ClinVar for MedGen (Select 2611) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336287	NM_000518.5(HBB):c.327C>G (p.Asn109Lys)	HBB, LOC107133510 +1 more (N109K)	Single nucleotide variant (missense variant)	beta Thalassemia	GLikely pathogenic
Select item 3068890	NC_000011.9:g.(?_5246693)_(5246957_5247806)del	HBB	Deletion	beta Thalassemia	GPathogenic
Select item 2506212	NM_000518.4(HBB):c.-136C>A	HBB, LOC106099062 +1 more	Single nucleotide variant	beta Thalassemia	GLikely pathogenic
Select item 1687315	NM_000518.5(HBB):c.269del (p.Ser90fs)	HBB, LOC106099062 +1 more (S90fs)	Deletion (frameshift variant)	beta Thalassemia	GLikely pathogenic
Select item 1527857	NM_000518.5(HBB):c.72T>A (p.Val24=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	beta Thalassemia	Gnot provided
Select item 1459872	NM_000518.5(HBB):c.380_396del (p.Val127fs)	HBB, LOC107133510 +1 more (V127fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1217240	NM_000518.5(HBB):c.241A>T (p.Asn81Tyr)	HBB, LOC106099062 +1 more (N81Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1083541	NM_000518.5(HBB):c.60C>T (p.Asn20=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1065151	NM_000518.5(HBB):c.233_234del (p.His78fs)	LOC107133510, HBB +1 more (H78fs)	Deletion (frameshift variant)	Beta-thalassemia HBB/LCRB +1 more	GLikely pathogenic
Select item 1048666	NC_000011.10:g.5224303_5227790del	HBB, LOC106099062 +2 more	Deletion	beta Thalassemia	GPathogenic
Select item 995801	NM_000518.5(HBB):c.40G>A (p.Ala14Thr)	LOC106099062, LOC107133510 +1 more (A14T)	Single nucleotide variant (missense variant)	beta Thalassemia	GBenign
Select item 995800	NM_000518.5(HBB):c.373C>A (p.Pro125Thr)	LOC107133510, LOC110006319 +1 more (P125T)	Single nucleotide variant (missense variant)	beta Thalassemia	GBenign
Select item 991116	NM_000518.5(HBB):c.237G>C (p.Leu79=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	beta Thalassemia	GUncertain significance
Select item 991115	NM_000518.5(HBB):c.387T>A (p.Ala129=)	HBB, LOC107133510 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 984497	NC_000011.9:g.(5246957_5247806)_(5248302_?)del	HBB	Deletion	beta Thalassemia	GPathogenic
Select item 982009	NC_000011.10:g.(?_5225465)_(5227072_?)del	HBB	Deletion	beta Thalassemia	GPathogenic
Select item 928761	NM_000518.5(HBB):c.167T>C (p.Met56Thr)	HBB, LOC106099062 +1 more (M56T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 918087	NM_000518.5(HBB):c.-4C>T	LOC107133510, HBB +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 879840	NM_000518.5(HBB):c.85C>T (p.Leu29=)	HBB, LOC106099062 +1 more	Single nucleotide variant (synonymous variant)	not provided +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)	beta Thalassemia +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)	Fetal hemoglobin quantitative trait locus 1 +3 more	GUncertain significance
Select item 869363	NM_000518.5(HBB):c.78dup (p.Glu27Ter)	HBB, LOC106099062 +1 more (E27*)	Duplication (nonsense)	not provided	GPathogenic
Select item 869362	NM_000518.5(HBB):c.74delinsCAC (p.Gly25fs)	HBB, LOC106099062 +1 more (G25fs)	Indel (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869361	NM_000518.5(HBB):c.74del (p.Gly25fs)	HBB, LOC106099062 +1 more (G25fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 869360	NM_000518.5(HBB):c.68_74del (p.Glu23fs)	HBB, LOC106099062 +1 more (E23fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 869359	NM_000518.5(HBB):c.67G>T (p.Glu23Ter)	HBB, LOC106099062 +1 more (E23*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 869358	NM_000518.5(HBB):c.50dup (p.Lys18fs)	HBB, LOC106099062 +1 more (K18fs)	Duplication (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869357	NM_000518.5(HBB):c.50del (p.Gly17fs)	HBB, LOC106099062 +1 more (G17fs)	Deletion (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869356	NM_000518.5(HBB):c.315+5G>C	HBB, LOC106099062 +2 more	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 869355	NM_000518.5(HBB):c.315+2T>C	HBB, LOC106099062 +2 more	Single nucleotide variant (splice donor variant)	beta Thalassemia	GPathogenic
