57731[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 1260689	NM_020971.3(SPTBN4):c.-15-61G>A	SPTBN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2261645	NM_020971.3(SPTBN4):c.11T>C (p.Val4Ala)	SPTBN4 (V4A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037728	NM_020971.3(SPTBN4):c.42G>A (p.Leu14=)	SPTBN4	Single nucleotide variant (synonymous variant)	SPTBN4-related disorder	GLikely benign
Select item 2248959	NM_020971.3(SPTBN4):c.62C>T (p.Pro21Leu)	SPTBN4 (P21L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2436468	NM_020971.3(SPTBN4):c.64G>A (p.Ala22Thr)	SPTBN4 (A22T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GUncertain significance
Select item 2912792	NM_020971.3(SPTBN4):c.71G>A (p.Arg24His)	SPTBN4 (R24H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2402835	NM_020971.3(SPTBN4):c.83C>T (p.Pro28Leu)	SPTBN4 (P28L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484700	NM_020971.3(SPTBN4):c.88C>G (p.Arg30Gly)	SPTBN4 (R30G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462161	NM_020971.3(SPTBN4):c.100C>T (p.Arg34Trp)	SPTBN4 (R34W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1286328	NM_020971.3(SPTBN4):c.112G>A (p.Ala38Thr)	SPTBN4 (A38T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness +1 more	GBenign
Select item 3169582	NM_020971.3(SPTBN4):c.115G>T (p.Ala39Ser)	SPTBN4 (A39S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770657	NM_020971.3(SPTBN4):c.116C>T (p.Ala39Val)	SPTBN4 (A39V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2229563	NM_020971.3(SPTBN4):c.128C>T (p.Ala43Val)	SPTBN4 (A43V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249211	NM_020971.3(SPTBN4):c.158A>G (p.Lys53Arg)	SPTBN4 (K53R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1804223	NM_020971.3(SPTBN4):c.160G>A (p.Ala54Thr)	SPTBN4 (A54T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224590	NM_020971.3(SPTBN4):c.169+63C>T	SPTBN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262681	NM_020971.3(SPTBN4):c.169+172C>A	SPTBN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278919	NM_020971.3(SPTBN4):c.170-188C>T	SPTBN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2614943	NM_020971.3(SPTBN4):c.215A>G (p.Asn72Ser)	SPTBN4 (N72S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048475	NM_020971.3(SPTBN4):c.225C>T (p.Leu75=)	SPTBN4	Single nucleotide variant (synonymous variant)	SPTBN4-related disorder	GLikely benign
Select item 1013159	NM_020971.3(SPTBN4):c.312G>A (p.Gly104=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1264048	NM_020971.3(SPTBN4):c.322-211T>A	SPTBN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 730357	NM_020971.3(SPTBN4):c.348G>A (p.Arg116=)	SPTBN4	Single nucleotide variant (synonymous variant)	SPTBN4-related disorder +1 more	GBenign/Likely benign
Select item 3169596	NM_020971.3(SPTBN4):c.400C>T (p.Arg134Cys)	SPTBN4 (R134C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1709125	NM_020971.3(SPTBN4):c.455T>G (p.Leu152Arg)	SPTBN4 (L152R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GUncertain significance
Select item 2373378	NM_020971.3(SPTBN4):c.509A>G (p.Lys170Arg)	SPTBN4 (K170R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295707	NM_020971.3(SPTBN4):c.538C>T (p.Arg180Cys)	SPTBN4 (R180C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1236457	NM_020971.3(SPTBN4):c.588-87A>G	SPTBN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233050	NM_020971.3(SPTBN4):c.669-203C>T	SPTBN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2482579	NM_020971.3(SPTBN4):c.669G>C (p.Arg223Ser)	SPTBN4 (R223S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488921	NM_020971.3(SPTBN4):c.670C>G (p.Pro224Ala)	SPTBN4 (P224A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1694916	NM_020971.3(SPTBN4):c.679G>A (p.Val227Met)	SPTBN4 (V227M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2530904	NM_020971.3(SPTBN4):c.694C>A (p.Leu232Ile)	SPTBN4 (L232I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169620	NM_020971.3(SPTBN4):c.704C>T (p.Ser235Phe)	SPTBN4 (S235F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519702	NM_020971.3(SPTBN4):c.708T>A (p.Asn236Lys)	SPTBN4 (N236K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597733	NM_020971.3(SPTBN4):c.716A>G (p.Tyr239Cys)	SPTBN4 (Y239C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 987747	NM_020971.3(SPTBN4):c.737G>C (p.Arg246Pro)	SPTBN4 (R246P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GLikely pathogenic
