ClinVar for MedGen (Select 340309) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671850	NM_000324.3(RHAG):c.544G>A (p.Gly182Ser)	RHAG	Single nucleotide variant (missense variant)	Rh-null, regulator type	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 13066	NM_000324.3(RHAG):c.1139G>T (p.Gly380Val)	RHAG (G380V)	Single nucleotide variant (missense variant)	Rh-null, regulator type	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 13064	NM_000324.3(RHAG):c.1067+1G>A	RHAG	Single nucleotide variant (splice donor variant)	Rh deficiency syndrome	GPathogenic
Select item 13062	NM_000324.3(RHAG):c.946-1G>A	RHAG	Single nucleotide variant (splice acceptor variant)	Rh-null, regulator type	GPathogenic
Select item 13061	NM_000324.3(RHAG):c.157+1G>A	RHAG	Single nucleotide variant (splice donor variant)	RHAG-related disorder	GPathogenic
Select item 13060	NM_000324.3(RHAG):c.836G>A (p.Gly279Glu)	RHAG (G279E)	Single nucleotide variant (missense variant)	Rh-null, regulator type	GPathogenic
Select item 13058	NM_000324.3(RHAG):c.1086del (p.Ala363fs)	RHAG (A363fs)	Deletion (frameshift variant)	Rh-null, regulator type	GPathogenic
Select item 13057	NM_000324.3(RHAG):c.154_157delinsGA (p.Pro52fs)	RHAG (P52fs)	Indel (frameshift variant)	Rh-null, regulator type	GPathogenic