"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "VPS16"[gen - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2498877	NM_022575.4(VPS16):c.-6C>G	PCED1A, VPS16	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1879531	NM_022575.4(VPS16):c.51C>G (p.Tyr17Ter)	PCED1A, VPS16 (Y17*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2652155	NM_022575.4(VPS16):c.54-4G>A	VPS16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652156	NM_022575.4(VPS16):c.198C>G (p.Leu66=)	VPS16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2498878	NM_022575.4(VPS16):c.286G>A (p.Glu96Lys)	VPS16 (E96K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652157	NM_022575.4(VPS16):c.375G>A (p.Val125=)	VPS16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652158	NM_022575.4(VPS16):c.411C>T (p.His137=)	VPS16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652159	NM_022575.4(VPS16):c.636C>T (p.Pro212=)	VPS16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2410622	NM_022575.4(VPS16):c.949C>T (p.Arg317Cys)	VPS16 (R317C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2652160	NM_022575.4(VPS16):c.1254C>T (p.Phe418=)	VPS16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2652161	NM_022575.4(VPS16):c.1348A>G (p.Ile450Val)	VPS16 (I306V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2652162	NM_022575.4(VPS16):c.1814G>A (p.Arg605Gln)	PTPRA, VPS16 (R461Q +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1711535	NM_022575.4(VPS16):c.1840G>A (p.Glu614Lys)	PTPRA, VPS16 (E470K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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)	not provided +1 more	GPathogenic
Select item 1675851	NM_022575.4(VPS16):c.1952T>G (p.Leu651Arg)	PTPRA, VPS16 (L507R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2652163	NM_022575.4(VPS16):c.2028C>T (p.Leu676=)	PTPRA, VPS16	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2652164	NM_022575.4(VPS16):c.2033G>T (p.Arg678Leu)	PTPRA, VPS16 (R534L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2498879	NM_022575.4(VPS16):c.2113C>G (p.Leu705Val)	PTPRA, VPS16 (L561V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2571132	NM_022575.4(VPS16):c.2182T>C (p.Trp728Arg)	PTPRA, VPS16 (W584R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2652165	NM_022575.4(VPS16):c.2310C>T (p.Tyr770=)	PTPRA, VPS16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SLC24A3, SLC4A11 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TRIB3, TRMT6 +114 more	Copy number gain	not provided	GPathogenic

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Items: 24