Select item 869354	NM_000518.5(HBB):c.315+255T>C	HBB, LOC107133510 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 869353	NM_000518.5(HBB):c.315+1del	LOC110006319, HBB +2 more	Deletion (splice donor variant)	beta Thalassemia	GPathogenic
Select item 869352	NM_000518.5(HBB):c.30dup (p.Ala11fs)	HBB, LOC106099062 +1 more (A11fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 869351	NM_000518.5(HBB):c.301_302delinsTCTGAGAACTT (p.Pro101delinsSerGluAsnPhe)	HBB, LOC106099062 +2 more	Indel (inframe_indel)	beta Thalassemia	GPathogenic
Select item 869350	NM_000518.5(HBB):c.28_29insTA (p.Ser10fs)	HBB, LOC106099062 +1 more (S10fs)	Insertion (frameshift variant)	beta Thalassemia +1 more	GPathogenic
Select item 869349	NM_000518.5(HBB):c.166dup (p.Met56fs)	HBB, LOC106099062 +1 more (M56fs)	Duplication (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869348	NM_000518.5(HBB):c.166del (p.Met56fs)	HBB, LOC106099062 +1 more (M56fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 869347	NM_000518.5(HBB):c.165del (p.Met56fs)	HBB, LOC106099062 +1 more (M56fs)	Deletion (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869346	NM_000518.5(HBB):c.165_177del (p.Met56fs)	HBB, LOC106099062 +1 more (M56fs)	Deletion (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869345	NM_000518.5(HBB):c.163dup (p.Val55fs)	HBB, LOC106099062 +1 more (V55fs)	Duplication (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869344	NM_000518.5(HBB):c.158del (p.Asp53fs)	HBB, LOC106099062 +1 more (D53fs)	Deletion (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869343	NM_000518.5(HBB):c.153del (p.Pro52fs)	HBB, LOC106099062 +1 more (P52fs)	Deletion (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869342	NM_000518.5(HBB):c.150del (p.Thr51fs)	HBB, LOC106099062 +1 more (T51fs)	Deletion (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869341	NM_000518.5(HBB):c.146del (p.Leu49fs)	HBB, LOC106099062 +1 more (L49fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 869340	NM_000518.5(HBB):c.142dup (p.Asp48fs)	LOC106099062, LOC107133510 +1 more (D48fs)	Duplication (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869339	NM_000518.5(HBB):c.138dup (p.Gly47fs)	HBB, LOC106099062 +1 more (G47fs)	Duplication (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869338	NM_000518.5(HBB):c.138del (p.Phe46fs)	HBB, LOC106099062 +1 more (F46fs)	Deletion (frameshift variant)	Dominant beta-thalassemia +1 more	GPathogenic
Select item 869331	NC_000011.10:g.5284251_5289110del	HBB, HBB-LCR	Deletion	beta Thalassemia	GPathogenic
Select item 869330	NC_000011.10:g.5227540G>A	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided	GBenign
Select item 869329	NC_000011.10:g.5227411G>A	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided	GBenign
Select item 869328	NM_000518.4(HBB):c.-138C>G	LOC106099062, LOC107133510 +1 more	Single nucleotide variant	not provided	GUncertain significance
Select item 869327	NC_000011.10:g.5227147G>T	HBB, LOC106099062 +1 more	Single nucleotide variant	beta Thalassemia	GPathogenic
