ClinVar for MedGen (Select 287) - ClinVar

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Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1343492	NM_000518.5(HBB):c.*132C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	Malaria, susceptibility to +10 more	GUncertain significance
Select item 1330020	NM_000518.5(HBB):c.316-3C>T	LOC110006319, HBB +1 more	Single nucleotide variant (intron variant)	Malaria, susceptibility to +9 more	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 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 869111	NM_000518.4(HBB):c.[316-12T>C;316-7C>A]	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	beta Thalassemia	GPathogenic
Select item 762836	NM_000518.5(HBB):c.402G>A (p.Val134=)	LOC107133510, LOC110006319 +1 more	Single nucleotide variant (synonymous variant)	not provided +10 more	GLikely benign
Select item 695336	NM_000518.5(HBB):c.-273T>C	HBB, LOC106099062 +1 more	Single nucleotide variant	Dominant beta-thalassemia +9 more	GBenign/Likely benign
Select item 619854	NM_000518.5(HBB):c.169G>A (p.Gly57Ser)	HBB, LOC106099062 +1 more (G57S)	Single nucleotide variant (missense variant)	Methemoglobinemia, beta-globin type +10 more	GUncertain significance
Select item 551906	NM_000518.5(HBB):c.316-7C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	beta Thalassemia +3 more	GConflicting classifications of pathogenicity
Select item 495972	NM_000518.5(HBB):c.-100G>A	HBB, LOC106099062 +1 more	Single nucleotide variant	Dominant beta-thalassemia +10 more	GUncertain significance
Select item 495969	NM_000518.5(HBB):c.*62A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not specified +10 more	GUncertain significance
Select item 446748	NM_000518.4(HBB):c.[205C>T;20A>T]	HBB, LOC106099062 +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]	HBB, LOC106099062 +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]	HBB, LOC106099062 +2 more (V12I +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN O (TIBESTI)	Gother
Select item 446745	NM_000518.4(HBB):c.[29C>A;364G>C]	LOC107133510, LOC110006319 +2 more (E122Q +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN D (AGRI)	Gother
Select item 446740	NM_000518.4(HBB):c.[280T>C;364G>C]	LOC107133510, LOC110006319 +2 more (E122Q +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN CLEVELAND	Gother
Select item 446739	NM_000518.4(HBB):c.[364G>C;79G>A]	LOC107133510, LOC110006319 +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]	HBB, LOC106099062 +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]	HBB, LOC106099062 +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]	HBB, LOC106099062 +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]	HBB, LOC106099062 +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]	HBB, LOC106099062 +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 439134	NM_000518.5(HBB):c.123G>T (p.Arg41Ser)	HBB, LOC106099062 +1 more (R41S)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 393701	NM_000518.5(HBB):c.-138C>A	HBB, LOC106099062 +1 more	Single nucleotide variant	Hemoglobinopathy +11 more	GConflicting classifications of pathogenicity
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=)	LOC106099062, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 6 +14 more	GBenign
Select item 36334	NM_000518.5(HBB):c.92+2T>C	HBB, LOC106099062 +1 more	Single nucleotide variant (splice donor variant)	Beta-thalassemia HBB/LCRB +10 more	GPathogenic
Select item 36332	NM_000518.5(HBB):c.*110T>C	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GPathogenic
Select item 36327	NM_000518.5(HBB):c.402G>C (p.Val134=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +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 specified +5 more	GConflicting classifications of pathogenicity
Select item 36308	NM_000518.5(HBB):c.27dup (p.Ser10fs)	HBB, LOC106099062 +1 more (S10fs)	Duplication (frameshift variant)	Beta-thalassemia HBB/LCRB +12 more	GConflicting classifications of pathogenicity
Select item 36303	NM_000518.5(HBB):c.203_204del (p.Val68fs)	HBB, LOC106099062 +1 more (V68fs)	Deletion (frameshift variant)	Beta-thalassemia HBB/LCRB +10 more	GPathogenic
