An
Autosomal recessive
mode(s) within the
Skin disorders
category
Benign
1
Conflicting classifications of pathogenicity
5
Likely pathogenic
6
Pathogenic
14
Pathogenic/Likely pathogenic
6
Uncertain significance
2
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_152416.3(NDUFAF6):c.[328G>T];[611C>T] | CompoundHeterozygote | Chr: | Pathogenic |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
||
| NM_001378615.1(CC2D2A):c.4555T>G (p.Trp1519Gly) | Single nucleotide variant | Chr4:15599587 | Likely pathogenic | Missense variant | rs1577406415 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) | Microsatellite | Chr6:118558957 - 118558959 | Pathogenic | Inframe_indel|inframe_deletion|intron variant | rs397516784 |
.Lifecell International Pvt. Ltd |
| NM_001379500.1(COL18A1):c.2368C>T (p.Arg790Ter) | Single nucleotide variant | Chr21:45494560 | Pathogenic | Nonsense | rs1555870809 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs) | Deletion | Chr21:45510091 - 45510092 | Pathogenic | Frameshift variant | rs398122391 | |
| NM_000249.4(MLH1):c.454-13A>G | Single nucleotide variant | Chr3:37008801 | Likely pathogenic | Intron variant | rs267607749 | |
| NM_000249.4(MLH1):c.306G>T (p.Glu102Asp) | Single nucleotide variant | Chr3:37001053 | Uncertain significance | Missense variant|5 prime UTR variant|intron variant | rs63751665 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly) | Single nucleotide variant | Chr3:37048952 | Conflicting classifications of pathogenicity | Missense variant|intron variant | rs63750809 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg) | Single nucleotide variant | Chr3:37048952 | Likely pathogenic | Missense variant|intron variant | rs63750809 | |
| NM_000249.4(MLH1):c.156del (p.Glu53fs) | Deletion | Chr3:36996656 | Pathogenic | Frameshift variant|5 prime UTR variant|intron variant | rs63750028 |
.Biotechnology, Institute of Science, Nirma University .Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000251.3(MSH2):c.294T>A (p.Tyr98Ter) | Single nucleotide variant | Chr2:47408483 | Pathogenic | Nonsense | rs763872353 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000251.3(MSH2):c.274C>G (p.Leu92Val) | Single nucleotide variant | Chr2:47408463 | Conflicting classifications of pathogenicity | Missense variant | rs587779154 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs) | Deletion | Chr2:47429891 - 47429892 | Pathogenic | Frameshift variant | rs63750086 |
.GenePathDx, GenePath diagnostics |
| NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) | Single nucleotide variant | Chr2:47429830 | Pathogenic | Nonsense | rs587779075 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NC_012920.1(MT-CYB):m.14766C>T | Single nucleotide variant | ChrMT:14766 | Benign | rs193302980 |
.Department of Zoology Govt. MVM College .Genomics Division, Defence Institute of Physiology and Allied Sciences |
|
| NM_001365902.3(NFIX):c.1112del (p.Phe371fs) | Deletion | Chr19:13081712 | Likely pathogenic | Frameshift variant |
.Department Of Medical Genetics, Apollo Hospitals |
|
| NM_001365902.3(NFIX):c.416G>A (p.Gly139Glu) | Single nucleotide variant | Chr19:13025409 | Pathogenic | Missense variant | rs1555696625 |
.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences |
| NM_001365902.3(NFIX):c.1087dup (p.Arg363fs) | Duplication | Chr19:13081683 - 13081684 | Pathogenic | Frameshift variant | rs886041647 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001205254.2(OCLN):c.1542del (p.Gly515fs) | Deletion | Chr5:69553643 | Likely pathogenic | Frameshift variant | rs2531231205 |
.Lifecell International Pvt. Ltd |
| NM_000535.7(PMS2):c.1239dup (p.Asp414fs) | Duplication | Chr7:5987525 - 5987526 | Pathogenic | Frameshift variant|non-coding transcript variant | rs267608159 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) | Single nucleotide variant | Chr7:5977629 | Pathogenic | Nonsense|non-coding transcript variant | rs63751466 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_006941.4(SOX10):c.1400A>T (p.Ter467Leu) | Single nucleotide variant | Chr22:37973496 | Likely pathogenic | Stop lost|intron variant | rs2145760379 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_006941.4(SOX10):c.644G>A (p.Arg215Gln) | Single nucleotide variant | Chr22:37977920 | Conflicting classifications of pathogenicity | Missense variant|intron variant | rs779933527 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter) | Single nucleotide variant | Chr19:38517520 | Pathogenic/Likely pathogenic | Nonsense | rs752199191 |
.Lifecell International Pvt. Ltd |
| NM_004168.4(SDHA):c.448G>A (p.Val150Met) | Single nucleotide variant | Chr5:225554 | Uncertain significance | Missense variant|intron variant | rs542980860 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_018344.6(SLC29A3):c.400C>T (p.Arg134Cys) | Single nucleotide variant | Chr10:71351578 | Pathogenic/Likely pathogenic | Missense variant|non-coding transcript variant | rs1430557607 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_003172.4(SURF1):c.535dup (p.Arg179fs) | Duplication | Chr9:133352746 - 133352747 | Pathogenic/Likely pathogenic | Frameshift variant | rs1836465016 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_003172.4(SURF1):c.833+1G>A | Single nucleotide variant | Chr9:133352060 | Pathogenic | Splice donor variant | rs782609482 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_003172.4(SURF1):c.799_800del (p.Leu267fs) | Microsatellite | Chr9:133352094 - 133352095 | Pathogenic/Likely pathogenic | Frameshift variant | rs864309500 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_003172.4(SURF1):c.324-11T>G | Single nucleotide variant | Chr9:133353951 | Conflicting classifications of pathogenicity | Intron variant | rs375398247 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Lifecell International Pvt. Ltd |
| NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) | Single nucleotide variant | Chr8:93765413 | Pathogenic/Likely pathogenic | Nonsense|non-coding transcript variant | rs765468645 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
| NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe) | Single nucleotide variant | Chr8:93797456 | Conflicting classifications of pathogenicity | Missense variant|non-coding transcript variant | rs863225238 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000377.3(WAS):c.1271dup (p.Leu425fs) | Duplication | ChrX:48688994 - 48688995 | Pathogenic | Frameshift variant | rs1557007312 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000377.3(WAS):c.881T>C (p.Ile294Thr) | Single nucleotide variant | ChrX:48688403 | Pathogenic/Likely pathogenic | Missense variant | rs387906717 |
.Lifecell International Pvt. Ltd |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution