Related gene-specific medical variations for Gene (Select 3123) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065325	NM_002124.4(HLA-DRB1):c.764-2A>G	HLA-DRB1	Single nucleotide variant (splice acceptor variant)	Multiple sclerosis, susceptibility to	GLikely pathogenic
Select item 3064715	NM_002125.4(HLA-DRB5):c.125_127delATG (p.Tyr42_Ser266del)	HLA-DRB1	Deletion (nonsense +1 more)	Multiple sclerosis, susceptibility to	GUncertain significance
Select item 1696856	NM_002124.4(HLA-DRB1):c.242A>T (p.Glu81Val)	HLA-DRB1 (E81V)	Single nucleotide variant (missense variant)	Pulmonary artery atresia	GPathogenic
Select item 691505	NM_002124.4(HLA-DRB1):c.307G>C (p.Ala103Pro)	HLA-DRB1 (A103P +1 more)	Single nucleotide variant (no sequence alteration +1 more)	Peritoneal Gliomatosis	GUncertain significance
Select item 29757	HLA-DRB1, DRB1*1501	HLA-DRB1	Variation	Multiple sclerosis, susceptibility to 1	Grisk factor
Select item 14905	HLA-DRB1, HLA-DRB1*1101	HLA-DRB1	Variation	Sarcoidosis, susceptibility to, 1	Grisk factor

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