ClinVar for Gene (Select 3039) - ClinVar - NCBI

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	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 3061801	NM_000558.4(HBA1):c.-286C>G	HBA1, LOC106804613	Single nucleotide variant	alpha Thalassemia	GUncertain significance
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 2685537	GRCh37/hg19 16p13.3(chr16:85881-470832)x1	ARHGDIG, AXIN1 +18 more	Copy number loss	not provided	GUncertain significance
Select item 2685536	GRCh37/hg19 16p13.3(chr16:85881-1657611)x1	PRR35, ANTKMT +65 more	Copy number loss	not provided	GPathogenic
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 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 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 2423327	NC_000016.9:g.(?_222912)_(226810_?)del	HBA1, HBA2	Deletion	not provided	GPathogenic
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 1809509	GRCh37/hg19 16p13.3(chr16:204932-313258)x3	FAM234A, HBA1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808731	GRCh37/hg19 16p13.3(chr16:85881-1350186)x1	ANTKMT, ARHGDIG +53 more	Copy number loss	not provided	GPathogenic
Select item 1808170	GRCh37/hg19 16p13.3(chr16:106989-293949)x1	FAM234A, HBA1 +9 more	Copy number loss	not provided	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
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 1526481	GRCh37/hg19 16p13.3(chr16:85880-1468828)	ANTKMT, MRPL28 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526480	GRCh37/hg19 16p13.3(chr16:85880-754083)	WDR90, WFIKKN1 +34 more	Copy number loss	not specified	GPathogenic
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 1330062	NM_000517.6(HBA2):c.294C>A (p.Asn98Lys)	LOC106804612, HBA1 +1 more (N98K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328438	GRCh37/hg19 16p13.3(chr16:212275-234987)x1	HBA1, HBA2 +2 more	Copy number loss	not provided	GPathogenic
Select item 1323050	NM_000558.5(HBA1):c.358_362del (p.Pro120fs)	HBA1, LOC106804613 (P120fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1226713	NC_000016.10:g.176440C>T	HBA1, LOC106804613	Single nucleotide variant	not provided	GBenign
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	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 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
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 869220	NC_000016.10:g.176177_176301del	HBA1, LOC106804613	Deletion	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	LOC130058090, LOC130058091 +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	HBA1, HBA2	Deletion	alpha Thalassemia	GPathogenic
Select item 815768	GRCh37/hg19 16p13.3(chr16:205271-589830)x3	NME4, CAPN15 +14 more	Copy number gain	not provided	GUncertain significance
Select item 815767	GRCh37/hg19 16p13.3(chr16:106988-735154)x3	PRR35, AXIN1 +32 more	Copy number gain	not provided	GUncertain significance
Select item 815766	GRCh37/hg19 16p13.3(chr16:85880-1166355)x1	SNRNP25, C1QTNF8 +48 more	Copy number loss	not provided	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 811573	NC_000016.10:g.177694A>G	HBA1	Single nucleotide variant	not provided	GBenign
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 688348	GRCh37/hg19 16p13.3(chr16:85880-2053328)x1	ANTKMT, ARHGDIG +89 more	Copy number loss	not provided	GPathogenic

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