3039[geneid] - ClinVar - NCBI

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	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 15891	NC_000016.10:g.159710T>C	HBA1	Single nucleotide variant	HEMOGLOBIN LAMEN ISLAND	Gother
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	HBA1, HBA2 +2 more	Deletion	alpha Thalassemia	GPathogenic
Select item 433555	Single allele	LOC106804612, LOC106804613 +2 more	Deletion	alpha Thalassemia	GPathogenic
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 648517	NC_000016.10:g.(?_172913)_(177411_?)del	HBA1, HBA2 +2 more	Deletion	not provided	GPathogenic
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 15844	NM_000517.6(HBA2):c.122A>T (p.Lys41Met)	HBA1, HBA2 +1 more (K41M)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 7 +1 more	GPathogenic; other
Select item 15743	NM_000558.5(HBA1):c.132C>G (p.Phe44Leu)	HBA1, HBA2 +1 more (F44L)	Single nucleotide variant (missense variant)	HEMOGLOBIN HIROSAKI	Gother
Select item 15808	NM_000517.6(HBA2):c.150C>A (p.Ser50Arg)	HBA1, HBA2 +1 more (S50R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 15871	NM_000558.5(HBA1):c.219C>A (p.His73Gln)	HBA1, HBA2 +1 more (H73Q)	Single nucleotide variant (missense variant)	HEMOGLOBIN GOUDA	Gother
Select item 1330062	NM_000517.6(HBA2):c.294C>A (p.Asn98Lys)	HBA1, HBA2 +1 more (N98K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 439771	NM_000517.6(HBA2):c.369C>G (p.His123Gln)	HBA1, HBA2 +1 more (H123Q)	Single nucleotide variant (missense variant)	Hemoglobin H disease +4 more	GUncertain significance
Select item 15655	NM_000517.6(HBA2):c.410T>C (p.Leu137Pro)	HBA2, HBA1 +1 more (L137P)	Single nucleotide variant (missense variant)	Splenomegaly +1 more	GPathogenic
Select item 15624	NM_000517.4(HBA2):c.427T>C (p.Ter143Gln)	HBA1, HBA2 +1 more	Single nucleotide variant (stop lost)	alpha Thalassemia +1 more	GPathogenic
Select item 15680	NC_000016.10:g.174045_192395del	HBA1, HBA2 +5 more	Deletion	Alpha-thalassemia, zf type	GPathogenic
Select item 643713	NC_000016.10:g.(?_176012)_(177299_?)del	HBA1, LOC106804613	Deletion	not provided	GPathogenic
Select item 869220	NC_000016.10:g.176177_176301del	HBA1, LOC106804613	Deletion	alpha Thalassemia	GBenign
Select item 3061801	NM_000558.4(HBA1):c.-286C>G	HBA1, LOC106804613	Single nucleotide variant	alpha Thalassemia	GUncertain significance
Select item 1226713	NC_000016.10:g.176440C>T	HBA1, LOC106804613	Single nucleotide variant	not provided	GBenign
Select item 439105	NM_000558.3(HBA1):c.-80C>A	HBA1, LOC106804613	Single nucleotide variant	not specified	GUncertain significance
Select item 439104	NM_000558.3(HBA1):c.-77C>G	HBA1, LOC106804613	Single nucleotide variant	not provided	GUncertain significance
Select item 618156	NM_000558.4(HBA1):c.-52C>T	HBA1, LOC106804613	Single nucleotide variant	not provided	GConflicting classifications of pathogenicity
Select item 439102	NM_000558.5(HBA1):c.-42C>T	HBA1, LOC106804613	Single nucleotide variant	not provided	GBenign/Likely benign
Select item 618154	NM_000558.4(HBA1):c.-41C>G	HBA1, LOC106804613	Single nucleotide variant	not provided	GLikely benign
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 439096	NM_000558.5(HBA1):c.-24C>G	HBA1, LOC106804613	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
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 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 665057	NC_000016.10:g.(?_176717)_(177411_?)del	HBA1, LOC106804613	Deletion	not provided	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 1162201	NM_000558.5(HBA1):c.2del (p.Met1fs)	HBA1, LOC106804613 (M1fs)	Deletion (frameshift variant +1 more)	alpha Thalassemia	GLikely pathogenic
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 15843	NM_000558.5(HBA1):c.5T>A (p.Val2Glu)	HBA1, LOC106804613 (V2E)	Single nucleotide variant (missense variant)	HEMOGLOBIN THIONVILLE	Gother
Select item 15714	NM_000558.5(HBA1):c.8T>G (p.Leu3Arg)	HBA1, LOC106804613 (L3R)	Single nucleotide variant (missense variant)	HEMOGLOBIN CHONGQING	Gother
Select item 15878	NM_000558.3(HBA1):c.11C>T (p.Ser4Phe)	HBA1, LOC106804613 (S4F)	Single nucleotide variant (missense variant)	HEMOGLOBIN DOUALA	Gother
