ClinVar for Gene (Select 55080) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3331831	NM_014231.5(VAMP1):c.145C>T (p.Arg49Cys)	TAPBPL, VAMP1 (R49C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3244331	NC_000012.11:g.(?_6438478)_(6950528_?)dup	ACRBP, CD27 +23 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 3188118	NM_014231.5(VAMP1):c.263G>A (p.Arg88Lys)	TAPBPL, VAMP1 (R88K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3173822	NM_018009.5(TAPBPL):c.79G>A (p.Glu27Lys)	TAPBPL (E27K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3173821	NM_018009.5(TAPBPL):c.557G>A (p.Arg186Gln)	TAPBPL (R186Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3173820	NM_018009.5(TAPBPL):c.322G>A (p.Glu108Lys)	TAPBPL (E108K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3017998	NM_014231.5(VAMP1):c.16C>G (p.Gln6Glu)	TAPBPL, VAMP1 (Q6E)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2995851	NM_014231.5(VAMP1):c.289-6C>T	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2970322	NM_014231.5(VAMP1):c.71C>A (p.Pro24His)	TAPBPL, VAMP1 (P24H)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2915160	NM_014231.5(VAMP1):c.3-12G>A	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2912984	NM_014231.5(VAMP1):c.146G>A (p.Arg49His)	TAPBPL, VAMP1 (R49H)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2900720	NM_014231.5(VAMP1):c.289-16G>A	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2892082	NM_014231.5(VAMP1):c.159C>G (p.Asp53Glu)	TAPBPL, VAMP1 (D53E)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2801650	NM_014231.5(VAMP1):c.2+19G>C	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2797098	NM_014231.5(VAMP1):c.3-9T>C	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2746938	NM_014231.5(VAMP1):c.291G>C (p.Met97Ile)	TAPBPL, VAMP1 (M97I)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2734210	NM_014231.5(VAMP1):c.341-10C>T	TAPBPL, VAMP1	Single nucleotide variant (intron variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2727042	NM_014231.5(VAMP1):c.17A>C (p.Gln6Pro)	TAPBPL, VAMP1 (Q6P)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2726180	NM_014231.5(VAMP1):c.3-14_3-13del	TAPBPL, VAMP1	Deletion (intron variant)	Spastic paraplegia	GLikely benign
Select item 2724361	NM_014231.5(VAMP1):c.324C>T (p.Ile108=)	TAPBPL, VAMP1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2684103	NM_014231.5(VAMP1):c.338T>G (p.Val113Gly)	TAPBPL, VAMP1 (V113G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2633893	NM_014231.5(VAMP1):c.230C>T (p.Ser77Leu)	TAPBPL, VAMP1 (S77L)	Single nucleotide variant (missense variant +1 more)	VAMP1-related disorder	GUncertain significance
Select item 2579154	NM_014231.5(VAMP1):c.341-2A>G	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +2 more)	Spastic paraplegia +1 more	GUncertain significance
Select item 2575084	NM_014231.5(VAMP1):c.152dup (p.Asn51fs)	TAPBPL, VAMP1 (N51fs)	Duplication (frameshift variant +1 more)	Spastic ataxia 1	GLikely pathogenic
Select item 2560975	NM_018009.5(TAPBPL):c.683G>A (p.Arg228Gln)	TAPBPL (R98Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559122	NM_018009.5(TAPBPL):c.941C>T (p.Ala314Val)	TAPBPL (A184V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554272	NM_018009.5(TAPBPL):c.284T>C (p.Phe95Ser)	TAPBPL (F95S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2547076	NM_018009.5(TAPBPL):c.494C>T (p.Thr165Ile)	TAPBPL (T165I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530147	NM_018009.5(TAPBPL):c.376C>T (p.Arg126Cys)	TAPBPL (R126C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2509747	NM_018009.5(TAPBPL):c.749G>A (p.Arg250Gln)	TAPBPL (R120Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2504968	NM_014231.5(VAMP1):c.232_233del (p.Gln78fs)	TAPBPL, VAMP1 (Q78fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	ACSM4, A2ML1 +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2419667	NM_014231.5(VAMP1):c.55G>C (p.Gly19Arg)	TAPBPL, VAMP1 (G19R)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2416431	NM_014231.5(VAMP1):c.203G>A (p.Arg68Gln)	TAPBPL, VAMP1 (R68Q)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +1 more	GUncertain significance
Select item 2393666	NM_018009.5(TAPBPL):c.282C>G (p.Ile94Met)	TAPBPL (I94M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2316259	NM_018009.5(TAPBPL):c.632A>T (p.Asp211Val)	TAPBPL (D211V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267616	NM_018009.5(TAPBPL):c.1196T>C (p.Val399Ala)	TAPBPL (V269A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256089	NM_018009.5(TAPBPL):c.649G>A (p.Ala217Thr)	TAPBPL (A217T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250485	NM_018009.5(TAPBPL):c.1343G>A (p.Cys448Tyr)	TAPBPL (C318Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248327	NM_018009.5(TAPBPL):c.65A>G (p.Lys22Arg)	TAPBPL (K22R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2236346	NM_018009.5(TAPBPL):c.562G>A (p.Ala188Thr)	TAPBPL (A188T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226129	NM_018009.5(TAPBPL):c.1385C>T (p.Ala462Val)	TAPBPL (A332V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218730	NM_018009.5(TAPBPL):c.1210C>T (p.Arg404Trp)	TAPBPL (R274W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217515	NM_018009.5(TAPBPL):c.748C>T (p.Arg250Trp)	TAPBPL (R250W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2166606	NM_014231.5(VAMP1):c.288+12T>G	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2157502	NM_014231.5(VAMP1):c.129+19C>T	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2142476	NM_014231.5(VAMP1):c.105G>A (p.Gln35=)	TAPBPL, VAMP1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2139988	NM_014231.5(VAMP1):c.195G>A (p.Leu65=)	TAPBPL, VAMP1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2133167	NM_014231.5(VAMP1):c.289-20T>G	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2057142	NM_014231.5(VAMP1):c.340+12T>G	TAPBPL, VAMP1	Single nucleotide variant (stop lost +1 more)	Spastic paraplegia	GLikely benign
