ClinVar for MedGen (Select 1634191) - ClinVar

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Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585253	NM_000518.5(HBB):c.421_422delinsAT (p.Ala141Ile)	HBB, LOC107133510 +1 more (A141I)	Indel (missense variant)	Erythrocytosis, familial, 6	GUncertain significance
Select item 1343492	NM_000518.5(HBB):c.*132C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided +10 more	GUncertain significance
Select item 1330020	NM_000518.5(HBB):c.316-3C>T	LOC110006319, HBB +1 more	Single nucleotide variant (intron variant)	Heinz body anemia +9 more	GUncertain significance
Select item 917854	NM_000518.5(HBB):c.300T>A (p.Asp100Glu)	HBB, LOC106099062 +1 more (D100E)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 762836	NM_000518.5(HBB):c.402G>A (p.Val134=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	Hereditary persistence of fetal hemoglobin +10 more	GLikely benign
Select item 695336	NM_000518.5(HBB):c.-273T>C	HBB, LOC106099062 +1 more	Single nucleotide variant	Heinz body anemia +9 more	GBenign/Likely benign
Select item 633256	NM_000518.5(HBB):c.436T>A (p.Tyr146Asn)	HBB, LOC107133510 +1 more (Y146N)	Single nucleotide variant (missense variant)	Hemoglobinopathy	GPathogenic
Select item 619854	NM_000518.5(HBB):c.169G>A (p.Gly57Ser)	LOC106099062, LOC107133510 +1 more (G57S)	Single nucleotide variant (missense variant)	not specified +10 more	GUncertain significance
Select item 495972	NM_000518.5(HBB):c.-100G>A	LOC107133510, HBB +1 more	Single nucleotide variant	not specified +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)	Dominant beta-thalassemia +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]	LOC106099062, LOC107133510 +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 446739	NM_000518.4(HBB):c.[364G>C;79G>A]	HBB, 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]	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]	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 439134	NM_000518.5(HBB):c.123G>T (p.Arg41Ser)	HBB, LOC106099062 +1 more (R41S)	Single nucleotide variant (missense variant)	Dominant beta-thalassemia +9 more	GUncertain significance
Select item 393701	NM_000518.5(HBB):c.-138C>A	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided +10 more	GPathogenic/Likely pathogenic
Select item 193106	NM_000518.5(HBB):c.9T>C (p.His3=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	not provided +14 more	GBenign
Select item 36334	NM_000518.5(HBB):c.92+2T>C	HBB, LOC106099062 +1 more	Single nucleotide variant (splice donor variant)	METHEMOGLOBINEMIA, BETA TYPE +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 36303	NM_000518.5(HBB):c.203_204del (p.Val68fs)	HBB, LOC106099062 +1 more (V68fs)	Deletion (frameshift variant)	METHEMOGLOBINEMIA, BETA TYPE +10 more	GPathogenic
Select item 36285	NM_000518.5(HBB):c.-137C>A	HBB, LOC106099062 +1 more	Single nucleotide variant	beta Thalassemia +12 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 15613	NM_000518.5(HBB):c.205C>T (p.Leu69Phe)	HBB, LOC106099062 +1 more (L69F)	Single nucleotide variant (missense variant)	not provided +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)	beta Thalassemia +10 more	GUncertain significance
Select item 15578	NM_000518.4(HBB):c.110C>A (p.Pro37His)	HBB, LOC106099062 +1 more (P37H)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 6 +1 more	GConflicting classifications of pathogenicity
Select item 15489	NM_000518.5(HBB):c.262A>C (p.Thr88Pro)	HBB, LOC106099062 +1 more (T88P)	Single nucleotide variant (missense variant)	beta Thalassemia +10 more	GBenign/Likely benign
Select item 15470	NM_000518.5(HBB):c.-78A>C	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided +10 more	GPathogenic
Select item 15469	NC_000011.10:g.5227100T>C	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided +11 more	GPathogenic
Select item 15464	NM_000518.5(HBB):c.-137C>G	HBB, LOC106099062 +1 more	Single nucleotide variant	beta Thalassemia +11 more	GPathogenic/Likely pathogenic
