LOC130067128[gene] - ClinVar

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Items: 22

	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 148675	GRCh38/hg38 22q11.23-12.1(chr22:24972072-26101385)x3	CRYBB2, CRYBB3 +35 more	Copy number gain	See cases	GLikely benign
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 147634	GRCh38/hg38 22q11.23(chr22:25263205-25490840)x1	LOC130067129, LOC130067130 +10 more	Copy number loss	See cases	GBenign
Select item 146655	GRCh38/hg38 22q11.23(chr22:25268651-25496286)x3	LOC105372969, LOC106780824 +10 more	Copy number gain	See cases	GBenign
Select item 147157	GRCh38/hg38 22q11.23-12.1(chr22:25268679-25507547)x1	LOC105372969, LOC106780824 +10 more	Copy number loss	See cases	GBenign
Select item 149429	GRCh38/hg38 22q11.23-12.1(chr22:25268683-25507780)x3	LOC105372969, LOC106780824 +10 more	Copy number gain	See cases	GLikely benign
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 149347	GRCh38/hg38 22q11.23-12.1(chr22:25299501-25507844)x1	LOC106780824, LOC125424402 +9 more	Copy number loss	See cases	GLikely benign
Select item 149346	GRCh38/hg38 22q11.23-12.1(chr22:25299501-25507844)x3	LOC106780824, LOC125424402 +9 more	Copy number gain	See cases	GBenign/Likely benign
Select item 160998	GRCh38/hg38 22q11.23-12.1(chr22:25299502-25507576)x1	LOC106780824, LOC125424402 +9 more	Copy number loss	See cases	GBenign
Select item 146190	GRCh38/hg38 22q11.23-12.1(chr22:25299502-25507576)x3	LOC106780824, LOC125424402 +9 more	Copy number gain	See cases	GBenign
Select item 57178	GRCh38/hg38 22q11.23-12.1(chr22:25299502-25507576)x1	LOC106780824, LOC125424402 +9 more	Copy number loss	See cases	GBenign
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 147255	GRCh38/hg38 22q11.23(chr22:25330413-25403585)x3	LOC130067127, LOC130067128 +2 more	Copy number gain	See cases	GBenign
Select item 221771	GRCh38/hg38 22q11.23-12.1(chr22:25336730-25514912)x1	LOC106780824, LOC125424402 +9 more	Copy number loss	Premature ovarian failure	GBenign
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

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Items: 22