Select item 1325614	NM_020971.3(SPTBN4):c.758G>C (p.Gly253Ala)	SPTBN4 (G253A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GUncertain significance
Select item 3047350	NM_020971.3(SPTBN4):c.766C>A (p.Arg256=)	SPTBN4	Single nucleotide variant (synonymous variant)	SPTBN4-related disorder	GLikely benign
Select item 252731	NM_020971.3(SPTBN4):c.767G>A (p.Arg256Gln)	SPTBN4 (R256Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1333116	NM_020971.3(SPTBN4):c.785-29_785-28del	SPTBN4	Deletion (intron variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GBenign
Select item 2649881	NM_020971.3(SPTBN4):c.816C>T (p.Ser272=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1810184	NM_020971.3(SPTBN4):c.886C>T (p.Arg296Cys)	SPTBN4 (R296C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3169628	NM_020971.3(SPTBN4):c.892G>A (p.Gly298Arg)	SPTBN4 (G298R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1281527	NM_020971.3(SPTBN4):c.912A>G (p.Val304=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2077813	NM_020971.3(SPTBN4):c.931A>T (p.Ile311Leu)	SPTBN4 (I311L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2649882	NM_020971.3(SPTBN4):c.934G>A (p.Glu312Lys)	SPTBN4 (E312K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3169629	NM_020971.3(SPTBN4):c.953C>T (p.Ala318Val)	SPTBN4 (A318V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053045	NM_020971.3(SPTBN4):c.1008A>G (p.Lys336=)	SPTBN4	Single nucleotide variant (synonymous variant)	SPTBN4-related disorder	GLikely benign
Select item 1258170	NM_020971.3(SPTBN4):c.1041A>G (p.Gln347=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2649883	NM_020971.3(SPTBN4):c.1056G>A (p.Thr352=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 987746	NM_020971.3(SPTBN4):c.1149dup (p.Asn384fs)	SPTBN4 (N384fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GPathogenic
Select item 2376252	NM_020971.3(SPTBN4):c.1154G>A (p.Arg385His)	SPTBN4 (R385H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407221	NM_020971.3(SPTBN4):c.1156C>T (p.Arg386Cys)	SPTBN4 (R386C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2220524	NM_020971.3(SPTBN4):c.1157G>A (p.Arg386His)	SPTBN4 (R386H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3026987	NM_020971.3(SPTBN4):c.1173G>C (p.Arg391=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 988586	NM_020971.3(SPTBN4):c.1249del (p.Leu417fs)	SPTBN4 (L417fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GPathogenic
Select item 3169583	NM_020971.3(SPTBN4):c.1266T>G (p.Ile422Met)	SPTBN4 (I422M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574826	NM_020971.3(SPTBN4):c.1267C>T (p.Arg423Trp)	SPTBN4 (R423W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2585634	NM_020971.3(SPTBN4):c.1286T>A (p.Leu429Gln)	SPTBN4 (L429Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GUncertain significance
Select item 2518847	NM_020971.3(SPTBN4):c.1304A>G (p.Asp435Gly)	SPTBN4 (D435G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1312529	NM_020971.3(SPTBN4):c.1349G>A (p.Arg450His)	SPTBN4 (R450H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3242563	NM_020971.3(SPTBN4):c.1360C>T (p.Gln454Ter)	SPTBN4 (Q454*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GPathogenic
Select item 1179621	NM_020971.3(SPTBN4):c.1362+108del	SPTBN4	Deletion (intron variant)	not provided	GBenign
