ClinVar for MedGen (Select 42400) - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068889	NM_000518.5(HBB):c.19del (p.Glu7fs)	HBB, LOC106099062 +1 more (E7fs)	Deletion (frameshift variant)	Hemoglobinopathy	GPathogenic
Select item 2691364	NM_000518.5(HBB):c.345_348dup (p.His117fs)	HBB, LOC107133510 +1 more (H117fs)	Duplication (frameshift variant)	Hemoglobinopathy	GPathogenic
Select item 2577315	NM_000518.5(HBB):c.118_121dup (p.Arg41fs)	HBB, LOC106099062 +1 more (R41fs)	Duplication (frameshift variant)	Hemoglobinopathy	GPathogenic
Select item 2573436	NC_000011.9:g.(5248030_5248159)_(5254322_5255220)del	HBD, HBB	Deletion	Hemoglobinopathy	GLikely pathogenic
Select item 2573434	NM_000518.5(HBB):c.15_19delinsATCTT (p.Pro6_Glu7delinsSerTer)	HBB, LOC106099062 +1 more	Indel (nonsense)	Hemoglobinopathy	GPathogenic
Select item 1098798	NM_000518.5(HBB):c.126dup (p.Phe43fs)	HBB, LOC106099062 +1 more (F43fs)	Duplication (frameshift variant)	Hemoglobinopathy	GLikely pathogenic
Select item 996224	NC_000011.9:g.(?_5246695)_(5255713_?)del	HBB, HBD	Deletion	Hemoglobinopathy	GPathogenic
Select item 928758	NM_000518.5(HBB):c.396_397del (p.Lys133fs)	LOC107133510, HBB +1 more (K133fs)	Deletion (frameshift variant)	Hemoglobinopathy	GLikely pathogenic
Select item 869338	NM_000518.5(HBB):c.138del (p.Phe46fs)	LOC107133510, LOC106099062 +1 more (F46fs)	Deletion (frameshift variant)	Hemoglobinopathy +1 more	GPathogenic
Select item 869297	NM_000518.5(HBB):c.129dup (p.Glu44Ter)	LOC106099062, LOC107133510 +1 more (E44*)	Duplication (nonsense)	Hemoglobinopathy	GPathogenic
Select item 869242	NM_000518.5(HBB):c.8del (p.His3fs)	HBB, LOC106099062 +1 more (H3fs)	Deletion (frameshift variant)	Hemoglobinopathy	GLikely pathogenic
Select item 633256	NM_000518.5(HBB):c.436T>A (p.Tyr146Asn)	LOC107133510, HBB +1 more (Y146N)	Single nucleotide variant (missense variant)	Hemoglobinopathy	GPathogenic
Select item 632845	NM_000518.5(HBB):c.176del (p.Pro59fs)	HBB, LOC106099062 +1 more (P59fs)	Deletion (frameshift variant)	Hemoglobinopathy +1 more	GLikely pathogenic
Select item 619685	NM_000518.5(HBB):c.292_295dup (p.Val99fs)	LOC107133510, HBB +1 more (V99fs)	Duplication (frameshift variant)	Hemoglobinopathy +1 more	GPathogenic/Likely pathogenic
Select item 599394	NM_000518.5(HBB):c.81G>C (p.Glu27Asp)	HBB, LOC106099062 +1 more (E27D)	Single nucleotide variant (missense variant)	Hemoglobinopathy	GPathogenic
Select item 552712	NM_000518.5(HBB):c.316-1G>A	HBB, LOC107133510 +1 more	Single nucleotide variant (splice acceptor variant)	Hemoglobinopathy +2 more	GPathogenic/Likely pathogenic
Select item 478897	NM_000518.5(HBB):c.70G>A (p.Val24Ile)	HBB, LOC106099062 +1 more (V24I)	Single nucleotide variant (missense variant)	Hemoglobinopathy	GPathogenic
Select item 446743	NM_000518.4(HBB):c.[295G>A;98T>A]	HBB, LOC106099062 +1 more (V99M +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN MEDICINE LAKE	Gother
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 439167	NM_000518.5(HBB):c.93-2A>C	LOC107133510, HBB +1 more	Single nucleotide variant (splice acceptor variant)	Hemoglobinopathy +1 more	GPathogenic
Select item 439161	NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?)	LOC110006319, HBB +1 more	Duplication (frameshift variant +1 more)	Beta-thalassemia HBB/LCRB +2 more	GConflicting classifications of pathogenicity
Select item 439140	NM_000518.5(HBB):c.1A>G (p.Met1Val)	HBB, LOC106099062 +1 more (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 393702	NM_000518.5(HBB):c.-29G>A	HBB, LOC106099062 +1 more	Single nucleotide variant (5 prime UTR variant)	Hemoglobinopathy +1 more	GPathogenic
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 38659	NM_000518.5(HBB):c.155del (p.Pro52fs)	LOC107133510, HBB +1 more (P52fs)	Deletion (frameshift variant)	Hemoglobinopathy +1 more	GPathogenic
Select item 38650	NM_000518.5(HBB):c.79G>T (p.Glu27Ter)	HBB, LOC106099062 +1 more (E27*)	Single nucleotide variant (nonsense)	Hemoglobinopathy +2 more	GPathogenic
