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The Human Genomics Community

hg38
hg38
hg19
rs746753722
NM_017882.3(CLN6):c.679G>A
SYNGR1:c.607_608insACA
BRAF:V600E
5:156479558:15:
7-151945072--T
5:156479558
BRAF
NM_002482
chr2:47630263:47639699:DEL
AGTCCRAGTTGTAAATGGTACACTCGGCGTAAGCCTGAAAAGATAAAATCAAAGATGTAAAGGTGAGCACAGTCTAAGTTCTCTCTGAAGTGTCAATGGGAATGCAGATTGGATTAAATAAATGCTGCCCAAGTGCATACTCAAAGAGGC
Examples

Some useful examples to help you get started

Germline Variants

rs746753722 or CLN6 E227K or NM_017882.3(CLN6):c.679G>A or 15:68500735:A:T

TP53:R175L or NM_000546:R175L or NM_000546(TP53):p.Arg175Leu or TP53:c.524G>T or chr17-7675088-C-A or rs28934578

rs113488022, rs376932266

BRAF:c.1799T>G, FTO:c.46-43098T>C,

SYNGR1:c.607_608insACA,  
BAIAP2L2:c.1322_1363del

15-73027478-T-C, X 153418497 C G

Deletions

chr2:131129929:CTGAAA:, chr13:38320595:GT:, 5:156479558:15:

Insertions

chr22:39777823::CAA, 7-151945072--T

CNVs

chr17:37800000:L100000:DUP, chr11:21200000:L90000:DEL, chr7:117138367:117159446:DEL, 

chr3:37039445:37059613:DUP, chr21:36160098:36171759:DEL, chr1:110230496:110235917:DUP, 

chr21:36160098:36171759:DEL, chr17:43098764:43110978:DEL, chr13:32317656:32331987:DUP,

chr8:127734450:127764981:DUP, chr1:13308329:13308887:DEL

Single Reads - NGS or Sanger

AGTCCRAGTTGTAAATGGTACACTCGGCGTAAGCCTGAAAAGATAAAATCAAAGATGTAAAGGTGAGCACAGTCTAAGTTCTCTCTGAAGTGTCAATGGGAATGCAGATTGGATTAAATAAATGCTGCCCAAGTGCATACTCAAAGAGGC

Cancer Variants

with AMP classification

BRAF:V600E

KRAS:G12D

TP53:R273H

Genes

BRCA1, EGFR, HGNC:1097, 
ENTREZ:1956, UNIPROT:B7ZA85

Transcripts

NM_001276760

Transcript / Genomic Position

HAVCR1:c.487 
5:156479558

More Examples

Source Databases
Recent VarSome activity
 Athina Mourtzaki linked the publication A New Variant of PKLR Gene Associated With Mild Hemolysis may be Responsible for the Misdiagnosis in Pyruvate Kinase Deficiency.​ to PKLR(NM_000298.6):c.1708G>T
 Athina Mourtzaki linked the publication Recurrent pulmonary embolism associated with deep venous thrombosis diagnosed as protein s deficiency owing to a novel mutation in PROS1: A case report.​ to PROS1(NM_000313.4):c.1792G>T
 Athina Mourtzaki linked the publication A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report.​ to POLR3A(NM_007055.4):c.2423G>A
 Athina Mourtzaki linked the publication A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.​ to PGM3(NM_015599.3):c.1135T>C
 Ioannis Liopetas linked the publication Polo-like kinase 2 modulates α-synuclein protein levels by regulating its mRNA production.​ to SNCA(NM_007308.3):c.307-2539T>G
 Athina Mourtzaki linked the publication Residual pyruvate kinase activity in PKLR-deficient erythroid precursors of a patient suffering from severe haemolytic anaemia.​ to PKLR(NM_000298.6):c.583G>A
 Ioannis Liopetas linked the publication Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy.​ to STAC3(NM_145064.3):c.432+4A>T
 Ioannis Liopetas linked the publication Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy.​ to STAC3(NM_145064.3):c.862A>T
 Athina Mourtzaki linked the publication Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene.​ to PKLR(NM_000298.6):c.966-1G>T
 Ioannis Liopetas linked the publication Sepiapterin reductase deficiency: Report of 5 new cases.​ to SPR(NM_003124.5):c.1A>G
 Mendel Roth [Genben Lifesciences] classified PPARG(NM_138711.6):c.1045G>A as Uncertain Significance
 Mendel Roth [Genben Lifesciences] classified LCAT(NM_000229.2):c.523+2T>A as Likely Pathogenic
 Mendel Roth [Genben Lifesciences] classified PCSK9(NM_174936.4):c.100G>C as Uncertain Significance
 Nelmar Valentina Ortiz Cabrera [Niño Jesús University Childrens Hospital] classified STK11(NM_000455.5):c.920+5G>A as Likely Benign
 Alexej Knaus [University Hospital Bonn] classified COL3A1(NM_000090.4):c.529-14A>G as Pathogenic
 Irina Mersiyanova [Dmitry Rogachev National Medical Research Centre] classified SMARCD2(NM_001098426.2):c.567+5G>A as Likely Pathogenic
 Mendel Roth [Genben Lifesciences] classified NOS3(NM_000603.5):c.2414A>C as Uncertain Significance
 Mendel Roth [Genben Lifesciences] classified CETP(NM_000078.3):c.464_467del as Likely Pathogenic
 Nelmar Valentina Ortiz Cabrera [Niño Jesús University Childrens Hospital] classified ROR2(NM_004560.4):c.1398dup as Pathogenic
 Nadide Cemre Zubari [EuroGene] classified EMC10(NM_206538.4):c.431del as Pathogenic
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VarSome & VarSome Clinical v.13.2.0

Version 13.2.0 of VarSome and VarSome Clinical was released on 27 March 2025.
Summary of Key New Features

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