HLA-DPA1[gene] - ClinVar - NCBI

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Items: 15

	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 779334	NM_033554.4(HLA-DPA1):c.662C>T (p.Thr221Met)	HLA-DPA1 (T221M)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2656480	NM_033554.4(HLA-DPA1):c.177A>C (p.Glu59Asp)	HLA-DPA1 (E59D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 725736	NM_002121.6(HLA-DPB1):c.24G>A (p.Ala8=)	HLA-DPA1, HLA-DPB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 725737	NM_002121.6(HLA-DPB1):c.47C>T (p.Thr16Met)	HLA-DPA1, HLA-DPB1 (T16M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 709409	NM_002121.6(HLA-DPB1):c.81C>T (p.Val27=)	HLA-DPA1, HLA-DPB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 725738	NM_002121.6(HLA-DPB1):c.100+8C>T	HLA-DPA1, HLA-DPB1	Single nucleotide variant (intron variant)	not provided	GBenign
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 814809	GRCh37/hg19 6p21.32(chr6:32966991-33123282)x1	HLA-DPB1, HLA-DPA1 +1 more	Copy number loss	not provided	GLikely benign
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 624503	GRCh37/hg19 6p21.32(chr6:32988673-33111420)x1	HLA-DPA1, HLA-DPB1	Copy number loss	not provided	GLikely benign
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