1413[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 145620	GRCh38/hg38 22q11.23-12.1(chr22:25003092-28634004)x1	LOC130067151, LOC130067152 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 147324	GRCh38/hg38 22q12.1(chr22:25685148-28217405)x1	ASPHD2, CPMER +85 more	Copy number loss	See cases	GUncertain significance
Select item 59072	GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1	AP1B1, ASPHD2 +122 more	Copy number loss	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	See cases	GPathogenic
Select item 151022	GRCh38/hg38 22q12.1(chr22:26535859-27296063)x1	CRYBA4, CRYBB1 +34 more	Copy number loss	See cases	GUncertain significance
Select item 341041	NM_001887.4(CRYBB1):c.*67C>G	CRYBA4, CRYBB1	Single nucleotide variant (3 prime UTR variant)	Cataract 17 multiple types	GUncertain significance
Select item 427748	NM_001887.4(CRYBB1):c.757T>C (p.Ter253Arg)	CRYBA4, CRYBB1	Single nucleotide variant (stop lost)	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 341042	NM_001887.4(CRYBB1):c.744A>G (p.Thr248=)	CRYBA4, CRYBB1	Single nucleotide variant (synonymous variant)	Cataract 17 multiple types +1 more	GConflicting classifications of pathogenicity
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 639940	NM_001887.4(CRYBB1):c.712dup (p.His238fs)	CRYBA4, CRYBB1 (H238fs)	Duplication (frameshift variant)	Cataract 17 multiple types	GUncertain significance
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 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 981118	NM_001887.4(CRYBB1):c.692G>A (p.Arg231His)	CRYBA4, CRYBB1 (R231H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 901235	NM_001887.4(CRYBB1):c.688C>A (p.Arg230Ser)	CRYBA4, CRYBB1 (R230S)	Single nucleotide variant (missense variant)	Cataract 17 multiple types	GUncertain significance
Select item 1879550	NM_001887.4(CRYBB1):c.683C>A (p.Ser228Tyr)	CRYBA4, CRYBB1 (S228Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 8687	NM_001887.4(CRYBB1):c.658G>T (p.Gly220Ter)	CRYBA4, CRYBB1 (G220*)	Single nucleotide variant (nonsense)	Cataract 17 multiple types	GPathogenic
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 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 574493	NM_001887.4(CRYBB1):c.585del (p.Tyr196fs)	CRYBA4, CRYBB1 (Y196fs)	Deletion (frameshift variant)	Cataract 17 multiple types	GPathogenic
Select item 341043	NM_001887.4(CRYBB1):c.576-3C>A	CRYBA4, CRYBB1	Single nucleotide variant (intron 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 1273779	NM_001887.4(CRYBB1):c.575+113T>A	CRYBA4, CRYBB1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 1559028	NM_001887.4(CRYBB1):c.510C>T (p.Asp170=)	CRYBB1, CRYBA4	Single nucleotide variant (synonymous variant)	CRYBB1-related condition +1 more	GLikely benign
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 1152829	NM_001887.4(CRYBB1):c.507C>T (p.Asp169=)	CRYBA4, CRYBB1	Single nucleotide variant (synonymous variant)	Cataract 17 multiple types	GLikely benign
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 341044	NM_001887.4(CRYBB1):c.448A>G (p.Lys150Glu)	CRYBA4, CRYBB1 (K150E)	Single nucleotide variant (missense variant)	Cataract 17 multiple types	GUncertain significance
Select item 1279558	NM_001887.4(CRYBB1):c.432+310_432+311dup	CRYBA4, CRYBB1	Duplication (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 1290662	NM_001887.4(CRYBB1):c.432+328del	CRYBB1, CRYBA4	Deletion (intron variant)	not provided	GBenign
Select item 1187883	NM_001887.4(CRYBB1):c.432+327_432+328del	CRYBA4, CRYBB1	Deletion (intron variant)	not provided	GLikely benign
