C1970028[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 15292	NM_000518.4(HBB):c.364G>A (p.Glu122Lys)	HBB, LOC107133510 +1 more (E122K)	Single nucleotide variant (missense variant)	Sickle cell-Hemoglobin O Arab disease +11 more	GPathogenic/Likely pathogenic
Select item 21191	NM_000518.5(HBB):c.316-2A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (splice acceptor variant)	beta Thalassemia +10 more	GPathogenic
Select item 15457	NM_000518.5(HBB):c.316-106C>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	beta Thalassemia +10 more	GPathogenic/Likely pathogenic
Select item 15438	NM_000518.5(HBB):c.315+1G>A	HBB, LOC106099062 +2 more	Single nucleotide variant (splice donor variant)	Dominant beta-thalassemia +11 more	GPathogenic
Select item 15138	NM_000518.4(HBB):c.208G>A (p.Gly70Ser)	HBB, LOC106099062 +1 more (G70S)	Single nucleotide variant (missense variant)	Hb SS disease +11 more	GConflicting classifications of pathogenicity
Select item 15417	NM_000518.5(HBB):c.126_129del (p.Phe42fs)	HBB, LOC106099062 +1 more (F42fs)	Deletion (frameshift variant)	beta Thalassemia +12 more	GPathogenic/Likely pathogenic
Select item 15402	NM_000518.5(HBB):c.118C>T (p.Gln40Ter)	HBB, LOC106099062 +1 more (Q40*)	Single nucleotide variant (nonsense)	alpha Thalassemia +11 more	GPathogenic
Select item 15431	NM_000518.5(HBB):c.112del (p.Trp38fs)	HBB, LOC106099062 +1 more (W38fs)	Deletion (frameshift variant)	Hemoglobinopathy +11 more	GPathogenic
Select item 15454	NM_000518.5(HBB):c.93-21G>A	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	not provided +12 more	GPathogenic/Likely pathogenic
Select item 15450	NM_000518.5(HBB):c.92+6T>C	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	not provided +12 more	GPathogenic/Likely pathogenic
Select item 15447	NM_000518.5(HBB):c.92+5G>C	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	not provided +13 more	GPathogenic
Select item 15437	NM_000518.5(HBB):c.92+1G>T	HBB, LOC106099062 +1 more	Single nucleotide variant (splice donor variant)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 15436	NM_000518.5(HBB):c.92+1G>A	HBB, LOC106099062 +1 more	Single nucleotide variant (splice donor variant)	beta Thalassemia +11 more	GPathogenic
Select item 15239	NM_000518.5(HBB):c.82G>T (p.Ala28Ser)	HBB, LOC106099062 +1 more (A28S)	Single nucleotide variant (missense variant)	beta Thalassemia +4 more	GPathogenic/Likely pathogenic
Select item 15161	NM_000518.5(HBB):c.79G>A (p.Glu27Lys)	HBB, LOC106099062 +1 more (E27K)	Single nucleotide variant (missense variant)	Hb SS disease +15 more	GPathogenic
Select item 15459	NM_000518.5(HBB):c.75T>A (p.Gly25=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	Hb SS disease +10 more	GPathogenic/Likely pathogenic
Select item 15401	NM_000518.5(HBB):c.52A>T (p.Lys18Ter)	HBB, LOC106099062 +1 more (K18*)	Single nucleotide variant (nonsense)	beta Thalassemia +10 more	GPathogenic
Select item 36308	NM_000518.5(HBB):c.27dup (p.Ser10fs)	LOC106099062, LOC107133510 +1 more (S10fs)	Duplication (frameshift variant)	beta Thalassemia +11 more	GPathogenic
Select item 15413	NM_000518.5(HBB):c.25_26del (p.Lys9fs)	HBB, LOC106099062 +1 more (K9fs)	Deletion (frameshift variant)	not provided +4 more	GPathogenic
Select item 15418	NM_000518.5(HBB):c.20del (p.Glu7fs)	HBB, LOC106099062 +1 more (E7fs)	Deletion (frameshift variant)	beta Thalassemia +10 more	GPathogenic
Select item 15333	NM_000518.5(HBB):c.20A>T (p.Glu7Val)	HBB, LOC106099062 +1 more (E7V)	Single nucleotide variant (missense variant)	HBB-related disorder +15 more	GPathogenic
Select item 15126	NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	LOC106099062, LOC107133510 +1 more (E7K)	Single nucleotide variant (missense variant)	HBB-related disorder +15 more	GPathogenic/Likely pathogenic
Select item 15422	NM_000518.5(HBB):c.17_18del (p.Pro6fs)	HBB, LOC106099062 +1 more (P6fs)	Deletion (frameshift variant)	beta Thalassemia +10 more	GPathogenic
Select item 15470	NM_000518.5(HBB):c.-78A>C	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided +10 more	GPathogenic
Select item 100059	NM_000402.4(G6PD):c.1478G>A (p.Arg493His)	G6PD (R463H +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 1722638	NM_001360016.2(G6PD):c.1387C>T (p.Arg463Cys)	G6PD (R463C +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GPathogenic/Likely pathogenic
Select item 100058	NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu)	G6PD (R459L +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +3 more	GPathogenic
Select item 10422	NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro)	G6PD (R459P +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 93493	NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)	G6PD (R454C +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +3 more	GPathogenic
Select item 958165	NM_001360016.2(G6PD):c.1347G>C (p.Gln449His)	G6PD (Q449H +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GPathogenic/Likely pathogenic
Select item 10376	NM_000402.4(G6PD):c.1250G>A (p.Arg417His)	G6PD (R387H +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GPathogenic
