ClinVar for MedGen (Select 333874) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1330868	NM_000559.3(HBG1):c.76G>A (p.Gly26Arg)	HBG1, LOC106099064 (G26R)	Single nucleotide variant (missense variant)	Fetal hemoglobin quantitative trait locus 1	GLikely benign
Select item 879892	NM_000519.4(HBD):c.6G>A (p.Val2=)	HBD	Single nucleotide variant (synonymous variant)	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 879891	NM_000519.4(HBD):c.60C>T (p.Asn20=)	HBD	Single nucleotide variant (synonymous variant)	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 879840	NM_000518.5(HBB):c.85C>T (p.Leu29=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	Hemoglobin E +5 more	GConflicting classifications of pathogenicity
Select item 879527	NM_000519.4(HBD):c.83C>A (p.Ala28Asp)	HBD, LOC106099063 (A28D)	Single nucleotide variant (missense variant)	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 879526	NM_000519.4(HBD):c.97C>T (p.Leu33=)	LOC106099063, HBD	Single nucleotide variant (synonymous variant)	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 879525	NM_000519.4(HBD):c.*65T>C	HBD	Single nucleotide variant (3 prime UTR variant)	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 879524	NM_000519.4(HBD):c.*96G>T	HBD	Single nucleotide variant (3 prime UTR variant)	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 879417	NM_000518.5(HBB):c.*18C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	Fetal hemoglobin quantitative trait locus 1 +3 more	GUncertain significance
Select item 878836	NM_000518.5(HBB):c.*59A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	beta Thalassemia +3 more	GUncertain significance
Select item 446748	NM_000518.4(HBB):c.[205C>T;20A>T]	LOC106099062, LOC107133510 +1 more (E7V +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN JAMAICA PLAIN	Gother
Select item 446747	NM_000518.4(HBB):c.[20A>T;271G>A]	LOC107133510, HBB +1 more (E91K +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN S (CAMEROON)	GPathogenic
Select item 446746	NM_000518.4(HBB):c.[34G>A;364G>A]	LOC107133510, LOC106099062 +2 more (V12I +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN O (TIBESTI)	Gother
Select item 446739	NM_000518.4(HBB):c.[364G>C;79G>A]	LOC110006319, LOC107133510 +2 more (E122Q +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN T (CAMBODIA)	Gother
Select item 446738	NM_000518.4(HBB):c.[20A>T;428C>T]	LOC106099062, LOC107133510 +2 more (E7V +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN S (TRAVIS)	GPathogenic
Select item 446737	NM_000518.4(HBB):c.[20A>T;249G>Y]	HBB, LOC106099062 +1 more (K83N +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN S (PROVIDENCE)	GPathogenic
Select item 446736	NM_000518.4(HBB):c.[20A>T;364G>A]	HBB, LOC107133510 +2 more (E122K +1 more)	Single nucleotide variant (missense variant)	Sickle cell-Hemoglobin O Arab disease	GPathogenic
Select item 446735	NM_000518.4(HBB):c.[20A>T;70G>A]	LOC106099062, LOC107133510 +1 more (E7V +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN S (ANTILLES)	GPathogenic
Select item 446731	NM_000518.4(HBB):c.[176C>G;20A>T]	LOC106099062, LOC107133510 +1 more (E7V +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN ZIGUINCHOR	Gother
Select item 446730	NM_000518.4(HBB):c.[20A>T;220G>A]	LOC107133510, HBB +1 more (D74N +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN ZIGUINCHOR	Gother
Select item 446729	NM_000518.4(HBB):c.[19G>A;286A>G]	LOC106099062, LOC107133510 +1 more (E7K +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN ARLINGTON PARK	Gother
Select item 439783	NM_000518.5(HBB):c.294C>T (p.His98=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 439778	NM_000518.5(HBB):c.246C>A (p.Leu82=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	beta Thalassemia +5 more	GConflicting classifications of pathogenicity
Select item 439144	NM_000518.5(HBB):c.274C>T (p.Leu92=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	Fetal hemoglobin quantitative trait locus 1 +5 more	GConflicting classifications of pathogenicity
Select item 393701	NM_000518.5(HBB):c.-138C>A	HBB, LOC106099062 +1 more	Single nucleotide variant	beta Thalassemia +11 more	GConflicting classifications of pathogenicity
