ClinVar Miner

List of variants in gene VPS13B studied for History of neurodevelopmental disorder

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Gene type:
ClinVar version:
Total variants: 135
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HGVS dbSNP
NM_015243.2(VPS13B):c.1041A>G (p.Ser347=) rs149176010
NM_015243.2(VPS13B):c.1073G>A (p.Ser358Asn)
NM_015243.2(VPS13B):c.1248G>T (p.Gln416His) rs143024324
NM_015243.2(VPS13B):c.1289G>C (p.Gly430Ala) rs147448147
NM_015243.2(VPS13B):c.1293T>G (p.Thr431=) rs77759532
NM_015243.2(VPS13B):c.1440C>T (p.Phe480=) rs141324814
NM_015243.2(VPS13B):c.1536A>G (p.Glu512=) rs145969836
NM_015243.2(VPS13B):c.1551A>C (p.Ser517=)
NM_015243.2(VPS13B):c.1586G>A (p.Gly529Glu)
NM_015243.2(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319
NM_015243.2(VPS13B):c.1782T>C (p.Ile594=) rs145648860
NM_015243.2(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109
NM_015243.2(VPS13B):c.1981G>A (p.Asp661Asn) rs149334616
NM_015243.2(VPS13B):c.2048A>G (p.Gln683Arg)
NM_015243.2(VPS13B):c.2275G>C (p.Val759Leu) rs140848350
NM_015243.2(VPS13B):c.2383A>G (p.Asn795Asp)
NM_015243.2(VPS13B):c.2451T>C (p.His817=) rs114120664
NM_015243.2(VPS13B):c.2473G>A (p.Ala825Thr) rs148788159
NM_015243.2(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721
NM_015243.2(VPS13B):c.365C>T (p.Pro122Leu) rs201723380
NM_015243.2(VPS13B):c.505C>A (p.Leu169Ile)
NM_015243.2(VPS13B):c.711T>C (p.Arg237=)
NM_015243.2(VPS13B):c.723A>G (p.Thr241=)
NM_015243.2(VPS13B):c.90A>G (p.Leu30=)
NM_015243.2(VPS13B):c.983A>G (p.His328Arg) rs181625846
NM_017890.4(VPS13B):c.10017+4A>G
NM_017890.4(VPS13B):c.10018G>A (p.Val3340Ile) rs116746734
NM_017890.4(VPS13B):c.10034G>T (p.Gly3345Val) rs1563506534
NM_017890.4(VPS13B):c.10124C>T (p.Thr3375Ile) rs138127778
NM_017890.4(VPS13B):c.10127A>T (p.Asn3376Ile) rs111353525
NM_017890.4(VPS13B):c.10140G>T (p.Ala3380=) rs61753726
NM_017890.4(VPS13B):c.10230G>A (p.Glu3410=) rs115369860
NM_017890.4(VPS13B):c.10294G>A (p.Gly3432Arg) rs6468694
NM_017890.4(VPS13B):c.10310C>T (p.Ala3437Val) rs112045467
NM_017890.4(VPS13B):c.10312G>T (p.Ala3438Ser)
NM_017890.4(VPS13B):c.10315T>C (p.Leu3439=) rs145279584
NM_017890.4(VPS13B):c.10631T>C (p.Leu3544Ser) rs1563510051
NM_017890.4(VPS13B):c.10643A>G (p.Tyr3548Cys) rs398124326
NM_017890.4(VPS13B):c.10687G>A (p.Gly3563Arg) rs150767461
NM_017890.4(VPS13B):c.10718C>T (p.Thr3573Ile)
NM_017890.4(VPS13B):c.10756C>T (p.Arg3586Trp)
NM_017890.4(VPS13B):c.10819A>G (p.Ile3607Val) rs145547375
