ClinVar for MedGen (Select 347036) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705074	NM_000518.5(HBB):c.382C>T (p.Gln128Ter)	HBB, LOC107133510 +1 more (Q128*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1343492	NM_000518.5(HBB):c.*132C>A	HBB, LOC107133510 +1 more	Single nucleotide variant (3 prime UTR variant)	not specified +10 more	GUncertain significance
Select item 1330020	NM_000518.5(HBB):c.316-3C>T	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	Erythrocytosis, familial, 6 +9 more	GUncertain significance
Select item 1189030	NM_000518.5(HBB):c.394_404del (p.Gln132fs)	HBB, LOC107133510 +1 more (Q132fs)	Deletion (frameshift variant)	Dominant beta-thalassemia	GPathogenic
Select item 869338	NM_000518.5(HBB):c.138del (p.Phe46fs)	HBB, LOC106099062 +1 more (F46fs)	Deletion (frameshift variant)	Hemoglobinopathy +1 more	GPathogenic
Select item 869322	NM_000518.5(HBB):c.92_94dup (p.Arg31dup)	HBB, LOC106099062 +1 more	Duplication (splice acceptor variant)	Dominant beta-thalassemia +1 more	GPathogenic
Select item 869313	NM_000518.5(HBB):c.[385_388delinsCCACA;397_407del]	LOC107133510, LOC110006319 +1 more (A129fs +1 more)	Indel (frameshift variant)	Dominant beta-thalassemia +1 more	GPathogenic
Select item 762836	NM_000518.5(HBB):c.402G>A (p.Val134=)	HBB, LOC107133510 +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	Heinz body anemia +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)	Heinz body anemia +10 more	GUncertain significance
Select item 495972	NM_000518.5(HBB):c.-100G>A	HBB, LOC106099062 +1 more	Single nucleotide variant	not specified +10 more	GUncertain significance
Select item 495969	NM_000518.5(HBB):c.*62A>G	LOC107133510, LOC110006319 +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]	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 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]	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 439134	NM_000518.5(HBB):c.123G>T (p.Arg41Ser)	HBB, LOC106099062 +1 more (R41S)	Single nucleotide variant (missense variant)	Heinz body anemia +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)	Beta-thalassemia HBB/LCRB +10 more	GPathogenic
Select item 36308	NM_000518.5(HBB):c.27dup (p.Ser10fs)	HBB, LOC106099062 +1 more (S10fs)	Duplication (frameshift variant)	Hb SS disease +12 more	GPathogenic
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 36302	NM_000518.5(HBB):c.201del (p.Val68fs)	HBB, LOC107133510 +1 more (V68fs)	Deletion (frameshift variant)	Dominant beta-thalassemia	GLikely pathogenic
Select item 36291	NM_000518.5(HBB):c.-31C>T	LOC107133510, HBB +1 more	Single nucleotide variant (5 prime UTR variant)	Fetal hemoglobin quantitative trait locus 1 +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 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)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 15600	NM_000518.5(HBB):c.340del (p.Val114fs)	HBB, LOC107133510 +1 more (V114fs)	Deletion (frameshift variant)	Dominant beta-thalassemia	GPathogenic
Select item 15584	NM_000518.4(HBB):c.371C>A (p.Thr124Asn)	HBB, LOC107133510 +1 more (T124N)	Single nucleotide variant (missense variant)	Beta-thalassemia HBB/LCRB +10 more	GUncertain significance
Select item 15519	NM_000518.5(HBB):c.3G>A (p.Met1Ile)	HBB, LOC106099062 +1 more (M1I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 15513	NM_000518.5(HBB):c.344T>C (p.Leu115Pro)	HBB, LOC107133510 +1 more (L115P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 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	Heinz body anemia +11 more	GPathogenic
Select item 15464	NM_000518.5(HBB):c.-137C>G	HBB, LOC106099062 +1 more	Single nucleotide variant	Beta-thalassemia HBB/LCRB +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)	beta Thalassemia +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)	Dominant 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)	Erythrocytosis, familial, 6 +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)	Malaria, susceptibility to +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)	Erythrocytosis, familial, 6 +13 more	GPathogenic
Select item 15438	NM_000518.5(HBB):c.315+1G>A	HBB, LOC106099062 +2 more	Single nucleotide variant (splice donor variant)	Malaria, susceptibility to +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 +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)	Inborn genetic diseases +12 more	GPathogenic
Select item 15431	NM_000518.5(HBB):c.112del (p.Trp38fs)	HBB, LOC106099062 +1 more (W38fs)	Deletion (frameshift variant)	Beta-thalassemia HBB/LCRB +11 more	GPathogenic
Select item 15428	NM_000518.5(HBB):c.282_283dup (p.Asp95fs)	HBB, LOC106099062 +1 more (D95fs)	Microsatellite (frameshift variant)	Dominant beta-thalassemia	GLikely pathogenic
Select item 15422	NM_000518.5(HBB):c.17_18del (p.Pro6fs)	HBB, LOC106099062 +1 more (P6fs)	Deletion (frameshift variant)	Beta-thalassemia HBB/LCRB +10 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)	Fetal hemoglobin quantitative trait locus 1 +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 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)	Hemoglobinopathy +13 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 15404	NM_000518.5(HBB):c.364G>T (p.Glu122Ter)	HBB, LOC107133510 +1 more (E122*)	Single nucleotide variant (nonsense)	Dominant beta-thalassemia +2 more	GPathogenic
Select item 15402	NM_000518.5(HBB):c.118C>T (p.Gln40Ter)	HBB, LOC106099062 +1 more (Q40*)	Single nucleotide variant (nonsense)	Malaria, susceptibility to +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 HBB/LCRB +10 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 specified +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)	beta Thalassemia +15 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 +10 more	GPathogenic/Likely pathogenic
Select item 15292	NM_000518.4(HBB):c.364G>A (p.Glu122Lys)	HBB, LOC107133510 +1 more (E122K)	Single nucleotide variant (missense variant)	beta Thalassemia +11 more	GPathogenic/Likely pathogenic
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)	Inborn genetic diseases +16 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 15138	NM_000518.4(HBB):c.208G>A (p.Gly70Ser)	HBB, LOC106099062 +1 more (G70S)	Single nucleotide variant (missense variant)	Fetal hemoglobin quantitative trait locus 1 +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)	Heinz body anemia +15 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 72