Related gene-specific medical variations for Gene (Select 55027) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377775	NM_182922.4(HEATR3):c.239C>T (p.Ala80Val)	HEATR3, LOC130058980 (A80V)	Single nucleotide variant (5 prime UTR variant +2 more)	Diamond-Blackfan anemia 21	GUncertain significance
Select item 3283775	NM_182922.4(HEATR3):c.292A>G (p.Thr98Ala)	HEATR3, LOC130058980 (T98A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3104787	NM_182922.4(HEATR3):c.47C>T (p.Pro16Leu)	HEATR3, HEATR3-AS1 (P16L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2590568	NM_182922.4(HEATR3):c.119C>G (p.Ala40Gly)	HEATR3, HEATR3-AS1 (A40G)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2394207	NM_182922.4(HEATR3):c.245G>A (p.Arg82His)	HEATR3, LOC130058980 (R82H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2381631	NM_182922.4(HEATR3):c.227C>T (p.Ala76Val)	HEATR3, LOC130058980 (A76V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2327837	NM_182922.4(HEATR3):c.39G>C (p.Gln13His)	HEATR3, HEATR3-AS1 (Q13H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2316434	NM_182922.4(HEATR3):c.248G>C (p.Arg83Pro)	HEATR3, LOC130058980 (R83P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance