 0 0 2 0 0 2
Kallmann syndrome 1 0 0 2 0 0 2
Leigh syndrome 2 0 0 0 0 2
Leukodystrophy, hypomyelinating, 11 2 0 0 0 0 2
Lissencephaly 2 0 0 2 0 0 2
MECP2 duplication syndrome 2 0 0 0 0 2
Melnick-Fraser syndrome 1 0 1 0 0 2
Nonsyndromic hypergonadotropic hypogonadism 0 2 0 0 0 2
Peripheral neuropathy 0 1 1 0 0 2
Primary autosomal recessive microcephaly 10 2 0 0 0 0 2
Primary autosomal recessive microcephaly 5 0 2 0 0 0 2
Retinal dystrophy, juvenile cataracts, and short stature syndrome 2 0 0 0 0 2
Seizures; Hearing impairment; Obsessive-compulsive behavior; Attention deficit hyperactivity disorder 2 0 0 0 0 2
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 2 0 0 0 0 2
Short stature; Relative macrocephaly 2 0 0 0 0 2
Spinal muscular atrophy, distal, autosomal recessive, 5 1 1 0 0 0 2
Spinocerebellar ataxia, autosomal recessive 2 2 0 0 0 0 2
Townes-Brocks syndrome 1 0 0 2 0 0 2
Vesicoureteral reflux 8 0 0 2 0 0 2
Abnormal heart morphology 0 0 1 0 0 1
Aicardi Goutieres syndrome 2 1 0 0 0 0 1
Angioedema 1 0 0 0 0 1
Anomalous pulmonary venous return 0 0 1 0 0 1
Astigmatism; Epicanthus; Cryptorchidism; Hypertelorism; Esotropia; Global developmental delay; Retrognathia; Hypermetropia; Wide nasal bridge; Intellectual disability 1 0 0 0 0 1
Autistic disorder of childhood onset; Seizures; Delayed speech and language development 1 0 0 0 0 1
Benign familial neonatal seizures 2 0 1 0 0 0 1
Beta-hydroxyisobutyryl-CoA deacylase deficiency 1 0 0 0 0 1
Borjeson-Forssman-Lehmann syndrome 1 0 0 0 0 1
Branchiootorenal syndrome 2 0 0 1 0 0 1
Bull's eye maculopathy; Methylmalonic acidemia with homocystinuria 0 1 0 0 0 1
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G 0 1 0 0 0 1
CHARGE association 1 0 0 0 0 1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm 0 1 0 0 0 1
Cardiomyopathy 1 0 0 0 0 1
Cataract Hutterite type 1 0 0 0 0 1
Cerebellar ataxia 1 0 0 0 0 1
Cerebellar atrophy, visual impairment, and psychomotor retardation 1 0 0 0 0 1
Charcot-Marie-Tooth disease, axonal, type 2R 0 1 0 0 0 1
Charcot-Marie-Tooth disease, dominant intermediate C 0 1 0 0 0 1
Charcot-Marie-Tooth disease, type 2N 1 0 0 0 0 1
Charcot-Marie-Tooth disease, type 4D 1 0 0 0 0 1
Ciliary dyskinesia, primary, 3 0 1 0 0 0 1
Combined oxidative phosphorylation deficiency 14 1 0 0 0 0 1
Cone-rod dystrophy 3 1 0 0 0 0 1
Congenital disorder of deglycosylation 1 0 0 0 0 1
Congenital disorder of glycosylation type 1Q 1 0 0 0 0 1
Congenital muscular hypertrophy-cerebral syndrome 1 0 0 0 0 1
Congenital muscular hypertrophy-cerebral syndrome; Wiedemann-Steiner syndrome 1 0 0 0 0 1
Cornelia de Lange syndrome 3; Wiedemann-Steiner syndrome 1 0 0 0 0 1
Cornelia de Lange syndrome 5 1 0 0 0 0 1
Corpus callosum, partial agenesis of, X-linked 0 0 1 0 0 1
Cortical dysplasia, complex, with other brain malformations 1 0 1 0 0 0 1
Cortical dysplasia, complex, with other brain malformations 6 0 0 1 0 0 1
Cowchock syndrome 0 1 0 0 0 1
Cowden syndrome 1 0 0 1 0 0 1
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 1 0 0 0 0 1
Dextrocardia; Conotruncal defect 0 0 1 0 0 1
