ClinVar for MedGen (Select 1677) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1707607	NM_020469.3(ABO):c.28+5871C>A	ABO, LOC112679198	Single nucleotide variant (intron variant)	ABO blood group system	GAffects
Select item 1185562	NM_020469.3(ABO):c.[1061del;467C>T989T>C]	ABO (P354fs +3 more)	Deletion (frameshift variant +1 more)	ABO blood group system	GAffects
Select item 1185001	NM_020469.3(ABO):c.106dup (p.Val36fs)	ABO (V36fs)	Duplication (frameshift variant)	Severely weakened expression of A on erythrocytes +1 more	GBenign; Affects
Select item 1172913	NM_020469.3(ABO):c.29-4288A>G	ABO	Single nucleotide variant (intron variant)	ABO blood group system	Gassociation
Select item 1172912	NM_020469.3(ABO):c.28+748T>C	ABO	Single nucleotide variant (intron variant)	ABO blood group system	Gassociation
Select item 1172911	NM_020469.3(ABO):c.28+1179T>C	ABO	Single nucleotide variant (intron variant)	ABO blood group system	Gassociation
Select item 1172910	NM_020469.3(ABO):c.28+867_28+868delinsA	ABO	Indel (intron variant)	ABO blood group system	Gassociation
Select item 17739	NM_020469.3(ABO):c.700C>G (p.Pro234Ala)	ABO (P234A)	Single nucleotide variant (missense variant)	ABO blood group system	GAffects
Select item 17738	NM_020469.2(ABO):c.[467C>T;803G>C]	ABO (G268A +1 more)	Single nucleotide variant (missense variant)	ABO blood group system	Gassociation
Select item 17737	NM_020469.3(ABO):c.1061del (p.Pro354fs)	ABO (P354fs)	Deletion (frameshift variant)	ABO blood group system	GAffects
Select item 17736	ABO*B	ABO (G268A +3 more)	Single nucleotide variant (missense variant +1 more)	ABO blood group system	GAffects
Select item 17735	NM_020469.2(ABO):c.261delG (p.Thr88Profs)	ABO (T88fs)	Deletion (frameshift variant)	not provided	GBenign