ClinVar for MedGen (Select 1434) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340427	NM_000517.6(HBA2):c.-181C>G	HBA2, LOC106804612	Single nucleotide variant	alpha Thalassemia	GUncertain significance
Select item 3338673	NM_000558.5(HBA1):c.98T>G (p.Met33Arg)	HBA1, LOC106804613 (M33R)	Single nucleotide variant (missense variant)	alpha Thalassemia	GLikely pathogenic
Select item 3220863	Single allele	HBA1, HBA2 +3 more	Deletion	alpha Thalassemia	GPathogenic
Select item 3075919	NM_000517.6(HBA2):c.2T>G (p.Met1Arg)	HBA2, LOC106804612 (M1R)	Single nucleotide variant (missense variant +1 more)	alpha Thalassemia	GLikely pathogenic
Select item 3075902	NM_000558.5(HBA1):c.44G>A (p.Trp15Ter)	HBA1, LOC106804613 (W15*)	Single nucleotide variant (nonsense)	alpha Thalassemia	GPathogenic
Select item 3075901	NM_000558.5(HBA1):c.99G>A (p.Met33Ile)	HBA1, LOC106804613 (M33I)	Single nucleotide variant (missense variant)	alpha Thalassemia	GLikely pathogenic
Select item 3075900	NM_000558.5(HBA1):c.60del (p.His21fs)	HBA1, LOC106804613 (H21fs)	Deletion (frameshift variant)	alpha Thalassemia	GLikely pathogenic
Select item 3061801	NM_000558.4(HBA1):c.-286C>G	HBA1, LOC106804613	Single nucleotide variant	alpha Thalassemia	GUncertain significance
Select item 2691625	NM_000517.6(HBA2):c.389T>C (p.Leu130Pro)	HBA2, LOC106804612 (L130P)	Single nucleotide variant (missense variant)	alpha Thalassemia	GPathogenic
Select item 2663837	NM_000558.5(HBA1):c.-37A>C	HBA1, LOC106804613	Single nucleotide variant (5 prime UTR variant)	alpha Thalassemia	GUncertain significance
Select item 2628369	NM_000517.6(HBA2):c.320T>G (p.Leu107Arg)	HBA2, LOC106804612 (L107R)	Single nucleotide variant (missense variant)	alpha Thalassemia	GPathogenic
Select item 2580349	GRCh37/hg19 16p13.3(chr16:215947-231157)x1	HBA1, HBA2 +2 more	Copy number loss	alpha Thalassemia	GPathogenic
Select item 2573442	NM_000558.5(HBA1):c.2T>A (p.Met1Lys)	HBA1, LOC106804613 (M1K)	Single nucleotide variant (missense variant +1 more)	alpha Thalassemia	GLikely pathogenic
Select item 2428679	NM_000517.6(HBA2):c.300+1G>A	HBA2, LOC106804612	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2413187	NM_000517.6(HBA2):c.73T>G (p.Tyr25Asp)	HBA2, LOC106804612 (Y25D)	Single nucleotide variant (missense variant)	alpha Thalassemia	GPathogenic
Select item 1698858	NM_000517.6(HBA2):c.143del (p.Asp48fs)	HBA2, LOC106804612 (D48fs)	Deletion (frameshift variant)	alpha Thalassemia	GPathogenic
Select item 1683493	NM_000517.6(HBA2):c.46G>T (p.Gly16Cys)	HBA2, LOC106804612 (G16C)	Single nucleotide variant (missense variant)	alpha Thalassemia	GLikely pathogenic
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 1331033	NM_000558.5(HBA1):c.328del (p.Leu110fs)	HBA1, LOC106804613 (L110fs)	Deletion (frameshift variant)	alpha Thalassemia +5 more	GPathogenic/Likely pathogenic
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 1267676	NM_000517.6(HBA2):c.-43G>C	HBA2, LOC106804612	Single nucleotide variant	not provided	GBenign
Select item 1177507	GRCh37/hg19 16p13.3(chr16:176680-177522)x1	NPRL3	Copy number loss	alpha Thalassemia	Gnot provided
Select item 1162201	NM_000558.5(HBA1):c.2del (p.Met1fs)	HBA1, LOC106804613 (M1fs)	Deletion (frameshift variant +1 more)	alpha Thalassemia	GLikely pathogenic
Select item 1048833	NM_000558.5(HBA1):c.95+2_95+6del	HBA1, LOC106804613	Deletion (splice donor variant)	alpha Thalassemia	GLikely pathogenic
Select item 995799	NM_000517.6(HBA2):c.54del (p.Gly19fs)	LOC106804612, HBA2 (G19fs)	Deletion (frameshift variant)	alpha Thalassemia	GPathogenic
Select item 995798	NM_000517.6(HBA2):c.95+11_95+34del	HBA2, LOC106804612	Deletion (intron variant)	not provided	GLikely benign
Select item 995797	NM_000517.6(HBA2):c.245C>T (p.Ser82Phe)	HBA2, LOC106804612 (S82F)	Single nucleotide variant (missense variant)	alpha Thalassemia	GBenign
