Related gene-specific medical variations for Gene (Select 55697) - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3188112	NM_018052.5(VAC14):c.1355C>T (p.Ser452Leu)	VAC14, VAC14-AS1 (S218L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2981989	NM_018052.5(VAC14):c.1300C>A (p.Arg434=)	VAC14, VAC14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977637	NM_018052.5(VAC14):c.1115G>A (p.Cys372Tyr)	VAC14-AS1, VAC14 (C372Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2955421	NM_018052.5(VAC14):c.1371+18C>A	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2889044	NM_018052.5(VAC14):c.1097-4C>A	VAC14, VAC14-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2810791	NM_018052.5(VAC14):c.1161-5C>A	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797135	NM_018052.5(VAC14):c.1161-14G>C	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2710176	NM_018052.5(VAC14):c.1306-14T>G	VAC14-AS1, VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2438507	NM_018052.5(VAC14):c.1063G>A (p.Asp355Asn)	VAC14 (D121N +1 more)	Single nucleotide variant (missense variant)	Striatonigral degeneration, childhood-onset	GUncertain significance
Select item 2438506	NM_018052.5(VAC14):c.1339C>G (p.Leu447Val)	VAC14, VAC14-AS1 (L213V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2420949	NM_018052.5(VAC14):c.1346A>T (p.Gln449Leu)	VAC14-AS1, VAC14 (Q215L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414690	NM_018052.5(VAC14):c.1144G>C (p.Val382Leu)	VAC14, VAC14-AS1 (V148L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2190296	NM_018052.5(VAC14):c.1356G>A (p.Ser452=)	VAC14, VAC14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181544	NM_018052.5(VAC14):c.1135G>A (p.Gly379Ser)	VAC14, VAC14-AS1 (G379S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2167249	NM_018052.5(VAC14):c.1201G>A (p.Val401Met)	VAC14, VAC14-AS1 (V401M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2148871	NM_018052.5(VAC14):c.1313G>A (p.Arg438Gln)	VAC14, VAC14-AS1 (R204Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2129504	NM_018052.5(VAC14):c.1306-7_1306-6delinsTT	VAC14, VAC14-AS1	Indel (intron variant)	not provided	GUncertain significance
Select item 2119459	NM_018052.5(VAC14):c.1305+15C>T	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2118350	NM_018052.5(VAC14):c.1298C>G (p.Pro433Arg)	VAC14, VAC14-AS1 (P433R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112916	NM_018052.5(VAC14):c.1208T>C (p.Val403Ala)	VAC14, VAC14-AS1 (V403A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104219	NM_018052.5(VAC14):c.1320G>T (p.Thr440=)	VAC14, VAC14-AS1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2096548	NM_018052.5(VAC14):c.1305+16C>T	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2094616	NM_018052.5(VAC14):c.1218C>G (p.Cys406Trp)	VAC14, VAC14-AS1 (C172W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2040416	NM_018052.5(VAC14):c.1161-6_1161-3del	VAC14, VAC14-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1952268	NM_018052.5(VAC14):c.1188C>A (p.His396Gln)	VAC14, VAC14-AS1 (H396Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934411	NM_018052.5(VAC14):c.1161-22TCCC[3]	VAC14, VAC14-AS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1930304	NM_018052.5(VAC14):c.1106A>T (p.Asp369Val)	VAC14, VAC14-AS1 (D369V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1925244	NM_018052.5(VAC14):c.1200C>T (p.Ile400=)	VAC14, VAC14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1917997	NM_018052.5(VAC14):c.1365G>A (p.Ser455=)	VAC14, VAC14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914825	NM_018052.5(VAC14):c.1161-15C>T	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1914057	NM_018052.5(VAC14):c.1161-15C>G	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1905234	NM_018052.5(VAC14):c.1097-18T>G	VAC14, VAC14-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1900654	NM_018052.5(VAC14):c.1371+14G>A	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674048	NM_018052.5(VAC14):c.1371+12A>T	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663962	NM_018052.5(VAC14):c.1305+13C>G	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1650857	NM_018052.5(VAC14):c.1275C>T (p.Leu425=)	VAC14, VAC14-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1640021	NM_018052.5(VAC14):c.1371+13C>T	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1614075	NM_018052.5(VAC14):c.1194C>T (p.Asp398=)	VAC14, VAC14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1568937	NM_018052.5(VAC14):c.1224C>T (p.Leu408=)	VAC14, VAC14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1525370	NM_018052.5(VAC14):c.1308G>A (p.Met436Ile)	VAC14, VAC14-AS1 (M202I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1495997	NM_018052.5(VAC14):c.1312C>T (p.Arg438Trp)	VAC14, VAC14-AS1 (R204W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1420777	NM_018052.5(VAC14):c.1261G>T (p.Val421Phe)	VAC14, VAC14-AS1 (V187F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1398913	NM_018052.5(VAC14):c.1324A>G (p.Ser442Gly)	VAC14, VAC14-AS1 (S442G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1382111	NM_018052.5(VAC14):c.1142G>A (p.Ser381Asn)	VAC14, VAC14-AS1 (S147N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1379968	NM_018052.5(VAC14):c.1300C>T (p.Arg434Trp)	VAC14, VAC14-AS1 (R200W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1282718	NM_018052.5(VAC14):c.1371+27A>T	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269382	NM_018052.5(VAC14):c.1306-7C>T	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1224980	NM_018052.5(VAC14):c.1161-30C>T	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183222	NM_018052.5(VAC14):c.1306-27G>A	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1027664	NM_018052.5(VAC14):c.2033C>A (p.Thr678Lys)	VAC14 (T444K +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration	GUncertain significance
Select item 808071	NM_018052.5(VAC14):c.1357G>T (p.Asp453Tyr)	VAC14, VAC14-AS1 (D219Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 798602	NM_018052.5(VAC14):c.1097-9C>T	VAC14-AS1, VAC14	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 784658	NM_018052.5(VAC14):c.1320G>A (p.Thr440=)	VAC14, VAC14-AS1	Single nucleotide variant (synonymous variant)	VAC14-related disorder +1 more	GBenign
Select item 758145	NM_018052.5(VAC14):c.1320G>C (p.Thr440=)	VAC14, VAC14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 253140	NM_018052.5(VAC14):c.1271G>T (p.Trp424Leu)	VAC14, VAC14-AS1 (W424L +1 more)	Single nucleotide variant (missense variant)	Striatonigral degeneration, childhood-onset	GPathogenic

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Links from Gene

Items: 55