ClinVar Miner

Variants from Athena Diagnostics Inc

Location: United States — Primary collection method: clinical testing
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 total
1196 314 3125 1024 3554 9213

Gene and significance breakdown #

Total genes and gene combinations: 659
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TTN 2 4 242 51 152 451
SYNE1 8 5 216 42 38 309
PKD1 40 14 71 14 77 216
NOTCH3 80 7 26 13 35 161
TSC2 74 13 25 2 47 161
DMD 103 3 16 0 30 152
PLEC 0 0 65 46 33 144
CACNA1A 17 6 62 18 40 143
SACS 2 2 81 24 12 121
HSPG2 0 1 73 27 19 120
GCK 34 20 54 2 8 118
SETX 5 4 67 10 22 108
CACNA1H 0 0 20 11 68 99
SPTBN2 1 0 26 25 46 98
CLCN1 31 16 33 5 7 92
DYSF 22 2 34 11 15 84
GH-LCR, SCN4A 15 3 36 5 22 81
ADGRV1 1 0 16 14 45 76
POLG 5 1 42 13 7 68
ABCC8 17 3 25 4 18 67
LAMA2 4 0 30 10 21 65
COL4A4 9 11 10 2 30 62
HNF1A 20 4 20 2 16 62
ITPR1 0 1 21 4 34 60
CAPN3 31 5 13 0 10 59
SYNE2 0 0 28 12 17 57
ASPM 2 0 18 4 28 52
CASR 8 3 28 0 13 52
COL4A5 27 8 10 1 4 50
SPAST 29 4 15 0 2 50
TSC1 32 3 3 1 11 50
COL4A3, LOC654841 10 7 6 3 22 48
CACNA1S 2 0 8 2 34 46
COL1A1 15 2 5 0 24 46
NEB 0 1 12 13 19 45
ZFYVE26 2 0 12 7 24 45
GJB1 22 4 15 2 1 44
OPA1 14 5 12 1 12 44
EEF2 0 0 10 5 28 43
SPG11 9 2 10 7 15 43
VPS13B 1 1 22 9 10 43
RELN 0 0 17 10 15 42
ANKRD11 0 0 8 8 25 41
COL4A1 2 3 8 1 27 41
COQ8A 1 1 26 9 4 41
TGM6 0 1 18 10 12 41
GJB2 20 1 14 2 3 40
MFN2 10 4 18 4 4 40
ATM 3 1 9 8 17 38
DYNC1H1 0 0 4 5 29 38
HNF4A 5 2 15 1 15 38
VPS13A 1 0 20 8 9 38
POMT1 0 2 14 4 17 37
GRN 12 2 3 1 18 36
MPZ 19 5 7 0 5 36
COL6A3 0 1 5 0 29 35
TRPV4 5 0 8 1 21 35
KMT2D 0 0 10 5 19 34
SCN4A 1 0 6 1 26 34
SLC12A3 12 2 7 1 12 34
SPG7 9 1 9 3 10 32
COL1A2 12 0 3 1 15 31
PRX 4 0 9 5 12 30
WDR62 0 0 6 3 21 30
AP5Z1 0 1 15 6 7 29
GRM1 0 0 15 12 2 29
LOC102724058, SCN1A 18 0 6 0 5 29
SCN5A 0 0 4 4 21 29
ANO5 5 1 12 6 4 28
CLCNKB, LOC106501713 2 0 6 3 17 28
PSEN1 9 9 8 0 2 28
SCN1A 15 0 7 2 4 28
CYP11B1, LOC106799833 4 2 11 4 6 27
LMNA 5 3 8 2 9 27
NPHS1 4 0 9 1 13 27
PRKCG 1 1 16 1 8 27
RYR1 2 0 13 4 8 27
SPTAN1 1 0 6 9 11 27
ATP1A2 3 3 8 1 11 26
CNTNAP2 0 0 9 4 13 26
CYP21A2, LOC106780800 14 1 6 1 4 26
FLNC 0 1 3 0 22 26
GARS1 0 0 6 3 17 26
KIF1A 0 0 13 10 3 26
SCN1A, SCN9A 0 0 8 7 11 26
SH3TC2 4 1 12 4 5 26
TTBK2 0 0 11 9 6 26
ANO10 3 2 17 2 1 25
DNM2 2 0 8 3 12 25
FIG4 3 1 10 4 7 25
LOC105371049, PKD1 5 2 6 4 8 25
SZT2 0 0 9 2 14 25
ATP13A2 0 0 6 1 17 24
KCND3 0 0 11 4 9 24
AFG3L2 0 0 12 3 8 23
KCNT1 0 0 8 3 12 23
BRAT1 0 0 8 2 12 22
PKD2 9 2 4 0 7 22
RAI1 0 1 6 4 11 22
CASD1, SGCE 13 1 1 0 6 21
GLDC 0 1 5 3 12 21
HCN4 0 0 7 3 11 21
MRE11 1 1 14 3 2 21
