All variants in the VSX2 gene

Information The variants shown are described using the NM_182894.2 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.242C>T r.(?) p.(Pro81Leu) - likely benign g.74706506C>T g.74239803C>T VSX2(NM_182894.2):c.242C>T (p.P81L) - VSX2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.244G>A r.(?) p.(Gly82Arg) - VUS g.74706508G>A - VSX2(NM_182894.3):c.244G>A (p.(Gly82Arg)) - VSX2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.248G>T r.(?) p.(Gly83Val) - VUS g.74706512G>T g.74239809G>T VSX2(NM_182894.2):c.248G>T (p.G83V) - VSX2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.249G>A r.(?) p.(Gly83=) - likely benign g.74706513G>A g.74239810G>A VSX2(NM_182894.2):c.249G>A (p.G83=) - VSX2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.270G>T r.(?) p.(Gln90His) - VUS g.74706534G>T - VSX2(NM_182894.3):c.270G>T (p.(Gln90His)) - VSX2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.344T>C r.(?) p.(Leu115Pro) - VUS g.74706608T>C - VSX2(NM_182894.2):c.344T>C (p.L115P) - VSX2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.413_425del r.(?) p.(Ser138Ter) - pathogenic (recessive) g.74707927_74707939del g.74241224_74241236del - - VSX2_000020 - PubMed: Basharat 2023, Journal: Basharat 2023 - - Germline yes - - - - Rabia Basharat
?/. - c.455G>A r.(?) p.(Arg152Lys) - VUS g.74707969G>A g.74241266G>A - - VSX2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.455G>A r.(?) p.(Arg152Lys) - pathogenic g.74707969G>A g.74241266G>A - - VSX2_000002 - PubMed: Haer-Wigman 2017 - - Germline - - - - - LOVD
-/. - c.471C>T r.(?) p.(Ser157=) - benign g.74711883C>T g.74245180C>T VSX2(NM_182894.3):c.471C>T (p.S157=) - VSX2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.471C>T r.(?) p.(Ser157=) - benign g.74711883C>T g.74245180C>T VSX2(NM_182894.3):c.471C>T (p.S157=) - VSX2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 3 c.471C>T r.(?) p.(Ser157=) - likely benign g.74711883C>T g.74245180C>T CHX10 Ser157Ser (c.471C>T) - VSX2_000001 genotype, cases (%), controls(%): CC, 99, 0.92%, 84, 0.903%; CT, 8, 0.074%, 9, 0.097%; TT, 1, 0.009%, 0, 0.0% PubMed: Aung 2008 - rs35435463 Unknown ? genotype, cases (%), controls(%): CC, 99, 0.92%, 84, 0.903%; CT, 8, 0.074%, 9, 0.097%; TT, 1, 0.009%, 0, 0.0% - - - LOVD
-?/. - c.531C>T r.(?) p.(Ala177=) - likely benign g.74711943C>T g.74245240C>T VSX2(NM_182894.2):c.531C>T (p.A177=) - VSX2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.538A>T r.(?) p.(Met180Leu) - VUS g.74711950A>T g.74245247A>T VSX2(NM_182894.2):c.538A>T (p.M180L) - VSX2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.609G>A r.(?) p.(Trp203Ter) - pathogenic g.74726334G>A g.74259631G>A - - VSX2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.609G>A r.(?) p.(Trp203*) - pathogenic g.74726334G>A g.74259631G>A - - VSX2_000004 - PubMed: Haer-Wigman 2017 - - Germline - - - - - LOVD
?/. - c.617G>A r.(?) p.(Arg206Gln) - VUS g.74726342G>A g.74259639G>A VSX2(NM_182894.2):c.617G>A (p.R206Q) - VSX2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.654G>T r.(?) p.(Glu218Asp) - VUS g.74726379G>T - VSX2(NM_182894.2):c.654G>T (p.E218D) - VSX2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 3 c.667G>A r.(?) p.(Gly223Arg) - likely pathogenic g.74726392G>A g.74259689G>A VSX2 c.667G>A, p.Gly223Arg - VSX2_000016 homozygous PubMed: Matias-Perez 2018 - - Germline yes absent in 240 in-house exomes alleles from Mexican individuals without ocular malformations - - - LOVD
?/. - c.712A>C r.(?) p.(Lys238Gln) - VUS g.74726437A>C - VSX2(NM_182894.2):c.712A>C (p.K238Q) - VSX2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 4 c.728G>A r.(?) p.(Gly243Asp) - likely benign g.74726453G>A g.74259750G>A CHX10 Gly243Asp (c.728G>A) - VSX2_000017 genotype, cases (%), controls(%): GG, 107, 0.99%, 93, 1.0%; GA, 1, 0.01%, 0, 0.0%; AA, 0, 0.0%, 0, 0.0% PubMed: Aung 2008 - - Unknown ? genotype, cases (%), controls(%): GG, 107, 0.99%, 93, 1.0%; GA, 1, 0.01%, 0, 0.0%; AA, 0, 0.0%, 0, 0.0% - - - LOVD
?/. - c.728G>A r.(?) p.(Gly243Asp) - VUS g.74726453G>A g.74259750G>A - - VSX2_000017 - PubMed: Li 2016 - - Germline - - - - - Johan den Dunnen
-?/. 4 c.750G>A r.(?) p.(Pro250=) - likely benign g.74726475G>A g.74259772G>A CHX10 Pro250Pro (c.750G>A) - VSX2_000018 genotype, cases (%), controls(%): GG, 107, 0.99%, 87, 0.94%; GA, 1, 0.01%, 6, 0.06%; AA, 0, 0.0%, 0, 0.0% PubMed: Aung 2008 - - Unknown ? genotype, cases (%), controls(%): GG, 107, 0.99%, 87, 0.94%; GA, 1, 0.01%, 6, 0.06%; AA, 0, 0.0%, 0, 0.0% - - - LOVD
?/. - c.855G>C r.(?) p.(Gln285His) - VUS g.74727391G>C - VSX2(NM_182894.3):c.855G>C (p.(Gln285His)) - VSX2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 5 c.871G>A r.(?) p.(Asp291Asn) - likely benign g.74727407G>A g.74260704G>A CHX10 Asp291Asn (c.871G>A) - VSX2_000019 genotype, cases (%), controls(%): GG, 101, 0.94%, 85, 0.91%; GA, 7, 0.06%, 8, 0.09%; AA, 0, 0.0%, 0, 0.0% PubMed: Aung 2008 - - Unknown ? genotype, cases (%), controls(%): GG, 101, 0.94%, 85, 0.91%; GA, 7, 0.06%, 8, 0.09%; AA, 0, 0.0%, 0, 0.0% - - - LOVD
?/. - c.916A>G r.(?) p.(Ile306Val) - VUS g.74727452A>G - VSX2(NM_182894.3):c.916A>G (p.(Ile306Val)) - VSX2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.939T>A r.(?) p.(Ala313=) - likely benign g.74727475T>A - VSX2(NM_182894.2):c.939T>A (p.A313=) - VSX2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*1302G>A r.(=) p.(=) - likely benign g.74728924G>A g.74262221G>A - - VSX2_000010 33 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs8020424 Germline - 33/2794 individuals - - - Mohammed Faruq
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