NM_017890.4(VPS13B):c.10920C>T (p.Ala3640=) rs781485612
NM_017890.4(VPS13B):c.10956G>A (p.Gly3652=)
NM_017890.4(VPS13B):c.10980T>C (p.Pro3660=) rs61754107
NM_017890.4(VPS13B):c.11007C>T (p.Asn3669=) rs745337140
NM_017890.4(VPS13B):c.11013C>T (p.Val3671=) rs758028194
NM_017890.4(VPS13B):c.11017G>A (p.Asp3673Asn)
NM_017890.4(VPS13B):c.11049C>G (p.Thr3683=)
NM_017890.4(VPS13B):c.11121T>A (p.Gly3707=) rs1178600682
NM_017890.4(VPS13B):c.11146G>A (p.Ala3716Thr) rs142476821
NM_017890.4(VPS13B):c.11233G>A (p.Glu3745Lys) rs150393340
NM_017890.4(VPS13B):c.11256A>G (p.Arg3752=) rs138667007
NM_017890.4(VPS13B):c.11270G>A (p.Arg3757Gln) rs149318176
NM_017890.4(VPS13B):c.11387C>T (p.Ser3796Leu) rs142516047
NM_017890.4(VPS13B):c.11388G>A (p.Ser3796=)
NM_017890.4(VPS13B):c.11570+4A>G rs1563519738
NM_017890.4(VPS13B):c.11640A>G (p.Ser3880=) rs7844645
NM_017890.4(VPS13B):c.11688C>T (p.Phe3896=) rs139436386
NM_017890.4(VPS13B):c.11694G>C (p.Val3898=) rs113454700
NM_017890.4(VPS13B):c.11825_11827dup (p.Asp3942dup) rs386834068
NM_017890.4(VPS13B):c.2596G>A (p.Val866Ile) rs150185067
NM_017890.4(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544
NM_017890.4(VPS13B):c.2760A>G (p.Leu920=) rs138661755
NM_017890.4(VPS13B):c.2917A>G (p.Ser973Gly)
NM_017890.4(VPS13B):c.3075G>A (p.Thr1025=) rs141637316
NM_017890.4(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722
NM_017890.4(VPS13B):c.3204A>G (p.Thr1068=)
NM_017890.4(VPS13B):c.3243A>G (p.Pro1081=) rs34961653
NM_017890.4(VPS13B):c.3249T>G (p.Asp1083Glu) rs1196083061
NM_017890.4(VPS13B):c.3363A>G (p.Ile1121Met) rs191099208
NM_017890.4(VPS13B):c.3382C>A (p.His1128Asn) rs1563732631
NM_017890.4(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485
NM_017890.4(VPS13B):c.3413C>T (p.Pro1138Leu) rs35342235
NM_017890.4(VPS13B):c.3465G>A (p.Thr1155=)
NM_017890.4(VPS13B):c.3516A>G (p.Thr1172=) rs118158347
NM_017890.4(VPS13B):c.3621C>T (p.Leu1207=)
NM_017890.4(VPS13B):c.3744A>G (p.Leu1248=) rs16897391
NM_017890.4(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934
NM_017890.4(VPS13B):c.3837C>T (p.Cys1279=) rs34941871
NM_017890.4(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846
NM_017890.4(VPS13B):c.4197T>C (p.Gly1399=) rs149796549
NM_017890.4(VPS13B):c.4247G>A (p.Arg1416Gln) rs75933366
NM_017890.4(VPS13B):c.4281C>T (p.Cys1427=) rs1563767252
NM_017890.4(VPS13B):c.4431A>T (p.Leu1477Phe)
NM_017890.4(VPS13B):c.5064C>A (p.Pro1688=)
NM_017890.4(VPS13B):c.5287G>C (p.Ala1763Pro)
NM_017890.4(VPS13B):c.5324A>G (p.Asp1775Gly)
NM_017890.4(VPS13B):c.5470C>T (p.Arg1824Cys)
