ClinVar for MedGen (Select 489898) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2920936	NM_001724.5(BPGM):c.62G>A (p.Arg21His)	BPGM (R21H)	Single nucleotide variant (missense variant)	Deficiency of bisphosphoglycerate mutase	GUncertain significance
Select item 2439542	NM_001724.5(BPGM):c.461G>A (p.Arg154Gln)	BPGM (R154Q)	Single nucleotide variant (missense variant)	Deficiency of bisphosphoglycerate mutase	GUncertain significance
Select item 973178	NM_001724.5(BPGM):c.269G>A (p.Arg90His)	BPGM (R90H)	Single nucleotide variant (missense variant)	Deficiency of bisphosphoglycerate mutase	GPathogenic
Select item 973177	NM_001724.5(BPGM):c.185G>A (p.Arg62Gln)	BPGM (R62Q)	Single nucleotide variant (missense variant)	Deficiency of bisphosphoglycerate mutase	GPathogenic
Select item 12092	NM_001724.5(BPGM):c.61del (p.Arg21fs)	BPGM (R21fs)	Deletion (frameshift variant)	Deficiency of bisphosphoglycerate mutase	GPathogenic
Select item 12091	NM_001724.5(BPGM):c.268C>T (p.Arg90Cys)	BPGM (R90C)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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