Related gene-specific medical variations for Gene (Select 55275) - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3189018	NM_001128159.3(VPS53):c.1130C>A (p.Ser377Tyr)	LOC126862457, VPS53 (S348Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3008764	NM_001128159.3(VPS53):c.1137C>A (p.Pro379=)	LOC126862457, VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008730	NM_001128159.3(VPS53):c.1557-9T>C	LOC126862456, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000877	NM_001128159.3(VPS53):c.1218+10G>A	LOC126862457, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992520	NM_001128159.3(VPS53):c.1218+16G>T	LOC126862457, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990935	NM_001128159.3(VPS53):c.1117-6T>C	LOC126862457, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984145	NM_001128159.3(VPS53):c.1117-15A>C	LOC126862457, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981441	NM_001128159.3(VPS53):c.1117-13A>G	LOC126862457, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973272	NM_001128159.3(VPS53):c.1611G>A (p.Glu537=)	LOC126862456, VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972376	NM_001128159.3(VPS53):c.1218+16G>A	LOC126862457, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971075	NM_001128159.3(VPS53):c.1218+15C>T	LOC126862457, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969787	NM_001128159.3(VPS53):c.1218+9G>A	LOC126862457, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957875	NM_001128159.3(VPS53):c.1704+17G>C	LOC126862456, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957152	NM_001128159.3(VPS53):c.1117-8C>T	LOC126862457, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2904172	NM_001128159.3(VPS53):c.1704+8A>G	LOC126862456, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2892737	NM_001128159.3(VPS53):c.1203A>G (p.Lys401=)	LOC126862457, VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889898	NM_001128159.3(VPS53):c.1197G>A (p.Thr399=)	LOC126862457, VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886971	NM_001128159.3(VPS53):c.1575A>C (p.Gly525=)	LOC126862456, VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870198	NM_001128159.3(VPS53):c.1128G>A (p.Glu376=)	LOC126862457, VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869667	NM_001128159.3(VPS53):c.1117-7C>T	LOC126862457, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866300	NM_001128159.3(VPS53):c.1704+20C>A	LOC126862456, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831784	NM_001128159.3(VPS53):c.1695C>T (p.Thr565=)	LOC126862456, VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799004	NM_001128159.3(VPS53):c.1117-5A>G	LOC126862457, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798181	NM_001128159.3(VPS53):c.1596C>T (p.Leu532=)	VPS53, LOC126862456	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797532	NM_001128159.3(VPS53):c.1140A>G (p.Pro380=)	LOC126862457, VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790502	NM_001128159.3(VPS53):c.1117-11C>T	LOC126862457, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787540	NM_001128159.3(VPS53):c.1117-14T>A	LOC126862457, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784156	NM_001128159.3(VPS53):c.1671C>T (p.Ser557=)	LOC126862456, VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2751905	NM_001128159.3(VPS53):c.1117-16C>T	LOC126862457, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2727106	NM_001128159.3(VPS53):c.1638G>A (p.Leu546=)	LOC126862456, VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713966	NM_001128159.3(VPS53):c.1575A>T (p.Gly525=)	LOC126862456, VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2705725	NM_001128159.3(VPS53):c.1704+13G>A	LOC126862456, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2704480	NM_001128159.3(VPS53):c.1704+20C>G	LOC126862456, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2535429	NM_001128159.3(VPS53):c.1166A>G (p.Glu389Gly)	LOC126862457, VPS53 (E389G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445954	NM_001128159.3(VPS53):c.1704+1G>A	LOC126862456, VPS53	Single nucleotide variant (splice donor variant)	Pontoneocerebellar hypoplasia	GLikely pathogenic
Select item 2293392	NM_001128159.3(VPS53):c.1132C>T (p.Pro378Ser)	LOC126862457, VPS53 (P349S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1696169	NM_001128159.3(VPS53):c.1213G>C (p.Asp405His)	LOC126862457, VPS53 (D207H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1306643	NM_001128159.3(VPS53):c.1565C>G (p.Thr522Ser)	LOC126862456, VPS53 (T324S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1271423	NM_001128159.3(VPS53):c.1117-116_1117-114del	VPS53, LOC126862457	Deletion (intron variant)	not provided	GBenign
Select item 1271173	NM_001128159.3(VPS53):c.1117-114T>C	LOC126862457, VPS53	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264041	NM_001128159.3(VPS53):c.1117-113A>G	LOC126862457, VPS53	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234701	NM_001128159.3(VPS53):c.1117-174G>T	LOC126862457, VPS53	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220304	NM_001128159.3(VPS53):c.1117-165C>T	LOC126862457, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204373	NM_001128159.3(VPS53):c.1218+161del	LOC126862457, VPS53	Deletion (intron variant)	not provided	GLikely benign
Select item 1193337	NM_001128159.3(VPS53):c.1117-148C>T	LOC126862457, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185789	NM_001128159.3(VPS53):c.1218+147A>G	LOC126862457, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185461	NM_001128159.3(VPS53):c.1117-26T>C	VPS53, LOC126862457	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 2E +1 more	GBenign
Select item 1185378	NM_001128159.3(VPS53):c.1557-30T>C	VPS53, LOC126862456	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 758239	NM_001128159.3(VPS53):c.1670G>A (p.Ser557Asn)	LOC126862456, VPS53 (S557N +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 751106	NM_001128159.3(VPS53):c.1158G>T (p.Leu386=)	LOC126862457, VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 672328	NM_001128159.3(VPS53):c.1117-154C>T	LOC126862457, VPS53	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670860	NM_001128159.3(VPS53):c.1117-91C>G	VPS53, LOC126862457	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 2E +1 more	GBenign
Select item 670839	NM_001128159.3(VPS53):c.1218+57G>C	LOC126862457, VPS53	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 516685	NM_001128159.3(VPS53):c.1148A>G (p.Asn383Ser)	LOC126862457, VPS53 (N383S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 385372	NM_001128159.3(VPS53):c.1218A>G (p.Gln406=)	LOC126862457, VPS53	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 384134	NM_001128159.3(VPS53):c.1674G>A (p.Thr558=)	LOC126862456, VPS53	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 380925	NM_001128159.3(VPS53):c.1124T>G (p.Leu375Arg)	LOC126862457, VPS53 (L375R +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 380924	NM_001128159.3(VPS53):c.1117-3C>T	LOC126862457, VPS53	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 2E +2 more	GBenign

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Items: 58