Related gene-specific medical variations for Gene (Select 6843) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 106

<< First< Prev

Page of 2

	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 3256752	NM_014231.5(VAMP1):c.341-24G>A	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 25, presynaptic	GLikely pathogenic
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 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)	VAMP1, TAPBPL (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 (3 prime UTR 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 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 2504968	NM_014231.5(VAMP1):c.232_233del (p.Gln78fs)	TAPBPL, VAMP1 (Q78fs)	Microsatellite (frameshift variant +1 more)	not provided	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)	not provided +1 more	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)	TAPBPL, VAMP1 (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 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 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 (3 prime UTR variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1576293	NM_014231.5(VAMP1):c.130-15C>G	TAPBPL, VAMP1	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 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 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 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
Select item 1368203	NM_014231.5(VAMP1):c.130-6C>G	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	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 1314733	NM_014231.5(VAMP1):c.26C>G (p.Ala9Gly)	TAPBPL, VAMP1 (A9G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1293705	NM_014231.5(VAMP1):c.129+90_129+92del	TAPBPL, VAMP1	Deletion (intron variant)	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 1280091	NM_014231.5(VAMP1):c.130-25T>A	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	not provided +2 more	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 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 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 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 1253157	NM_014231.5(VAMP1):c.*1445A>G	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1234868	NM_014231.5(VAMP1):c.*1588T>C	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 25, presynaptic +2 more	GBenign
Select item 1234310	NM_014231.5(VAMP1):c.-115A>G	TAPBPL, VAMP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1234202	NM_014231.5(VAMP1):c.289-194C>A	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224901	NM_014231.5(VAMP1):c.2+131T>C	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1007467	NM_014231.5(VAMP1):c.34A>T (p.Thr12Ser)	VAMP1, TAPBPL (T12S)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 995356	NM_014231.5(VAMP1):c.252C>A (p.Ala84=)	TAPBPL, VAMP1	Single nucleotide variant (synonymous variant +1 more)	Myasthenic syndrome, congenital, 25, presynaptic +4 more	GBenign
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 849848	NM_014231.5(VAMP1):c.325G>A (p.Val109Met)	VAMP1, TAPBPL (V109M)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
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 698325	NM_014231.5(VAMP1):c.3-6C>T	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 25, presynaptic +1 more	GConflicting classifications of pathogenicity
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 619005	NM_014231.5(VAMP1):c.128_129del (p.Glu43fs)	TAPBPL, VAMP1 (E43fs)	Deletion (frameshift variant)	Myasthenic syndrome, congenital, 25, presynaptic	GPathogenic
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 619002	NM_014231.5(VAMP1):c.51_64del (p.Gly18fs)	TAPBPL, VAMP1 (G18fs)	Deletion (frameshift variant)	Myasthenic syndrome, congenital, 25, presynaptic	GPathogenic
Select item 619001	NM_014231.5(VAMP1):c.340del (p.Ile114fs)	TAPBPL, VAMP1 (R114fs +2 more)	Deletion (frameshift variant +1 more)	Spastic ataxia 1 +4 more	GPathogenic/Likely pathogenic
Select item 586926	NM_014231.5(VAMP1):c.299T>C (p.Met100Thr)	TAPBPL, VAMP1 (M100T)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +1 more	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 528039	NC_000012.12:g.(?_6462812)_(6470551_?)del	LOC130007245, TAPBPL +1 more	Deletion	Spastic paraplegia	GPathogenic

<< First< Prev

Page of 2