VAMP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	A2ML1, A2ML1-AS1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC130007649, LOC130007650 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	LOC124625919, LOC124625920 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	A2M, A2M-AS1 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC130007425, LOC130007426 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	WBP11, WNK1 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	PRB2, PRB3 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007339, LOC130007340 +698 more	Copy number gain	See cases	GPathogenic
Select item 528039	NC_000012.12:g.(?_6462812)_(6470551_?)del	LOC130007245, TAPBPL +1 more	Deletion	Spastic paraplegia	GPathogenic
Select item 448851	NM_014231.5(VAMP1):c.*1630C>T	TAPBPL, VAMP1 (R115W)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign/Likely benign
Select item 1234868	NM_014231.5(VAMP1):c.*1588T>C	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic ataxia 1 +2 more	GBenign
Select item 1253157	NM_014231.5(VAMP1):c.*1445A>G	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
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 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 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 1361857	NM_014231.5(VAMP1):c.341T>C (p.Ile114Thr)	TAPBPL, VAMP1 (I114T)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia	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 2734210	NM_014231.5(VAMP1):c.341-10C>T	TAPBPL, VAMP1	Single nucleotide variant (intron 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 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 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 1585366	NM_014231.5(VAMP1):c.341-21_341-19delinsAAA	TAPBPL, VAMP1	Indel (intron variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1295842	NM_014231.5(VAMP1):c.341-64A>G	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1282347	NM_014231.5(VAMP1):c.341-65C>T	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1258404	NM_014231.5(VAMP1):c.341-97G>A	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1253373	NM_014231.5(VAMP1):c.340+200C>A	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1267527	NM_014231.5(VAMP1):c.340+146G>A	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
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 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 2057142	NM_014231.5(VAMP1):c.340+12T>G	TAPBPL, VAMP1	Single nucleotide variant (stop lost +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 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 1806955	NM_014231.5(VAMP1):c.340+2T>A	TAPBPL, VAMP1 (S114R)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +1 more	GPathogenic
Select item 240888	NM_014231.5(VAMP1):c.340+2T>G	TAPBPL, VAMP1 (S114R)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +1 more	GPathogenic
Select item 619001	NM_014231.5(VAMP1):c.340del (p.Ile114fs)	TAPBPL, VAMP1 (R114fs +2 more)	Deletion (frameshift variant +1 more)	Spastic paraplegia +3 more	GPathogenic/Likely pathogenic
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 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 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 448850	NM_014231.5(VAMP1):c.335T>C (p.Ile112Thr)	VAMP1, TAPBPL (I112T)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +1 more	GUncertain significance
Select item 849848	NM_014231.5(VAMP1):c.325G>A (p.Val109Met)	TAPBPL, VAMP1 (V109M)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
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 1256198	NM_014231.5(VAMP1):c.315T>A (p.Cys105Ter)	TAPBPL, VAMP1 (C105*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 936700	NM_014231.5(VAMP1):c.307G>A (p.Ala103Thr)	TAPBPL, VAMP1 (A103T)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 586926	NM_014231.5(VAMP1):c.299T>C (p.Met100Thr)	TAPBPL, VAMP1 (M100T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 2995851	NM_014231.5(VAMP1):c.289-6C>T	TAPBPL, VAMP1	Single nucleotide variant (intron 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 2900720	NM_014231.5(VAMP1):c.289-16G>A	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	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 1234202	NM_014231.5(VAMP1):c.289-194C>A	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1568429	NM_014231.5(VAMP1):c.288+16C>T	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1599902	NM_014231.5(VAMP1):c.288+15C>T	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GBenign
