Related gene-specific medical variations for Gene (Select 3039) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 285

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3036580	NM_000558.5(HBA1):c.*1G>A	HBA1, LOC106804613	Single nucleotide variant (3 prime UTR variant)	HBA1-related condition	GLikely benign
Select item 3029547	NM_000558.5(HBA1):c.319C>T (p.Leu107=)	HBA1, LOC106804613	Single nucleotide variant (synonymous variant)	HBA1-related condition	GLikely benign
Select item 2920937	NM_000558.5(HBA1):c.326C>T (p.Thr109Ile)	HBA1, LOC106804613 (T109I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920892	NM_000558.5(HBA1):c.96-2A>G	HBA1, LOC106804613	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2775409	NM_000558.5(HBA1):c.*79C>A	HBA1, LOC106804613	Single nucleotide variant (3 prime UTR variant)	Thalassemia	GUncertain significance
Select item 2681961	NM_000558.5(HBA1):c.95+1G>A	HBA1, LOC106804613	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2681960	NM_000558.5(HBA1):c.69C>T (p.Gly23=)	HBA1, LOC106804613	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2681959	NM_000558.5(HBA1):c.300+42T>C	HBA1, LOC106804613	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2681958	NM_000558.5(HBA1):c.181A>C (p.Lys61Gln)	HBA1, LOC106804613 (K61Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663837	NM_000558.5(HBA1):c.-37A>C	LOC106804613, HBA1	Single nucleotide variant (5 prime UTR variant)	alpha Thalassemia	GUncertain significance
Select item 2645774	NM_000558.5(HBA1):c.-15C>G	HBA1, LOC106804613	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2637483	NM_000558.5(HBA1):c.-3_-2del	HBA1, LOC106804613	Deletion (5 prime UTR variant)	not specified	GUncertain significance
Select item 2581599	NM_000558.5(HBA1):c.142G>C (p.Asp48His)	HBA1, LOC106804613 (D48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2502312	NM_000558.5(HBA1):c.300+1G>A	HBA1, LOC106804613	Single nucleotide variant (splice donor variant)	Erythrocytosis, familial, 7	GLikely pathogenic
Select item 2428746	NM_000558.5(HBA1):c.95+9C>T	HBA1, LOC106804613	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2428673	NM_000558.5(HBA1):c.1A>G (p.Met1Val)	HBA1, LOC106804613 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2428629	NM_000558.5(HBA1):c.417C>G (p.Ser139=)	HBA1, LOC106804613	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2428618	NM_000558.5(HBA1):c.397G>A (p.Val133Met)	HBA1, LOC106804613 (V133M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2428550	NM_000558.5(HBA1):c.62_63insT (p.Ala22fs)	HBA1, LOC106804613 (A22fs)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 2428547	NM_000558.5(HBA1):c.237C>A (p.Asn79Lys)	LOC106804613, HBA1 (N79K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2263512	NM_000558.5(HBA1):c.296T>A (p.Phe99Tyr)	HBA1, LOC106804613 (F99Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809522	NM_000558.5(HBA1):c.264C>G (p.His88Gln)	HBA1, LOC106804613 (H88Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1679446	NM_000558.5(HBA1):c.255C>A (p.Ser85Arg)	HBA1, LOC106804613 (S85R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1331033	NM_000558.5(HBA1):c.328del (p.Leu110fs)	HBA1, LOC106804613 (L110fs)	Deletion (frameshift variant)	Erythrocytosis, familial, 7 +5 more	GPathogenic/Likely pathogenic