Select item 995596	NM_000517.6(HBA2):c.70G>A (p.Glu24Lys)	HBA2, LOC106804612 (E24K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993349	NM_000558.5(HBA1):c.150C>A (p.Ser50Arg)	HBA1, LOC106804613 (S50R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993188	NM_000517.6(HBA2):c.83A>G (p.Glu28Gly)	HBA2, LOC106804612 (E28G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993066	NM_000558.5(HBA1):c.178G>C (p.Gly60Arg)	HBA1, LOC106804613 (G60R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 990365	NM_000558.5(HBA1):c.301-9T>C	HBA1, LOC106804613	Single nucleotide variant (intron variant)	alpha Thalassemia	GUncertain significance
Select item 990364	NM_000558.5(HBA1):c.257A>T (p.Asp86Val)	HBA1, LOC106804613 (D86V)	Single nucleotide variant (missense variant)	alpha Thalassemia	GUncertain significance
Select item 990363	NM_000517.6(HBA2):c.74A>G (p.Tyr25Cys)	HBA2, LOC106804612 (Y25C)	Single nucleotide variant (missense variant)	alpha Thalassemia	GUncertain significance
Select item 915293	NM_000558.5(HBA1):c.2T>G (p.Met1Arg)	HBA1, LOC106804613 (M1R)	Single nucleotide variant (missense variant +1 more)	alpha Thalassemia	GPathogenic
Select item 869337	NC_000016.10:g.151479_182582del	HBA-LCR, HBA1 +8 more	Deletion	alpha Thalassemia	GPathogenic
Select item 869336	NC_000016.10:g.150002_180002del	HBA1, HBA2 +1 more	Deletion	alpha Thalassemia	GPathogenic
Select item 869335	NC_000016.10:g.147937_179144del	HBA1, HBA2 +1 more	Deletion	alpha Thalassemia	GPathogenic
Select item 869334	NC_000016.10:g.147601_179801del	HBA1, HBA2 +1 more	Deletion	alpha Thalassemia	GPathogenic
Select item 869333	NC_000016.10:g.(169756_170100)_(179044_181595)del	HBA1, HBA2 +5 more	Deletion	alpha Thalassemia	GPathogenic
Select item 869332	NC_000016.10:g.(168531_169756)_(182770_183028)del	HBA1, HBA2 +5 more	Deletion	alpha Thalassemia	GPathogenic
Select item 869325	NM_000558.5(HBA1):c.396dup (p.Val133fs)	HBA1, LOC106804613 (V133fs)	Duplication (frameshift variant)	alpha Thalassemia	GPathogenic
Select item 869221	NM_000517.6(HBA2):c.377T>A (p.Leu126Gln)	HBA2, LOC106804612 (L126Q)	Single nucleotide variant (missense variant)	alpha Thalassemia	GPathogenic
Select item 869220	NC_000016.10:g.176177_176301del	HBA1, LOC106804613	Deletion	alpha Thalassemia	GBenign
Select item 869219	NC_000016.10:g.172832C>A	LOC106804612, HBA2	Single nucleotide variant	alpha Thalassemia	GBenign
Select item 869218	NC_000016.10:g.172001_181401del	HBA1, HBA2 +5 more	Deletion	alpha Thalassemia	GPathogenic
Select item 869217	NC_000016.10:g.171847_181556del	HBA1, LOC106804613 +5 more	Deletion	alpha Thalassemia	GPathogenic
Select item 869216	NC_000016.10:g.169197_259919delinsCACCCAGCACCCAGTACCA	HBA1, HBA2	Indel	alpha Thalassemia	GPathogenic
Select item 869215	NC_000016.10:g.158101_179001del	HBA2, HBA1	Deletion	alpha Thalassemia	GPathogenic
Select item 828096	NM_000517.6(HBA2):c.*47G>A	HBA2, LOC106804612	Single nucleotide variant (3 prime UTR variant)	alpha Thalassemia	GUncertain significance
Select item 827660	NM_000517.6(HBA2):c.-59C>T	HBA2, LOC106804612	Single nucleotide variant	not provided +4 more	GUncertain significance
Select item 811900	NM_000558.5(HBA1):c.358C>T (p.Pro120Ser)	HBA1, LOC106804613 (P120S)	Single nucleotide variant (missense variant)	alpha Thalassemia +5 more	GPathogenic
Select item 811636	NM_000517.6(HBA2):c.375C>G (p.Ser125=)	HBA2, LOC106804612	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 811318	NM_000517.6(HBA2):c.24G>T (p.Lys8Asn)	HBA2, LOC106804612 (K8N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 811183	NM_000517.6(HBA2):c.301-24delinsCTCGGCCC	HBA2, LOC106804612	Indel (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 811124	NM_000558.5(HBA1):c.198G>A (p.Ala66=)	HBA1, LOC106804613	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 804215	NM_000517.6(HBA2):c.313T>C (p.Cys105Arg)	HBA2, LOC106804612 (C105R)	Single nucleotide variant (missense variant)	alpha Thalassemia	GPathogenic/Likely pathogenic
Select item 801169	NM_000558.5(HBA1):c.96-1G>A	LOC106804613, HBA1	Single nucleotide variant (splice acceptor variant)	alpha Thalassemia +5 more	GPathogenic/Likely pathogenic