POMT2 0 1 11 2 7 21
SHOX 1 0 9 2 9 21
SIL1 0 0 9 7 5 21
TDP1 0 2 13 5 1 21
ABCD1 4 2 10 0 4 20
COL18A1 0 1 9 2 8 20
DEPDC5 1 0 6 1 12 20
FKRP 3 0 6 4 7 20
FLNA 1 1 4 4 10 20
KCNA1 1 2 9 2 6 20
SLC1A3 0 0 11 2 7 20
ATM, C11orf65 0 0 9 4 6 19
KCNH2 0 0 4 3 12 19
NF1 11 0 6 0 2 19
PMP22 5 4 9 0 1 19
WWOX 0 0 1 4 14 19
AIRE 5 1 3 0 9 18
CCDC88C 0 0 10 8 0 18
EFHC1 0 0 4 2 12 18
FLVCR1 0 0 17 0 1 18
IGHMBP2 1 0 2 2 13 18
KCNC3 1 0 3 2 12 18
KCNJ11 2 3 6 1 6 18
MCPH1 0 1 2 0 15 18
PCDH19 7 0 5 1 5 18
PNPLA6 0 0 10 2 6 18
SCN2A 2 0 8 2 6 18
TTR 6 2 5 0 5 18
ADGRG1 0 0 6 6 5 17
APP 1 2 5 0 9 17
CHRNA4 0 0 3 0 14 17
DCTN1 0 0 4 4 9 17
DES 1 1 5 3 7 17
LRRK2 1 0 2 0 14 17
PLCE1 0 0 8 1 8 17
SOD1 9 1 5 0 2 17
SYNJ1 0 0 3 3 11 17
WNK1 0 0 1 0 16 17
ACTN4 0 0 1 1 14 16
AGRN 0 0 2 4 10 16
ALS2 0 0 9 2 5 16
COL6A2 1 1 1 3 10 16
GFAP 0 0 5 1 10 16
HNF1B 5 2 6 1 2 16
INF2 1 1 1 1 12 16
NPHS2 6 1 2 3 4 16
PSEN2 0 1 4 4 7 16
SMN1 6 4 3 0 3 16
TSEN54 0 0 3 2 11 16
ATP2A1 2 2 8 0 3 15
CHD2 0 0 2 1 12 15
DPYD 0 0 5 1 9 15
FGD4 1 0 5 1 8 15
KANSL1 0 0 1 1 13 15
MAPT 4 2 2 0 7 15
MECP2 7 0 2 0 6 15
PIGN 0 0 7 2 6 15
PLCB1 0 0 2 2 11 15
CACNB4 0 0 9 2 3 14
COL6A1 1 0 5 0 8 14
FGFR3 0 0 2 2 10 14
FUS 2 0 2 1 9 14
GRIN2B 0 0 1 0 13 14
MTPAP 0 0 9 3 2 14
RET 5 0 0 0 9 14
SCNN1B 5 0 1 2 6 14
SYT14 0 1 7 4 2 14
TPP1 1 0 6 3 4 14
CLCNKA, LOC106501712 0 0 3 2 8 13
HSPB1 4 0 6 0 3 13
MAGI2 0 0 4 1 8 13
PDX1 2 0 7 2 2 13
PIGO 0 0 4 1 8 13
PRICKLE1 0 0 7 0 6 13
SBF2 2 0 8 0 3 13
SCN8A 0 0 4 0 9 13
SLC2A1 0 0 1 3 9 13
TRAPPC11 0 0 10 2 1 13
ALPL 0 2 2 0 8 12
COL18A1, SLC19A1 0 0 2 4 6 12
CYP27A1 0 1 5 1 5 12
DOCK7 0 0 3 3 6 12
GCH1 2 3 4 0 3 12
LARGE1 0 0 6 2 4 12
LDLR 5 2 2 1 2 12
LOC101928008, SBF2 0 0 7 2 3 12
NDRG1 0 0 5 1 6 12
PRICKLE2 0 0 5 3 4 12
RTN2 0 0 5 0 7 12
SCN3A 0 0 2 1 9 12
SGCG 3 0 5 0 4 12
SIK1 0 0 0 0 12 12
SPATA5 0 1 3 0 8 12
SQSTM1 0 0 3 1 8 12
TBC1D24 0 0 5 5 2 12
TH 0 0 4 0 8 12
ABAT 0 0 2 1 8 11
ALMS1 0 0 0 1 10 11
APTX 1 0 3 2 5 11
ATL1 2 2 1 1 5 11
DEAF1 0 0 2 1 8 11
FKTN 0 1 4 2 4 11
FXN 2 3 4 1 1 11
GABRD 0 0 6 2 3 11
KCNMA1 0 0 2 2 7 11
LAMB2 0 1 2 4 4 11
MTMR2 0 0 4 1 6 11
NEFL 0 0 7 0 4 11
NRXN1 0 0 4 5 2 11
OTOG 0 2 0 2 7 11
PDYN 0 0 5 1 5 11
WASHC5 0 0 2 0 9 11
ALG13 0 0 3 1 6 10
ARFGEF2 0 0 8 1 1 10
ATRX 0 0 4 1 5 10
CENPJ 0 0 2 0 8 10
CPT2 0 0 7 2 1 10
FGF14 0 0 4 1 5 10
KCNQ2 1 0 3 2 4 10
MC4R 4 1 3 0 2 10
NEB, RIF1 1 0 3 2 4 10
PHEX 6 0 1 0 3 10
PINK1 0 0 4 1 5 10
SCNN1G 0 0 1 0 9 10
SGCA 3 0 4 0 3 10
SMCHD1 0 1 1 2 6 10
STXBP1 1 0 1 0 8 10
TRPC6 0 0 2 0 8 10
ADSL 2 0 2 1 4 9
ATP1A3 0 0 0 0 9 9
AVPR2 3 0 2 0 4 9
BSCL2, HNRNPUL2-BSCL2 1 0 2 3 3 9
