ClinVar for MedGen (Select 348876) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442218	NM_000324.3(RHAG):c.974A>G (p.His325Arg)	RHAG (H325R)	Single nucleotide variant (missense variant)	Overhydrated hereditary stomatocytosis	GUncertain significance
Select item 438647	NM_000324.3(RHAG):c.1007T>C (p.Leu336Ser)	RHAG (L336S)	Single nucleotide variant (missense variant)	Overhydrated hereditary stomatocytosis	GUncertain significance
Select item 438646	NM_000324.3(RHAG):c.447T>G (p.Ile149Met)	RHAG (I149M)	Single nucleotide variant (missense variant)	Overhydrated hereditary stomatocytosis	GPathogenic
Select item 225454	NM_000324.3(RHAG):c.808G>A (p.Val270Ile)	RHAG (V270I)	Single nucleotide variant (missense variant)	Rh-null, regulator type +2 more	GBenign/Likely benign
Select item 218296	NM_000324.3(RHAG):c.182T>G (p.Ile61Arg)	RHAG (I61R)	Single nucleotide variant (missense variant)	Overhydrated hereditary stomatocytosis	GPathogenic
Select item 218295	NM_000324.3(RHAG):c.194T>C (p.Phe65Ser)	RHAG (F65S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 13065	NM_000324.2(RHAG):c.[808G>A;838G>A]	RHAG (V270I +1 more)	Single nucleotide variant (missense variant)	Rh-null, regulator type	GPathogenic
Select item 13060	NM_000324.3(RHAG):c.836G>A (p.Gly279Glu)	RHAG (G279E)	Single nucleotide variant (missense variant)	Overhydrated hereditary stomatocytosis	GLikely pathogenic

ClinVar