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 |
16
|
8
|
3
|
0 |
0 |
27
|
Gene and significance breakdown #
Total genes and gene combinations: 24
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
total |
GH-LCR, SCN4A
|
0 |
2
|
0 |
2
|
HECW2
|
1
|
1
|
0 |
2
|
PIEZO2
|
0 |
0 |
2
|
2
|
ABHD17B, ACER2, ACO1, ADAMTSL1, AGTPBP1, ALDH1A1, ALDH1B1, ANKRD18A, ANKRD18B, ANKRD20A1, ANKS6, ANP32B, ANXA1, AOPEP, APBA1, APTX, AQP3, AQP7, ARHGEF39, ARID3C, ASPN, ATOSB, AUH, B4GALT1, BAG1, BANCR, BARX1, BICD2, BNC2, C9orf153, C9orf40, C9orf47, C9orf57, C9orf72, C9orf85, CA9, CAAP1, CARD19, CARNMT1, CCDC107, CCDC171, CCDC180, CCIN, CCL19, CCL21, CCL27, CD72, CDC14B, CDK20, CDKN2A, CDKN2B, CEMIP2, CENPP, CEP78, CER1, CFAP95, CHMP5, CIMIP2B, CKS2, CLTA, CNTFR, CNTLN, CNTNAP3, CNTNAP3B, CORO2A, CREB3, CTSL, CTSV, DAPK1, DAPK1-IT1, DCAF10, DCAF12, DCTN3, DENND4C, DIRAS2, DMRTA1, DNAI1, DNAJA1, DNAJB5, ECM2, ELAVL2, ENHO, ENTREP1, EQTN, ERCC6L2, EXOSC3, FAM120A, FAM120AOS, FAM219A, FAM221B, FAM27D1, FANCC, FANCG, FBP1, FBP2, FBXO10, FGD3, FOCAD, FOXB2, FOXD4L3, FOXD4L4, FOXD4L5, FOXD4L6, FOXE1, FREM1, FRMD3, FRMPD1, FXN, GABBR2, GADD45G, GALT, GAS1, GBA2, GCNT1, GDA, GKAP1, GLIPR2, GNA14, GNAQ, GNE, GOLM1, GRHPR, HABP4, HACD4, HAUS6, HEMGN, HINT2, HNRNPK, HRCT1, HSD17B3, IARS1, IDNK, IFNA1, IFNA10, IFNA13, IFNA14, IFNA16, IFNA17, IFNA2, IFNA21, IFNA4, IFNA5, IFNA6, IFNA7, IFNA8, IFNB1, IFNE, IFNW1, IFT74, IGFBPL1, IL11RA, IPPK, ISCA1, IZUMO3, KIF24, KIF27, KLF9, KLHL9, LINC00537, LINC02872, LINGO2, LRRC19, LURAP1L, MAMDC2, MELK, MFSD14B, MIR204, MIR23B, MIR24-1, MIR27B, MIR31, MIR7-1, MIRLET7A1, MIRLET7D, MIRLET7F1, MLLT3, MOB3B, MPDZ, MSMP, MTAP, MYORG, NAA35, NANS, NCBP1, NDUFB6, NFIB, NFIL3, NFX1, NINJ1, NMRK1, NOL6, NOL8, NPR2, NTRK2, NUDT2, NUTM2F, NUTM2G, NXNL2, OGN, OMD, OR13J1, OR2S2, OSTF1, PABIR1, PAX5, PCA3, PCSK5, PGM5, PHF2, PHF24, PIGO, PIP5K1B, PLAA, PLIN2, POLR1E, PRKACG, PRSS3, PRSS47, PRUNE2, PRXL2C, PSAT1, PSIP1, PTAR1, PTCH1, PTPDC1, QNG1, RASEF, RECK, RFK, RGP1, RIGI, RMI1, RMRP, RNF38, ROR2, RORB, RPP25L, RPS6, RRAGA, RUSC2, S1PR3, SAXO1, SECISBP2, SEMA4D, SH3GL2, SHB, SHC3, SIGMAR1, SIT1, SLC24A2, SLC25A51, SLC28A3, SLC35D2, SMC5, SMU1, SNAPC3, SPAG8, SPATA31A1, SPATA31A3, SPATA31A5, SPATA31A6, SPATA31A7, SPATA31C1, SPATA31C2, SPATA31D1, SPATA31D3, SPATA31D4, SPATA31E1, SPATA31F1, SPATA31G1, SPIN1, SPINK4, SPMIP6, SPTLC1, STOML2, SUSD3, SYK, TAF1L, TBC1D2, TDRD7, TEK, TESK1, TJP2, TLE1, TLE4, TLN1, TMC1, TMEM215, TMEM252, TMEM8B, TMOD1, TOMM5, TOPORS, TPM2, TRIM14, TRMO, TRMT10B, TRPM3, TRPM6, TSTD2, TTC39B, TUSC1, TUT7, TYRP1, UBAP1, UBAP2, UBE2R2, UBQLN1, UNC13B, VCP, VPS13A, WNK2, XPA, ZBTB5, ZCCHC7, ZDHHC21, ZFAND5, ZNF169, ZNF367, ZNF484, ZNF510, ZNF658, ZNF782, ZNG1C, ZNG1E, ZNG1F
