ClinVar for MedGen (Select 473013) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024129	NM_000398.7(CYB5R3):c.906A>G (p.Ter302Trp)	CYB5R3	Single nucleotide variant (stop lost)	Hereditary methemoglobinemia	GUncertain significance
Select item 505719	NM_000398.7(CYB5R3):c.757G>A (p.Val253Met)	CYB5R3 (V253M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 249	NM_000398.7(CYB5R3):c.611G>A (p.Cys204Tyr)	CYB5R3 (C204Y +2 more)	Single nucleotide variant (missense variant)	Hereditary methemoglobinemia +1 more	GPathogenic

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