Related gene-specific medical variations for Gene (Select 5786) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366193	NM_022575.4(VPS16):c.1914T>G (p.Tyr638Ter)	PTPRA, VPS16 (Y494* +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3336125	NM_022575.4(VPS16):c.2491C>T (p.Arg831Trp)	PTPRA, VPS16 (R687W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332210	NM_022575.4(VPS16):c.2453C>T (p.Thr818Met)	PTPRA, VPS16 (T818M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3250864	NM_022575.4(VPS16):c.1737G>A (p.Leu579=)	PTPRA, VPS16	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3234309	NM_022575.4(VPS16):c.2287T>C (p.Cys763Arg)	PTPRA, VPS16 (C619R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3188841	NM_022575.4(VPS16):c.2501C>A (p.Ala834Glu)	PTPRA, VPS16 (A690E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3188840	NM_022575.4(VPS16):c.2414G>A (p.Arg805Gln)	PTPRA, VPS16 (R661Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3188838	NM_022575.4(VPS16):c.2054A>T (p.Asp685Val)	PTPRA, VPS16 (D685V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3188837	NM_022575.4(VPS16):c.2044C>T (p.Arg682Cys)	PTPRA, VPS16 (R538C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3188836	NM_022575.4(VPS16):c.1928G>A (p.Arg643His)	PTPRA, VPS16 (R499H +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3188835	NM_022575.4(VPS16):c.1634C>T (p.Ser545Leu)	PTPRA, VPS16 (S401L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3149263	NM_001385305.1(PTPRA):c.1840A>G (p.Ile614Val)	LOC126862954, PTPRA (I464V +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 2636713	NM_022575.4(VPS16):c.1618G>A (p.Glu540Lys)	PTPRA, VPS16 (E396K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	VPS16-related disorder	GUncertain significance
Select item 2609839	NM_022575.4(VPS16):c.2401G>C (p.Ala801Pro)	PTPRA, VPS16 (A657P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600547	NM_022575.4(VPS16):c.2024G>A (p.Arg675Gln)	PTPRA, VPS16 (R531Q +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	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 2570163	NM_022575.4(VPS16):c.1699G>A (p.Glu567Lys)	PTPRA, VPS16 (E567K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546838	NM_001385305.1(PTPRA):c.1810A>G (p.Ile604Val)	LOC126862954, PTPRA (I463V +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530453	NM_022575.4(VPS16):c.2203G>A (p.Ala735Thr)	PTPRA, VPS16 (A591T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2503351	NM_022575.4(VPS16):c.1772dup (p.Met592fs)	PTPRA, VPS16 (M448fs +1 more)	Duplication (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2501321	NM_022575.4(VPS16):c.1798del (p.Ala600fs)	PTPRA, VPS16 (A456fs +1 more)	Deletion (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 +1 more	GUncertain significance
Select item 2430290	NM_022575.4(VPS16):c.2272-18C>A	PTPRA, VPS16	Single nucleotide variant (intron variant)	See cases	GLikely pathogenic
Select item 2403564	NM_022575.4(VPS16):c.2042G>A (p.Arg681Gln)	PTPRA, VPS16 (R537Q +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389629	NM_022575.4(VPS16):c.2042G>C (p.Arg681Pro)	VPS16, PTPRA (R537P +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382513	NM_022575.4(VPS16):c.2132G>A (p.Arg711His)	PTPRA, VPS16 (R567H +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368241	NM_022575.4(VPS16):c.2413C>T (p.Arg805Trp)	PTPRA, VPS16 (R661W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334991	NM_022575.4(VPS16):c.1826A>T (p.Lys609Met)	PTPRA, VPS16 (K609M +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306309	NM_022575.4(VPS16):c.1705G>A (p.Gly569Arg)	PTPRA, VPS16 (G569R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305483	NM_022575.4(VPS16):c.1630C>T (p.Arg544Cys)	PTPRA, VPS16 (R544C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255994	NM_022575.4(VPS16):c.2041C>T (p.Arg681Trp)	PTPRA, VPS16 (R681W +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251095	NM_022575.4(VPS16):c.2087T>C (p.Leu696Pro)	PTPRA, VPS16 (L696P +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241954	NM_022575.4(VPS16):c.2131C>T (p.Arg711Cys)	PTPRA, VPS16 (R711C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239791	NM_022575.4(VPS16):c.1663A>G (p.Met555Val)	PTPRA, VPS16 (M411V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232016	NM_001385305.1(PTPRA):c.1885A>G (p.Ile629Val)	LOC126862954, PTPRA (I303V +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1804074	NM_022575.4(VPS16):c.1988_1989insG (p.Asn663fs)	VPS16, PTPRA (N519fs +1 more)	Insertion (5 prime UTR variant +1 more)	Dystonia 30	GLikely pathogenic
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 1687303	NM_022575.4(VPS16):c.2005-10G>A	PTPRA, VPS16	Single nucleotide variant (intron variant)	Dystonia 30	GUncertain significance
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 1275531	NM_022575.4(VPS16):c.1749C>T (p.Asn583=)	PTPRA, VPS16	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1227928	NM_022575.4(VPS16):c.2271+148G>A	PTPRA, VPS16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223369	NM_022575.4(VPS16):c.1818+22G>A	PTPRA, VPS16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1184932	NM_022575.4(VPS16):c.1939C>T (p.Arg647Ter)	VPS16, PTPRA (R503* +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1180295	NM_022575.4(VPS16):c.1698C>T (p.Ile566=)	PTPRA, VPS16	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
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

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Links from Gene

Items: 49