Select item 1707235	NM_001887.4(CRYBB1):c.432+112C>A	CRYBA4, CRYBB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 901236	NM_001887.4(CRYBB1):c.432+15G>A	CRYBA4, CRYBB1	Single nucleotide variant (intron variant)	Cataract 17 multiple types	GBenign/Likely benign
Select item 468743	NM_001887.4(CRYBB1):c.432+5G>C	CRYBA4, CRYBB1	Single nucleotide variant (intron variant)	Cataract 17 multiple types	GUncertain significance
Select item 341045	NM_001887.4(CRYBB1):c.427A>G (p.Lys143Glu)	CRYBA4, CRYBB1 (K143E)	Single nucleotide variant (missense variant)	Cataract 17 multiple types	GUncertain significance
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 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 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 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 341046	NM_001887.4(CRYBB1):c.394C>G (p.Arg132Gly)	CRYBA4, CRYBB1 (R132G)	Single nucleotide variant (missense variant)	Cataract 17 multiple types	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 427749	NM_001887.4(CRYBB1):c.387C>A (p.Ser129Arg)	CRYBA4, CRYBB1 (S129R)	Single nucleotide variant (missense variant)	Cataract 17 multiple types	GPathogenic
Select item 341047	NM_001887.4(CRYBB1):c.384G>A (p.Ser128=)	CRYBA4, CRYBB1	Single nucleotide variant (synonymous variant)	Cataract 17 multiple types	GConflicting classifications of pathogenicity
Select item 217329	NM_001887.4(CRYBB1):c.368G>A (p.Arg123His)	CRYBA4, CRYBB1 (R123H)	Single nucleotide variant (missense variant)	Developmental cataract	GLikely pathogenic
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 901775	NM_001887.4(CRYBB1):c.357C>T (p.Gly119=)	CRYBA4, CRYBB1	Single nucleotide variant (synonymous variant)	Cataract 17 multiple types	GUncertain significance
Select item 468742	NM_001887.4(CRYBB1):c.328C>T (p.Arg110Cys)	CRYBA4, CRYBB1 (R110C)	Single nucleotide variant (missense variant)	Cataract 17 multiple types +1 more	GBenign
Select item 1385307	NM_001887.4(CRYBB1):c.325T>C (p.Phe109Leu)	CRYBA4, CRYBB1 (F109L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 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 901776	NM_001887.4(CRYBB1):c.300-9T>G	CRYBA4, CRYBB1	Single nucleotide variant (intron variant)	Cataract 17 multiple types	GUncertain significance
Select item 1283030	NM_001887.4(CRYBB1):c.300-104T>G	CRYBA4, CRYBB1	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 1250226	NM_001887.4(CRYBB1):c.300-315C>A	CRYBA4, CRYBB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283282	NM_001887.4(CRYBB1):c.299+16C>A	CRYBA4, CRYBB1	Single nucleotide variant (intron variant)	Cataract 17 multiple types +1 more	GBenign
Select item 901777	NM_001887.4(CRYBB1):c.294G>A (p.Ala98=)	CRYBB1, CRYBA4	Single nucleotide variant (synonymous variant)	CRYBB1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 901778	NM_001887.4(CRYBB1):c.293C>A (p.Ala98Glu)	CRYBA4, CRYBB1 (A98E)	Single nucleotide variant (missense variant)	Cataract 17 multiple types +1 more	GUncertain significance
Select item 902685	NM_001887.4(CRYBB1):c.292G>A (p.Ala98Thr)	CRYBA4, CRYBB1 (A98T)	Single nucleotide variant (missense variant)	Cataract 17 multiple types	GUncertain significance
Select item 902686	NM_001887.4(CRYBB1):c.282C>T (p.Ile94=)	CRYBA4, CRYBB1	Single nucleotide variant (synonymous variant)	Cataract 17 multiple types	GUncertain significance
Select item 1065594	NM_001887.4(CRYBB1):c.281T>A (p.Ile94Asn)	CRYBA4, CRYBB1 (I94N)	Single nucleotide variant (missense variant)	Developmental cataract	GUncertain significance
