ClinVar for Gene (Select 3122) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 789589	NM_019111.5(HLA-DRA):c.611-7C>T	HLA-DRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 743767	NM_019111.5(HLA-DRA):c.129A>G (p.Gln43=)	HLA-DRA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686165	GRCh37/hg19 6p21.33-21.32(chr6:32027371-32448599)x3	AGER, AGPAT1 +13 more	Copy number gain	not provided	GUncertain significance
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 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	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 146974	GRCh38/hg38 6p21.32(chr6:32444210-32584357)x3	HLA-DRA, HLA-DRB1 +2 more	Copy number gain	See cases	GBenign