ClinVar for MedGen (Select 862925) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1234128	NM_001128159.3(VPS53):c.1314-19dup	VPS53	Duplication (intron variant)	not provided +1 more	GBenign
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 1185460	NM_001128159.3(VPS53):c.1218+817A>G	VPS53	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 2E	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 1032644	NM_001128159.3(VPS53):c.959T>G (p.Phe320Cys)	VPS53 (F320C +2 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2E	GUncertain significance
Select item 1029113	NM_001128159.3(VPS53):c.2420T>C (p.Leu807Pro)	VPS53 (L807P)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2E	GUncertain significance
Select item 1029112	NM_001128159.3(VPS53):c.2365C>G (p.Leu789Val)	VPS53 (L789V)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2E	GUncertain significance
Select item 1029111	NM_001128159.3(VPS53):c.2329G>C (p.Gly777Arg)	VPS53 (G777R)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2E	GUncertain significance
Select item 1029110	NM_001128159.3(VPS53):c.2006A>G (p.Lys669Arg)	VPS53 (K471R +2 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2E	GUncertain significance
Select item 984594	NM_001128159.3(VPS53):c.1247C>A (p.Pro416Gln)	VPS53 (P218Q +2 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2E	GUncertain significance
Select item 818227	NM_001128159.3(VPS53):c.692C>T (p.Pro231Leu)	VPS53 (P202L +2 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2E	GLikely pathogenic
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 670858	NM_001128159.3(VPS53):c.1867-71T>C	VPS53	Single nucleotide variant (intron variant)	not provided +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 670835	NM_001128159.3(VPS53):c.218+102C>G	VPS53	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 2E +1 more	GBenign
Select item 670269	NM_001128159.3(VPS53):c.1867-81C>T	VPS53	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 2E +1 more	GBenign
Select item 670268	NM_001128159.3(VPS53):c.-90C>T	VPS53	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 557943	NM_001128159.3(VPS53):c.1516C>T (p.Arg506Ter)	VPS53 (R506* +2 more)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 2E	GLikely pathogenic
Select item 554119	NM_001128159.3(VPS53):c.1312_1313+2del	VPS53	Deletion (splice donor variant)	Pontoneocerebellar hypoplasia +2 more	GLikely pathogenic
Select item 551839	NM_001128159.3(VPS53):c.2347C>T (p.Gln783Ter)	VPS53 (Q783*)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 2E	GUncertain significance
Select item 444390	NM_001128159.3(VPS53):c.584C>T (p.Pro195Leu)	VPS53 (P195L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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
Select item 380894	NM_001128159.3(VPS53):c.81C>T (p.Ile27=)	VPS53	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 2E +2 more	GBenign
Select item 380879	NM_001128159.3(VPS53):c.2328+15A>G	VPS53	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 2E +2 more	GBenign
Select item 380878	NM_001128159.3(VPS53):c.1524C>T (p.Tyr508=)	VPS53	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 380877	NM_001128159.3(VPS53):c.219-11T>C	VPS53	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 2E +2 more	GBenign
Select item 376850	NM_001128159.3(VPS53):c.2062A>G (p.Ile688Val)	VPS53 (I688V +2 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2E +1 more	GBenign/Likely benign
Select item 139445	NM_001128159.3(VPS53):c.1556+5G>A	VPS53	Single nucleotide variant (intron variant)	Pontoneocerebellar hypoplasia +2 more	GPathogenic/Likely pathogenic
Select item 139444	NM_001128159.3(VPS53):c.2084A>G (p.Gln695Arg)	VPS53 (Q695R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic

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Items: 29