Select item 15461	NC_000011.10:g.5227172G>A	HBB, LOC106099062 +1 more	Single nucleotide variant	beta Thalassemia +10 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 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 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 15451	NM_000518.5(HBB):c.316-3C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	HBB-related disorder +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)	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 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 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 15431	NM_000518.5(HBB):c.112del (p.Trp38fs)	HBB, LOC106099062 +1 more (W38fs)	Deletion (frameshift variant)	Hemoglobinopathy +11 more	GPathogenic
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 15418	NM_000518.5(HBB):c.20del (p.Glu7fs)	HBB, LOC106099062 +1 more (E7fs)	Deletion (frameshift variant)	beta Thalassemia +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 +12 more	GPathogenic/Likely pathogenic
Select item 15415	NM_000518.5(HBB):c.135del (p.Phe46fs)	HBB, LOC106099062 +1 more (F46fs)	Deletion (frameshift variant)	beta Thalassemia +10 more	GPathogenic/Likely pathogenic
Select item 15414	NM_000518.5(HBB):c.51del (p.Lys18fs)	HBB, LOC106099062 +1 more (K18fs)	Deletion (frameshift variant)	HBB-related disorder +13 more	GPathogenic
Select item 15407	NM_000518.5(HBB):c.184A>T (p.Lys62Ter)	HBB, LOC106099062 +1 more (K62*)	Single nucleotide variant (nonsense)	beta Thalassemia +10 more	GPathogenic
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 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 15397	NM_000518.4(HBB):c.298G>T (p.Asp100Tyr)	HBB, LOC106099062 +1 more (D100Y)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 6	GPathogenic
Select item 15395	NM_000518.4(HBB):c.440A>C (p.His147Pro)	HBB, LOC107133510 +1 more (H147P)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 6 +1 more	GPathogenic; other
Select item 15391	NM_000518.4(HBB):c.298G>C (p.Asp100His)	HBB, LOC106099062 +1 more (D100H)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 6 +1 more	GPathogenic; other
Select item 15390	NM_000518.4(HBB):c.293A>T (p.His98Leu)	HBB, LOC106099062 +1 more (H98L)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 6 +1 more	GPathogenic; other
Select item 15383	NM_000518.5(HBB):c.268A>C (p.Ser90Arg)	HBB, LOC106099062 +1 more (S90R)	Single nucleotide variant (missense variant)	HEMOGLOBIN VANDERBILT +1 more	GPathogenic; other
Select item 15380	NM_000518.4(HBB):c.374C>A (p.Pro125Gln)	HBB, LOC107133510 +1 more (P125Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 15365	NM_000518.5(HBB):c.431A>C (p.His144Pro)	HBB, LOC107133510 +1 more (H144P)	Single nucleotide variant (missense variant)	not specified	GPathogenic
Select item 15342	NM_000518.5(HBB):c.328G>A (p.Val110Met)	HBB, LOC107133510 +1 more (V110M)	Single nucleotide variant (missense variant)	beta Thalassemia +2 more	GPathogenic/Likely pathogenic
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 15339	NM_000518.5(HBB):c.421G>A (p.Ala141Thr)	HBB, LOC107133510 +1 more (A141T)	Single nucleotide variant (missense variant)	HEMOGLOBIN SAINT JACQUES +1 more	GPathogenic; other
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 15322	NM_000518.5(HBB):c.437A>G (p.Tyr146Cys)	HBB, LOC107133510 +1 more (Y146C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 15321	NM_000518.4(HBB):c.248A>C (p.Lys83Thr)	HBB, LOC106099062 +1 more (K83T)	Single nucleotide variant (missense variant)	HEMOGLOBIN RAHERE +1 more	GPathogenic; other
Select item 15319	NM_000518.5(HBB):c.249G>Y (p.Lys83Asn)	HBB, LOC106099062 +1 more (K83N)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 6 +1 more	GPathogenic; other
Select item 15317	NM_000518.5(HBB):c.306G>C (p.Glu102Asp)	HBB, LOC106099062 +2 more (E102D)	Single nucleotide variant (missense variant)	HEMOGLOBIN POTOMAC +1 more	GPathogenic; other
Select item 15315	NM_000518.4(HBB):c.299A>C (p.Asp100Ala)	HBB, LOC106099062 +1 more (D100A)	Single nucleotide variant (missense variant)	HEMOGLOBIN RADCLIFFE +1 more	GPathogenic; other
