3119[geneid] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 147158	GRCh38/hg38 6p21.32(chr6:32482945-32669311)x3	HLA-DQA1, HLA-DQB1 +4 more	Copy number gain	See cases	GBenign
Select item 149456	GRCh38/hg38 6p21.32(chr6:32529565-32721089)x3	HLA-DQA1, HLA-DQB1 +7 more	Copy number gain	See cases	GLikely benign
Select item 3256932	NM_002123.5(HLA-DQB1):c.370_379+2del	HLA-DQB1	Deletion (splice donor variant)	Susceptibility to severe COVID-19	GLikely pathogenic
Select item 2656472	NM_002123.5(HLA-DQB1):c.319T>C (p.Leu107=)	HLA-DQB1 (V107L)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656473	NM_002123.5(HLA-DQB1):c.84A>C (p.Leu28=)	HLA-DQB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656475	NM_002123.5(HLA-DQB1):c.80_81insTT (p.Leu28fs)	HLA-DQB1 (L28fs +1 more)	Insertion (frameshift variant)	not provided	GBenign
Select item 2656474	NM_002123.5(HLA-DQB1):c.81C>T (p.Ser27=)	HLA-DQB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
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)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +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