ClinVar for Gene (Select 5787) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311505	NM_001109754.4(PTPRB):c.5515G>C (p.Glu1839Gln)	PTPRB (E1531Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311503	NM_001109754.4(PTPRB):c.4542G>T (p.Gln1514His)	PTPRB (Q1426H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311502	NM_001109754.4(PTPRB):c.2977A>G (p.Thr993Ala)	PTPRB (T775A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311501	NM_001109754.4(PTPRB):c.5054C>T (p.Ser1685Phe)	PTPRB (S1597F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311500	NM_001109754.4(PTPRB):c.3845A>G (p.Gln1282Arg)	PTPRB (Q1064R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311499	NM_001109754.4(PTPRB):c.287A>G (p.Tyr96Cys)	PTPRB (Y96C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311498	NM_001109754.4(PTPRB):c.4690C>T (p.Pro1564Ser)	PTPRB (P1346S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311497	NM_001109754.4(PTPRB):c.5758C>A (p.Leu1920Ile)	PTPRB (L1612I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311496	NM_001109754.4(PTPRB):c.4146G>C (p.Glu1382Asp)	PTPRB (E1164D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311495	NM_001109754.4(PTPRB):c.3914C>T (p.Ala1305Val)	PTPRB (A1217V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311494	NM_001109754.4(PTPRB):c.137C>T (p.Thr46Ile)	PTPRB (T46I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311492	NM_001109754.4(PTPRB):c.691T>G (p.Ser231Ala)	PTPRB (S231A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311491	NM_001109754.4(PTPRB):c.3769C>T (p.Arg1257Cys)	PTPRB (R1257C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311490	NM_001109754.4(PTPRB):c.5215A>G (p.Ile1739Val)	PTPRB (I1521V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311489	NM_001109754.4(PTPRB):c.3442C>G (p.Pro1148Ala)	PTPRB (P1060A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311488	NM_001109754.4(PTPRB):c.751G>A (p.Glu251Lys)	PTPRB (E251K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311487	NM_001109754.4(PTPRB):c.1346G>A (p.Arg449Gln)	PTPRB (R231Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3311486	NM_001109754.4(PTPRB):c.2515G>A (p.Val839Met)	PTPRB (V531M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311485	NM_001109754.4(PTPRB):c.1467G>A (p.Met489Ile)	PTPRB (M271I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149307	NM_001109754.4(PTPRB):c.797T>G (p.Leu266Trp)	PTPRB (L48W +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3149306	NM_001109754.4(PTPRB):c.668T>C (p.Val223Ala)	PTPRB (V223A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149305	NM_001109754.4(PTPRB):c.6541G>A (p.Val2181Ile)	PTPRB (V1873I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149304	NM_001109754.4(PTPRB):c.6254T>C (p.Val2085Ala)	PTPRB (V2085A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149302	NM_001109754.4(PTPRB):c.6184C>T (p.Arg2062Trp)	PTPRB (R1754W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149301	NM_001109754.4(PTPRB):c.6107C>T (p.Ala2036Val)	PTPRB (A1728V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149300	NM_001109754.4(PTPRB):c.6036C>G (p.Asn2012Lys)	PTPRB (N1924K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149299	NM_001109754.4(PTPRB):c.5882G>A (p.Arg1961Gln)	PTPRB (R1961Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149298	NM_001109754.4(PTPRB):c.5776G>C (p.Glu1926Gln)	PTPRB (E1618Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149297	NM_001109754.4(PTPRB):c.503C>T (p.Pro168Leu)	PTPRB (P168L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149296	NM_001109754.4(PTPRB):c.458T>C (p.Leu153Pro)	PTPRB (L153P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149295	NM_001109754.4(PTPRB):c.454G>A (p.Gly152Ser)	PTPRB (G152S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149293	NM_001109754.4(PTPRB):c.4273A>G (p.Ile1425Val)	PTPRB (I1117V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149292	NM_001109754.4(PTPRB):c.4024G>A (p.Gly1342Arg)	PTPRB (G1124R +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3149291	