ABO[gene] and "single gene"[properties] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17735	NM_020469.2(ABO):c.261delG (p.Thr88Profs)	ABO (T88fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 17737	NM_020469.3(ABO):c.1061del (p.Pro354fs)	ABO (P354fs)	Deletion (frameshift variant)	ABO blood group system	GAffects
Select item 1185570	NM_020469.3(ABO):c.989T>C (p.Leu330Pro)	ABO (L330P)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1696776	NM_020469.3(ABO):c.930G>A (p.Leu310=)	ABO	Single nucleotide variant (synonymous variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 3035085	NM_020469.3(ABO):c.826G>A (p.Glu276Lys)	ABO (E276K)	Single nucleotide variant (missense variant)	ABO-related disorder	GLikely benign
Select item 242740	NM_020469.3(ABO):c.803G>C (p.Gly268Ala)	ABO (G268A)	Single nucleotide variant (missense variant)	Three Vessel Coronary Disease	GBenign
Select item 1696777	NM_020469.3(ABO):c.796C>A (p.Leu266Met)	ABO (L266M)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 3035005	NM_020469.3(ABO):c.768C>T (p.Ile256=)	ABO	Single nucleotide variant (synonymous variant)	ABO-related disorder	GLikely benign
Select item 1696781	NM_020469.3(ABO):c.703G>A (p.Gly235Ser)	ABO (G235S)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
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 1696778	NM_020469.3(ABO):c.657C>T (p.His219=)	ABO	Single nucleotide variant (synonymous variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 812632	NM_020469.3(ABO):c.646T>A (p.Phe216Ile)	ABO (F216I)	Single nucleotide variant (missense variant)	Three Vessel Coronary Disease	GBenign
Select item 2659692	NM_020469.3(ABO):c.529G>A (p.Ala177Thr)	ABO (A177T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2573159	NM_020469.3(ABO):c.526= (p.Arg176=)	ABO	Variation (no sequence alteration)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1696779	NM_020469.3(ABO):c.526C>G (p.Arg176Gly)	ABO (R176G)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2573158	NM_020469.3(ABO):c.496del (p.Thr166fs)	ABO (T166fs)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 242769	NM_020469.2(ABO):c.467C>T (p.Pro156Leu)	ABO (P156L)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 812630	NM_020469.3(ABO):c.373+446A>G	ABO	Single nucleotide variant (intron variant)	Three Vessel Coronary Disease	GBenign
Select item 812631	NM_020469.3(ABO):c.373+163T>C	ABO	Single nucleotide variant (intron variant)	Three Vessel Coronary Disease	GBenign
Select item 2573156	NM_020469.3(ABO):c.297A>C (p.Thr99=)	ABO	Single nucleotide variant (synonymous variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1696780	NM_020469.3(ABO):c.297A>G (p.Thr99=)	ABO	Single nucleotide variant (synonymous variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 769757	NM_020469.3(ABO):c.220C>T (p.Pro74Ser)	ABO (P74S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 812633	NM_020469.3(ABO):c.203+102C>A	ABO	Single nucleotide variant (intron variant)	Three Vessel Coronary Disease	GBenign
Select item 768332	NM_020469.3(ABO):c.188= (p.Arg63=)	ABO	Variation (no sequence alteration)	not provided	GBenign
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 769758	NM_020469.3(ABO):c.106G>T (p.Val36Phe)	ABO (V36F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2573151	NM_020469.3(ABO):c.102C>A (p.Tyr34Ter)	ABO (Y34*)	Single nucleotide variant (nonsense)	Severely weakened expression of A on erythrocytes	GBenign
Select item 2573150	NM_020469.3(ABO):c.42C>A (p.Cys14Ter)	ABO (C14*)	Single nucleotide variant (nonsense)	Severely weakened expression of A on erythrocytes	GBenign
Select item 812626	NM_020469.3(ABO):c.29-75A>G	ABO	Single nucleotide variant (intron variant)	Three Vessel Coronary Disease	GUncertain significance
Select item 1172913	NM_020469.3(ABO):c.29-4288A>G	ABO	Single nucleotide variant (intron variant)	ABO blood group system	Gassociation
Select item 812627	NM_020469.3(ABO):c.29-4774=	ABO	Variation (intron variant)	Three Vessel Coronary Disease	GBenign
Select item 812629	NM_020469.3(ABO):c.28+1929G>C	ABO	Single nucleotide variant (intron variant)	Three Vessel Coronary Disease	GBenign
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 1172912	NM_020469.3(ABO):c.28+748T>C	ABO	Single nucleotide variant (intron variant)	ABO blood group system	Gassociation
Select item 2573157	NM_020469.3(ABO):c.15dup (p.Arg6fs)	ABO (R6fs)	Duplication (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2573155	NM_020469.3(ABO):c.1_5dup (p.Glu3fs)	ABO (E3fs)	Duplication (frameshift variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1185571	NM_020469.3(ABO):c.261dup (p.Thr88fs)	ABO (T88fs)	Duplication (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant

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Items: 38