Select item 2166606	NM_014231.5(VAMP1):c.288+12T>G	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 995356	NM_014231.5(VAMP1):c.252C>A (p.Ala84=)	TAPBPL, VAMP1	Single nucleotide variant (synonymous variant +1 more)	Spastic ataxia 1 +4 more	GBenign
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 2633893	NM_014231.5(VAMP1):c.230C>T (p.Ser77Leu)	TAPBPL, VAMP1 (S77L)	Single nucleotide variant (missense variant +1 more)	VAMP1-related condition	GUncertain significance
Select item 493108	NM_014231.5(VAMP1):c.230C>A (p.Ser77Ter)	TAPBPL, VAMP1 (S77*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
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 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 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 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 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 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 2575084	NM_014231.5(VAMP1):c.152dup (p.Asn51fs)	TAPBPL, VAMP1 (N51fs)	Duplication (frameshift variant +1 more)	Spastic ataxia 1	GLikely pathogenic
Select item 763491	NM_014231.5(VAMP1):c.150G>C (p.Val50=)	TAPBPL, VAMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	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 549692	NM_014231.5(VAMP1):c.146G>C (p.Arg49Pro)	VAMP1, TAPBPL (R49P)	Single nucleotide variant (missense variant +1 more)	Myasthenic syndrome, congenital, 25, presynaptic +1 more	GPathogenic
Select item 1368203	NM_014231.5(VAMP1):c.130-6C>G	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 1576293	NM_014231.5(VAMP1):c.130-15C>G	VAMP1, TAPBPL	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1280091	NM_014231.5(VAMP1):c.130-25T>A	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic ataxia 1 +2 more	GBenign
Select item 1293705	NM_014231.5(VAMP1):c.129+90_129+92del	TAPBPL, VAMP1	Deletion (intron variant)	not provided	GBenign
Select item 2157502	NM_014231.5(VAMP1):c.129+19C>T	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 619004	NM_014231.5(VAMP1):c.129+1G>A	TAPBPL, VAMP1	Single nucleotide variant (splice donor variant)	Myasthenic syndrome, congenital, 25, presynaptic	GPathogenic
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 619005	NM_014231.5(VAMP1):c.128_129del (p.Glu43fs)	TAPBPL, VAMP1 (E43fs)	Deletion (frameshift variant)	Myasthenic syndrome, congenital, 25, presynaptic	GPathogenic
Select item 451278	NM_014231.5(VAMP1):c.122T>A (p.Val41Glu)	TAPBPL, VAMP1 (V41E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 696949	NM_014231.5(VAMP1):c.114G>A (p.Gln38=)	TAPBPL, VAMP1	Single nucleotide variant (synonymous variant)	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 2142476	NM_014231.5(VAMP1):c.105G>A (p.Gln35=)	TAPBPL, VAMP1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
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 1459811	NM_014231.5(VAMP1):c.97C>T (p.Arg33Ter)	TAPBPL, VAMP1 (R33*)	Single nucleotide variant (nonsense)	Spastic paraplegia	GPathogenic
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 2970322	NM_014231.5(VAMP1):c.71C>A (p.Pro24His)	TAPBPL, VAMP1 (P24H)	Single nucleotide variant (missense variant)	Spastic paraplegia	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 284396	NM_014231.5(VAMP1):c.65del (p.Pro22fs)	TAPBPL, VAMP1 (P22fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 619002	NM_014231.5(VAMP1):c.51_64del (p.Gly18fs)	TAPBPL, VAMP1 (G18fs)	Deletion (frameshift variant)	Myasthenic syndrome, congenital, 25, presynaptic	GPathogenic
Select item 1459195	NM_014231.5(VAMP1):c.59del (p.Gly20fs)	TAPBPL, VAMP1 (G20fs)	Deletion (frameshift variant)	Spastic paraplegia	GPathogenic
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 2419667	NM_014231.5(VAMP1):c.55G>C (p.Gly19Arg)	TAPBPL, VAMP1 (G19R)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1007467	NM_014231.5(VAMP1):c.34A>T (p.Thr12Ser)	TAPBPL, VAMP1 (T12S)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1314733	NM_014231.5(VAMP1):c.26C>G (p.Ala9Gly)	TAPBPL, VAMP1 (A9G)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	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 1392306	NM_014231.5(VAMP1):c.19C>T (p.Pro7Ser)	TAPBPL, VAMP1 (P7S)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2727042	NM_014231.5(VAMP1):c.17A>C (p.Gln6Pro)	TAPBPL, VAMP1 (Q6P)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance

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