NM_001109754.4(PTPRB):c.4007T>G (p.Phe1336Cys)	PTPRB (F1028C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149290	NM_001109754.4(PTPRB):c.3965G>A (p.Arg1322His)	PTPRB (R1014H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149289	NM_001109754.4(PTPRB):c.3964C>T (p.Arg1322Cys)	PTPRB (R1104C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149288	NM_001109754.4(PTPRB):c.3836A>T (p.Tyr1279Phe)	PTPRB (Y1191F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149287	NM_001109754.4(PTPRB):c.3770G>A (p.Arg1257His)	PTPRB (R949H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3149286	NM_001109754.4(PTPRB):c.3629G>A (p.Arg1210Gln)	PTPRB (R1122Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149285	NM_001109754.4(PTPRB):c.3397A>T (p.Ile1133Phe)	PTPRB (I915F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149284	NM_001109754.4(PTPRB):c.3346T>C (p.Ser1116Pro)	PTPRB (S1116P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149283	NM_001109754.4(PTPRB):c.3007T>G (p.Cys1003Gly)	PTPRB (C915G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149282	NM_001109754.4(PTPRB):c.272C>T (p.Pro91Leu)	PTPRB (P91L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149281	NM_001109754.4(PTPRB):c.2657C>A (p.Pro886His)	PTPRB (P886H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149280	NM_001109754.4(PTPRB):c.257G>A (p.Arg86His)	PTPRB (R86H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3149279	NM_001109754.4(PTPRB):c.247A>T (p.Ile83Phe)	PTPRB (I83F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149278	NM_001109754.4(PTPRB):c.2046G>T (p.Arg682Ser)	PTPRB (R682S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149277	NM_001109754.4(PTPRB):c.2019G>T (p.Leu673Phe)	PTPRB (L673F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149275	NM_001109754.4(PTPRB):c.2011G>A (p.Gly671Arg)	PTPRB (G671R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149274	NM_001109754.4(PTPRB):c.1567T>A (p.Ser523Thr)	PTPRB (S305T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149273	NM_001109754.4(PTPRB):c.1547C>T (p.Thr516Ile)	PTPRB (T298I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149272	NM_001109754.4(PTPRB):c.1390G>A (p.Gly464Ser)	PTPRB (G464S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3149271	NM_001109754.4(PTPRB):c.136A>G (p.Thr46Ala)	PTPRB (T46A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149270	NM_001109754.4(PTPRB):c.1283G>T (p.Gly428Val)	PTPRB (G210V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063262	GRCh37/hg19 12q15-21.1(chr12:69498859-74073631)x1	BEST3, CCT2 +20 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063251	GRCh37/hg19 12q15(chr12:70430549-70988542)x1	CNOT2, KCNMB4 +1 more	Copy number loss	not specified	GLikely pathogenic
Select item 3042234	NM_001109754.4(PTPRB):c.2579-31C>A	PTPRB	Single nucleotide variant (intron variant)	PTPRB-related disorder	GLikely benign
Select item 2684677	GRCh37/hg19 12q15(chr12:70973596-71231223)x3	PTPRB, PTPRR	Copy number gain	not provided	GUncertain significance
Select item 2643177	NM_001109754.4(PTPRB):c.2064C>T (p.Val688=)	PTPRB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643176	NM_001109754.4(PTPRB):c.4648G>A (p.Val1550Ile)	PTPRB (V1242I +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2643175	NM_001109754.4(PTPRB):c.5069C>T (p.Thr1690Ile)	PTPRB (T1382I +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2620512	NM_001109754.4(PTPRB):c.1052C>A (p.Thr351Asn)	PTPRB (T133N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617398	NM_001109754.4(PTPRB):c.713G>C (p.Gly238Ala)	PTPRB (G20A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614735	NM_001109754.4(PTPRB):c.4752G>C (p.Gln1584His)	PTPRB (Q1584H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604428	NM_001109754.4(PTPRB):c.3820A>G (p.Thr1274Ala)	PTPRB (T1056A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598047	NM_001109754.4(PTPRB):c.1363A>G (p.Met455Val)	PTPRB (M237V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597436	NM_001109754.4(PTPRB):c.3628C>T (p.Arg1210Trp)	PTPRB (R1122W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596150	NM_001109754.4(PTPRB):c.3423C>A (p.Ser1141Arg)	PTPRB (S1141R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595953	NM_001109754.4(PTPRB):c.5812G>A (p.Asp1938Asn)	PTPRB (D1630N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593817	NM_001109754.4(PTPRB):c.6235C>T (p.Arg2079Cys)	PTPRB (R1771C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555186	NM_001109754.4(PTPRB):c.3706A>G (p.Lys1236Glu)	PTPRB (K1236E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553233	NM_001109754.4(PTPRB):c.1889T>G (p.Leu630Arg)	PTPRB (L412R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548721	NM_001109754.4(PTPRB):c.1373G>T (p.Gly458Val)	PTPRB (G240V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539481	NM_001109754.4(PTPRB):c.3342G>T (p.Gln1114His)	PTPRB (Q1114H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530072	NM_001109754.4(PTPRB):c.5953A>G (p.Asn1985Asp)	PTPRB (N1767D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528647	NM_001109754.4(PTPRB):c.584A>C (p.Asn195Thr)	PTPRB (N195T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527307	NM_001109754.4(PTPRB):c.2873G>C (p.Ser958Thr)	PTPRB (S958T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520125	NM_001109754.4(PTPRB):c.5644C>T (p.Pro1882Ser)	PTPRB (P1664S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519260	NM_001109754.4(PTPRB):c.1495A>G (p.Arg499Gly)	PTPRB (R281G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510866	NM_001109754.4(PTPRB):c.3356T>C (p.Ile1119Thr)	PTPRB (I1031T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491392	NM_001109754.4(PTPRB):c.5798G>A (p.Arg1933Gln)	PTPRB (R1715Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491063	NM_001109754.4(PTPRB):c.3947C>A (p.Thr1316Asn)	PTPRB (T1098N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487669	NM_001109754.4(PTPRB):c.3646G>C (p.Val1216Leu)	PTPRB (V1128L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478411	NM_001109754.4(PTPRB):c.1621A>G (p.Thr541Ala)	PTPRB (T541A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477463	NM_001109754.4(PTPRB):c.6067G>C (p.Val2023Leu)	PTPRB (V1715L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471977	NM_001109754.4(PTPRB):c.5129T>C (p.Val1710Ala)	PTPRB (V1492A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461680	NM_001109754.4(PTPRB):c.3877A>G (p.Lys1293Glu)	PTPRB (K1293E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459276	NM_001109754.4(PTPRB):c.3500T>C (p.Val1167Ala)	PTPRB (V859A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408680	NM_001109754.4(PTPRB):c.3407A>G (p.Asn1136Ser)	PTPRB (N1048S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408438	NM_001109754.4(PTPRB):c.2398G>A (p.Val800Ile)	PTPRB (V582I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2406861	NM_001109754.4(PTPRB):c.872T>C (p.Ile291Thr)	PTPRB (I291T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405992	NM_001109754.4(PTPRB):c.3659T>C (p.Ile1220Thr)	PTPRB (I1132T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2404999	NM_001109754.4(PTPRB):c.6037G>A (p.Val2013Ile)	PTPRB (V1925I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399165	NM_001109754.4(PTPRB):c.6461T>C (p.Val2154Ala)	PTPRB (V1846A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380642	NM_001109754.4(PTPRB):c.2293T>G (p.Ser765Ala)	PTPRB (S547A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380248	NM_001109754.4(PTPRB):c.1705G>A (p.Gly569Ser)	PTPRB (G351S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377834	NM_001109754.4(PTPRB):c.4646A>G (p.Asn1549Ser)	PTPRB (N1331S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2375676	NM_001109754.4(PTPRB):c.435C>A (p.Ser145Arg)	PTPRB (S145R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374136	NM_001109754.4(PTPRB):c.3275G>A (p.Arg1092Gln)	PTPRB (R1092Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365029	NM_001109754.4(PTPRB):c.4738C>A (p.His1580Asn)	PTPRB (H1362N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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