Select item 1330840	NM_000558.5(HBA1):c.186G>T (p.Lys62Asn)	HBA1, LOC106804613 (K62N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330794	NM_000558.5(HBA1):c.98T>A (p.Met33Lys)	HBA1, LOC106804613 (M33K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1330740	NM_000558.5(HBA1):c.309C>A (p.Ser103Arg)	HBA1, LOC106804613 (S103R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1330688	NM_000558.5(HBA1):c.326C>A (p.Thr109Asn)	HBA1, LOC106804613 (T109N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1330144	NM_000558.5(HBA1):c.181AAG[1] (p.Lys62del)	HBA1, LOC106804613 (K62del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1330135	NM_000558.5(HBA1):c.62A>C (p.His21Pro)	HBA1, LOC106804613 (H21P)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1323050	NM_000558.5(HBA1):c.358_362del (p.Pro120fs)	HBA1, LOC106804613 (P120fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 995656	NM_000558.5(HBA1):c.300+1G>T	HBA1, LOC106804613	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 994429	NM_000558.5(HBA1):c.95+38C>T	LOC106804613, HBA1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 994421	NM_000558.5(HBA1):c.256G>C (p.Asp86His)	HBA1, LOC106804613 (D86H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994077	NM_000558.5(HBA1):c.300+47C>A	LOC106804613, HBA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 993935	NM_000558.5(HBA1):c.416C>G (p.Ser139Cys)	HBA1, LOC106804613 (S139C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993656	NM_000558.5(HBA1):c.19G>C (p.Asp7His)	HBA1, LOC106804613 (D7H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993413	NM_000558.5(HBA1):c.301-49C>T	LOC106804613, HBA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 993069	NM_000558.5(HBA1):c.95+5G>A	LOC106804613, HBA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 993068	NM_000558.5(HBA1):c.337_351dup (p.His113_Glu117dup)	HBA1, LOC106804613	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 993067	NM_000558.5(HBA1):c.301-31_301-24delinsG	HBA1, LOC106804613	Indel (intron 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 993065	NM_000558.5(HBA1):c.*45C>G	HBA1, LOC106804613	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
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 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 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 869325	NM_000558.5(HBA1):c.396dup (p.Val133fs)	HBA1, LOC106804613 (V133fs)	Duplication (frameshift variant)	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	HBA1, HBA2	Deletion	alpha Thalassemia	GPathogenic
Select item 812042	NM_000558.5(HBA1):c.19_21del (p.Asp7del)	LOC106804613, HBA1 (D7del)	Deletion (inframe_deletion)	not specified	GUncertain significance
Select item 811900	NM_000558.5(HBA1):c.358C>T (p.Pro120Ser)	HBA1, LOC106804613 (P120S)	Single nucleotide variant (missense variant)	Heinz body anemia +5 more	GPathogenic
Select item 811820	NM_000558.5(HBA1):c.45G>A (p.Trp15Ter)	HBA1, LOC106804613 (W15*)	Single nucleotide variant (nonsense)	not specified +1 more	GPathogenic
Select item 811635	NM_000558.5(HBA1):c.63C>A (p.His21Gln)	HBA1, LOC106804613 (H21Q)	Single nucleotide variant (missense variant)	not provided	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 +1 more	GLikely benign
Select item 801169	NM_000558.5(HBA1):c.96-1G>A	LOC106804613, HBA1	Single nucleotide variant (splice acceptor variant)	Heinz body anemia +6 more	GPathogenic/Likely pathogenic
Select item 801168	NM_000558.5(HBA1):c.95+41G>T	HBA1, LOC106804613	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 801167	NM_000558.5(HBA1):c.94_95del (p.Arg32fs)	HBA1, LOC106804613 (R32fs)	Microsatellite (frameshift variant)	alpha Thalassemia +5 more	GPathogenic
Select item 801166	NM_000558.5(HBA1):c.413C>T (p.Thr138Ile)	HBA1, LOC106804613 (T138I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 801165	NM_000558.5(HBA1):c.365T>A (p.Val122Glu)	HBA1, LOC106804613 (V122E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 801164	NM_000558.5(HBA1):c.335C>T (p.Ala112Val)	HBA1, LOC106804613 (A112V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 801163	NM_000558.5(HBA1):c.223GAC[1] (p.Asp76del)	LOC106804613, HBA1 (D76del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 801162	NM_000558.5(HBA1):c.146T>C (p.Leu49Pro)	HBA1, LOC106804613 (L49P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 788899	NM_000558.5(HBA1):c.250C>T (p.Leu84=)	HBA1, LOC106804613	Single nucleotide variant (synonymous variant)	HBA1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 665057	NC_000016.10:g.(?_176717)_(177411_?)del	HBA1, LOC106804613	Deletion	not provided	GPathogenic
