ClinVar for Gene (Select 3117) - ClinVar - NCBI

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2656471	NM_002122.5(HLA-DQA1):c.366C>T (p.Pro122=)	HLA-DQA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656470	NM_002122.5(HLA-DQA1):c.82+1445T>G	HLA-DQA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2656469	NM_002122.5(HLA-DQA1):c.82+1409A>G	HLA-DQA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2656468	NM_002122.5(HLA-DQA1):c.82+1404G>C	HLA-DQA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ANKS1A, FKBP5 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 1258533	NM_002122.5(HLA-DQA1):c.101G>A (p.Cys34Tyr)	HLA-DQA1 (C34Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1257290	NM_002122.5(HLA-DQA1):c.122T>C (p.Phe41Ser)	HLA-DQA1 (F41S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 221365	chr6:32609097-32629809 complex variant	HLA-DQA1, HLA-DQB1	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221340	Single allele	BTNL2, HLA-DQA1 +6 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 149456	GRCh38/hg38 6p21.32(chr6:32529565-32721089)x3	HLA-DQA1, HLA-DQB1 +6 more	Copy number gain	See cases	GLikely benign
Select item 147158	GRCh38/hg38 6p21.32(chr6:32482945-32669311)x3	HLA-DQA1, HLA-DQB1 +4 more	Copy number gain	See cases	GBenign