ClinVar for Gene (Select 1413) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381932	NM_001886.3(CRYBA4):c.169T>C (p.Phe57Leu)	CRYBA4 (F57L)	Single nucleotide variant (missense variant)	Cataract 23	GUncertain significance
Select item 3357731	NM_001887.4(CRYBB1):c.65A>G (p.Lys22Arg)	CRYBA4, CRYBB1 (K22R)	Single nucleotide variant (missense variant)	CRYBB1-related disorder	GUncertain significance
Select item 3351372	NM_001887.4(CRYBB1):c.30G>A (p.Ser10=)	CRYBA4, CRYBB1	Single nucleotide variant (synonymous variant)	CRYBB1-related disorder	GLikely benign
Select item 3347582	NM_001886.3(CRYBA4):c.475G>A (p.Gly159Arg)	CRYBA4 (G159R)	Single nucleotide variant (missense variant)	CRYBA4-related disorder	GUncertain significance
Select item 3345078	NM_001887.4(CRYBB1):c.*9C>T	CRYBA4, CRYBB1	Single nucleotide variant (3 prime UTR variant)	CRYBB1-related disorder	GLikely benign
Select item 3269656	NM_001887.4(CRYBB1):c.76G>C (p.Ala26Pro)	CRYBA4, CRYBB1 (A26P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3269655	NM_001887.4(CRYBB1):c.691C>T (p.Arg231Cys)	CRYBA4, CRYBB1 (R231C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3269654	NM_001886.3(CRYBA4):c.448G>A (p.Val150Ile)	CRYBA4 (V150I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3077711	NM_001887.4(CRYBB1):c.529T>C (p.Tyr177His)	CRYBA4, CRYBB1 (Y177H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3077710	NM_001887.4(CRYBB1):c.419G>A (p.Arg140Gln)	CRYBA4, CRYBB1 (R140Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3077709	NM_001887.4(CRYBB1):c.125C>A (p.Thr42Lys)	CRYBA4, CRYBB1 (T42K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3077708	NM_001886.3(CRYBA4):c.31C>A (p.Pro11Thr)	CRYBA4 (P11T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3077707	NM_001886.3(CRYBA4):c.319C>G (p.Leu107Val)	CRYBA4 (L107V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065113	NM_001887.4(CRYBB1):c.2T>A (p.Met1Lys)	CRYBA4, CRYBB1 (M1K)	Single nucleotide variant (missense variant +1 more)	Cataract 17 multiple types	GLikely pathogenic
Select item 3019176	NM_001886.3(CRYBA4):c.504C>G (p.His168Gln)	CRYBA4 (H168Q)	Single nucleotide variant (missense variant)	Cataract 23	GUncertain significance
Select item 2919001	NM_001886.3(CRYBA4):c.384C>T (p.Ser128=)	CRYBA4	Single nucleotide variant (synonymous variant)	Cataract 23	GLikely benign
Select item 2910324	NM_001886.3(CRYBA4):c.258C>T (p.Tyr86=)	CRYBA4	Single nucleotide variant (synonymous variant)	Cataract 23	GLikely benign
Select item 2892141	NM_001886.3(CRYBA4):c.40-11del	CRYBA4	Deletion (intron variant)	Cataract 23	GBenign
Select item 2865997	NM_001886.3(CRYBA4):c.60C>T (p.Asp20=)	CRYBA4	Single nucleotide variant (synonymous variant)	Cataract 23	GLikely benign
Select item 2863146	NM_001886.3(CRYBA4):c.211C>T (p.Arg71Ter)	CRYBA4 (R71*)	Single nucleotide variant (nonsense)	Cataract 23	GUncertain significance
Select item 2847247	NM_001886.3(CRYBA4):c.300+1del	CRYBA4	Deletion (splice donor variant)	Cataract 23	GUncertain significance
Select item 2776090	NM_001886.3(CRYBA4):c.345C>T (p.Phe115=)	CRYBA4	Single nucleotide variant (synonymous variant)	Cataract 23	GBenign
Select item 2747308	NM_001886.3(CRYBA4):c.510C>T (p.Ser170=)	CRYBA4	Single nucleotide variant (synonymous variant)	Cataract 23	GLikely benign
Select item 2737022	NM_001887.4(CRYBB1):c.698G>A (p.Arg233His)	CRYBA4, CRYBB1 (R233H)	Single nucleotide variant (missense variant)	Cataract 17 multiple types	GLikely pathogenic