CHRNB2 0 0 5 0 4 9
CTSF 0 0 3 1 5 9
DAG1 0 0 7 0 2 9
GABRG2 1 0 2 1 5 9
KCNQ3 0 0 5 2 2 9
KIF5A 0 1 3 2 3 9
NIPBL 0 0 4 1 4 9
NTRK1 0 0 2 0 7 9
POMGNT1, TSPAN1 0 1 3 2 3 9
RBFOX1 0 0 3 1 5 9
ROGDI 0 0 1 2 6 9
SELENON 2 1 3 2 1 9
SETBP1 0 0 2 1 6 9
SETD2 0 0 3 1 5 9
SLC12A1 0 1 3 1 4 9
SLC19A3 0 0 2 1 6 9
SLC6A1 0 0 1 1 7 9
STIL 0 0 3 1 5 9
VCP 1 1 3 0 4 9
ASAH1 0 0 4 0 4 8
ATRIP, ATRIP-TREX1, TREX1 0 0 5 1 2 8
AXDND1, NPHS2 3 2 1 1 1 8
CACNA2D1 0 0 1 0 7 8
CCDC78 0 0 5 2 1 8
CCM2 5 0 0 0 3 8
CTSD 0 0 0 3 5 8
CYP7B1 3 0 3 0 2 8
FA2H 0 0 7 0 1 8
FOXG1 0 0 4 3 1 8
GLUD1 1 0 1 0 6 8
GRIN2A 0 0 4 1 3 8
HSPG2, LDLRAD2 0 0 2 3 3 8
HTRA1 0 0 4 1 3 8
LBR 0 0 1 0 7 8
MYH7 0 0 0 1 7 8
MYOT 1 1 0 0 6 8
NEXMIF 0 0 0 3 5 8
RAB3GAP1 0 0 1 1 6 8
SCN1B 1 0 3 2 2 8
SLC4A10 0 0 6 0 2 8
SLC6A8 1 1 3 1 2 8
SMC3 0 0 0 1 7 8
SUCLA2 0 1 1 0 6 8
TARDBP 2 0 2 1 3 8
TBX1 0 0 2 0 6 8
TWNK 1 0 4 0 3 8
UMOD 3 1 2 0 2 8
ZEB2 0 0 4 1 3 8
ATP6V0A2 0 0 3 2 2 7
BAG3 0 0 0 0 7 7
CHMP2B 0 0 4 0 3 7
CHRNE 1 1 2 2 1 7
DHCR7 1 0 0 0 6 7
EEF1A2 0 0 0 0 7 7
GNAO1 0 0 0 0 7 7
GRIN1 0 0 1 1 5 7
LHCGR, STON1-GTF2A1L 2 0 1 0 4 7
LOC101927055, TTN 0 0 4 0 3 7
LOC101927870, RELN 0 0 3 2 2 7
MBD5 0 0 1 4 2 7
SEPTIN9 1 0 1 1 4 7
SGCB 1 0 5 1 0 7
SPART 0 0 5 1 1 7
SYN1 0 0 1 0 6 7
USH2A 0 0 0 1 6 7
CACNA2D2 0 0 2 3 1 6
CAV3 1 0 1 0 4 6
CHAT 0 0 3 0 3 6
CHD7 0 0 0 0 6 6
CLN6 0 0 3 2 1 6
CLN8 0 0 4 0 2 6
DOK7 2 0 1 2 1 6
DYRK1A 0 0 3 0 3 6
EPM2A 0 0 4 0 2 6
GDAP1 2 0 2 1 1 6
HNRNPU 0 0 1 0 5 6
KCNJ1 2 0 0 2 2 6
KCNJ10 0 0 4 2 0 6
KIFBP 0 0 1 0 5 6
KRIT1 3 1 1 0 1 6
L1CAM 0 0 3 0 3 6
LDB3 0 0 0 0 6 6
LEPR 0 0 0 0 6 6
LRP5 0 0 0 0 6 6
MYBPC3 0 1 2 1 2 6
NR0B1 3 1 0 0 2 6
OPHN1 0 0 2 1 3 6
PNKP 0 0 2 3 1 6
PRKN 1 2 1 0 2 6
QARS1 0 0 3 0 3 6
REEP1 1 0 2 0 3 6
RIPOR2 0 0 0 0 6 6
RNASEH2B 1 1 1 1 2 6
SCARB2 0 0 3 1 2 6
SCN9A 0 0 3 1 2 6
SIX3 0 0 0 0 6 6
SLC25A22 0 0 2 2 2 6
SNAP29 0 0 1 4 1 6
ST3GAL5 0 0 2 1 3 6
TBL1XR1 0 0 1 0 5 6
TCF4 0 0 1 0 5 6
TTPA 3 0 2 1 0 6
ARMS2, HTRA1 0 0 0 1 4 5
ASTN2, TRIM32 0 0 4 1 0 5
ATP2A2 0 0 0 1 4 5
CATIP, PNKD 0 0 1 0 4 5
CHRNA2 0 0 1 2 2 5
COL2A1 0 0 1 0 4 5
CUL4B 0 0 4 0 1 5
DNM1 0 0 0 2 3 5
EIF2B4 0 0 0 0 5 5
FANCI, POLG 0 0 2 1 2 5
FGFR1 2 0 1 0 2 5
GABRB2 0 0 2 1 2 5
GABRB3 0 0 2 0 3 5
GRIA3 0 0 0 2 3 5
HCN1 0 0 0 0 5 5
HSD11B2 0 0 2 0 3 5
KCNB1 0 0 0 0 5 5
L2HGDH 0 0 2 0 3 5
LOC107652445, SHOX 1 0 1 1 2 5
MAF, WWOX 0 0 1 0 4 5
MEGF10 0 0 1 2 2 5
MHRT, MYH7 0 0 1 2 2 5
NF2 3 0 0 0 2 5
NHLRC1 0 0 4 0 1 5
OPTN 0 0 2 1 2 5
PANK2 0 0 0 1 4 5
PHGDH 0 0 1 1 3 5
PROKR2 1 0 0 0 4 5
PROP1 1 0 0 0 4 5
PRRT2 1 0 1 0 3 5
SLC33A1 0 0 1 0 4 5
STAR 3 1 0 0 1 5
STX1B 0 0 0 0 5 5
THAP1 0 0 2 1 2 5
