HBA2[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 342

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59410	GRCh38/hg38 16p13.3(chr16:23141-1712523)x1	ANTKMT, ARHGDIG +194 more	Copy number loss	See cases	GPathogenic
Select item 59409	GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	ANTKMT, ARHGDIG +210 more	Copy number loss	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 155642	GRCh38/hg38 16p13.3(chr16:35880-605262)x1	ARHGDIG, AXIN1 +59 more	Copy number loss	See cases	GUncertain significance
Select item 152889	GRCh38/hg38 16p13.3(chr16:43722-308914)x3	ARHGDIG, AXIN1 +26 more	Copy number gain	See cases	GUncertain significance
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 148917	GRCh38/hg38 16p13.3(chr16:46766-882211)x1	NHLRC4, NME4 +119 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 145576	GRCh38/hg38 16p13.3(chr16:46766-1544014)x1	ANTKMT, ARHGDIG +179 more	Copy number loss	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	LOC105371046, LOC105371050 +842 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 152879	GRCh38/hg38 16p13.3(chr16:59980-1221651)x1	ANTKMT, ARHGDIG +130 more	Copy number loss	See cases	GPathogenic
Select item 59425	GRCh38/hg38 16p13.3(chr16:105429-1499893)x1	ANTKMT, ARHGDIG +164 more	Copy number loss	See cases	GPathogenic
Select item 487442	NC_000016.10:g.(?_151209)_(182142_?)del	HBA-LCR, HBA1 +8 more	Deletion	alpha Thalassemia	GPathogenic
Select item 869337	NC_000016.10:g.151479_182582del	HBA-LCR, HBA1 +8 more	Deletion	alpha Thalassemia	GPathogenic
Select item 38635	NM_005332.2(HBZ):c.330_*22601del	HBZ, LOC106804612 +4 more	Deletion	alpha Thalassemia	GPathogenic
Select item 38633	NG_000006.1:g.24664_41064del16401	HBA2, HBM +3 more	Deletion	alpha Thalassemia	GPathogenic
Select item 155184	GRCh38/hg38 16p13.3(chr16:165236-182113)x1	HBA1, HBA2 +6 more	Copy number loss	See cases	GLikely benign
Select item 148784	GRCh38/hg38 16p13.3(chr16:165236-180300)x1	HBA1, HBA2 +3 more	Copy number loss	See cases	GUncertain significance
Select item 149973	GRCh38/hg38 16p13.3(chr16:165500-183438)x1	HBA1, HBA2 +6 more	Copy number loss	See cases	GPathogenic
Select item 148582	GRCh38/hg38 16p13.3(chr16:165500-184338)x1	HBA1, HBA2 +6 more	Copy number loss	See cases	GPathogenic
Select item 144587	GRCh38/hg38 16p13.3(chr16:165675-182685)x1	HBA1, HBA2 +6 more	Copy number loss	See cases	GPathogenic
Select item 57278	GRCh38/hg38 16p13.3(chr16:165725-180586)x1	HBA1, HBA2 +4 more	Copy number loss	See cases	GPathogenic
Select item 869332	NC_000016.10:g.(168531_169756)_(182770_183028)del	HBA1, HBA2 +5 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 487448	NC_000016.10:g.(?_169780)_(182142_?)del	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 869218	NC_000016.10:g.172001_181401del	HBA1, HBA2 +5 more	Deletion	alpha Thalassemia	GPathogenic
Select item 375753	NC_000016.10:g.172005_177200del	LOC106804612, LOC106804613 +2 more	Deletion	alpha Thalassemia	GPathogenic
Select item 433555	Single allele	LOC106804612, LOC106804613 +2 more	Deletion	alpha Thalassemia	GPathogenic
Select item 2775407	NM_000517.4(HBA2):c.-157C>T	HBA2, LOC106804612	Single nucleotide variant	Thalassemia	GUncertain significance
Select item 869219	NC_000016.10:g.172832C>A	LOC106804612, HBA2	Single nucleotide variant	alpha Thalassemia	GBenign
Select item 1330139	NM_000517.4(HBA2):c.-79C>T	HBA2, LOC106804612	Single nucleotide variant	not provided	GUncertain significance
Select item 439124	NM_000517.4(HBA2):c.-79C>G	HBA2, LOC106804612	Single nucleotide variant	not specified	GUncertain significance
Select item 1330145	NM_000517.4(HBA2):c.-76G>A	HBA2, LOC106804612	Single nucleotide variant	not provided	GUncertain significance