Select item 2057138	NM_014231.5(VAMP1):c.351T>C (p.Phe117=)	TAPBPL, VAMP1	Single nucleotide variant (synonymous variant +2 more)	Spastic paraplegia	GLikely benign
Select item 2054008	NM_014231.5(VAMP1):c.340+20C>T	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2053623	NM_014231.5(VAMP1):c.338dup (p.Ile114fs)	TAPBPL, VAMP1 (R114fs +2 more)	Duplication (frameshift variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2051611	NM_014231.5(VAMP1):c.20C>T (p.Pro7Leu)	TAPBPL, VAMP1 (P7L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2037751	NM_014231.5(VAMP1):c.3-19T>C	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2031551	NM_014231.5(VAMP1):c.341-18C>A	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2022791	NM_014231.5(VAMP1):c.129G>C (p.Glu43Asp)	TAPBPL, VAMP1 (E43D)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1984925	NM_014231.5(VAMP1):c.311T>C (p.Ile104Thr)	TAPBPL, VAMP1 (I104T)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1940334	NM_014231.5(VAMP1):c.346T>C (p.Phe116Leu)	VAMP1, TAPBPL (F116L)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia	GUncertain significance
Select item 1926344	NM_014231.5(VAMP1):c.336T>C (p.Ile112=)	TAPBPL, VAMP1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1806955	NM_014231.5(VAMP1):c.340+2T>A	TAPBPL, VAMP1 (S114R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 1806954	NM_014231.5(VAMP1):c.2+10C>T	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1806953	NM_014231.5(VAMP1):c.172A>G (p.Arg58Gly)	TAPBPL, VAMP1 (R58G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1806952	NM_014231.5(VAMP1):c.66del (p.Gly23fs)	TAPBPL, VAMP1 (G23fs)	Deletion (frameshift variant)	Spastic paraplegia +1 more	GPathogenic
Select item 1669030	NM_014231.5(VAMP1):c.340+16G>A	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1642179	NM_014231.5(VAMP1):c.2+15G>A	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1621479	NM_014231.5(VAMP1):c.341-19T>G	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1615609	NM_014231.5(VAMP1):c.2+12C>T	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1611572	NM_014231.5(VAMP1):c.258A>G (p.Leu86=)	TAPBPL, VAMP1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1603063	NM_014231.5(VAMP1):c.111C>T (p.Thr37=)	TAPBPL, VAMP1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1600510	NM_014231.5(VAMP1):c.289-13C>T	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GBenign
Select item 1599902	NM_014231.5(VAMP1):c.288+15C>T	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GBenign
Select item 1596599	NM_014231.5(VAMP1):c.2+17G>A	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1594506	NM_014231.5(VAMP1):c.186G>A (p.Leu62=)	TAPBPL, VAMP1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1591492	NM_014231.5(VAMP1):c.341-18_341-16del	TAPBPL, VAMP1	Deletion (3 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1585886	NM_014231.5(VAMP1):c.340+10G>A	TAPBPL, VAMP1 (R117H)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1585366	NM_014231.5(VAMP1):c.341-21_341-19delinsAAA	TAPBPL, VAMP1	Indel (intron variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1576293	NM_014231.5(VAMP1):c.130-15C>G	VAMP1, TAPBPL	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1568429	NM_014231.5(VAMP1):c.288+16C>T	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1547926	NM_014231.5(VAMP1):c.222A>G (p.Ala74=)	TAPBPL, VAMP1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1537637	NM_014231.5(VAMP1):c.2+8G>A	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1527682	GRCh37/hg19 12p13.31(chr12:6530146-7376398)	ACRBP, ATN1 +40 more	Copy number gain	not specified	GUncertain significance
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1490473	NM_014231.5(VAMP1):c.340+9C>T	TAPBPL, VAMP1 (R117C)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1481772	NM_014231.5(VAMP1):c.74C>T (p.Pro25Leu)	TAPBPL, VAMP1 (P25L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1473612	NC_000012.11:g.(?_6438478)_(8756953_?)dup	USP5, VAMP1 +64 more	Duplication	not provided	GUncertain significance
Select item 1459811	NM_014231.5(VAMP1):c.97C>T (p.Arg33Ter)	TAPBPL, VAMP1 (R33*)	Single nucleotide variant (nonsense)	Spastic paraplegia	GPathogenic
Select item 1459195	NM_014231.5(VAMP1):c.59del (p.Gly20fs)	TAPBPL, VAMP1 (G20fs)	Deletion (frameshift variant)	Spastic paraplegia	GPathogenic
Select item 1440899	NM_014231.5(VAMP1):c.353C>T (p.Thr118Ile)	TAPBPL, VAMP1 (T118I)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia	GUncertain significance
Select item 1436836	NM_014231.5(VAMP1):c.58G>A (p.Gly20Ser)	TAPBPL, VAMP1 (G20S)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1416465	NM_014231.5(VAMP1):c.2+3G>A	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 1409561	NC_000012.11:g.(?_6438478)_(8248686_?)dup	SLC2A3, TPI1 +57 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 1396505	NM_014231.5(VAMP1):c.98G>A (p.Arg33Gln)	TAPBPL, VAMP1 (R33Q)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1392306	NM_014231.5(VAMP1):c.19C>T (p.Pro7Ser)	TAPBPL, VAMP1 (P7S)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance

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