Select item 619845	NM_000558.5(HBA1):c.55G>A (p.Gly19Ser)	HBA1, LOC106804613 (G19S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 619842	NM_000558.5(HBA1):c.237del (p.Asn79fs)	HBA1, LOC106804613 (N79fs)	Deletion (frameshift variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 619840	NM_000558.5(HBA1):c.178G>A (p.Gly60Ser)	HBA1, LOC106804613 (G60S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618155	NM_000558.5(HBA1):c.47G>A (p.Gly16Asp)	HBA1, LOC106804613 (G16D)	Single nucleotide variant (missense variant)	not provided	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 439768	NM_000558.5(HBA1):c.300+55G>T	LOC106804613, HBA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 439106	NM_000558.5(HBA1):c.95+39C>T	HBA1, LOC106804613	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 439103	NM_000558.5(HBA1):c.43T>C (p.Trp15Arg)	HBA1, LOC106804613 (W15R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 439101	NM_000558.5(HBA1):c.396T>C (p.Ser132=)	HBA1, LOC106804613	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 439100	NM_000558.5(HBA1):c.353_355dup (p.Phe118_Thr119insIle)	HBA1, LOC106804613	Duplication (inframe_insertion)	not provided	GLikely benign
Select item 439099	NM_000558.5(HBA1):c.332C>T (p.Ala111Val)	HBA1, LOC106804613 (A111V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 439098	NM_000558.5(HBA1):c.301-19G>A	HBA1, LOC106804613	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 439097	NM_000558.5(HBA1):c.301-17C>A	HBA1, LOC106804613	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 439096	NM_000558.5(HBA1):c.-24C>G	HBA1, LOC106804613	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 439095	NM_000558.5(HBA1):c.207C>G (p.Asn69Lys)	LOC106804613, HBA1 (N69K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 439094	NM_000558.5(HBA1):c.*46C>A	HBA1, LOC106804613	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign/Likely benign
Select item 375748	NM_000558.5(HBA1):c.207C>A (p.Asn69Lys)	HBA1, LOC106804613 (N69K)	Single nucleotide variant (missense variant)	alpha Thalassemia	Gnot provided
Select item 242709	NM_000558.3(HBA1):c.239C>G (p.Ala80Gly)	HBA1, LOC106804613 (A80G)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 143223	NM_000558.5(HBA1):c.198_209dup (p.Leu67_Ala70dup)	HBA1, LOC106804613	Duplication (inframe_insertion)	not provided	Gnot provided
Select item 15893	NM_000558.5(HBA1):c.262C>A (p.His88Asn)	HBA1, LOC106804613 (H88N)	Single nucleotide variant (missense variant)	HEMOGLOBIN AUCKLAND	Gother
Select item 15891	NC_000016.10:g.159710T>C	HBA1	Single nucleotide variant	HEMOGLOBIN LAMEN ISLAND	Gother
Select item 15890	NM_000558.3(HBA1):c.313T>A (p.Cys105Ser)	HBA1, LOC106804613 (C105S)	Single nucleotide variant (missense variant)	HEMOGLOBIN OEGSTGEEST	Gother
Select item 15889	NM_000558.3(HBA1):c.154G>A (p.Gly52Ser)	HBA1, LOC106804613 (G52S)	Single nucleotide variant (missense variant)	HBA1-related condition +1 more	GLikely benign
Select item 15888	NM_000558.3(HBA1):c.269A>G (p.His90Arg)	HBA1, LOC106804613 (H90R)	Single nucleotide variant (missense variant)	HEMOGLOBIN TAMANO	Gother
Select item 15887	NM_000558.3(HBA1):c.269A>C (p.His90Pro)	HBA1, LOC106804613 (H90P)	Single nucleotide variant (missense variant)	HEMOGLOBIN TOKYO	Gother

<< First< Prev

Page of 3