Select item 2681969	NM_000517.4(HBA2):c.-70C>T	HBA2, LOC106804612	Single nucleotide variant	not provided	GUncertain significance
Select item 827660	NM_000517.4(HBA2):c.-59C>T	HBA2, LOC106804612	Single nucleotide variant	alpha Thalassemia +4 more	GUncertain significance
Select item 1267676	NM_000517.6(HBA2):c.-43G>C	HBA2, LOC106804612	Single nucleotide variant	not provided	GBenign
Select item 439120	NM_000517.5(HBA2):c.-42C>T	HBA2, LOC106804612	Single nucleotide variant	not provided	GUncertain significance
Select item 375750	NM_000517.4:c.[-2_-3delAC;-alpha3.7]	HBA2, LOC106804612 +2 more	Deletion	alpha Thalassemia	GPathogenic
Select item 38636	NC_000016.10:g.173384_177187del	HBA2, LOC106804612 +2 more	Deletion	alpha Thalassemia	GPathogenic
Select item 439119	NM_000517.5(HBA2):c.-41C>G	HBA2, LOC106804612	Single nucleotide variant	not specified	GConflicting classifications of pathogenicity
Select item 439113	NM_000517.6(HBA2):c.-24C>G	HBA2, LOC106804612	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 619847	NM_000517.6(HBA2):c.-15C>G	HBA2, LOC106804612	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2637482	NM_000517.6(HBA2):c.-3_-2del	HBA2, LOC106804612	Deletion (5 prime UTR variant)	not specified	GUncertain significance
Select item 2633792	NM_000517.6(HBA2):c.-4C>T	HBA2, LOC106804612	Single nucleotide variant (5 prime UTR variant)	HBA2-related disorder	GUncertain significance
Select item 648517	NC_000016.10:g.(?_172913)_(177411_?)del	HBA1, HBA2 +2 more	Deletion	not provided	GPathogenic
Select item 639866	NC_000016.10:g.(?_172913)_(173600_?)del	HBA2, LOC106804612	Deletion	not provided	GPathogenic
Select item 15694	NM_000517.6(HBA2):c.1del (p.Met1fs)	HBA2, LOC106804612 (M1fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 15645	NM_000517.6(HBA2):c.1A>G (p.Met1Val)	HBA2, LOC106804612 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	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 15692	NM_000517.6(HBA2):c.2del (p.Met1fs)	HBA2, LOC106804612 (M1fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 15643	NM_000517.6(HBA2):c.2T>C (p.Met1Thr)	HBA2, LOC106804612 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 15663	NM_000517.6(HBA2):c.5T>G (p.Val2Gly)	HBA2, LOC106804612 (V2G)	Single nucleotide variant (missense variant)	HEMOGLOBIN ANTANANARIVO	Gother
Select item 2428582	NM_000517.6(HBA2):c.8T>G (p.Leu3Arg)	LOC106804612, HBA2 (L3R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 619848	NM_000517.6(HBA2):c.18C>G (p.Ala6=)	LOC106804612, HBA2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 15641	NM_000517.6(HBA2):c.19_21del (p.Asp7del)	HBA2, LOC106804612 (D7del)	Deletion (inframe_deletion)	HEMOGLOBIN BOYLE HEIGHTS	Gother
Select item 15691	NM_000517.6(HBA2):c.22A>G (p.Lys8Glu)	LOC106804612, HBA2 (K8E)	Single nucleotide variant (missense variant)	not provided	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 15650	NM_000517.6(HBA2):c.30C>G (p.Asn10Lys)	HBA2, LOC106804612 (N10K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809560	NM_000517.6(HBA2):c.32T>A (p.Val11Asp)	HBA2, LOC106804612 (V11D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993109	NM_000517.6(HBA2):c.38C>A (p.Ala13Asp)	HBA2, LOC106804612 (A13D)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 801175	NM_000517.6(HBA2):c.40G>C (p.Ala14Pro)	HBA2, LOC106804612 (A14P)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3063969	NM_000517.6(HBA2):c.43T>C (p.Trp15Arg)	LOC106804612, HBA2 (W15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330495	NM_000517.6(HBA2):c.45G>A (p.Trp15Ter)	LOC106804612, HBA2 (W15*)	Single nucleotide variant (nonsense)	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 2506211	NM_000517.6(HBA2):c.46G>A (p.Gly16Ser)	HBA2, LOC106804612 (G16S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809563	NM_000517.6(HBA2):c.46G>C (p.Gly16Arg)	HBA2, LOC106804612 (G16R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 15634	NM_000517.4(HBA2):c.47G>A (p.Gly16Asp)	HBA2, LOC106804612 (G16D)	Single nucleotide variant (missense variant)	HEMOGLOBIN N (COSENZA) +2 more	Gother