|
0 |
1
|
0 |
1
|
AGTPBP1
|
1
|
0 |
0 |
1
|
CLDN4, ELN, LIMK1, METTL27, TMEM270
|
1
|
0 |
0 |
1
|
CNOT3
|
0 |
1
|
0 |
1
|
COL27A1
|
1
|
0 |
0 |
1
|
GAMT
|
1
|
0 |
0 |
1
|
IRAK1BP1, PHIP
|
1
|
0 |
0 |
1
|
KAT6A
|
1
|
0 |
0 |
1
|
KDM6A
|
1
|
0 |
0 |
1
|
KLHL40
|
0 |
1
|
0 |
1
|
LOC102724058, SCN1A
|
0 |
0 |
1
|
1
|
LOC121740638, TFAP2A
|
1
|
0 |
0 |
1
|
PCNT
|
1
|
0 |
0 |
1
|
POMGNT1
|
1
|
0 |
0 |
1
|
POMGNT1, TSPAN1
|
0 |
1
|
0 |
1
|
PXDN
|
1
|
0 |
0 |
1
|
SCN2A
|
1
|
0 |
0 |
1
|
SNHG14, UBE3A
|
1
|
0 |
0 |
1
|
SPR
|
1
|
0 |
0 |
1
|
STXBP1
|
1
|
0 |
0 |
1
|
TUBA1A
|
0 |
1
|
0 |
1
|
Condition and significance breakdown #
Condition |
pathogenic |
likely pathogenic |
uncertain significance |
total |
Arthrogryposis, distal, with impaired proprioception and touch
|
0 |
0 |
2
|
2
|
Congenital myopathy 22B, severe fetal
|
0 |
2
|
0 |
2
|
Muscle eye brain disease
|
1
|
1
|
0 |
2
|
Neurodevelopmental disorder with hypotonia, seizures, and absent language
|
1
|
1
|
0 |
2
|
Angelman syndrome
|
1
|
0 |
0 |
1
|
Anterior segment dysgenesis 7
|
1
|
0 |
0 |
1
|
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
|
1
|
0 |
0 |
1
|
Branchiooculofacial syndrome
|
1
|
0 |
0 |
1
|
Deficiency of guanidinoacetate methyltransferase
|
1
|
0 |
0 |
1
|
Developmental and epileptic encephalopathy, 11
|
1
|
0 |
0 |
1
|
Developmental and epileptic encephalopathy, 4
|
1
|
0 |
0 |
1
|
Dopa-responsive dystonia due to sepiapterin reductase deficiency
|
1
|
0 |
0 |
1
|
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
|
0 |
1
|
0 |
1
|
Kabuki syndrome 2
|
1
|
0 |
0 |
1
|
Lissencephaly due to TUBA1A mutation
|
0 |
1
|
0 |
1
|
Microcephalic osteodysplastic primordial dwarfism type II
|
1
|
0 |
0 |
1
|
Nemaline myopathy 8
|
0 |
1
|
0 |
1
|
Neurodegeneration, childhood-onset, with cerebellar atrophy
|
1
|
0 |
0 |
1
|
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
|
1
|
0 |
0 |
1
|
Recurrent spontaneous abortion; Abnormal chromosome morphology
|
0 |
1
|
0 |
1
|
Steel syndrome
|
1
|
0 |
0 |
1
|
Williams syndrome
|
1
|
0 |
0 |
1
|
not provided
|
0 |
0 |
1
|
1
|
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