Select item 2706094	NM_001886.3(CRYBA4):c.90G>A (p.Thr30=)	CRYBA4	Single nucleotide variant (synonymous variant)	Cataract 23	GLikely benign
Select item 2697293	NM_001886.3(CRYBA4):c.27G>A (p.Ala9=)	CRYBA4	Single nucleotide variant (synonymous variant)	Cataract 23	GLikely benign
Select item 2617599	NM_001887.4(CRYBB1):c.67G>A (p.Gly23Arg)	CRYBA4, CRYBB1 (G23R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591436	NM_001887.4(CRYBB1):c.545G>A (p.Arg182His)	CRYBA4, CRYBB1 (R182H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574045	NM_001887.4(CRYBB1):c.508G>C (p.Asp170His)	CRYBA4, CRYBB1 (D170H)	Single nucleotide variant (missense variant)	Cataract 17 multiple types	GUncertain significance
Select item 2512009	NM_001887.4(CRYBB1):c.256C>T (p.Arg86Cys)	CRYBA4, CRYBB1 (R86C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481284	NM_001887.4(CRYBB1):c.389G>C (p.Ser130Thr)	CRYBA4, CRYBB1 (S130T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424298	NC_000022.10:g.(?_26142492)_(27026451_?)del	ASPHD2, CRYBA4 +7 more	Deletion	Cataract 23	GUncertain significance
Select item 2416624	NM_001887.4(CRYBB1):c.512C>T (p.Ala171Val)	CRYBA4, CRYBB1 (A171V)	Single nucleotide variant (missense variant)	Cataract 17 multiple types	GUncertain significance
Select item 2414161	NM_001886.3(CRYBA4):c.159-21_159-20inv	CRYBA4	Inversion (intron variant)	Cataract 23	GLikely benign
Select item 2377228	NM_001886.3(CRYBA4):c.89C>T (p.Thr30Met)	CRYBA4 (T30M)	Single nucleotide variant (missense variant)	Cataract 23 +1 more	GConflicting classifications of pathogenicity
Select item 2371567	NM_001886.3(CRYBA4):c.85T>A (p.Phe29Ile)	CRYBA4 (F29I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368506	NM_001887.4(CRYBB1):c.29C>G (p.Ser10Trp)	CRYBA4, CRYBB1 (S10W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336526	NM_001887.4(CRYBB1):c.116T>A (p.Leu39Gln)	CRYBA4, CRYBB1 (L39Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315585	NM_001887.4(CRYBB1):c.450A>T (p.Lys150Asn)	CRYBA4, CRYBB1 (K150N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253428	NM_001887.4(CRYBB1):c.251C>A (p.Ala84Glu)	CRYBA4, CRYBB1 (A84E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2191216	NM_001887.4(CRYBB1):c.300C>T (p.Pro100=)	CRYBA4, CRYBB1	Single nucleotide variant (synonymous variant)	Cataract 17 multiple types	GUncertain significance
Select item 2189716	NM_001887.4(CRYBB1):c.753dup (p.Lys252fs)	CRYBA4, CRYBB1 (K252fs)	Duplication (frameshift variant)	Cataract 17 multiple types	GUncertain significance
Select item 2169242	NM_001886.3(CRYBA4):c.318G>A (p.Arg106=)	CRYBA4	Single nucleotide variant (synonymous variant)	Cataract 23	GLikely benign
Select item 2154537	NM_001887.4(CRYBB1):c.640C>T (p.Arg214Trp)	CRYBA4, CRYBB1 (R214W)	Single nucleotide variant (missense variant)	Cataract 17 multiple types	GUncertain significance
Select item 2118150	NM_001887.4(CRYBB1):c.305T>C (p.Val102Ala)	CRYBA4, CRYBB1 (V102A)	Single nucleotide variant (missense variant)	Cataract 17 multiple types	GUncertain significance
Select item 2079033	NM_001886.3(CRYBA4):c.40-11T>C	CRYBA4	Single nucleotide variant (intron variant)	Cataract 23	GLikely benign
Select item 2077967	NM_001886.3(CRYBA4):c.540C>A (p.Gly180=)	CRYBA4	Single nucleotide variant (synonymous variant)	Cataract 23	GLikely benign
Select item 2040983	NM_001886.3(CRYBA4):c.34T>A (p.Trp12Arg)	CRYBA4 (W12R)	Single nucleotide variant (missense variant)	Cataract 23	GUncertain significance
Select item 2020622	NM_001886.3(CRYBA4):c.169T>A (p.Phe57Ile)	CRYBA4 (F57I)	Single nucleotide variant (missense variant)	Cataract 23	GUncertain significance