TMEM43 0 0 2 1 2 5
TUBA1A 0 0 1 1 3 5
TUBA8 0 0 2 1 2 5
UBQLN2 0 0 3 1 1 5
VAPB 1 0 2 1 1 5
WT1 1 0 1 0 3 5
ANOS1 1 0 0 0 3 4
AQP2 2 2 0 0 0 4
BBS1, ZDHHC24 0 0 0 0 4 4
BICD2 0 0 3 0 1 4
CACNA2D2, CYB561D2 0 0 0 1 3 4
CAV3, SSUH2 1 0 0 0 3 4
CDH23 0 0 0 0 4 4
CHKB, CHKB-CPT1B 0 0 2 1 1 4
CHRNA1 0 0 0 3 1 4
CLN5 0 0 1 2 1 4
CNTN1 0 0 1 1 2 4
COL6A2, FTCD 0 0 0 0 4 4
CPA6 0 0 3 0 1 4
DNAJB6 0 0 2 0 2 4
EMD 2 0 0 1 1 4
GAMT 0 0 4 0 0 4
GH-LCR, GH1 1 0 0 0 3 4
GHR 0 0 0 0 4 4
GOSR2, LRRC37A2 0 0 2 0 2 4
GPC3 0 0 1 0 3 4
HSD17B4 0 1 0 0 3 4
HSPB3 0 0 0 1 3 4
HSPB8 0 0 1 0 3 4
IQSEC2 0 0 0 0 4 4
KANSL1, MAPT 0 0 0 0 4 4
KCNA2 0 0 0 1 3 4
KCNC1 0 0 1 0 3 4
KCTD7 0 0 2 1 1 4
LIAS 0 0 2 1 1 4
LITAF 1 0 0 1 2 4
LMNB2 0 0 1 1 2 4
MEN1 2 0 0 0 2 4
MUSK 0 0 2 0 2 4
MYH14 0 0 0 0 4 4
OFD1 0 0 3 0 1 4
OTOF 0 0 0 0 4 4
OTOGL 0 0 0 0 4 4
PDZD7 0 0 0 0 4 4
PHEX, PTCHD1 3 0 0 0 1 4
PLA2G6 0 0 2 1 1 4
PLP1, RAB9B 0 1 0 0 3 4
PRIMA1 0 0 0 1 3 4
RAPSN 0 0 1 2 1 4
RNASEH2A 0 0 3 0 1 4
SDHB 0 2 1 0 1 4
SGCD 0 0 0 1 3 4
SHH 0 0 0 0 4 4
SLC9A6 0 0 0 1 3 4
SNHG14, UBE3A 0 0 0 1 3 4
SPG21 0 0 2 1 1 4
TAPBPL, VAMP1 1 0 2 0 1 4
TCAP 1 0 3 0 0 4
TECTA 0 0 2 2 0 4
TNC 0 0 0 0 4 4
YARS1 0 0 2 1 1 4
ACTG1 0 0 0 0 3 3
ALDH7A1 0 0 1 2 0 3
ANG, RNASE4 0 0 1 1 1 3
ARSA 0 0 0 0 3 3
ARX 0 0 0 0 3 3
ATP6AP2 0 0 1 0 2 3
BBS10 1 0 1 0 1 3
BSND 0 0 0 0 3 3
CDKL5 1 0 0 0 2 3
CEP290 0 0 0 1 2 3
CHSY1 0 0 0 1 2 3
CLCNKB 2 0 0 0 1 3
CLN3 0 0 1 1 1 3
COL11A1 0 0 0 0 3 3
COL4A6 0 0 0 0 3 3
COL9A1 0 0 0 0 3 3
COL9A2 0 0 0 0 3 3
COLQ 1 1 0 0 1 3
CPA6, LOC102724708 0 0 1 0 2 3
CRH 0 0 0 0 3 3
CRPPA 0 0 2 1 0 3
CYP11B1 1 0 2 0 0 3
CYP17A1 0 0 0 0 3 3
EGR2 0 0 3 0 0 3
EIF2B5 1 0 1 0 1 3
EPM2A, LOC100507557 0 0 0 0 3 3
EPS8 0 0 0 0 3 3
GABRA1 0 1 0 0 2 3
GPSM2 0 0 0 0 3 3
ILDR1 0 0 0 0 3 3
INS, INS-IGF2, TH 0 0 0 0 3 3
ITGA7 0 0 0 1 2 3
KBTBD13 0 0 0 0 3 3
KCNJ2 2 0 1 0 0 3
LOC108903148, OPTN 0 0 1 0 2 3
LOC110121269, SCN5A 0 0 1 0 2 3
ME2 0 0 3 0 0 3
MYO3A 0 0 0 2 1 3
NIPA1 1 0 2 0 0 3
PCDH15 0 0 1 0 2 3
PNPO 0 0 1 0 2 3
PPT1 1 0 1 0 1 3
PTPN11 3 0 0 0 0 3
RAB7A 0 0 0 0 3 3
SLC13A5 0 0 1 0 2 3
SLC26A4 0 0 0 0 3 3
SMC1A 0 0 0 1 2 3
SNAP25 0 0 1 1 1 3
SRPX2 0 0 1 0 2 3
ST3GAL3 0 0 0 0 3 3
SYNGAP1 0 0 2 0 1 3
TIA1 0 0 0 0 3 3
TRIOBP 0 0 0 0 3 3
WDR45 0 0 1 0 2 3
ALG9 0 0 0 1 1 2
AMT 0 0 2 0 0 2
ARHGEF9 0 0 0 2 0 2
BBS1 0 0 1 0 1 2
BBS2 0 0 0 0 2 2
BDP1 0 0 1 0 1 2
C17orf107, CHRNE 0 1 1 0 0 2
CC2D2A 0 0 0 1 1 2
CDKL5, RS1 0 0 1 0 1 2
CEMIP 0 0 0 1 1 2
CHRNA4, LOC100130587 0 0 1 0 1 2
CHRND 0 0 2 0 0 2
CLN5, FBXL3 0 0 2 0 0 2
CSTB 2 0 0 0 0 2
CYP11B1, LOC110673972 0 0 2 0 0 2
CYP21A2 0 0 2 0 0 2
