ClinVar Miner

List of variants in gene WASHC5 studied for Ritscher-Schinzel syndrome

Included ClinVar conditions (5):
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Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP
NC_000008.11:g.(?_125024607)_(125044104_?)del
NM_014846.4(WASHC5):c.1151-2A>G rs1563627853
NM_014846.4(WASHC5):c.1151-8G>A rs16900335
NM_014846.4(WASHC5):c.1178G>A (p.Arg393His) rs151298198
NM_014846.4(WASHC5):c.1187A>G (p.Lys396Arg) rs142423043
NM_014846.4(WASHC5):c.1245A>G (p.Leu415=) rs10429323
NM_014846.4(WASHC5):c.1297T>C (p.Ser433Pro) rs766713240
NM_014846.4(WASHC5):c.12T>C (p.Phe4=) rs202120400
NM_014846.4(WASHC5):c.1408+7A>G rs16900312
NM_014846.4(WASHC5):c.1605C>T (p.Ile535=) rs143654828
NM_014846.4(WASHC5):c.1650C>T (p.Ile550=) rs780912744
NM_014846.4(WASHC5):c.166T>C (p.Phe56Leu) rs751591590
NM_014846.4(WASHC5):c.1688+10del rs757113799
NM_014846.4(WASHC5):c.1689-4A>G rs777297323
NM_014846.4(WASHC5):c.1705C>G (p.Gln569Glu)
NM_014846.4(WASHC5):c.1728A>G (p.Pro576=) rs767965256
NM_014846.4(WASHC5):c.1747A>G (p.Arg583Gly) rs761801345
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) rs1554593901
NM_014846.4(WASHC5):c.1772C>T (p.Ser591Phe) rs1554593899
NM_014846.4(WASHC5):c.1785G>T (p.Leu595=) rs1044612540
NM_014846.4(WASHC5):c.1818C>T (p.Pro606=) rs140063111
NM_014846.4(WASHC5):c.187-3C>T rs16900368
NM_014846.4(WASHC5):c.187-6T>C rs200227798
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe) rs80338867
NM_014846.4(WASHC5):c.1883A>G (p.Gln628Arg)
NM_014846.4(WASHC5):c.1892C>T (p.Pro631Leu) rs1586359734
NM_014846.4(WASHC5):c.1901T>A (p.Met634Lys)
NM_014846.4(WASHC5):c.1942G>A (p.Asp648Asn) rs758919422
NM_014846.4(WASHC5):c.2003G>T (p.Gly668Val) rs763639768
NM_014846.4(WASHC5):c.2016+10C>G rs1260941212
NM_014846.4(WASHC5):c.2086G>A (p.Gly696Ser) rs1060502725
NM_014846.4(WASHC5):c.2087G>A (p.Gly696Asp) rs397515564
NM_014846.4(WASHC5):c.2090_2092TCA[1] (p.Ile698del) rs1554593551
NM_014846.4(WASHC5):c.2100G>A (p.Val700=) rs148936723
NM_014846.4(WASHC5):c.2158T>G (p.Phe720Val) rs1586352875
NM_014846.4(WASHC5):c.2190T>C (p.Pro730=) rs955321507
NM_014846.4(WASHC5):c.2199+5C>G rs149763012
NM_014846.4(WASHC5):c.2332A>G (p.Ile778Val)
NM_014846.4(WASHC5):c.2410A>G (p.Thr804Ala)
NM_014846.4(WASHC5):c.2422A>G (p.Ile808Val) rs144507279
NM_014846.4(WASHC5):c.2430G>C (p.Lys810Asn) rs140742485
NM_014846.4(WASHC5):c.2485C>T (p.Leu829=) rs80242901
NM_014846.4(WASHC5):c.2769C>T (p.Val923=) rs545318648
NM_014846.4(WASHC5):c.2771-7T>C rs142685897
NM_014846.4(WASHC5):c.2789A>C (p.Tyr930Ser)
NM_014846.4(WASHC5):c.2829G>A (p.Ala943=) rs369339497
NM_014846.4(WASHC5):c.2971A>G (p.Ile991Val) rs1554591077
NM_014846.4(WASHC5):c.3020_3021AC[2] (p.Leu1009fs) rs765926045
NM_014846.4(WASHC5):c.3047A>G (p.Tyr1016Cys) rs767608029
NM_014846.4(WASHC5):c.316A>G (p.Ile106Val) rs142907217
NM_014846.4(WASHC5):c.3181+4C>T rs372154199
NM_014846.4(WASHC5):c.3210G>A (p.Pro1070=) rs200733182
NM_014846.4(WASHC5):c.3225A>G (p.Pro1075=) rs34569226
NM_014846.4(WASHC5):c.3269G>A (p.Arg1090Gln) rs762522662
NM_014846.4(WASHC5):c.3291G>A (p.Ala1097=) rs11542889
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) rs138407503
NM_014846.4(WASHC5):c.3329G>A (p.Cys1110Tyr)
NM_014846.4(WASHC5):c.3335+2T>A rs398123007
NM_014846.4(WASHC5):c.3356C>G (p.Pro1119Arg)
NM_014846.4(WASHC5):c.413T>G (p.Leu138Arg) rs1563636568
NM_014846.4(WASHC5):c.420T>A (p.Cys140Ter) rs148562491
NM_014846.4(WASHC5):c.450A>G (p.Leu150=) rs778468473
NM_014846.4(WASHC5):c.451C>T (p.Leu151=) rs6470336
NM_014846.4(WASHC5):c.511C>T (p.Arg171Ter) rs1462319941
NM_014846.4(WASHC5):c.526C>T (p.Arg176Ter) rs1362286755
NM_014846.4(WASHC5):c.555T>C (p.Asp185=) rs145934920
NM_014846.4(WASHC5):c.572G>A (p.Arg191Gln) rs1586384678
NM_014846.4(WASHC5):c.597A>G (p.Pro199=) rs7812319
NM_014846.4(WASHC5):c.612A>G (p.Pro204=) rs376240904
NM_014846.4(WASHC5):c.617A>G (p.Asn206Ser) rs150026441
NM_014846.4(WASHC5):c.625G>A (p.Glu209Lys)
NM_014846.4(WASHC5):c.647C>T (p.Pro216Leu) rs72720524
NM_014846.4(WASHC5):c.682C>T (p.Arg228Ter) rs754463353
NM_014846.4(WASHC5):c.689G>A (p.Arg230Lys)
NM_014846.4(WASHC5):c.704dup (p.Tyr235Ter) rs1563633906
NM_014846.4(WASHC5):c.732G>A (p.Pro244=) rs146320386
NM_014846.4(WASHC5):c.735G>C (p.Glu245Asp)
NM_014846.4(WASHC5):c.860A>G (p.Asn287Ser)
NM_014846.4(WASHC5):c.863G>C (p.Trp288Ser)
NM_014846.4(WASHC5):c.867A>C (p.Val289=) rs79464415
NM_014846.4(WASHC5):c.872G>A (p.Ser291Asn) rs753529606
NM_014846.4(WASHC5):c.875T>C (p.Ile292Thr)
NM_014846.4(WASHC5):c.96C>G (p.Leu32=) rs1060504698

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