Select item 2013236	NM_001886.3(CRYBA4):c.442G>T (p.Ala148Ser)	CRYBA4 (A148S)	Single nucleotide variant (missense variant)	Cataract 23	GUncertain significance
Select item 1994922	NM_001886.3(CRYBA4):c.108G>A (p.Val36=)	CRYBA4	Single nucleotide variant (synonymous variant)	Cataract 23	GLikely benign
Select item 1899847	NM_001887.4(CRYBB1):c.697C>T (p.Arg233Cys)	CRYBA4, CRYBB1 (R233C)	Single nucleotide variant (missense variant)	Cataract 17 multiple types +1 more	GUncertain significance
Select item 1879550	NM_001887.4(CRYBB1):c.683C>A (p.Ser228Tyr)	CRYBA4, CRYBB1 (S228Y)	Single nucleotide variant (missense variant)	Cataract 17 multiple types +1 more	GLikely pathogenic
Select item 1807757	GRCh37/hg19 22q12.1-12.2(chr22:26614429-29847680)x1	AP1B1, ASPHD2 +25 more	Copy number loss	not provided	GPathogenic
Select item 1803099	NM_001887.4(CRYBB1):c.607G>A (p.Gly203Arg)	CRYBA4, CRYBB1 (G203R)	Single nucleotide variant (missense variant)	Cataract 17 multiple types	GUncertain significance
Select item 1801467	NM_001887.4(CRYBB1):c.575+231_575+232insAGAGCCTTACCGAGTCTTATGTCCTACTGACCTTGGAAAACGTCCGAACTGTTTCCCCCCCTCTGATTCTCGTTTGCTCGACGCACCTAGAATACAGGTGACCCGTACGGGAGGTGGGATGGAGTCTGTGTGTCCGACTGTATCCCGTTGGTGAGACGGGTTGTCCCTGAACCTGATAGGGACAAAATATACCTCAGTGATTCCCGGGTCTCTGTTGGTGTCTCCCTGTCCTTGTCCGTCACAATTCGTAACCACTAGTAATTCTCGAAGTCAATCCTTACTTGATGTTAGTTAGAACTCAAGCTTAGTACGACACGGTGAATGGTTTATCCACA	CRYBA4, CRYBB1	Insertion (intron variant)	Schizophrenia	GUncertain significance
Select item 1801179	NM_001886.3(CRYBA4):c.284G>A (p.Arg95Gln)	CRYBA4 (R95Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707235	NM_001887.4(CRYBB1):c.432+112C>A	CRYBA4, CRYBB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1679950	NM_001887.4(CRYBB1):c.419G>C (p.Arg140Pro)	CRYBB1, CRYBA4 (R140P)	Single nucleotide variant (missense variant)	Cataract 17 multiple types	GLikely pathogenic
Select item 1559028	NM_001887.4(CRYBB1):c.510C>T (p.Asp170=)	CRYBA4, CRYBB1	Single nucleotide variant (synonymous variant)	Cataract 17 multiple types	GLikely benign
Select item 1531127	NM_001887.4(CRYBB1):c.717C>T (p.Leu239=)	CRYBA4, CRYBB1	Single nucleotide variant (synonymous variant)	Cataract 17 multiple types	GLikely benign
Select item 1477377	NM_001886.3(CRYBA4):c.148del (p.Val49_Leu50insTer)	CRYBA4	Deletion (nonsense)	CRYBA4-related disorder +1 more	GUncertain significance
Select item 1450099	NM_001887.4(CRYBB1):c.394C>T (p.Arg132Cys)	CRYBA4, CRYBB1 (R132C)	Single nucleotide variant (missense variant)	Cataract 17 multiple types	GUncertain significance
Select item 1399289	NM_001886.3(CRYBA4):c.300+2T>C	CRYBA4	Single nucleotide variant (splice donor variant)	Cataract 23	GUncertain significance
Select item 1385307	NM_001887.4(CRYBB1):c.325T>C (p.Phe109Leu)	CRYBA4, CRYBB1 (F109L)	Single nucleotide variant (missense variant)	Cataract 17 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 1372249	NM_001887.4(CRYBB1):c.358G>A (p.Glu120Lys)	CRYBA4, CRYBB1 (E120K)	Single nucleotide variant (missense variant)	Cataract 17 multiple types	GUncertain significance
Select item 1343240	NM_001886.3(CRYBA4):c.277T>C (p.Ser93Pro)	CRYBA4 (S93P)	Single nucleotide variant (missense variant)	Cataract 23	GLikely pathogenic