Select item 869326	NM_000518.5(HBB):c.-122T>A	LOC107133510, HBB +1 more	Single nucleotide variant	not specified +1 more	GConflicting classifications of pathogenicity
Select item 869324	NM_000518.5(HBB):c.[17del;9dup]	LOC106099062, LOC107133510 +1 more (P6fs +1 more)	Deletion (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869323	NM_000518.5(HBB):c.94del (p.Leu32fs)	HBB, LOC106099062 +1 more (L32fs)	Deletion (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869322	NM_000518.5(HBB):c.92_94dup (p.Arg31dup)	HBB, LOC106099062 +1 more	Duplication (splice acceptor variant)	beta Thalassemia +1 more	GPathogenic
Select item 869321	NM_000518.5(HBB):c.93G>C (p.Arg31Ser)	HBB, LOC106099062 +1 more (R31S)	Single nucleotide variant (missense variant)	beta Thalassemia	GPathogenic
Select item 869320	NM_000518.5(HBB):c.44dup (p.Trp16fs)	HBB, LOC106099062 +1 more (W16fs)	Duplication (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869319	NM_000518.5(HBB):c.44del (p.Leu15fs)	LOC106099062, LOC107133510 +1 more (L15fs)	Deletion (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869318	NM_000518.5(HBB):c.429_430del (p.His144fs)	HBB, LOC107133510 +1 more (H144fs)	Deletion (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869317	NM_000518.5(HBB):c.417dup (p.Asn140Ter)	HBB, LOC107133510 +1 more (N140*)	Duplication (nonsense)	beta Thalassemia	GPathogenic
Select item 869316	NM_000518.5(HBB):c.3G>T (p.Met1Ile)	HBB, LOC106099062 +1 more (M1I)	Single nucleotide variant (missense variant +1 more)	beta Thalassemia	GPathogenic
Select item 869315	NM_000518.5(HBB):c.3G>C (p.Met1Ile)	HBB, LOC106099062 +1 more (M1I)	Single nucleotide variant (missense variant +1 more)	beta Thalassemia	GPathogenic
Select item 869314	NM_000518.5(HBB):c.397A>T (p.Lys133Ter)	HBB, LOC107133510 +1 more (K133*)	Single nucleotide variant (nonsense)	beta Thalassemia	GPathogenic
Select item 869313	NM_000518.5(HBB):c.[385_388delinsCCACA;397_407del]	HBB, LOC110006319 +1 more (A129fs +1 more)	Indel (frameshift variant)	Dominant beta-thalassemia +1 more	GPathogenic
Select item 869312	NM_000518.5(HBB):c.395dup (p.Lys133fs)	LOC110006319, HBB +1 more (K133fs)	Duplication (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869311	NM_000518.5(HBB):c.394C>T (p.Gln132Ter)	HBB, LOC107133510 +1 more (Q132*)	Single nucleotide variant (nonsense)	beta Thalassemia	GPathogenic
Select item 869310	NM_000518.5(HBB):c.275dup (p.His93fs)	HBB, LOC106099062 +1 more (H93fs)	Duplication (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869309	NM_000518.5(HBB):c.272_295dup (p.Glu91_His98dup)	HBB, LOC106099062 +1 more	Duplication (inframe_insertion)	beta Thalassemia	GPathogenic
Select item 869308	NM_000518.5(HBB):c.270_271del (p.Ser90fs)	LOC106099062, LOC107133510 +1 more (S90fs)	Deletion (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869307	NM_000518.5(HBB):c.27_28insAGAA (p.Ser10fs)	HBB, LOC106099062 +1 more (S10fs)	Insertion (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869306	NM_000518.5(HBB):c.266dup (p.Ser90fs)	HBB, LOC106099062 +1 more (S90fs)	Duplication (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869305	NM_000518.5(HBB):c.266_267del (p.Leu89fs)	HBB, LOC106099062 +1 more (L89fs)	Deletion (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869304	NM_000518.5(HBB):c.265_266del (p.Leu89fs)	HBB, LOC106099062 +1 more (L89fs)	Deletion (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869303	NM_000518.5(HBB):c.258dup (p.Ala87fs)	HBB, LOC106099062 +1 more (A87fs)	Duplication (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869302	