Select item 801167	NM_000558.5(HBA1):c.94_95del (p.Arg32fs)	HBA1, LOC106804613 (R32fs)	Microsatellite (frameshift variant)	not provided +5 more	GPathogenic
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 725759	NM_000517.6(HBA2):c.414C>T (p.Thr138=)	HBA2, LOC106804612	Single nucleotide variant (synonymous variant)	not specified +1 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 635430	NM_000517.6(HBA2):c.268_280del (p.His90fs)	HBA2, LOC106804612 (H90fs)	Deletion (frameshift variant)	alpha Thalassemia	GLikely pathogenic
Select item 625829	GRCh37/hg19 16p13.3(chr16:216075-231021)	HBQ1, HBA1 +2 more	Copy number loss	alpha Thalassemia	GPathogenic
Select item 625828	GRCh37/hg19 16p13.3(chr16:221962-228406)	HBA1, HBA2	Copy number loss	alpha Thalassemia	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 619842	NM_000558.5(HBA1):c.237del (p.Asn79fs)	HBA1, LOC106804613 (N79fs)	Deletion (frameshift variant)	HBA1-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 618674	NM_000517.6(HBA2):c.75T>G (p.Tyr25Ter)	HBA2, LOC106804612 (Y25*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 618158	NM_000517.6(HBA2):c.98T>G (p.Met33Arg)	HBA2, LOC106804612 (M33R)	Single nucleotide variant (missense variant)	alpha Thalassemia +2 more	GConflicting classifications of pathogenicity
Select item 618153	NM_000558.5(HBA1):c.187del (p.Val63fs)	HBA1, LOC106804613 (V63fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 487448	NC_000016.10:g.(?_169780)_(182142_?)del	HBA1, HBA2 +5 more	Deletion	alpha Thalassemia	GPathogenic
Select item 487442	NC_000016.10:g.(?_151209)_(182142_?)del	HBA-LCR, HBA1 +8 more	Deletion	alpha Thalassemia	GPathogenic
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]	LOC106099062, LOC107133510 +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]	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]	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]	HBB, LOC106099062 +1 more (E7K +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN ARLINGTON PARK	Gother
Select item 439772	NM_000517.6(HBA2):c.93_94del	LOC106804612, HBA2	Deletion (3 prime UTR variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 439771	NM_000517.6(HBA2):c.369C>G (p.His123Gln)	HBA1, HBA2 +1 more (H123Q)	Single nucleotide variant (missense variant)	Heinz body anemia +4 more	GUncertain significance
Select item 439769	NM_000517.6(HBA2):c.300+55T>G	HBA2, LOC106804612	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 439768	NM_000558.5(HBA1):c.300+55G>T	HBA1, LOC106804613	Single nucleotide variant (intron variant)	not provided	GBenign
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 439126	NM_000517.6(HBA2):c.95+1G>A	HBA2, LOC106804612	Single nucleotide variant (splice donor variant)	not specified +1 more	GPathogenic
Select item 439123	NM_000517.6(HBA2):c.69del (p.Glu24fs)	HBA2, LOC106804612 (E24fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 439121	NM_000517.6(HBA2):c.45G>C (p.Trp15Cys)	HBA2, LOC106804612 (W15C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 439113	NM_000517.6(HBA2):c.-24C>G	HBA2, LOC106804612	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 439112	NM_000517.6(HBA2):c.179G>A (p.Gly60Asp)	HBA2, LOC106804612 (G60D)	Single nucleotide variant (missense variant)	Non-immune hydrops fetalis +2 more	GPathogenic
Select item 439108	NM_000517.6(HBA2):c.*107A>G	HBA2, LOC106804612	Single nucleotide variant (3 prime UTR variant)	alpha Thalassemia +3 more	GBenign
Select item 439106	NM_000558.5(HBA1):c.95+39C>T	HBA1, LOC106804613	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 439103	NM_000558.5(HBA1):c.43T>C (p.Trp15Arg)	HBA1, LOC106804613 (W15R)	Single nucleotide variant (missense variant)	alpha Thalassemia +1 more	GPathogenic/Likely pathogenic
Select item 439102	NM_000558.5(HBA1):c.-42C>T	HBA1, LOC106804613	Single nucleotide variant	not provided	GBenign/Likely benign
Select item 439101	NM_000558.5(HBA1):c.396T>C (p.Ser132=)	HBA1, LOC106804613	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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