Select item 3169584	NM_020971.3(SPTBN4):c.1385C>G (p.Pro462Arg)	SPTBN4 (P462R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1343917	NM_020971.3(SPTBN4):c.1387G>A (p.Ala463Thr)	SPTBN4 (A463T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1033561	NM_020971.3(SPTBN4):c.1423G>A (p.Glu475Lys)	SPTBN4 (E475K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2484699	NM_020971.3(SPTBN4):c.1433T>C (p.Ile478Thr)	SPTBN4 (I478T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2649884	NM_020971.3(SPTBN4):c.1434T>C (p.Ile478=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2349126	NM_020971.3(SPTBN4):c.1436C>T (p.Ala479Val)	SPTBN4 (A479V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169585	NM_020971.3(SPTBN4):c.1444G>A (p.Glu482Lys)	SPTBN4 (E482K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526502	NM_020971.3(SPTBN4):c.1466C>T (p.Ala489Val)	SPTBN4 (A489V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3239201	NM_020971.3(SPTBN4):c.1467G>A (p.Ala489=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3239036	NM_020971.3(SPTBN4):c.1491C>T (p.Ala497=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2236680	NM_020971.3(SPTBN4):c.1496G>A (p.Gly499Asp)	SPTBN4 (G499D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 559547	NM_020971.3(SPTBN4):c.1511G>A (p.Arg504Gln)	SPTBN4 (R504Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210013	NM_020971.3(SPTBN4):c.1514G>A (p.Arg505Gln)	SPTBN4 (R505Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055019	NM_020971.3(SPTBN4):c.1537G>A (p.Val513Ile)	SPTBN4 (V513I)	Single nucleotide variant (missense variant)	SPTBN4-related disorder	GLikely benign
Select item 2403413	NM_020971.3(SPTBN4):c.1558C>G (p.Leu520Val)	SPTBN4 (L520V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365653	NM_020971.3(SPTBN4):c.1570G>T (p.Val524Leu)	SPTBN4 (V524L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness +1 more	GUncertain significance
Select item 3169586	NM_020971.3(SPTBN4):c.1577C>G (p.Ala526Gly)	SPTBN4 (A526G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169587	NM_020971.3(SPTBN4):c.1582C>T (p.Arg528Trp)	SPTBN4 (R528W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 375254	NM_020971.3(SPTBN4):c.1597C>T (p.Gln533Ter)	SPTBN4 (Q533*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1247120	NM_020971.3(SPTBN4):c.1608C>T (p.Ala536=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3053676	NM_020971.3(SPTBN4):c.1665+6_1665+7dup	SPTBN4	Duplication (intron variant)	SPTBN4-related disorder	GLikely benign
Select item 3037324	NM_020971.3(SPTBN4):c.1665+7dup	SPTBN4	Duplication (intron variant)	SPTBN4-related disorder	GLikely benign
Select item 769455	NM_020971.3(SPTBN4):c.1665+6G>T	SPTBN4	Single nucleotide variant (intron variant)	SPTBN4-related disorder +1 more	GBenign
Select item 2649885	NM_020971.3(SPTBN4):c.1665+8C>T	SPTBN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277390	NM_020971.3(SPTBN4):c.1665+8del	SPTBN4	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 768991	NM_020971.3(SPTBN4):c.1665+8C>G	SPTBN4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3045569	NM_020971.3(SPTBN4):c.1665+9G>T	SPTBN4	Single nucleotide variant (intron variant)	SPTBN4-related disorder	GLikely benign
Select item 3046969	NM_020971.3(SPTBN4):c.1665+10G>C	SPTBN4	Single nucleotide variant (intron variant)	SPTBN4-related disorder	GLikely benign
Select item 1282769	NM_020971.3(SPTBN4):c.1666-46C>T	SPTBN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3035387	NM_020971.3(SPTBN4):c.1666-8G>A	SPTBN4	Single nucleotide variant (intron variant)	SPTBN4-related disorder	GLikely benign
Select item 3169588	NM_020971.3(SPTBN4):c.1681C>T (p.Arg561Trp)	SPTBN4 (R561W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281161	NM_020971.3(SPTBN4):c.1682G>A (p.Arg561Gln)	SPTBN4 (R561Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2649886	NM_020971.3(SPTBN4):c.1701G>A (p.Leu567=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1333117	NM_020971.3(SPTBN4):c.1713C>T (p.Asp571=)	SPTBN4	Single nucleotide variant (synonymous variant)	SPTBN4-related disorder +1 more	GBenign

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