Select item 305008	NM_000519.3(HBD):c.-180A>G	HBD, LOC109951029	Single nucleotide variant	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 305007	NM_000519.3(HBD):c.-62C>T	HBD, LOC109951029	Single nucleotide variant	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 305006	NM_000519.3(HBD):c.-60A>T	HBD, LOC109951029	Single nucleotide variant	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 305005	NM_000519.4(HBD):c.76G>A (p.Gly26Ser)	HBD, LOC106099063 (G26S)	Single nucleotide variant (missense variant)	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 305004	NM_000519.4(HBD):c.225C>T (p.Gly75=)	HBD, LOC106099063	Single nucleotide variant (synonymous variant)	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 305003	NM_000519.4(HBD):c.*59C>G	HBD	Single nucleotide variant (3 prime UTR variant)	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 305002	NM_000519.4(HBD):c.*91G>A	HBD	Single nucleotide variant (3 prime UTR variant)	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 305001	NM_000518.5(HBB):c.*53C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	Fetal hemoglobin quantitative trait locus 1 +3 more	GUncertain significance
Select item 305000	NM_000518.5(HBB):c.*56A>T	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	Hemoglobin E +3 more	GUncertain significance
Select item 193106	NM_000518.5(HBB):c.9T>C (p.His3=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +14 more	GBenign
Select item 36327	NM_000518.5(HBB):c.402G>C (p.Val134=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 36322	NM_000518.5(HBB):c.324C>T (p.Gly108=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 36291	NM_000518.5(HBB):c.-31C>T	HBB, LOC106099062 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 36285	NM_000518.5(HBB):c.-137C>A	HBB, LOC106099062 +1 more	Single nucleotide variant	Beta-thalassemia HBB/LCRB +12 more	GPathogenic/Likely pathogenic
Select item 15454	NM_000518.5(HBB):c.93-21G>A	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	Inborn genetic diseases +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)	Inborn genetic diseases +12 more	GConflicting classifications of pathogenicity
Select item 15447	NM_000518.5(HBB):c.92+5G>C	LOC106099062, LOC107133510 +1 more	Single nucleotide variant (intron variant)	Inborn genetic diseases +13 more	GPathogenic
Select item 15436	NM_000518.5(HBB):c.92+1G>A	LOC107133510, HBB +1 more	Single nucleotide variant (splice donor variant)	Beta-thalassemia HBB/LCRB +11 more	GPathogenic
Select item 15417	NM_000518.5(HBB):c.126_129del (p.Phe42fs)	HBB, LOC106099062 +1 more (F42fs)	Deletion (frameshift variant)	Beta-thalassemia HBB/LCRB +13 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 HBB/LCRB +10 more	GPathogenic
Select item 15333	NM_000518.5(HBB):c.20A>T (p.Glu7Val)	LOC106099062, LOC107133510 +1 more (E7V)	Single nucleotide variant (missense variant)	not provided +16 more	GPathogenic
Select item 15189	NM_000518.4(HBB):c.34G>A (p.Val12Ile)	LOC107133510, LOC106099062 +1 more (V12I)	Single nucleotide variant (missense variant)	Beta-thalassemia HBB/LCRB +13 more	GUncertain significance
Select item 15161	NM_000518.5(HBB):c.79G>A (p.Glu27Lys)	HBB, LOC106099062 +1 more (E27K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +15 more	GPathogenic
Select item 15138	NM_000518.4(HBB):c.208G>A (p.Gly70Ser)	LOC107133510, HBB +1 more (G70S)	Single nucleotide variant (missense variant)	Methemoglobinemia, beta-globin type +11 more	GConflicting classifications of pathogenicity
Select item 15126	NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	LOC106099062, LOC107133510 +1 more (E7K)	Single nucleotide variant (missense variant)	HBB-related condition +16 more	GPathogenic
Select item 15070	NM_000519.4(HBD):c.82G>T (p.Ala28Ser)	LOC106099063, HBD (A28S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 15023	NM_000559.3(HBG1):c.364G>A (p.Glu122Lys)	HBG1 (E122K)	Single nucleotide variant (missense variant)	Fetal hemoglobin quantitative trait locus 1	GLikely benign

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Items: 52