ClinVar for MedGen (Select 1785079) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2663845	NM_022575.4(VPS16):c.143-2A>T	VPS16	Single nucleotide variant (splice acceptor variant)	Dystonia 30	GLikely pathogenic
Select item 2576548	NM_022575.4(VPS16):c.1614G>T (p.Leu538=)	VPS16	Single nucleotide variant (synonymous variant)	Dystonia 30	GUncertain significance
Select item 2438541	NM_022575.4(VPS16):c.1521del (p.Asn508fs)	VPS16 (N364fs +1 more)	Deletion (frameshift variant)	Dystonia 30	GUncertain significance
Select item 2429767	NM_022575.4(VPS16):c.130G>A (p.Gly44Arg)	VPS16 (G44R)	Single nucleotide variant (missense variant)	Dystonia 30	GUncertain significance
Select item 1879532	NM_022575.4(VPS16):c.1332-1G>T	VPS16	Single nucleotide variant (splice acceptor variant)	Dystonia 30 +1 more	GUncertain significance
Select item 1804162	NM_022575.4(VPS16):c.784C>T (p.Arg262Trp)	VPS16 (R262W)	Single nucleotide variant (missense variant)	Dystonia 30 +1 more	GUncertain significance
Select item 1804074	NM_022575.4(VPS16):c.1988_1989insG (p.Asn663fs)	PTPRA, VPS16 (N519fs +1 more)	Insertion (5 prime UTR variant +1 more)	Dystonia 30	GLikely pathogenic
Select item 1695013	NM_022575.4(VPS16):c.1389C>G (p.Tyr463Ter)	VPS16 (Y319* +1 more)	Single nucleotide variant (nonsense)	Dystonia 30 +1 more	GLikely pathogenic
Select item 1687303	NM_022575.4(VPS16):c.2005-10G>A	PTPRA, VPS16	Single nucleotide variant (intron variant)	Dystonia 30	GUncertain significance
Select item 1065418	NM_022575.4(VPS16):c.156C>A (p.Asn52Lys)	VPS16 (N52K)	Single nucleotide variant (missense variant)	Dystonia 30	GPathogenic
Select item 1065417	NM_022575.4(VPS16):c.244_259delinsGAGAGC (p.Lys82fs)	VPS16 (K82fs)	Indel (frameshift variant)	Dystonia 30	GPathogenic
Select item 1065416	NM_022575.4(VPS16):c.1367+2T>C	VPS16	Single nucleotide variant (splice donor variant)	Dystonia 30	GPathogenic
Select item 1065414	NM_022575.4(VPS16):c.1094_1095dup (p.Tyr366fs)	VPS16 (Y366fs)	Duplication (frameshift variant +1 more)	Dystonia 30	GPathogenic
Select item 1065413	NM_022575.4(VPS16):c.559C>T (p.Arg187Ter)	VPS16 (R187*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 987481	NM_022575.4(VPS16):c.1903C>T (p.Arg635Ter)	PTPRA, VPS16 (R491* +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Dystonia 30 +1 more	GPathogenic
Select item 976681	NM_022575.4(VPS16):c.1335T>G (p.Tyr445Ter)	VPS16 (Y301* +1 more)	Single nucleotide variant (nonsense)	VPS16-associated disorder	GPathogenic