Duodenal atresia; Asplenia; Reduced number of intrahepatic bile ducts; Abnormal biliary tract morphology 1 0 0 0 0 1
Dystonia; Global developmental delay; Seizures; Nystagmus; Cerebellar cortical atrophy 1 0 0 0 0 1
Focal cortical dysplasia type II 0 0 1 0 0 1
Focal dermal hypoplasia 1 0 0 0 0 1
Frank Ter Haar syndrome 0 1 0 0 0 1
Generalized hypotonia 1 0 0 0 0 1
Global developmental delay; Feeding difficulties; Laryngeal hypoplasia; Ventricular septal defect 0 1 0 0 0 1
Global developmental delay; Hearing impairment; Sleep disturbance; Muscular hypotonia of the trunk; Delayed speech and language development; Microcephaly; Strabismus 1 0 0 0 0 1
Global developmental delay; Hydronephrosis; Vesicoureteral reflux; Intellectual disability; Renal atrophy; Attention deficit hyperactivity disorder 1 0 0 0 0 1
Global developmental delay; Microcephaly; Carious teeth; Intellectual disability; Abnormality of the cerebral cortex; Skeletal muscle atrophy; Oral-pharyngeal dysphagia; Muscular hypotonia 1 0 0 0 0 1
Global developmental delay; Microcephaly; Infantile spasms; Muscular hypotonia 0 1 0 0 0 1
Global developmental delay; Patent foramen ovale; Hypoplasia of the corpus callosum; Anteriorly placed anus; Microcephaly; Cerebellar malformation; Macule; Ventricular septal defect 0 1 0 0 0 1
Global developmental delay; Seizures 0 1 0 0 0 1
Global developmental delay; Seizures; High palate; Wide nasal bridge; Strabismus; Intellectual disability; Generalized hypotonia 1 0 0 0 0 1
Global developmental delay; Seizures; Hypoplasia of the corpus callosum; Brain atrophy; Attention deficit hyperactivity disorder 0 1 0 0 0 1
Global developmental delay; Seizures; Hypoplasia of the corpus callosum; Brain atrophy; Muscular hypotonia 0 1 0 0 0 1
Global developmental delay; Seizures; Polymicrogyria; Microcephaly; Agenesis of corpus callosum; Abnormality of the cerebral cortex 0 1 0 0 0 1
Global developmental delay; Seizures; Visual impairment; Generalized hypotonia; Cerebellar vermis atrophy 1 0 0 0 0 1
Global developmental delay; Short stature; Failure to thrive; Hirsutism; EEG abnormality; Microcephaly; Intellectual disability; Generalized hypotonia 1 0 0 0 0 1
Global developmental delay; Unsteady gait; Microcephaly; Carious teeth; Intellectual disability; Generalized joint laxity; Attention deficit hyperactivity disorder; Muscular hypotonia 1 0 0 0 0 1
Harel-Yoon syndrome 1 0 0 0 0 1
Hypertelorism; Global developmental delay; Cerebral atrophy; Short nose; Abnormal cortical gyration; Infantile spasms; Muscular hypotonia 0 1 0 0 0 1
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 1 0 0 0 0 1
Immunodeficiency 14 1 0 0 0 0 1
Immunodeficiency 8 1 0 0 0 0 1
Infantile cerebellar-retinal degeneration 1 0 0 0 0 1
Kartagener syndrome 0 1 0 0 0 1
Klippel-Feil syndrome 2, autosomal recessive 0 1 0 0 0 1
Lethal congenital contracture syndrome 8 0 1 0 0 0 1
Leukodystrophy, hypomyelinating 3 1 0 0 0 0 1
Limb-girdle muscular dystrophy, type 2S 1 0 0 0 0 1
Lissencephaly 0 0 1 0 0 1
Lissencephaly 3 0 1 0 0 0 1
Lissencephaly, X-linked 0 1 0 0 0 1