Select item 1068217	NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp)	G6PD (A335D +1 more)	Single nucleotide variant (missense variant)	Malaria, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 10363	NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)	G6PD (A335T +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +4 more	GPathogenic
Select item 10388	NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)	G6PD (L323P +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 10401	NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)	G6PD (E317K +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 10386	NM_000402.4(G6PD):c.961G>A (p.Val321Met)	G6PD (V291M +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 10362	NM_000402.4(G6PD):c.944G>A (p.Arg315His)	G6PD (R285H +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +2 more	GPathogenic/Likely pathogenic
Select item 10372	NM_000402.4(G6PD):c.934G>C (p.Asp312His)	G6PD (D282H +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +3 more	GPathogenic
Select item 1324435	NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser)	G6PD (T279S +1 more)	Single nucleotide variant (missense variant)	G6PD deficiency +2 more	GConflicting classifications of pathogenicity
Select item 3241644	NM_001360016.2(G6PD):c.735_741del (p.Arg246fs)	G6PD (R246fs +1 more)	Deletion (frameshift variant)	Malaria, susceptibility to	GLikely pathogenic
Select item 1722746	NM_001360016.2(G6PD):c.634A>G (p.Met212Val)	G6PD (M212V +1 more)	Single nucleotide variant (missense variant)	Malaria, susceptibility to +2 more	GConflicting classifications of pathogenicity
Select item 10417	NM_000402.4(G6PD):c.683G>A (p.Arg228His)	G6PD (R198H +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GPathogenic/Likely pathogenic
Select item 10391	NM_000402.4(G6PD):c.682C>T (p.Arg228Cys)	G6PD (R198C +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GPathogenic
Select item 100057	NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	G6PD (S188F +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 37203	NM_000402.4(G6PD):c.632A>T (p.Asp211Val)	G6PD (D181V +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +3 more	GPathogenic/Likely pathogenic
Select item 10407	NM_000402.4(G6PD):c.607T>C (p.Phe203Leu)	G6PD (F173L +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GPathogenic
Select item 1722734	NM_001360016.2(G6PD):c.497G>A (p.Arg166His)	G6PD (R166H +1 more)	Single nucleotide variant (missense variant)	Malaria, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 10393	NM_000402.4(G6PD):c.583A>G (p.Asn195Asp)	G6PD (N165D +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +3 more	GPathogenic/Likely pathogenic
Select item 10367	NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)	G6PD (G163S +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +4 more	GPathogenic/Likely pathogenic
Select item 544826	NM_001360016.2(G6PD):c.448G>A (p.Val150Ile)	G6PD (V150I +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +2 more	GLikely pathogenic
Select item 1722724	NM_001360016.2(G6PD):c.409C>T (p.Leu137Phe)	G6PD (L137F +1 more)	Single nucleotide variant (missense variant)	Malaria, susceptibility to +1 more	GLikely pathogenic
Select item 1075240	NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys)	G6PD (R136C +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +2 more	GPathogenic/Likely pathogenic
Select item 854215	NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr)	G6PD (N135T +1 more)	Single nucleotide variant (missense variant)	G6PD deficiency +3 more	GPathogenic
Select item 10404	NM_000402.4(G6PD):c.482G>T (p.Gly161Val)	G6PD (G131V +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +2 more	GPathogenic/Likely pathogenic
Select item 968939	NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg)	G6PD (L128R +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +2 more	GPathogenic/Likely pathogenic
Select item 93499	NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro)	G6PD (L128P +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +3 more	GPathogenic/Likely pathogenic
Select item 100055	NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)	G6PD (N126D +1 more)	Single nucleotide variant (missense variant)	G6PD deficiency +4 more	GConflicting classifications of pathogenicity
Select item 449323	NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys)	G6PD (Y100C +1 more)	Single nucleotide variant (missense variant)	Malaria, susceptibility to +2 more	GPathogenic/Likely pathogenic
Select item 37123	NM_000402.4(G6PD):c.292G>A (p.Val98Met)	G6PD (V68M +1 more)	Single nucleotide variant (missense variant)	G6PD deficiency +5 more	GPathogenic/Likely pathogenic
Select item 10402	NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)	G6PD (I48T +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +3 more	GPathogenic/Likely pathogenic
Select item 10406	NM_000402.4(G6PD):c.221C>G (p.Ala74Gly)	G6PD (A44G +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +3 more	GPathogenic
Select item 10403	NM_000402.4(G6PD):c.185A>G (p.His62Arg)	G6PD, IKBKG (H32R +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +4 more	GPathogenic/Likely pathogenic

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Items: 62