DMAC2L, L2HGDH 0 0 0 0 2 2
DNAJC5 0 0 0 0 2 2
EMX2 0 0 1 0 1 2
FGD1 0 0 2 0 0 2
FGD1, TSR2 0 0 1 0 1 2
FGF23 0 0 0 0 2 2
FGFR2 0 0 0 0 2 2
GATM 0 0 0 0 2 2
GFPT1 0 0 0 0 2 2
GNE 2 0 0 0 0 2
HSPD1 0 0 2 0 0 2
INS, INS-IGF2 1 0 1 0 0 2
KISS1R 0 0 0 0 2 2
KLHL40 0 0 1 1 0 2
LARS2 0 0 0 0 2 2
LDB3, LOC110121486 1 0 0 0 1 2
LOC100287042, SLC25A19 0 0 0 0 2 2
LOC107982234, WT1 0 0 0 0 2 2
LOC112533671, TSEN54 0 0 0 0 2 2
LOXHD1 0 0 0 1 1 2
MATR3 1 0 0 0 1 2
MFSD8 0 0 1 0 1 2
MIR6084, PINK1 0 0 1 0 1 2
MIR6511B1, PKD1 0 0 1 0 1 2
MT-CO1 0 0 0 0 2 2
MT-RNR1 0 0 0 0 2 2
MYH2, MYHAS 0 1 0 0 1 2
MYO7A 0 0 0 1 1 2
NDE1 0 0 2 0 0 2
NOC3L, PLCE1 0 0 2 0 0 2
NR2F1 0 0 0 0 2 2
PAK3 0 0 0 1 1 2
PARK7 1 0 0 0 1 2
PEX7 0 0 1 1 0 2
PIGA 0 0 1 0 1 2
PQBP1 0 0 0 0 2 2
PTPRQ 0 0 0 0 2 2
RAB3GAP1, ZRANB3 0 0 2 0 0 2
ROR1 0 0 0 0 2 2
SALL1 0 0 0 0 2 2
SAMHD1 0 0 1 1 0 2
SCO2, TYMP 0 0 0 0 2 2
SEMA3E 0 0 0 0 2 2
SERPINI1 0 0 1 0 1 2
SGCE 0 0 2 0 0 2
SIGMAR1 0 0 1 0 1 2
SLC25A19 0 0 1 0 1 2
SLC35A2 0 0 1 0 1 2
SOS1 0 0 1 1 0 2
TCOF1 0 0 0 0 2 2
TMEM67 0 0 0 0 2 2
TUBB2B 0 0 2 0 0 2
UBA1 0 0 0 0 2 2
WHRN 0 0 1 1 0 2
ABCC8, KCNJ11 0 0 0 0 1 1
AFG3L2, TUBB6 0 0 1 0 0 1
ANGPT2, MCPH1 0 0 1 0 0 1
ANKH 0 0 0 0 1 1
APOB 1 0 0 0 0 1
ATP2B2 0 0 0 0 1 1
ATP6V1B1 0 0 0 0 1 1
B4GAT1 0 0 1 0 0 1
BCKDK 0 0 0 0 1 1
BIN1 0 0 0 1 0 1
C10orf105, CDH23 0 0 0 0 1 1
C12orf43, HNF1A 0 0 0 1 0 1
CACNA1D 0 0 0 0 1 1
CAPN3, SGCB 1 0 0 0 0 1
CASK 0 0 0 0 1 1
CHMP2B, POU1F1 0 0 0 0 1 1
CHRNB1 0 0 1 0 0 1
CIZ1, DNM1 0 0 0 0 1 1
CLDN14 0 0 0 0 1 1
CLIC5 0 0 0 0 1 1
CLPP 0 0 0 0 1 1
COL11A2 0 0 1 0 0 1
COL4A1, COL4A2 0 0 0 0 1 1
COL9A3 0 0 0 0 1 1
CPLANE1, NIPBL 0 0 0 0 1 1
CRYAB 0 0 0 0 1 1
CYP21A2, LOC106780800, TNXB 0 0 0 0 1 1
DCDC2 0 0 0 0 1 1
DCX 0 0 1 0 0 1
DGUOK 0 0 1 0 0 1
DKFZP434H168, GNAO1 0 0 0 0 1 1
DPAGT1 0 0 1 0 0 1
DSPP 0 0 0 0 1 1
EIF2B3 0 0 0 0 1 1
ELMOD3 0 0 0 0 1 1
EMX2, EMX2OS 0 0 0 0 1 1
ERCC3 0 0 0 0 1 1
ESR1, SYNE1 0 0 1 0 0 1
ESRRB 0 0 0 0 1 1
EYA1 0 0 0 0 1 1
FGF8 0 0 0 0 1 1
FHL1 0 0 0 0 1 1
FOXI1 0 0 0 0 1 1
GJB3 0 0 0 1 0 1
GLUD1, SHLD2 0 0 0 1 0 1
GNRH1 0 0 0 0 1 1
GNRHR 0 0 0 0 1 1
GRHL2 0 0 0 0 1 1
GRXCR1 0 0 0 0 1 1
HGF 0 0 0 0 1 1
HOXB1 0 0 1 0 0 1
HSD3B2 1 0 0 0 0 1
INS, TH 0 0 0 0 1 1
KARS1 0 0 0 0 1 1
KCNQ1 0 0 1 0 0 1
KDM5C 0 0 1 0 0 1
KIRREL2, NPHS1 0 0 1 0 0 1
LGI1 0 0 1 0 0 1
LOC107303340, VHL 1 0 0 0 0 1
LRTOMT 0 0 0 0 1 1
MANBA 0 0 0 0 1 1
MCM2 0 0 0 1 0 1
MCOLN1, PNPLA6 0 0 0 0 1 1
MET 0 0 0 0 1 1
MPV17 1 0 0 0 0 1
MTM1 0 0 1 0 0 1
MYH11, NDE1 0 0 1 0 0 1
MYH9 0 0 0 0 1 1
MYO15A 0 0 1 0 0 1
MYO6 0 0 1 0 0 1
NLRP3 0 0 0 0 1 1
PAFAH1B1 0 0 0 0 1 1
PAX3 0 0 0 0 1 1
