ClinVar for Gene (Select 5786) - ClinVar - NCBI

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	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 3311484	NM_001385305.1(PTPRA):c.2260G>A (p.Ala754Thr)	PTPRA (A644T +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311483	NM_001385305.1(PTPRA):c.857C>T (p.Pro286Leu)	PTPRA (P277L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3311480	NM_001385305.1(PTPRA):c.232A>T (p.Thr78Ser)	PTPRA (T78S +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	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 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 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 3149268	NM_001385305.1(PTPRA):c.496G>A (p.Val166Met)	PTPRA (V168M +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3149267	NM_001385305.1(PTPRA):c.461C>T (p.Ala154Val)	PTPRA (A165V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3149266	NM_001385305.1(PTPRA):c.358C>A (p.Pro120Thr)	PTPRA (P120T +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3149265	NM_001385305.1(PTPRA):c.2122G>A (p.Gly708Ser)	PTPRA (G593S +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149264	NM_001385305.1(PTPRA):c.1993G>A (p.Glu665Lys)	PTPRA (E550K +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 3149262	NM_001385305.1(PTPRA):c.1589A>G (p.Asn530Ser)	PTPRA (N391S +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149261	NM_001385305.1(PTPRA):c.1408G>C (p.Val470Leu)	PTPRA (V144L +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3149260	NM_001385305.1(PTPRA):c.1279G>A (p.Val427Met)	PTPRA (V427M +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3149259	NM_001385305.1(PTPRA):c.1051G>A (p.Ala351Thr)	PTPRA (A236T +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	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	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TMEM74B, TMX4 +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 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 2595845	NM_001385305.1(PTPRA):c.2178C>G (p.His726Gln)	PTPRA (H587Q +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 2509901	NM_001385305.1(PTPRA):c.317C>T (p.Thr106Met)	PTPRA (T106M +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	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 2494985	NM_001385305.1(PTPRA):c.2007G>C (p.Glu669Asp)	PTPRA (E530D +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483800	NM_001385305.1(PTPRA):c.2357A>G (p.Lys786Arg)	PTPRA (K460R +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472385	NM_001385305.1(PTPRA):c.1462G>A (p.Asp488Asn)	PTPRA (D490N +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2464093	NM_001385305.1(PTPRA):c.2242G>A (p.Val748Ile)	PTPRA (V609I +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2446383	GRCh37/hg19 20p13-12.3(chr20:3034557-5524417)x1	MAVS, OXT +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 2430290	NM_022575.4(VPS16):c.2272-18C>A	PTPRA, VPS16	Single nucleotide variant (intron variant)	See cases	GLikely pathogenic
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	CDS2, CENPB +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 2411198	NM_001385305.1(PTPRA):c.611G>A (p.Ser204Asn)	PTPRA (S206N +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2407837	NM_001385305.1(PTPRA):c.329A>G (p.Asp110Gly)	PTPRA (D110G +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	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 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 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 2380015	NM_001385305.1(PTPRA):c.2023G>T (p.Asp675Tyr)	PTPRA (D349Y +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375040	NM_001385305.1(PTPRA):c.2146G>A (p.Val716Met)	PTPRA (V390M +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 2364896	NM_001385305.1(PTPRA):c.2238C>A (p.Ser746Arg)	PTPRA (S631R +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361666	NM_001385305.1(PTPRA):c.5A>T (p.Asp2Val)	PTPRA (D2V +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2349635	NM_001385305.1(PTPRA):c.303T>G (p.Ile101Met)	PTPRA (I101M +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2337563	NM_001385305.1(PTPRA):c.364G>A (p.Glu122Lys)	PTPRA (E133K +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	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 2333595	NM_001385305.1(PTPRA):c.1138G>A (p.Val380Ile)	PTPRA (V382I +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2332912	NM_001385305.1(PTPRA):c.1179C>A (p.Asn393Lys)	PTPRA (N278K +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2328585	NM_001385305.1(PTPRA):c.2033T>C (p.Val678Ala)	PTPRA (V680A +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309053	NM_001385305.1(PTPRA):c.2129T>G (p.Ile710Ser)	PTPRA (I611S +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 2303359	NM_001385305.1(PTPRA):c.563A>G (p.Asn188Ser)	PTPRA (N179S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2302775	NM_001385305.1(PTPRA):c.613G>A (p.Val205Met)	PTPRA (V216M +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2282832	NM_001385305.1(PTPRA):c.1096C>T (p.Arg366Trp)	PTPRA (R243W +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2281244	NM_001385305.1(PTPRA):c.2212A>G (p.Arg738Gly)	PTPRA (R628G +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277625	NM_001385305.1(PTPRA):c.239A>G (p.Asn80Ser)	PTPRA (N80S +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	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 2229795	NM_001385305.1(PTPRA):c.32G>T (p.Gly11Val)	PTPRA (G22V +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2225449	NM_001385305.1(PTPRA):c.890A>G (p.Asn297Ser)	PTPRA (N174S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1808226	GRCh37/hg19 20p13(chr20:2845451-3084597)x3	AVP, GNRH2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808216	GRCh37/hg19 20p13(chr20:2869357-3079408)x3	AVP, GNRH2 +3 more	Copy number gain	not provided	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 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 1706505	GRCh37/hg19 20p13(chr20:2802218-4010802)x3	SPEF1, UBOX5 +26 more	Copy number gain	See cases	GUncertain significance
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)	VPS16, PTPRA (R491* +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Dystonia 30 +1 more	GPathogenic
Select item 979576	GRCh37/hg19 20p13(chr20:2802218-4010802)x3	OXT, LZTS3 +26 more	Copy number gain	not provided	GUncertain significance
Select item 816107	GRCh37/hg19 20p13(chr20:2852007-3084597)x3	AVP, GNRH2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 816106	GRCh37/hg19 20p13(chr20:2806498-4007381)x1	CDC25B, AVP +26 more	Copy number loss	not provided	GUncertain significance

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