NM_000518.5(HBB):c.255dup (p.Phe86fs)	HBB, LOC106099062 +1 more (F86fs)	Duplication (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869301	NM_000518.5(HBB):c.253_260del (p.Thr85fs)	HBB, LOC106099062 +1 more (T85fs)	Deletion (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869300	NM_000518.5(HBB):c.24dup (p.Lys9fs)	HBB, LOC106099062 +1 more (K9fs)	Duplication (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869299	NM_000518.5(HBB):c.244del (p.Leu82fs)	HBB, LOC106099062 +1 more (L82fs)	Deletion (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869298	NM_000518.5(HBB):c.130dup (p.Glu44fs)	HBB, LOC106099062 +1 more (E44fs)	Duplication (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869297	NM_000518.5(HBB):c.129dup (p.Glu44Ter)	LOC106099062, LOC107133510 +1 more (E44*)	Duplication (nonsense)	Hemoglobinopathy	GPathogenic
Select item 869296	NM_000518.5(HBB):c.129del (p.Phe43fs)	HBB, LOC106099062 +1 more (F43fs)	Deletion (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869295	NM_000518.5(HBB):c.125dup (p.Phe43fs)	HBB, LOC106099062 +1 more (F43fs)	Duplication (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869294	NM_000518.5(HBB):c.123del (p.Arg41fs)	HBB, LOC106099062 +1 more (R41fs)	Deletion (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869293	NM_000518.5(HBB):c.11dup (p.Thr5fs)	HBB, LOC106099062 +1 more (T5fs)	Duplication (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869292	NM_000518.5(HBB):c.118del (p.Gln40fs)	LOC106099062, LOC107133510 +1 more (Q40fs)	Deletion (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869291	NC_000011.10:g.5227131_5227256del	HBB, LOC106099062 +1 more	Deletion	beta Thalassemia	GPathogenic
Select item 869290	NM_000518.5(HBB):c.-80T>C	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided +1 more	GPathogenic
Select item 869289	NC_000011.10:g.5227101A>C	HBB, LOC106099062 +1 more	Single nucleotide variant	beta Thalassemia	GPathogenic
Select item 869288	NM_000518.4(HBB):c.-79A>C	HBB, LOC106099062 +1 more	Single nucleotide variant	not provided	GPathogenic
Select item 869287	NC_000011.10:g.5227098T>A	HBB, LOC106099062 +1 more	Single nucleotide variant	beta Thalassemia	GPathogenic
Select item 869286	NC_000011.10:g.5227097T>G	HBB, LOC106099062 +1 more	Single nucleotide variant	beta Thalassemia	GPathogenic
Select item 869285	NM_000518.5(HBB):c.378del (p.Val127fs)	HBB, LOC107133510 +1 more (V127fs)	Deletion (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869284	NM_000518.5(HBB):c.375dup (p.Pro126fs)	HBB, LOC107133510 +1 more (P126fs)	Duplication (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869283	NM_000518.5(HBB):c.354del (p.Phe119fs)	LOC110006319, HBB +1 more (F119fs)	Deletion (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869282	NM_000518.5(HBB):c.349_350insTGAT (p.His117fs)	HBB, LOC107133510 +1 more (H117fs)	Insertion (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869281	NM_000518.5(HBB):c.33del (p.Val12fs)	LOC107133510, HBB +1 more (V12fs)	Deletion (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869280	NM_000518.5(HBB):c.339T>A (p.Cys113Ter)	HBB, LOC107133510 +1 more (C113*)	Single nucleotide variant (nonsense)	beta Thalassemia	GPathogenic
Select item 869279	NM_000518.5(HBB):c.339_345dup (p.Ala116fs)	HBB, LOC107133510 +1 more (A116fs)	Duplication (frameshift variant)	beta Thalassemia	GPathogenic
Select item 869278	NM_000518.5(HBB):c.319C>G (p.Leu107Val)	HBB, LOC107133510 +1 more (L107V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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