Select item 15545	NM_000518.4(HBB):c.422C>T (p.Ala141Val)	HBB, LOC107133510 +1 more (A141V)	Single nucleotide variant (missense variant)	Hemoglobinopathy	GPathogenic
Select item 15526	NM_000518.5(HBB):c.347C>A (p.Ala116Asp)	HBB, LOC107133510 +1 more (A116D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 15494	NM_000518.4(HBB):c.277C>A (p.His93Asn)	HBB, LOC106099062 +1 more (H93N)	Single nucleotide variant (missense variant)	Hemoglobinopathy	GPathogenic
Select item 15488	NM_000518.5(HBB):c.*111A>G	LOC110006319, HBB +1 more	Single nucleotide variant (3 prime UTR variant)	Hemoglobinopathy +1 more	GPathogenic
Select item 15483	NM_000518.5(HBB):c.380T>G (p.Val127Gly)	HBB, LOC107133510 +1 more (V127G)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 15460	NM_000518.5(HBB):c.-138C>T	LOC107133510, HBB +1 more	Single nucleotide variant	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 15445	NM_000518.5(HBB):c.76_92+27del	HBB, LOC107133510 +1 more	Deletion (splice donor variant)	Hemoglobinopathy	GLikely pathogenic
Select item 15432	NM_000518.5(HBB):c.85dup (p.Leu29fs)	LOC107133510, HBB +1 more (L29fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
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 15426	NM_000518.5(HBB):c.45dup (p.Trp16fs)	LOC106099062, LOC107133510 +1 more (W16fs)	Duplication (frameshift variant)	Hemoglobinopathy +1 more	GPathogenic
Select item 15423	NM_000518.5(HBB):c.36del (p.Thr13fs)	HBB, LOC106099062 +1 more (T13fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 15414	NM_000518.5(HBB):c.51del (p.Lys18fs)	LOC106099062, LOC107133510 +1 more (K18fs)	Deletion (frameshift variant)	Beta-thalassemia HBB/LCRB +13 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 15405	NM_000518.5(HBB):c.114G>A (p.Trp38Ter)	HBB, LOC106099062 +1 more (W38*)	Single nucleotide variant (nonsense)	not specified +3 more	GPathogenic/Likely pathogenic
Select item 15400	NM_000518.4(HBB):c.191A>G (p.His64Arg)	HBB, LOC106099062 +1 more (H64R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 15398	NM_000518.5(HBB):c.176C>G (p.Pro59Arg)	LOC106099062, LOC107133510 +1 more (P59R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 15342	NM_000518.5(HBB):c.328G>A (p.Val110Met)	LOC107133510, LOC110006319 +1 more (V110M)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 15311	NM_000518.5(HBB):c.273G>C (p.Glu91Asp)	HBB, LOC106099062 +1 more (E91D)	Single nucleotide variant (missense variant)	Hemoglobinopathy	GPathogenic
Select item 15290	NM_000518.5(HBB):c.404T>A (p.Val135Glu)	HBB, LOC107133510 +1 more (V135E)	Single nucleotide variant (missense variant)	Hemoglobinopathy	GPathogenic
Select item 15245	NM_000518.5(HBB):c.389C>T (p.Ala130Val)	HBB, LOC110006319 +1 more (A130V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 15241	NM_000518.5(HBB):c.295G>A (p.Val99Met)	HBB, LOC106099062 +1 more (V99M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 15238	NM_000518.4(HBB):c.374C>G (p.Pro125Arg)	HBB, LOC107133510 +1 more (P125R)	Single nucleotide variant (missense variant)	Hemoglobinopathy	GLikely pathogenic
Select item 15206	NM_000518.5(HBB):c.199A>G (p.Lys67Glu)	LOC106099062, LOC107133510 +1 more (K67E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 15183	NM_000518.4(HBB):c.86T>C (p.Leu29Pro)	HBB, LOC106099062 +1 more (L29P)	Single nucleotide variant (missense variant)	Hemoglobinopathy	GPathogenic
Select item 15166	NM_000518.5(HBB):c.71_73del (p.Val24del)	HBB, LOC106099062 +1 more (V24del)	Deletion (inframe_deletion)	Hemoglobinopathy	GPathogenic
Select item 15122	NM_000518.5(HBB):c.257T>C (p.Phe86Ser)	LOC106099062, HBB +1 more (F86S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 15121	NM_000518.5(HBB):c.127_129del (p.Phe43del)	HBB, LOC106099062 +1 more (F43del)	Deletion (inframe_deletion)	not provided	GUncertain significance

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Items: 55