Select item 15635	NM_000517.4(HBA2):c.49A>G (p.Lys17Glu)	HBA2, LOC106804612 (K17E)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 995799	NM_000517.6(HBA2):c.54del (p.Gly19fs)	HBA2, LOC106804612 (G19fs)	Deletion (frameshift variant)	alpha Thalassemia	GPathogenic
Select item 1330147	NM_000517.6(HBA2):c.55G>C (p.Gly19Arg)	HBA2, LOC106804612 (G19R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 280127	NM_000517.6(HBA2):c.60del (p.His21fs)	HBA2, LOC106804612 (H21fs)	Deletion (frameshift variant)	alpha Thalassemia +1 more	GPathogenic
Select item 15667	NM_000517.4(HBA2):c.61C>G (p.His21Asp)	HBA2, LOC106804612 (H21D)	Single nucleotide variant (missense variant)	HEMOGLOBIN NIKAIA	Gother
Select item 15774	NM_000517.6:c.63C>A	HBA1, HBA2 +1 more (H21Q)	Single nucleotide variant (missense variant)	HEMOGLOBIN LE LAMENTIN	Gother
Select item 801178	NM_000517.6(HBA2):c.64G>C (p.Ala22Pro)	HBA2, LOC106804612 (A22P)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2681968	NM_000517.6(HBA2):c.68G>A (p.Gly23Asp)	HBA2, LOC106804612 (G23D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 439123	NM_000517.6(HBA2):c.69del (p.Glu24fs)	LOC106804612, HBA2 (E24fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 15687	NM_000517.6(HBA2):c.69C>T (p.Gly23=)	HBA2, LOC106804612	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely pathogenic
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 15686	NM_000517.6(HBA2):c.70G>T (p.Glu24Ter)	HBA2, LOC106804612 (E24*)	Single nucleotide variant (nonsense)	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 990363	NM_000517.6(HBA2):c.74A>G (p.Tyr25Cys)	HBA2, LOC106804612 (Y25C)	Single nucleotide variant (missense variant)	alpha Thalassemia	GUncertain significance
Select item 618674	NM_000517.6(HBA2):c.75T>G (p.Tyr25Ter)	LOC106804612, HBA2 (Y25*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2581311	NM_000517.6(HBA2):c.77G>A (p.Gly26Asp)	HBA2, LOC106804612 (G26D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 801179	NM_000517.6(HBA2):c.79G>A (p.Ala27Thr)	HBA2, LOC106804612 (A27T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 15666	NM_000517.4(HBA2):c.80C>T (p.Ala27Val)	HBA2, LOC106804612 (A27V)	Single nucleotide variant (missense variant)	HEMOGLOBIN CAMPINAS	Gother
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 15625	NM_000517.4(HBA2):c.83A>T (p.Glu28Val)	HBA2, LOC106804612 (E28V)	Single nucleotide variant (missense variant)	HEMOGLOBIN SPANISH TOWN	Gother
Select item 619682	NM_000517.6(HBA2):c.84G>C (p.Glu28Asp)	LOC106804612, HBA2 (E28D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 15651	NM_000517.6(HBA2):c.89T>C (p.Leu30Pro)	HBA2, LOC106804612 (L30P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 439125	NM_000517.6(HBA2):c.91_93del (p.Glu31del)	HBA2, LOC106804612 (E31del)	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 375744	NM_000517.6(HBA2):c.94_95del (p.Arg32fs)	HBA2, LOC106804612 (R32fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 15677	NM_000517.6(HBA2):c.91G>C (p.Glu31Gln)	HBA2, LOC106804612 (E31Q)	Single nucleotide variant (missense variant)	HEMOGLOBIN G (CHINESE) +3 more	Gother
Select item 375746	NM_000517.6(HBA2):c.95+2_95+6del	HBA2, LOC106804612	Deletion (splice donor variant)	alpha Thalassemia +4 more	GPathogenic
Select item 2921026	NM_000517.6(HBA2):c.95+1G>C	HBA2, LOC106804612	Single nucleotide variant (splice donor variant)	not provided	GPathogenic

<< First< Prev

Page of 4