PDCD10 0 1 0 0 0 1
PEX6 0 0 0 0 1 1
PIGV 0 0 1 0 0 1
POMGNT1 0 0 0 0 1 1
POMGNT2 0 0 0 1 0 1
PROK2 1 0 0 0 0 1
PTEN 1 0 0 0 0 1
RNASEH2C 0 0 1 0 0 1
RXYLT1 0 0 1 0 0 1
S1PR2 0 0 0 0 1 1
SACS, SGCG 0 0 0 0 1 1
SHANK2 0 0 0 0 1 1
SHANK3 0 0 0 0 1 1
SLC25A4 0 0 0 0 1 1
SLITRK6 0 0 0 0 1 1
SMS 0 0 0 0 1 1
SPTLC1 0 0 1 0 0 1
SPTLC2 0 0 0 0 1 1
SYP 0 0 0 0 1 1
TACR3 0 0 0 1 0 1
TFAP2A 0 0 0 0 1 1
TJP2 0 0 0 0 1 1
TK2 0 0 0 1 0 1
TMEM216 0 0 0 0 1 1
TMPRSS3 0 0 0 0 1 1
TPM2 0 0 0 0 1 1
TYMP 0 0 1 0 0 1
VHL 0 0 0 0 1 1
VRK1 0 0 0 0 1 1
WFS1 0 0 0 0 1 1

Condition and significance breakdown #

Total conditions: 117
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 972 299 1584 590 2160 5605
not specified 0 0 1541 434 991 2966
Tuberous sclerosis 2 45 6 0 0 26 77
Duchenne muscular dystrophy 70 0 0 0 0 70
Tuberous sclerosis 1 22 0 0 0 6 28
Polycystic kidney disease, adult type 0 0 0 0 26 26
Severe myoclonic epilepsy in infancy 25 0 0 0 0 25
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 0 0 0 0 21 21
Brain small vessel disease with hemorrhage 0 0 0 0 20 20
Limb-girdle muscular dystrophy, type 2A 15 1 0 0 1 17
Potassium aggravated myotonia; Paramyotonia congenita of von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic Periodic Paralysis Type 1; Congenital myasthenic syndrome, acetazolamide-responsive 0 0 0 0 16 16
Episodic ataxia type 2; Familial hemiplegic migraine type 1 0 0 0 0 12 12
Hereditary sensory and autonomic neuropathy type IIA 0 0 0 0 12 12
Limb-girdle muscular dystrophy, type 2B 10 2 0 0 0 12
Alport syndrome 3, autosomal dominant; Alport syndrome, autosomal recessive 0 0 0 0 11 11
Charcot-Marie-Tooth disease, demyelinating, type 1b 10 0 0 0 0 10
Familial hypokalemia-hypomagnesemia 0 0 0 0 10 10
Merosin deficient congenital muscular dystrophy 0 0 0 0 10 10
Primary autosomal recessive microcephaly 2 0 0 0 0 10 10
Charcot-Marie-Tooth disease, demyelinating, type 4F 2 0 0 0 7 9
Frontotemporal dementia, ubiquitin-positive 0 0 0 0 9 9
Charcot-Marie-Tooth disease, type 2A2A 6 2 0 0 0 8
Spinal muscular atrophy, distal, autosomal recessive, 1 0 0 0 0 8 8
Spinocerebellar ataxia 5 0 0 0 0 8 8
Becker muscular dystrophy; Duchenne muscular dystrophy 0 0 0 0 7 7
Hypokalemic periodic paralysis 1; Malignant hyperthermia susceptibility type 5 0 0 0 0 7 7
Juvenile myoclonic epilepsy 0 0 0 0 7 7
Pitt-Hopkins-like syndrome 1 0 0 0 0 7 7
Islet cell hyperplasia 0 0 0 0 6 6
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 0 0 0 0 6 6
Smith-Lemli-Opitz syndrome 0 0 0 0 6 6
Smith-Magenis syndrome 0 0 0 0 6 6
Bardet-Biedl syndrome 1 0 0 0 0 5 5