Select item 341048	NM_001887.4(CRYBB1):c.275G>A (p.Arg92His)	CRYBA4, CRYBB1 (R92H)	Single nucleotide variant (missense variant)	Cataract 17 multiple types	GUncertain significance
Select item 902687	NM_001887.4(CRYBB1):c.274C>T (p.Arg92Cys)	CRYBA4, CRYBB1 (R92C)	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 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 581088	NM_001887.4(CRYBB1):c.234G>T (p.Gly78=)	CRYBA4, CRYBB1	Single nucleotide variant (synonymous variant)	Cataract 17 multiple types	GUncertain significance
Select item 631889	NM_001887.4(CRYBB1):c.217C>T (p.Arg73Ter)	CRYBA4, CRYBB1 (R73*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
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 798218	NM_001887.4(CRYBB1):c.179G>C (p.Arg60Thr)	CRYBA4, CRYBB1 (R60T)	Single nucleotide variant (missense variant)	Cataract 17 multiple types	GConflicting classifications of pathogenicity
Select item 419532	NM_001887.4(CRYBB1):c.171del (p.Asn58fs)	CRYBA4, CRYBB1 (N58fs)	Deletion (frameshift variant)	Cataract 17 +2 more	GPathogenic/Likely pathogenic
Select item 341049	NM_001887.4(CRYBB1):c.156G>A (p.Ala52=)	CRYBA4, CRYBB1	Single nucleotide variant (synonymous variant)	Cataract 17 multiple types	GConflicting classifications of pathogenicity
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 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 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 757486	NM_001887.4(CRYBB1):c.84T>G (p.Pro28=)	CRYBA4, CRYBB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 902688	NM_001887.4(CRYBB1):c.74G>A (p.Gly25Glu)	CRYBA4, CRYBB1 (G25E)	Single nucleotide variant (missense variant)	CRYBB1-related condition +1 more	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 902689	NM_001887.4(CRYBB1):c.63C>A (p.Thr21=)	CRYBA4, CRYBB1	Single nucleotide variant (synonymous variant)	Cataract 17 multiple types	GUncertain significance
Select item 341050	NM_001887.4(CRYBB1):c.37G>A (p.Val13Met)	CRYBA4, CRYBB1 (V13M)	Single nucleotide variant (missense variant)	Cataract 17 multiple types	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 900138	NM_001887.4(CRYBB1):c.13G>A (p.Ala5Thr)	CRYBA4, CRYBB1 (A5T)	Single nucleotide variant (missense variant)	Cataract 17 multiple types	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 341051	NM_001887.4(CRYBB1):c.-6G>A	CRYBA4, CRYBB1	Single nucleotide variant (5 prime UTR variant)	Cataract 17 multiple types	GUncertain significance
Select item 341052	NM_001887.4(CRYBB1):c.-7G>A	CRYBA4, CRYBB1	Single nucleotide variant (5 prime UTR variant)	CRYBB1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1213387	NM_001887.4(CRYBB1):c.-19-73C>G	CRYBA4, CRYBB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224290	NM_001887.4(CRYBB1):c.-19-171G>A	CRYBA4, CRYBB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 341053	NM_001887.4(CRYBB1):c.-58C>T	CRYBA4, CRYBB1	Single nucleotide variant (5 prime UTR variant)	Cataract 17 multiple types	GUncertain significance
Select item 1218276	NM_001886.3(CRYBA4):c.-12-40G>A	CRYBA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1027167	NM_001886.3(CRYBA4):c.26C>T (p.Ala9Val)	CRYBA4 (A9V)	Single nucleotide variant (missense variant)	Cataract 23	GUncertain significance
Select item 2697293	NM_001886.3(CRYBA4):c.27G>A (p.Ala9=)	CRYBA4	Single nucleotide variant (synonymous variant)	Cataract 23	GLikely benign
Select item 3077708	NM_001886.3(CRYBA4):c.31C>A (p.Pro11Thr)	CRYBA4 (P11T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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