PTPRB[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	BEST3, CAND1 +163 more	Copy number loss	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	ATXN7L3B, BEST3 +141 more	Copy number loss	See cases	GLikely pathogenic
Select item 147046	GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1	ATXN7L3B, BBS10 +125 more	Copy number loss	See cases	GPathogenic
Select item 59023	GRCh38/hg38 12q15(chr12:70029314-70599455)x1	CNOT2, KCNMB4 +12 more	Copy number loss	See cases	GPathogenic
Select item 57583	GRCh38/hg38 12q15-21.1(chr12:70051305-71116195)x1	CNOT2, KCNMB4 +16 more	Copy number loss	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +163 more	Copy number loss	See cases	GPathogenic
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 2351921	NM_001109754.4(PTPRB):c.6466G>A (p.Asp2156Asn)	PTPRB (D1938N +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 2278779	NM_001109754.4(PTPRB):c.6344C>T (p.Ala2115Val)	PTPRB (A1807V +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 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 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 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 2247945	NM_001109754.4(PTPRB):c.6049G>A (p.Val2017Ile)	PTPRB (V1709I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 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 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 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 2332726	NM_001109754.4(PTPRB):c.5626A>T (p.Ser1876Cys)	PTPRB (S1658C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308220	NM_001109754.4(PTPRB):c.5590G>A (p.Val1864Met)	PTPRB (V1646M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784303	NM_001109754.4(PTPRB):c.5448A>G (p.Pro1816=)	PTPRB	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1330762	NM_001109754.4(PTPRB):c.5216T>C (p.Ile1739Thr)	PTPRB (I1431T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2261192	NM_001109754.4(PTPRB):c.5207A>G (p.Asn1736Ser)	PTPRB (N1736S +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 710173	NM_001109754.4(PTPRB):c.5097C>G (p.Thr1699=)	PTPRB	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2239901	NM_001109754.4(PTPRB):c.4999C>G (p.Pro1667Ala)	PTPRB (P1579A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227976	NM_001109754.4(PTPRB):c.4940C>T (p.Ser1647Leu)	PTPRB (S1559L +3 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 2365029	NM_001109754.4(PTPRB):c.4738C>A (p.His1580Asn)	PTPRB (H1362N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 1226769	NM_001109754.4(PTPRB):c.4560A>G (p.Ala1520=)	PTPRB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2261132	NM_001109754.4(PTPRB):c.4369G>A (p.Val1457Met)	PTPRB (V1149M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245979	NM_001109754.4(PTPRB):c.4337G>A (p.Arg1446Gln)	PTPRB (R1228Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332821	NM_001109754.4(PTPRB):c.4316A>G (p.Asp1439Gly)	PTPRB (D1351G +3 more)	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 2205742	NM_001109754.4(PTPRB):c.4049T>C (p.Val1350Ala)	PTPRB (V1262A +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 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 2287867	NM_001109754.4(PTPRB):c.3896G>A (p.Gly1299Asp)	PTPRB (G1211D +3 more)	Single nucleotide variant (missense variant +1 more)	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 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 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 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 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 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 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 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 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 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 1330551	NM_001109754.4(PTPRB):c.3448G>T (p.Gly1150Trp)	PTPRB (G1062W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 770986	NM_001109754.4(PTPRB):c.3424C>T (p.Leu1142=)	PTPRB	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 775312	NM_001109754.4(PTPRB):c.3370+4A>G	PTPRB	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 2281214	NM_001109754.4(PTPRB):c.3284C>G (p.Ser1095Cys)	PTPRB (S1095C +3 more)	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 2223314	NM_001109754.4(PTPRB):c.3194A>C (p.Asp1065Ala)	PTPRB (D757A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255250	NM_001109754.4(PTPRB):c.3137G>A (p.Arg1046His)	PTPRB (R828H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227838	NM_001109754.4(PTPRB):c.3026T>C (p.Val1009Ala)	PTPRB (V701A +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 2256178	NM_001109754.4(PTPRB):c.2994G>C (p.Lys998Asn)	PTPRB (K690N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275918	NM_001109754.4(PTPRB):c.2920A>G (p.Thr974Ala)	PTPRB (T666A +3 more)	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 2214299	NM_001109754.4(PTPRB):c.2861G>A (p.Gly954Glu)	PTPRB (G646E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262221	NM_001109754.4(PTPRB):c.2753G>A (p.Ser918Asn)	PTPRB (S700N +2 more)	Single nucleotide variant (missense variant +1 more)	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 3042234	NM_001109754.4(PTPRB):c.2579-31C>A	PTPRB	Single nucleotide variant (intron variant)	PTPRB-related disorder	GLikely benign
Select item 2217258	NM_001109754.4(PTPRB):c.2500G>A (p.Gly834Ser)	PTPRB (G616S +2 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 2235408	NM_001109754.4(PTPRB):c.2347C>A (p.Gln783Lys)	PTPRB (Q565K +2 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 2248943	NM_001109754.4(PTPRB):c.2230G>A (p.Val744Met)	PTPRB (V526M +2 more)	Single nucleotide variant (missense variant)	not specified	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 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 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 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 2221395	NM_001109754.4(PTPRB):c.1697T>C (p.Leu566Ser)	PTPRB (L348S +1 more)	Single nucleotide variant (missense variant)	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 2289410	NM_001109754.4(PTPRB):c.1608T>G (p.Asp536Glu)	PTPRB (D318E +1 more)	Single nucleotide variant (missense variant)	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 2519260	NM_001109754.4(PTPRB):c.1495A>G (p.Arg499Gly)	PTPRB (R281G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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