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 0 0 0 0 5 5
Charcot-Marie-Tooth disease, type 4B1 0 0 0 0 5 5
Familial hemiplegic migraine type 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 0 0 0 0 5 5
Limb-girdle muscular dystrophy, type 1C; Distal myopathy, Tateyama type 0 0 0 0 5 5
Rett syndrome 5 0 0 0 0 5
Spastic paraplegia 11, autosomal recessive 0 0 0 0 5 5
X-linked hereditary motor and sensory neuropathy 5 0 0 0 0 5
Alport syndrome, autosomal recessive 0 0 0 0 4 4
Benign scapuloperoneal muscular dystrophy with cardiomyopathy 2 2 0 0 0 4
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy 0 0 0 0 4 4
Charcot-Marie-Tooth disease type 2D; Distal hereditary motor neuronopathy type 5 0 0 0 0 4 4
Charcot-Marie-Tooth disease, type IA 3 1 0 0 0 4
Epilepsy, nocturnal frontal lobe, type 1 0 0 0 0 4 4
Finnish congenital nephrotic syndrome 0 0 0 0 4 4
Focal segmental glomerulosclerosis 1 0 0 0 0 4 4
Focal segmental glomerulosclerosis 5 0 0 0 0 4 4
Limb-girdle muscular dystrophy, type 2L 4 0 0 0 0 4
Myofibrillar myopathy, BAG3-related 0 0 0 0 4 4
Persistent hyperinsulinemic hypoglycemia of infancy 0 0 0 0 4 4
Amyotrophic lateral sclerosis type 11; Charcot-Marie-Tooth disease, type 4J 0 0 0 0 3 3
Benign familial neonatal seizures 1 0 0 0 0 3 3
Charcot-Marie-Tooth disease type 2C 3 0 0 0 0 3
Charcot-Marie-Tooth disease, type 4C 3 0 0 0 0 3
Drash syndrome; Frasier syndrome; Diffuse mesangial sclerosis; Wilms tumor 1 0 0 0 0 3 3
Focal segmental glomerulosclerosis 2 0 0 0 0 3 3
Kallmann syndrome 3 0 0 0 0 3 3
Laron-type isolated somatotropin defect 0 0 0 0 3 3
Metachromatic leukodystrophy 0 0 0 0 3 3
Paroxysmal nonkinesigenic dyskinesia 1 0 0 0 0 3 3
Severe autosomal recessive muscular dystrophy of childhood - North African type 2 0 0 0 1 3
Spastic paraplegia 7 0 0 0 0 3 3
Spastic paraplegia 8 0 0 0 0 3 3
Alzheimer disease, type 4 0 0 0 0 2 2
Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia autosomal recessive 1 0 0 0 0 2 2
Amyotrophic lateral sclerosis type 6 0 0 0 0 2 2
Ateleiotic dwarfism; Autosomal dominant isolated somatotropin deficiency; Kowarski syndrome; Isolated growth hormone deficiency type 1B 0 0 0 0 2 2
Charcot-Marie-Tooth disease type 2B1; Limb-girdle muscular dystrophy, type 1B; Emery-Dreifuss muscular dystrophy 3, autosomal recessive 0 0 0 0 2 2
Charcot-Marie-Tooth disease type 2F 2 0 0 0 0 2
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease, demyelinating, type 1b 0 0 0 0 2 2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 0 0 0 0 2 2
Cohen syndrome 0 0 0 0 2 2
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 0 0 0 0 2 2