Megalencephalic leukoencephalopathy with subcortical cysts 1 1 0 0 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 1 0 0 0 0 1
Mental retardation, autosomal dominant 13 0 1 0 0 0 1
Mental retardation, autosomal dominant 6 0 1 0 0 0 1
Mental retardation, autosomal recessive 38 1 0 0 0 0 1
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 0 0 1 0 0 1
Metachromatic leukodystrophy 1 0 0 0 0 1
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 1 0 0 0 0 1
N-terminal acetyltransferase deficiency 1 0 0 0 0 1
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0 1 0 0 0 1
Neurogenic bladder; Renal dysplasia; Generalized hypotonia; Broad-based gait; Developmental regression 1 0 0 0 0 1
Neuropathy, hereditary motor and sensory, Okinawa type 1 0 0 0 0 1
Non-obstructive azoospermia 0 1 0 0 0 1
Noonan syndrome 1 0 1 0 0 0 1
Obesity; Global developmental delay; Autistic behavior; Seizures; Myopia; Strabismus 0 1 0 0 0 1
Opsismodysplasia 0 0 1 0 0 1
Orofaciodigital syndrome 6 0 1 0 0 0 1
Peripheral neuropathy, myopathy, hoarseness, and hearing loss 1 0 0 0 0 1
Periventricular nodular heterotopia 1 0 1 0 0 0 1
Pitt-Hopkins syndrome 0 1 0 0 0 1
Pituitary stalk interruption syndrome 0 1 0 0 0 1
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 1 0 0 0 0 1
Pontocerebellar hypoplasia, type 10 0 1 0 0 0 1
Prader-Willi syndrome 1 0 0 0 0 1
Primary ovarian failure 0 0 1 0 0 1
Primrose syndrome 1 0 0 0 0 1
Progressive myoclonus epilepsy with ataxia 0 1 0 0 0 1
Pseudoprimary hyperaldosteronism 1 0 0 0 0 1
Renal adysplasia 0 0 1 0 0 1
Renal coloboma syndrome 1 0 0 0 0 1
Robinow syndrome, autosomal dominant 3 0 1 0 0 0 1
Rubinstein-Taybi syndrome 2 0 1 0 0 0 1
Sandhoff disease 1 0 0 0 0 1
Schizoaffective disorder, depressive type 0 1 0 0 0 1
Seizures; Hypoplasia of the corpus callosum; Dyspnea; Abnormality of the basal ganglia; Abnormal muscle tone 1 0 0 0 0 1
Seizures; Microcephaly; Intellectual disability 0 1 0 0 0 1
Seizures; Short stature; Unsteady gait; Microcephaly; Strabismus; Oculomotor apraxia 1 0 0 0 0 1
Sensory neuropathy; Peripheral neuropathy 0 1 0 0 0 1
Shwachman syndrome 1 0 0 0 0 1
Skeletal myopathy; Peripheral neuropathy 0 1 0 0 0 1
Smith-Magenis syndrome 1 0 0 0 0 1
Sotos syndrome 1 1 0 0 0 0 1
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly 1 0 0 0 0 1
Specific language impairment 5 1 0 0 0 0 1
Spinocerebellar ataxia 19 1 0 0 0 0 1
Spinocerebellar ataxia 29 0 1 0 0 0 1
Spinocerebellar ataxia autosomal recessive 1 1 0 0 0 0 1
Spinocerebellar ataxia, autosomal recessive 18 1 0 0 0 0 1
Steel syndrome 1 0 0 0 0 1
Syndromic intellectual disability 1 0 0 0 0 1
Torticollis; Atrial septal defect; Inguinal hernia; Syncope; Coarse facial features; Broad thumb; Delayed speech and language development; Recurrent otitis media; Broad nasal tip; Umbilical hernia; Gastroesophageal reflux; Aplasia/Hypoplasia of the nails; Cleft anterior mitral valve leaflet 0 1 0 0 0 1
Wiedemann-Steiner syndrome 1 0 0 0 0 1
X-linked hereditary motor and sensory neuropathy 0 1 0 0 0 1

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