NM_017890.4(VPS13B):c.5544A>G (p.Leu1848=)
NM_017890.4(VPS13B):c.5576C>T (p.Ser1859Leu) rs144257406
NM_017890.4(VPS13B):c.5577G>A (p.Ser1859=)
NM_017890.4(VPS13B):c.5592G>A (p.Gln1864=) rs61742808
NM_017890.4(VPS13B):c.5681C>T (p.Thr1894Met) rs117148013
NM_017890.4(VPS13B):c.5682G>A (p.Thr1894=) rs368851580
NM_017890.4(VPS13B):c.5816G>A (p.Arg1939Gln) rs150272676
NM_017890.4(VPS13B):c.5965T>C (p.Ser1989Pro) rs148704031
NM_017890.4(VPS13B):c.5980A>G (p.Ile1994Val) rs139640224
NM_017890.4(VPS13B):c.6131A>G (p.Asn2044Ser)
NM_017890.4(VPS13B):c.6253A>G (p.Met2085Val)
NM_017890.4(VPS13B):c.6491A>G (p.Asn2164Ser) rs142248228
NM_017890.4(VPS13B):c.6530-4dupT rs398124337
NM_017890.4(VPS13B):c.6605G>A (p.Arg2202His)
NM_017890.4(VPS13B):c.6823C>T (p.Gln2275Ter)
NM_017890.4(VPS13B):c.7005G>A (p.Gly2335=)
NM_017890.4(VPS13B):c.7038A>G (p.Val2346=) rs61753724
NM_017890.4(VPS13B):c.7052G>A (p.Arg2351Gln) rs61754113
NM_017890.4(VPS13B):c.7115A>G (p.Asp2372Gly) rs1563881705
NM_017890.4(VPS13B):c.7227G>A (p.Pro2409=) rs61753725
NM_017890.4(VPS13B):c.7270G>A (p.Asp2424Asn) rs1563907935
NM_017890.4(VPS13B):c.7337C>G (p.Ser2446Cys)
NM_017890.4(VPS13B):c.7413T>C (p.Phe2471=) rs150771329
NM_017890.4(VPS13B):c.7751T>C (p.Val2584Ala) rs7833870
NM_017890.4(VPS13B):c.7753G>A (p.Glu2585Lys) rs111751379
NM_017890.4(VPS13B):c.7783G>A (p.Asp2595Asn) rs140179844
NM_017890.4(VPS13B):c.7787C>T (p.Ser2596Phe) rs145208175
NM_017890.4(VPS13B):c.7791A>G (p.Val2597=)
NM_017890.4(VPS13B):c.7941G>A (p.Val2647=)
NM_017890.4(VPS13B):c.7971T>A (p.Ser2657Arg) rs1563916146
NM_017890.4(VPS13B):c.8074G>A (p.Val2692Met) rs1250056053
NM_017890.4(VPS13B):c.8246A>G (p.Tyr2749Cys) rs138453594
NM_017890.4(VPS13B):c.8323A>G (p.Ile2775Val) rs1465869942
NM_017890.4(VPS13B):c.8524G>A (p.Val2842Met) rs1362379578
NM_017890.4(VPS13B):c.8645C>T (p.Pro2882Leu) rs145890213
NM_017890.4(VPS13B):c.8917A>G (p.Ile2973Val)
NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) rs28940272
NM_017890.4(VPS13B):c.9169G>T (p.Asp3057Tyr) rs140095832
NM_017890.4(VPS13B):c.9320A>G (p.Asp3107Gly) rs1563492523
NM_017890.4(VPS13B):c.9424A>G (p.Ser3142Gly) rs113671330
NM_017890.4(VPS13B):c.9444C>T (p.Cys3148=) rs745668942
NM_017890.4(VPS13B):c.9567T>C (p.Ser3189=) rs36074608
NM_017890.4(VPS13B):c.9667C>T (p.Arg3223Trp) rs149842139
NM_017890.4(VPS13B):c.9858C>T (p.Ser3286=)
NM_017890.4(VPS13B):c.9943T>C (p.Leu3315=) rs1391149548
NM_017890.4(VPS13B):c.9996C>T (p.Asp3332=)

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