ClinVar for Gene (Select 157) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2684935	GRCh37/hg19 22q11.23-12.1(chr22:25470079-26116077)x3	CRYBB2, CRYBB3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2341663	NM_005160.4(GRK3):c.883C>T (p.Arg295Trp)	GRK3 (R182W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288147	NM_005160.4(GRK3):c.335A>G (p.Tyr112Cys)	GRK3 (Y112C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2259810	NM_005160.4(GRK3):c.919C>T (p.His307Tyr)	GRK3 (H307Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226138	NM_005160.4(GRK3):c.161C>G (p.Thr54Ser)	GRK3 (T54S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1439201	NC_000022.10:g.(?_25597364)_(26272319_?)dup	CRYBB2, CRYBB3 +2 more	Duplication	not provided	GUncertain significance
Select item 1341202	GRCh37/hg19 22q11.23-12.1(chr22:25656237-26003361)x3	GRK3	Copy number gain	not provided	GLikely benign
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 981206	GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3	RTN4R, SCARF2 +124 more	Copy number gain	Cat eye syndrome +1 more	GPathogenic
Select item 816492	GRCh37/hg19 22q11.23-12.1(chr22:24311474-26075188)x3	GGT1, DDT +19 more	Copy number gain	See cases	GUncertain significance
Select item 816214	GRCh37/hg19 22q11.23-12.1(chr22:25656220-26120408)x4	GRK3	Copy number gain	not provided	GLikely benign
Select item 816197	GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3	HIC2, HIRA +133 more	Copy number gain	not provided	GPathogenic
Select item 734686	NM_005160.4(GRK3):c.931C>A (p.Arg311=)	GRK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 564985	GRCh37/hg19 22q12.1(chr22:25974731-26175662)x1	MYO18B, GRK3	Copy number loss	not provided	GUncertain significance
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441055	GRCh37/hg19 22q11.23-12.1(chr22:24652837-25970705)x3	ADORA2A, CRYBB2 +12 more	Copy number gain	not provided	Gnot provided
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253473	GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3	ADA2, ADORA2A +135 more	Copy number gain	See cases	GPathogenic
Select item 157474	Single allele	GRK3	Duplication	Large for gestational age	Gnot provided
Select item 150064	GRCh38/hg38 22q11.23-12.1(chr22:25299501-25571001)x1	GRK3, GRK3-AS1 +14 more	Copy number loss	See cases	GLikely benign
Select item 150063	GRCh38/hg38 22q11.23-12.1(chr22:25299501-25571001)x3	GRK3, GRK3-AS1 +14 more	Copy number gain	See cases	GLikely benign
Select item 149602	GRCh38/hg38 22q11.23-12.1(chr22:25309341-25596855)x3	GRK3, GRK3-AS1 +14 more	Copy number gain	See cases	GLikely benign
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 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 148747	GRCh38/hg38 22q11.23-12.1(chr22:25372487-25596759)x1	GRK3, GRK3-AS1 +14 more	Copy number loss	See cases	GLikely benign
Select item 148675	GRCh38/hg38 22q11.23-12.1(chr22:24972072-26101385)x3	CRYBB2, CRYBB3 +35 more	Copy number gain	See cases	GLikely benign
Select item 147324	GRCh38/hg38 22q12.1(chr22:25685148-28217405)x1	ASPHD2, CPMER +85 more	Copy number loss	See cases	GUncertain significance
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 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145109	GRCh38/hg38 22q12.1(chr22:25574679-25712434)x3	GRK3, LOC126863103 +3 more	Copy number gain	See cases	GBenign
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 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 38