Dilated cardiomyopathy 1A 1 1 0 0 0 2
Dominant hereditary optic atrophy 0 0 0 0 2 2
Epileptic encephalopathy, early infantile, 1; Mental retardation, with or without seizures, ARX-related, X-linked 0 0 0 0 2 2
Familial febrile seizures 8 0 0 0 0 2 2
Familial juvenile gout; Medullary cystic kidney disease 2 0 0 0 0 2 2
Fukuyama congenital muscular dystrophy; Limb-girdle muscular dystrophy-dystroglycanopathy, type C4; Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4 0 0 0 0 2 2
GLUT1 deficiency syndrome 1 0 0 0 0 2 2
Hyperinsulinism-hyperammonemia syndrome 0 0 0 0 2 2
Lafora disease 0 0 0 0 2 2
Limb-girdle muscular dystrophy, type 1A; Myofibrillar myopathy 3 0 0 0 0 2 2
Limb-girdle muscular dystrophy, type 2F 0 0 0 0 2 2
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2 0 0 0 0 2
Myoclonic dystonia 0 0 0 0 2 2
Nephrotic syndrome, idiopathic, steroid-resistant 0 0 0 0 2 2
Parkinson disease 6, autosomal recessive early-onset 0 0 0 0 2 2
Spastic paraplegia 3; Hereditary sensory neuropathy type 1D 0 0 0 0 2 2
Adrenoleukodystrophy 0 0 0 0 1 1
Ataxia-telangiectasia syndrome 0 0 0 0 1 1
Bardet-Biedl syndrome 10 0 0 0 0 1 1
Bardet-Biedl syndrome 2 0 0 0 0 1 1
Bartter syndrome type 4 0 0 0 0 1 1
Bartter syndrome, type 1, antenatal 0 0 0 0 1 1
Charcot-Marie-Tooth disease type 2B1 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 2K; Charcot-Marie-Tooth disease, type 4A 0 0 0 0 1 1
Charcot-Marie-Tooth disease, axonal, type 2b 0 0 0 0 1 1
Charcot-Marie-Tooth disease, dominant intermediate C 0 0 0 0 1 1
Charcot-Marie-Tooth disease, type 1C 0 0 0 0 1 1
Charcot-Marie-Tooth disease, type 4A 1 0 0 0 0 1
Charcot-Marie-Tooth disease, type 4J 1 0 0 0 0 1
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 0 0 0 0 1 1
Deafness, autosomal recessive 1A; Deafness, autosomal dominant 3a 0 0 0 0 1 1
Familial hemiplegic migraine type 2 0 0 0 0 1 1
Familial partial lipodystrophy 2 1 0 0 0 0 1
Leptin receptor deficiency 0 0 0 0 1 1
Limb-girdle muscular dystrophy, type 1C 1 0 0 0 0 1
Limb-girdle muscular dystrophy, type 2D 1 0 0 0 0 1
Limb-girdle muscular dystrophy, type 2E 1 0 0 0 0 1
Miyoshi muscular dystrophy 1; Limb-girdle muscular dystrophy, type 2B; Myopathy, distal, with anterior tibial onset 0 0 0 0 1 1
Myopathy with postural muscle atrophy, X-linked; Scapuloperoneal myopathy, X-linked dominant 0 0 0 0 1 1
Nephrogenic diabetes insipidus, X-linked; Nephrogenic syndrome of inappropriate antidiuresis 0 0 0 0 1 1
Spastic paraplegia 31, autosomal dominant 0 0 0 0 1 1
Spinocerebellar ataxia 14 0 0 0 0 1 1

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