ClinVar for Gene (Select 64601) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3332213	NM_022575.4(VPS16):c.1477G>T (p.Val493Leu)	VPS16 (V349L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332212	NM_022575.4(VPS16):c.368A>G (p.Asn123Ser)	VPS16 (N123S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332211	NM_022575.4(VPS16):c.928G>A (p.Val310Met)	VPS16 (V310M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 3332209	NM_022575.4(VPS16):c.773A>G (p.Asn258Ser)	VPS16 (N258S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332208	NM_022575.4(VPS16):c.1127T>A (p.Leu376Gln)	VPS16 (L376Q)	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 3250639	NM_022575.4(VPS16):c.633G>A (p.Thr211=)	VPS16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3248364	NC_000020.10:g.(?_2361615)_(3903941_?)dup	ADAM33, ADISSP +36 more	Duplication	not provided	GUncertain significance
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 3188845	NM_022575.4(VPS16):c.824G>A (p.Arg275His)	VPS16 (R275H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188844	NM_022575.4(VPS16):c.812G>A (p.Cys271Tyr)	VPS16 (C271Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188843	NM_022575.4(VPS16):c.676G>A (p.Ala226Thr)	VPS16 (A226T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188842	NM_022575.4(VPS16):c.496C>T (p.Arg166Trp)	VPS16 (R166W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3188839	NM_022575.4(VPS16):c.233G>T (p.Ser78Ile)	VPS16 (S78I)	Single nucleotide variant (missense variant)	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 3188834	NM_022575.4(VPS16):c.1421G>A (p.Arg474His)	VPS16 (R330H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188833	NM_022575.4(VPS16):c.136C>T (p.Pro46Ser)	VPS16 (P46S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188832	NM_022575.4(VPS16):c.1018A>G (p.Ile340Val)	VPS16 (I340V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062409	GRCh37/hg19 20p13(chr20:2640674-4323312)x3	OXT, PANK2 +33 more	Copy number gain	not specified	GUncertain significance
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	RAD21L1, RALGAPA2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	SIRPB2, SIRPD +114 more	Copy number gain	not provided	GPathogenic
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2663845	NM_022575.4(VPS16):c.143-2A>T	VPS16	Single nucleotide variant (splice acceptor variant)	Dystonia 30	GLikely pathogenic
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 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 2652160	NM_022575.4(VPS16):c.1254C>T (p.Phe418=)	VPS16	Single nucleotide variant (synonymous variant +1 more)	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 2652158	NM_022575.4(VPS16):c.411C>T (p.His137=)	VPS16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652157	NM_022575.4(VPS16):c.375G>A (p.Val125=)	VPS16	Single nucleotide variant (synonymous 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 2652155	NM_022575.4(VPS16):c.54-4G>A	VPS16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2637567	NM_022575.4(VPS16):c.775T>C (p.Cys259Arg)	VPS16 (C259R)	Single nucleotide variant (missense variant)	not specified	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 2630608	NM_022575.4(VPS16):c.1561G>T (p.Asp521Tyr)	VPS16 (D377Y +1 more)	Single nucleotide variant (missense variant)	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 2603763	NM_022575.4(VPS16):c.973G>A (p.Glu325Lys)	VPS16 (E325K)	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 2597413	NM_022575.4(VPS16):c.638C>T (p.Pro213Leu)	VPS16 (P213L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591718	NM_022575.4(VPS16):c.841G>A (p.Val281Met)	VPS16 (V281M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2576548	NM_022575.4(VPS16):c.1614G>T (p.Leu538=)	VPS16	Single nucleotide variant (synonymous variant)	Dystonia 30	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 2550076	NM_022575.4(VPS16):c.1372G>A (p.Val458Met)	VPS16 (V314M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2498878	NM_022575.4(VPS16):c.286G>A (p.Glu96Lys)	VPS16 (E96K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2491719	NM_022575.4(VPS16):c.1073A>G (p.Lys358Arg)	VPS16 (K358R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460721	NM_022575.4(VPS16):c.1090G>A (p.Asp364Asn)	VPS16 (D364N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455476	NM_022575.4(VPS16):c.1192A>C (p.Ser398Arg)	VPS16 (S398R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2430290	NM_022575.4(VPS16):c.2272-18C>A	PTPRA, VPS16	Single nucleotide variant (intron variant)	See cases	GLikely pathogenic
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 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	ADAM33, ADISSP +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 2410622	NM_022575.4(VPS16):c.949C>T (p.Arg317Cys)	VPS16 (R317C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2407723	NM_022575.4(VPS16):c.1255G>A (p.Val419Met)	VPS16 (V419M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2405924	NM_022575.4(VPS16):c.1541C>T (p.Thr514Met)	VPS16 (T370M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2398165	NM_022575.4(VPS16):c.1088C>T (p.Ala363Val)	VPS16 (A363V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392916	NM_022575.4(VPS16):c.1510G>T (p.Ala504Ser)	VPS16 (A360S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389629	NM_022575.4(VPS16):c.2042G>C (p.Arg681Pro)	PTPRA, VPS16 (R537P +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387651	NM_022575.4(VPS16):c.817C>T (p.Arg273Cys)	VPS16 (R273C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385830	NM_022575.4(VPS16):c.367A>C (p.Asn123His)	VPS16 (N123H)	Single nucleotide variant (missense variant)	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 2376890	NM_022575.4(VPS16):c.1449G>C (p.Arg483Ser)	VPS16 (R483S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373250	NM_022575.4(VPS16):c.470C>T (p.Ala157Val)	VPS16 (A157V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 2360135	NM_022575.4(VPS16):c.880G>A (p.Asp294Asn)	VPS16 (D294N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358861	NM_022575.4(VPS16):c.206A>C (p.Tyr69Ser)	VPS16 (Y69S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358054	NM_022575.4(VPS16):c.886C>T (p.Pro296Ser)	VPS16 (P296S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357982	NM_022575.4(VPS16):c.1102C>T (p.Arg368Trp)	VPS16 (R368W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2348734	NM_022575.4(VPS16):c.904G>A (p.Val302Met)	VPS16 (V302M)	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 2331483	NM_022575.4(VPS16):c.1369C>T (p.Leu457Phe)	VPS16 (L313F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329757	NM_022575.4(VPS16):c.407T>C (p.Phe136Ser)	VPS16 (F136S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324795	NM_022575.4(VPS16):c.199G>A (p.Asp67Asn)	VPS16 (D67N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323518	NM_022575.4(VPS16):c.884C>G (p.Ala295Gly)	VPS16 (A295G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313610	NM_022575.4(VPS16):c.1008A>T (p.Glu336Asp)	VPS16 (E336D)	Single nucleotide variant (missense 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 2274075	NM_022575.4(VPS16):c.1316C>T (p.Pro439Leu)	VPS16 (P439L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270943	NM_022575.4(VPS16):c.544G>C (p.Val182Leu)	VPS16 (V182L)	Single nucleotide variant (missense variant)	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 2251519	NM_022575.4(VPS16):c.1095G>C (p.Glu365Asp)	VPS16 (E365D)	Single nucleotide variant (missense 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 2246678	NM_022575.4(VPS16):c.770T>G (p.Phe257Cys)	VPS16 (F257C)	Single nucleotide variant (missense variant)	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

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