VAMP2[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 more	Copy number gain	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	LOC126862500, LOC126862501 +461 more	Copy number gain	See cases	GPathogenic
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 649065	NC_000017.11:g.(?_7669599)_(8382320_?)del	ALOX12B, ALOX15B +141 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 463365	NC_000017.11:g.(?_7669603)_(8382316_?)del	LOC112533665, LOC116276454 +141 more	Deletion	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 152524	GRCh38/hg38 17p13.1(chr17:7967712-8490279)x3	LOC130060203, LOC130060204 +110 more	Copy number gain	See cases	GUncertain significance
Select item 929464	NM_014232.3(VAMP2):c.337_341del (p.Tyr113fs)	VAMP2 (Y113fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1321621	NM_014232.3(VAMP2):c.334+12G>C	VAMP2	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements +1 more	GBenign
Select item 2672687	NM_014232.3(VAMP2):c.328A>C (p.Ile110Leu)	VAMP2 (I110L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026123	NM_014232.3(VAMP2):c.309C>T (p.Cys103=)	VAMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647450	NM_014232.3(VAMP2):c.294C>T (p.Ile98=)	VAMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2582025	NM_014232.3(VAMP2):c.256C>T (p.Arg86Cys)	VAMP2 (R86C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 810676	NM_014232.3(VAMP2):c.233A>C (p.Glu78Ala)	VAMP2 (E78A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements	GPathogenic
Select item 810677	NM_014232.3(VAMP2):c.230T>C (p.Phe77Ser)	VAMP2 (F77S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements	GPathogenic
Select item 3068556	NM_014232.3(VAMP2):c.226C>T (p.Gln76Ter)	VAMP2 (Q76* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements	GLikely pathogenic
Select item 810675	NM_014232.3(VAMP2):c.223T>C (p.Ser75Pro)	VAMP2 (S75P +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements	GPathogenic
Select item 985205	NM_014232.3(VAMP2):c.221C>T (p.Ala74Val)	VAMP2 (A74V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 929461	NM_014232.3(VAMP2):c.217G>T (p.Gly73Trp)	VAMP2 (G73W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2647451	NM_014232.3(VAMP2):c.200C>T (p.Ala67Val)	VAMP2 (A67V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499259	NM_014232.3(VAMP2):c.197G>A (p.Arg66His)	VAMP2 (R66H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3040494	NM_014232.3(VAMP2):c.183G>A (p.Ser61=)	VAMP2	Single nucleotide variant (synonymous variant)	VAMP2-related condition	GLikely benign
Select item 929463	NM_014232.3(VAMP2):c.167G>T (p.Arg56Leu)	VAMP2 (R56L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 929460	NM_014232.3(VAMP2):c.166C>T (p.Arg56Ter)	VAMP2 (R56* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3052949	NM_014232.3(VAMP2):c.147C>T (p.Asn49=)	VAMP2	Single nucleotide variant (synonymous variant)	VAMP2-related condition	GLikely benign
Select item 810679	NM_014232.3(VAMP2):c.132CAT[1] (p.Ile45del)	VAMP2 (I47del +1 more)	Microsatellite (inframe_deletion)	Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements	GPathogenic
Select item 666257	NM_014232.3(VAMP2):c.128_130del	VAMP2	Microsatellite (splice acceptor variant)	Severe neurodevelopmental delay	GPathogenic
Select item 1433504	NM_014232.3(VAMP2):c.124-1G>C	VAMP2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2229982	NM_014232.3(VAMP2):c.124-3C>T	VAMP2	Single nucleotide variant (intron variant)	VAMP2-related condition +1 more	GLikely benign
Select item 3030387	NM_014232.3(VAMP2):c.65C>T (p.Pro22Leu)	LOC130060218, VAMP2 (P22L +1 more)	Single nucleotide variant (missense variant)	VAMP2-related condition	GUncertain significance
Select item 1701888	NM_014232.3(VAMP2):c.60del (p.Ala21fs)	LOC130060218, VAMP2 (A21fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder	GUncertain significance
Select item 1310702	NM_014232.3(VAMP2):c.38C>T (p.Pro13Leu)	LOC130060218, VAMP2 (P13L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2336398	NM_014232.3(VAMP2):c.37C>T (p.Pro13Ser)	LOC130060218, VAMP2 (P13S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2438508	NM_014232.3(VAMP2):c.13G>A (p.Ala5Thr)	LOC130060218, VAMP2 (A5T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements	GUncertain significance
Select item 2624383	NM_014232.3(VAMP2):c.8C>T (p.Ala3Val)	LOC130060218, VAMP2 (A3V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 929462	NM_014232.3(VAMP2):c.1A>G (p.Met1Val)	VAMP2 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2671586	Single allele	TMEM88, TRG-GCC2-6 +31 more	Duplication	not provided	GUncertain significance
Select item 2423280	NC_000017.10:g.(?_7571752)_(8285628_?)del	ALOX12B, ALOX15B +33 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2423278	NC_000017.10:g.(?_7120455)_(8151423_?)del	ALOX15B, ACADVL +66 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2422139	NC_000017.10:g.(?_7123304)_(8193254_?)del	NEURL4, NLGN2 +69 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1809151	GRCh37/hg19 17p13.1(chr17:7381537-8068400)x3	ALOX12B, ALOX15B +37 more	Copy number gain	not provided	GUncertain significance
Select item 1526569	GRCh37/hg19 17p13.1(chr17:7929776-9995862)	ALOX12B, ALOX15B +36 more	Copy number gain	not specified	GUncertain significance
Select item 1526568	GRCh37/hg19 17p13.1(chr17:7593552-8225803)	ALOX12B, ALOX15B +29 more	Copy number gain	not specified	GUncertain significance
Select item 1526567	GRCh37/hg19 17p13.1(chr17:7241916-8692213)	ACAP1, ALOX12B +65 more	Copy number loss	not specified	GPathogenic
Select item 1526566	GRCh37/hg19 17p13.1(chr17:7020054-8086290)	ACADVL, ACAP1 +64 more	Copy number loss	not specified	GPathogenic
Select item 1376044	NC_000017.10:g.(?_7571752)_(8135555_?)del	TMEM88, TP53 +26 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 831200	NC_000017.10:g.(?_6589506)_(8151374_?)dup	KCNAB3, KCTD11 +81 more	Duplication	Dyskeratosis congenita +1 more	GUncertain significance
Select item 815902	GRCh37/hg19 17p13.1(chr17:7937691-8247776)x3	BORCS6, AURKB +18 more	Copy number gain	not provided	GUncertain significance
Select item 687831	GRCh37/hg19 17p13.1(chr17:7676383-8350870)x3	ALOX12B, ALOX15B +32 more	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 523158	GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1	ACADVL, ACAP1 +75 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 442648	GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3	ALOX12B, ALOX15B +61 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 221530	GRCh37/hg19 17p13.1(chr17:8020196-8157327)x3	ALOXE3, AURKB +12 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221394	GRCh37/hg19 17p13.1(chr17:8017865-8135384)x3	ALOXE3, AURKB +11 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 59