Select item 36291	NM_000518.5(HBB):c.-31C>T	HBB, LOC106099062 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 36287	NM_000518.4(HBB):c.-137C>T	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided +2 more	GPathogenic
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 36281	NM_000518.5(HBB):c.-106G>C	LOC107133510, HBB +1 more	Single nucleotide variant	Beta-thalassemia HBB/LCRB +3 more	GUncertain significance
Select item 21191	NM_000518.5(HBB):c.316-2A>G	HBB, LOC107133510 +1 more	Single nucleotide variant (splice acceptor variant)	Beta-thalassemia HBB/LCRB +10 more	GPathogenic
Select item 15613	NM_000518.5(HBB):c.205C>T (p.Leu69Phe)	HBB, LOC106099062 +1 more (L69F)	Single nucleotide variant (missense variant)	Beta-thalassemia HBB/LCRB +9 more	GPathogenic/Likely pathogenic
Select item 15584	NM_000518.4(HBB):c.371C>A (p.Thr124Asn)	HBB, LOC107133510 +1 more (T124N)	Single nucleotide variant (missense variant)	Methemoglobinemia, beta-globin type +10 more	GUncertain significance
Select item 15489	NM_000518.5(HBB):c.262A>C (p.Thr88Pro)	HBB, LOC106099062 +1 more (T88P)	Single nucleotide variant (missense variant)	not specified +10 more	GBenign/Likely benign
Select item 15471	NM_000518.5(HBB):c.-78A>G	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided +2 more	GPathogenic/Likely pathogenic
Select item 15470	NM_000518.5(HBB):c.-78A>C	HBB, LOC106099062 +1 more	Single nucleotide variant	Beta-thalassemia HBB/LCRB +10 more	GPathogenic
Select item 15469	NM_000518.5(HBB):c.-79A>G	HBB, LOC106099062 +1 more	Single nucleotide variant	Beta-thalassemia HBB/LCRB +11 more	GPathogenic
Select item 15464	NM_000518.5(HBB):c.-137C>G	LOC107133510, HBB +1 more	Single nucleotide variant	Beta-thalassemia HBB/LCRB +11 more	GPathogenic/Likely pathogenic
Select item 15461	NM_000518.5(HBB):c.-151C>T	HBB, LOC106099062 +1 more	Single nucleotide variant	Beta-thalassemia HBB/LCRB +11 more	GConflicting classifications of pathogenicity
Select item 15459	NM_000518.5(HBB):c.75T>A (p.Gly25=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	Beta-thalassemia HBB/LCRB +10 more	GPathogenic/Likely pathogenic
Select item 15458	NM_000518.5(HBB):c.316-197C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	HBB-related condition +4 more	GPathogenic
Select item 15457	NM_000518.5(HBB):c.316-106C>G	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	Beta-thalassemia HBB/LCRB +10 more	GPathogenic
Select item 15454	NM_000518.5(HBB):c.93-21G>A	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	Beta-thalassemia HBB/LCRB +12 more	GPathogenic/Likely pathogenic
Select item 15451	NM_000518.5(HBB):c.316-3C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	Beta-thalassemia HBB/LCRB +11 more	GPathogenic/Likely pathogenic
Select item 15450	NM_000518.5(HBB):c.92+6T>C	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	HBB-related condition +12 more	GConflicting classifications of pathogenicity
Select item 15447	NM_000518.5(HBB):c.92+5G>C	HBB, LOC106099062 +1 more	Single nucleotide variant (intron variant)	Inborn genetic diseases +13 more	GPathogenic
Select item 15438	NM_000518.5(HBB):c.315+1G>A	LOC106099062, LOC107133510 +2 more	Single nucleotide variant (splice donor variant)	Beta-thalassemia HBB/LCRB +11 more	GPathogenic
Select item 15437	NM_000518.5(HBB):c.92+1G>T	HBB, LOC106099062 +1 more	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +12 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 HBB/LCRB +11 more	GPathogenic
Select item 15434	NM_000518.5(HBB):c.2T>G (p.Met1Arg)	LOC107133510, HBB +1 more (M1R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 15432	NM_000518.5(HBB):c.85dup (p.Leu29fs)	HBB, LOC106099062 +1 more (L29fs)	Duplication (frameshift variant)	Hemoglobinopathy +3 more	GPathogenic/Likely pathogenic
Select item 15431	NM_000518.5(HBB):c.112del (p.Trp38fs)	LOC107133510, HBB +1 more (W38fs)	Deletion (frameshift variant)	Beta-thalassemia HBB/LCRB +11 more	GPathogenic
Select item 15422	NM_000518.5(HBB):c.17_18del (p.Pro6fs)	LOC106099062, LOC107133510 +1 more (P6fs)	Deletion (frameshift variant)	Beta-thalassemia HBB/LCRB +11 more	GPathogenic