Select item 1328690	NM_001886.3(CRYBA4):c.325A>G (p.Ile109Val)	CRYBA4 (I109V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321512	NM_001887.4(CRYBB1):c.399T>C (p.Ser133=)	CRYBA4, CRYBB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1313722	NM_001886.3(CRYBA4):c.521A>G (p.Lys174Arg)	CRYBA4 (K174R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310374	NM_001887.4(CRYBB1):c.307G>C (p.Ala103Pro)	CRYBA4, CRYBB1 (A103P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301630	NM_001887.4(CRYBB1):c.155C>A (p.Ala52Glu)	CRYBA4, CRYBB1 (A52E)	Single nucleotide variant (missense variant)	Cataract 17 multiple types	GLikely benign
Select item 1290662	NM_001887.4(CRYBB1):c.432+328del	CRYBB1, CRYBA4	Deletion (intron variant)	not provided	GBenign
Select item 1283282	NM_001887.4(CRYBB1):c.299+16C>A	CRYBA4, CRYBB1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1283030	NM_001887.4(CRYBB1):c.300-104T>G	CRYBA4, CRYBB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281925	NM_001886.3(CRYBA4):c.39+166T>C	CRYBA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279558	NM_001887.4(CRYBB1):c.432+310_432+311dup	CRYBA4, CRYBB1	Duplication (intron variant)	not provided	GBenign
Select item 1273779	NM_001887.4(CRYBB1):c.575+113T>A	CRYBA4, CRYBB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257711	NM_001886.3(CRYBA4):c.158+182A>T	CRYBA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251289	NM_001887.4(CRYBB1):c.432+310dup	CRYBA4, CRYBB1	Duplication (intron variant)	not provided	GBenign
Select item 1250226	NM_001887.4(CRYBB1):c.300-315C>A	CRYBA4, CRYBB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245680	NM_001886.3(CRYBA4):c.300+295dup	CRYBA4	Duplication (intron variant)	not provided	GBenign
Select item 1239656	NM_001886.3(CRYBA4):c.158+58C>T	CRYBA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238656	NM_001886.3(CRYBA4):c.158+171C>T	CRYBA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236276	NM_001887.4(CRYBB1):c.300-313T>C	CRYBA4, CRYBB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235868	NM_001886.3(CRYBA4):c.159-36C>T	CRYBA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231985	NM_001886.3(CRYBA4):c.159-87C>T	CRYBA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224290	NM_001887.4(CRYBB1):c.-19-171G>A	CRYBA4, CRYBB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221976	NM_001886.3(CRYBA4):c.300+295del	CRYBA4	Deletion (intron variant)	not provided	GBenign
Select item 1221696	NM_001886.3(CRYBA4):c.40-44G>A	CRYBA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218276	NM_001886.3(CRYBA4):c.-12-40G>A	CRYBA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214797	NM_001886.3(CRYBA4):c.444-64C>G	CRYBA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213387	NM_001887.4(CRYBB1):c.-19-73C>G	CRYBA4, CRYBB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190622	NM_001886.3(CRYBA4):c.300+271G>A	CRYBA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188177	NC_000022.11:g.26630711G>A	CRYBA4	Single nucleotide variant	not provided	GLikely benign
Select item 1187883	NM_001887.4(CRYBB1):c.432+327_432+328del	CRYBA4, CRYBB1	Deletion (intron variant)	not provided	GLikely benign
Select item 1186349	NM_001886.3(CRYBA4):c.158+198A>G	CRYBA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181728	NM_001886.3(CRYBA4):c.40-156G>A	CRYBA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1176010	NM_001887.4(CRYBB1):c.211G>A (p.Gly71Ser)	CRYBA4, CRYBB1 (G71S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1152829	NM_001887.4(CRYBB1):c.507C>T (p.Asp169=)	CRYBA4, CRYBB1	Single nucleotide variant (synonymous variant)	Cataract 17 multiple types	GLikely benign

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