Select item 15767	NM_000558.5(HBA1):c.16G>C (p.Ala6Pro)	HBA1, LOC106804613 (A6P)	Single nucleotide variant (missense variant)	HEMOGLOBIN KARACHI	Gother
Select item 15765	NM_000558.5(HBA1):c.17C>A (p.Ala6Asp)	HBA1, LOC106804613 (A6D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812042	NM_000558.5(HBA1):c.19_21del (p.Asp7del)	LOC106804613, HBA1 (D7del)	Deletion (inframe_deletion)	not specified	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 15835	NM_000558.3(HBA1):c.19G>T (p.Asp7Tyr)	HBA1, LOC106804613 (D7Y)	Single nucleotide variant (missense variant)	HEMOGLOBIN WOODVILLE	Gother
Select item 15722	NM_000558.3(HBA1):c.19G>A (p.Asp7Asn)	HBA1, LOC106804613 (D7N)	Single nucleotide variant (missense variant)	HEMOGLOBIN DUNN	Gother
Select item 15822	NM_000558.3(HBA1):c.20A>G (p.Asp7Gly)	HBA1, LOC106804613 (D7G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 15809	NM_000558.3(HBA1):c.20A>C (p.Asp7Ala)	HBA1, LOC106804613 (D7A)	Single nucleotide variant (missense variant)	HEMOGLOBIN SAWARA	Gother
Select item 15725	NM_000558.3(HBA1):c.20A>T (p.Asp7Val)	HBA1, LOC106804613 (D7V)	Single nucleotide variant (missense variant)	HEMOGLOBIN FERNDOWN	Gother
Select item 15861	NM_000558.5(HBA1):c.24G>C (p.Lys8Asn)	HBA1, LOC106804613 (K8N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 15881	NM_000558.3(HBA1):c.30C>G (p.Asn10Lys)	HBA1, LOC106804613 (N10K)	Single nucleotide variant (missense variant)	HEMOGLOBIN DELFZICHT	Gother
Select item 15830	NM_000558.3(HBA1):c.34A>C (p.Lys12Gln)	HBA1, LOC106804613 (K12Q)	Single nucleotide variant (missense variant)	HEMOGLOBIN WUMING +1 more	Gother
Select item 15697	NM_000558.5(HBA1):c.34A>G (p.Lys12Glu)	HBA1, LOC106804613 (K12E)	Single nucleotide variant (missense variant)	HEMOGLOBIN ANANTHARAJ	Gother
Select item 15696	NM_000558.5(HBA1):c.36G>C (p.Lys12Asn)	HBA1, LOC106804613 (K12N)	Single nucleotide variant (missense variant)	HEMOGLOBIN ALBANY-GEORGIA +1 more	Gother
Select item 15758	NM_000558.5(HBA1):c.38C>A (p.Ala13Asp)	HBA1, LOC106804613 (A13D)	Single nucleotide variant (missense variant)	HEMOGLOBIN J (PARIS 1) +1 more	Gother
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 15724	NM_000558.5(HBA1):c.43T>Y (p.Trp15Xaa)	HBA1, LOC106804613 (W15*)	Single nucleotide variant (missense variant)	HEMOGLOBIN EVANSTON	Gother
Select item 3075902	NM_000558.5(HBA1):c.44G>A (p.Trp15Ter)	HBA1, LOC106804613 (W15*)	Single nucleotide variant (nonsense)	alpha Thalassemia	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 15797	NM_000558.5(HBA1):c.46G>C (p.Gly16Arg)	HBA1, LOC106804613 (G16R)	Single nucleotide variant (missense variant)	HEMOGLOBIN SIAM +1 more	Gother
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 15746	NM_000558.3(HBA1):c.49A>G (p.Lys17Glu)	HBA1, LOC106804613 (K17E)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 15741	NM_000558.5(HBA1):c.50A>T (p.Lys17Met)	HBA1, LOC106804613 (K17M)	Single nucleotide variant (missense variant)	HEMOGLOBIN HARBIN	Gother
Select item 15704	NM_000558.3(HBA1):c.51G>C (p.Lys17Asn)	HBA1, LOC106804613 (K17N)	Single nucleotide variant (missense variant)	HEMOGLOBIN BEIJING	Gother
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 15736	NM_000558.5(HBA1):c.55G>C (p.Gly19Arg)	HBA1, LOC106804613 (G19R)	Single nucleotide variant (missense variant)	HEMOGLOBIN HANDSWORTH	Gother
Select item 15850	NM_000558.5(HBA1):c.56G>A (p.Gly19Asp)	HBA1, LOC106804613 (G19D)	Single nucleotide variant (missense variant)	HEMOGLOBIN AL-AIN ABU DHABI	Gother
Select item 15763	NM_000558.5(HBA1):c.59C>A (p.Ala20Glu)	HBA1, LOC106804613 (A20E)	Single nucleotide variant (missense variant)	HEMOGLOBIN J (TASHIKUERGAN)	Gother
Select item 3075900	NM_000558.5(HBA1):c.60del (p.His21fs)	HBA1, LOC106804613 (H21fs)	Deletion (frameshift variant)	alpha Thalassemia	GLikely pathogenic
Select item 15787	NM_000558.3(HBA1):c.61C>T (p.His21Tyr)	HBA1, LOC106804613 (H21Y)	Single nucleotide variant (missense variant)	HEMOGLOBIN NECKER ENFANTS-MALADES	Gother
Select item 2428550	NM_000558.5(HBA1):c.62_63insT (p.Ala22fs)	HBA1, LOC106804613 (A22fs)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 1330135	NM_000558.5(HBA1):c.62A>C (p.His21Pro)	LOC106804613, HBA1 (H21P)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity

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