Select item 15418	NM_000518.5(HBB):c.20del (p.Glu7fs)	HBB, LOC106099062 +1 more (E7fs)	Deletion (frameshift variant)	Beta-thalassemia HBB/LCRB +10 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 15415	NM_000518.5(HBB):c.135del (p.Phe46fs)	LOC107133510, HBB +1 more (F46fs)	Deletion (frameshift variant)	Beta-thalassemia HBB/LCRB +10 more	GPathogenic/Likely pathogenic
Select item 15414	NM_000518.5(HBB):c.51del (p.Lys18fs)	HBB, LOC106099062 +1 more (K18fs)	Deletion (frameshift variant)	Beta-thalassemia HBB/LCRB +13 more	GPathogenic
Select item 15413	NM_000518.5(HBB):c.25_26del (p.Lys9fs)	HBB, LOC106099062 +1 more (K9fs)	Deletion (frameshift variant)	Beta-thalassemia HBB/LCRB +4 more	GPathogenic
Select item 15407	NM_000518.5(HBB):c.184A>T (p.Lys62Ter)	HBB, LOC106099062 +1 more (K62*)	Single nucleotide variant (nonsense)	not provided +10 more	GPathogenic
Select item 15406	NM_000518.5(HBB):c.130G>T (p.Glu44Ter)	LOC106099062, LOC107133510 +1 more (E44*)	Single nucleotide variant (nonsense)	beta Thalassemia +3 more	GPathogenic
Select item 15404	NM_000518.5(HBB):c.364G>T (p.Glu122Ter)	LOC110006319, HBB +1 more (E122*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 15403	NM_000518.5(HBB):c.47G>A (p.Trp16Ter)	HBB, LOC106099062 +1 more (W16*)	Single nucleotide variant (nonsense)	Beta-thalassemia HBB/LCRB +3 more	GPathogenic
Select item 15402	NM_000518.5(HBB):c.118C>T (p.Gln40Ter)	LOC106099062, LOC107133510 +1 more (Q40*)	Single nucleotide variant (nonsense)	Beta-thalassemia HBB/LCRB +12 more	GPathogenic
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 15352	NM_000518.4(HBB):c.332T>C (p.Leu111Pro)	HBB, LOC107133510 +1 more (L111P)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 15341	NM_000518.4(HBB):c.44T>C (p.Leu15Pro)	HBB, LOC106099062 +1 more (L15P)	Single nucleotide variant (missense variant)	not provided +10 more	GUncertain significance
Select item 15333	NM_000518.5(HBB):c.20A>T (p.Glu7Val)	HBB, LOC106099062 +1 more (E7V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +16 more	GPathogenic
Select item 15300	NM_000518.5(HBB):c.61G>A (p.Val21Met)	HBB, LOC106099062 +1 more (V21M)	Single nucleotide variant (missense variant)	Beta-thalassemia HBB/LCRB +9 more	GPathogenic
Select item 15292	NM_000518.4(HBB):c.364G>A (p.Glu122Lys)	HBB, LOC107133510 +1 more (E122K)	Single nucleotide variant (missense variant)	Beta-thalassemia HBB/LCRB +11 more	GPathogenic/Likely pathogenic
Select item 15245	NM_000518.5(HBB):c.389C>T (p.Ala130Val)	LOC110006319, HBB +1 more (A130V)	Single nucleotide variant (missense variant)	Hemoglobinopathy +2 more	GConflicting classifications of pathogenicity
Select item 15239	NM_000518.5(HBB):c.82G>T (p.Ala28Ser)	HBB, LOC106099062 +1 more (A28S)	Single nucleotide variant (missense variant)	Hemoglobinopathy +4 more	GPathogenic/Likely pathogenic
Select item 15234	NM_000518.4(HBB):c.92G>C (p.Arg31Thr)	LOC106099062, LOC107133510 +1 more (R31T)	Single nucleotide variant (missense variant)	Beta-thalassemia HBB/LCRB +4 more	GPathogenic
Select item 15202	NM_000518.4(HBB):c.410G>A (p.Gly137Asp)	HBB, LOC107133510 +1 more (G137D)	Single nucleotide variant (missense variant)	Beta-thalassemia HBB/LCRB +4 more	GConflicting classifications of pathogenicity
Select item 15189	NM_000518.4(HBB):c.34G>A (p.Val12Ile)	HBB, 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)	LOC107133510, HBB +1 more (E27K)	Single nucleotide variant (missense variant)	HBB-related condition +15 more	GPathogenic
Select item 15152	NM_000518.4(HBB):c.364G>C (p.Glu122Gln)	LOC107133510, LOC110006319 +1 more (E122Q)	Single nucleotide variant (missense variant)	Hemoglobin D disease +5 more	GPathogenic/Likely pathogenic
Select item 15149	NM_000518.4(HBB):c.68A>T (p.Glu23Val)	HBB, LOC106099062 +1 more (E23V)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
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)	HBB, LOC106099062 +1 more (E7K)	Single nucleotide variant (missense variant)	HBB-related condition +15 more	GPathogenic

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Items: 92