Select item 15312	NM_000518.5(HBB):c.103G>T (p.Val35Phe)	HBB, LOC106099062 +1 more (V35F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 15306	NM_000518.4(HBB):c.70G>T (p.Val24Phe)	HBB, LOC106099062 +1 more (V24F)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 6 +1 more	GPathogenic; other
Select item 15300	NM_000518.5(HBB):c.61G>A (p.Val21Met)	HBB, LOC106099062 +1 more (V21M)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 15294	NM_000518.4(HBB):c.428C>A (p.Ala143Asp)	HBB, LOC107133510 +1 more (A143D)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 6 +1 more	GPathogenic; other
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 15265	NM_000518.5(HBB):c.438T>A (p.Tyr146Ter)	HBB, LOC107133510 +1 more (Y146*)	Single nucleotide variant (nonsense)	HEMOGLOBIN MCKEES ROCKS +1 more	GPathogenic; other
Select item 15259	NM_000518.5(HBB):c.294C>R (p.His98Gln)	HBB, LOC106099062 +1 more (H98Q)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 6 +1 more	GPathogenic; other
Select item 15250	Hb Little Rock	HBB, LOC107133510 +1 more (H144Q)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 6	GPathogenic
Select item 15236	NM_000518.4(HBB):c.298G>A (p.Asp100Asn)	HBB, LOC106099062 +1 more (D100N)	Single nucleotide variant (missense variant)	HEMOGLOBIN KEMPSEY +1 more	GPathogenic; other
Select item 15204	NM_000518.4(HBB):c.299A>G (p.Asp100Gly)	HBB, LOC106099062 +1 more (D100G)	Single nucleotide variant (missense variant)	HEMOGLOBIN HOTEL-DIEU +1 more	GPathogenic; other
Select item 15200	NM_000518.4(HBB):c.439C>G (p.His147Asp)	HBB, LOC107133510 +1 more (H147D)	Single nucleotide variant (missense variant)	HEMOGLOBIN HIROSHIMA +1 more	GPathogenic; other
Select item 15193	NM_000518.4(HBB):c.248A>T (p.Lys83Met)	HBB, LOC106099062 +1 more (K83M)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 15192	NM_000518.5(HBB):c.312C>G (p.Phe104Leu)	HBB, LOC106099062 +2 more (F104L)	Single nucleotide variant (missense variant)	HEMOGLOBIN HEATHROW +1 more	GPathogenic; other
Select item 15189	NM_000518.4(HBB):c.34G>A (p.Val12Ile)	HBB, LOC106099062 +1 more (V12I)	Single nucleotide variant (missense variant)	beta Thalassemia +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)	Hb SS disease +15 more	GPathogenic
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 15147	NM_000518.4(HBB):c.269G>A (p.Ser90Asn)	HBB, LOC106099062 +1 more (S90N)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 6 +2 more	GPathogenic/Likely pathogenic; other
Select item 15144	NM_000518.4(HBB):c.440A>T (p.His147Leu)	HBB, LOC107133510 +1 more (H147L)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 6 +1 more	GPathogenic; other
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 15134	NM_000518.4(HBB):c.299A>T (p.Asp100Val)	HBB, LOC106099062 +1 more (D100V)	Single nucleotide variant (missense variant)	HEMOGLOBIN CHEMILLY +1 more	GPathogenic; other
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 15118	NM_000518.4(HBB):c.304G>A (p.Glu102Lys)	LOC110006319, LOC107133510 +2 more (E102K)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 6 +1 more	GPathogenic; other
Select item 15117	NM_000518.4(HBB):c.206T>A (p.Leu69His)	HBB, LOC106099062 +1 more (L69H)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 6 +2 more	GPathogenic; other
Select item 15116	NM_000518.4(HBB):c.302C>T (p.Pro101Leu)	HBB, LOC106099062 +2 more (P101L)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 6 +1 more	GPathogenic; other
Select item 15112	NM_000518.5(HBB):c.436T>C (p.Tyr146His)	HBB, LOC107133510 +1 more (Y146H)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 15104	NM_000518.4(HBB):c.283G>C (p.Asp95His)	LOC106099062, LOC107133510 +1 more (D95H)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 6 +1 more	GPathogenic; other
Select item 15096	NM_000518.5(HBB):c.435G>C (p.Lys145Asn)	HBB, LOC107133510 +1 more (K145N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 15094	NM_000518.5(HBB):c.305A>G (p.Glu102Gly)	LOC106099062, LOC107133510 +2 more (E102G)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 6 +1 more	GPathogenic; other

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Items: 99