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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
 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
 Athina Mourtzaki linked the publication Multiple Sequence Variants in STAC3 Affect Interactions with Ca​V​1.1 and Excitation-Contraction Coupling.​ to STAC3(NM_145064.3):c.806C>G
 Athina Mourtzaki linked the publication Multiple Sequence Variants in STAC3 Affect Interactions with Ca​V​1.1 and Excitation-Contraction Coupling.​ to STAC3(NM_145064.3):c.842A>G
 Athina Mourtzaki linked the publication Multiple Sequence Variants in STAC3 Affect Interactions with Ca​V​1.1 and Excitation-Contraction Coupling.​ to STAC3(NM_145064.3):c.932A>G
 Athina Mourtzaki linked the publication Multiple Sequence Variants in STAC3 Affect Interactions with Ca​V​1.1 and Excitation-Contraction Coupling.​ to STAC3(NM_145064.3):c.883T>C
 Athina Mourtzaki linked the publication Multiple Sequence Variants in STAC3 Affect Interactions with Ca​V​1.1 and Excitation-Contraction Coupling.​ to STAC3(NM_145064.3):c.987G>T
 Athina Mourtzaki linked the publication Multiple Sequence Variants in STAC3 Affect Interactions with Ca​V​1.1 and Excitation-Contraction Coupling.​ to STAC3(NM_145064.3):c.850_852delTGGinsAGT
 Athina Mourtzaki linked the publication Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran.​ to TBC1D20(NM_144628.4):c.1060C>T
 Athina Mourtzaki linked the publication Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis.​ to REEP1(NM_001371279.1):c.73A>G
 Athina Mourtzaki linked the publication Oxygen and nitrite reduction by heme-deficient sulphite oxidase in a patient with mild sulphite oxidase deficiency.​ to SUOX(NM_001032386.2):c.427C>A
 Athina Mourtzaki linked the publication Variation at ACOT12 and CT62 locus represents susceptibility to psoriasis in Han population.​ to SPRED1(NM_152594.3):c.155A>G
 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
 Mahshid Fattahi [Codon Genetics Group] classified CLCN1(NM_000083.3):c.1355C>T as Likely Pathogenic
 Mendel Roth [Genben Lifesciences] classified LIPG(NM_006033.4):c.623T>A as Uncertain Significance
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 13.1.2 Release Note

VarSome & VarSome Clinical v.13.1.2

Version 13.1.2 of VarSome and VarSome Clinical was released on 15 March 2025 to address minor performance issues:

  • Users can now modify phenotypic data, including adding phenotypic data to finished analyses
  • Fix of potential failures of multi-sample analyses using existing analyses
  • "Sample metrics" column display has been updated
  • "CNV Gene Lists" can now be launched from the "Action Menu"
  • Refinements were also made to the somatic classifier to address an issue with how Jax CKB determines variant effect that was leading to some variants being incorrectly reported as relevant. We have implemented an overrule to the "Protein Effect" information coming from Jax CKB, whereby if the germline classifier indicates that a variant is Benign or Likely Benign "Protein Effect" data from Jax CKB will not be considered. We have also upgraded Levels Dx2, Dx3, Px2, and Px3 coming from OncoKB to be accounted for as Tier I evidence.

Read more