HBM[gene] - ClinVar

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Items: 83

	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	ABAT, ABCA3 +822 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	EEF2KMT, ELOB +917 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	ABAT, ABCA3 +843 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 58387	GRCh38/hg38 16p13.3(chr16:46766-168972)x3	HBA-LCR, HBM +13 more	Copy number gain	See cases	GUncertain significance
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 59730	GRCh38/hg38 16p13.3(chr16:129081-168972)x3	HBA-LCR, HBM +2 more	Copy number gain	See cases	GBenign
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 2470423	NM_001003938.4(HBM):c.56G>A (p.Gly19Asp)	HBM (G19D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219496	NM_001003938.4(HBM):c.61G>A (p.Glu21Lys)	HBM (E21K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219497	NM_001003938.4(HBM):c.62A>G (p.Glu21Gly)	HBM (E21G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332858	NM_001003938.4(HBM):c.97T>C (p.Phe33Leu)	HBM (F33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401834	NM_001003938.4(HBM):c.170G>C (p.Ser57Thr)	HBM (S57T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283574	NM_001003938.4(HBM):c.185T>G (p.Met62Arg)	HBM (M62R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104404	NM_001003938.4(HBM):c.277G>T (p.Val93Leu)	HBM (V93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470422	NM_001003938.4(HBM):c.342G>C (p.Gln114His)	HBM (Q114H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220863	Single allele	HBA1, HBA2 +3 more	Deletion	alpha Thalassemia	GPathogenic
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 2580349	GRCh37/hg19 16p13.3(chr16:215947-231157)x1	HBA1, HBA2 +2 more	Copy number loss	alpha Thalassemia	GPathogenic
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 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 1328438	GRCh37/hg19 16p13.3(chr16:212275-234987)x1	HBA1, HBA2 +2 more	Copy number loss	not provided	GPathogenic
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	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 688348	GRCh37/hg19 16p13.3(chr16:85880-2053328)x1	ANTKMT, ARHGDIG +89 more	Copy number loss	not provided	GPathogenic
Select item 687431	GRCh37/hg19 16p13.3(chr16:85880-1468459)x1	ANTKMT, ARHGDIG +58 more	Copy number loss	not provided	GPathogenic
Select item 685952	GRCh37/hg19 16p13.3(chr16:85880-830613)x1	ANTKMT, ARHGDIG +40 more	Copy number loss	not provided	GPathogenic
Select item 638132	GRCh37/hg19 16p13.3(chr16:216742-233272)x0	HBA1, HBA2 +2 more	Copy number loss	See cases	GPathogenic
Select item 625829	GRCh37/hg19 16p13.3(chr16:216075-231021)	HBQ1, HBA1 +2 more	Copy number loss	alpha Thalassemia	GPathogenic
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 564252	GRCh37/hg19 16p13.3(chr16:85880-1875694)x1	PDIA2, POLR3K +75 more	Copy number loss	not provided	GPathogenic
Select item 564251	GRCh37/hg19 16p13.3(chr16:85880-1498731)x1	PGAP6, TSR3 +61 more	Copy number loss	not provided	GPathogenic
Select item 564250	GRCh37/hg19 16p13.3(chr16:85880-294656)x1	SNRNP25, HBA2 +10 more	Copy number loss	not provided	GUncertain significance
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443353	GRCh37/hg19 16p13.3(chr16:85880-546267)x3	ARHGDIG, AXIN1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 442602	GRCh37/hg19 16p13.3(chr16:106859-735154)x3	ARHGDIG, AXIN1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 441754	GRCh37/hg19 16p13.3(chr16:85880-643107)x1	HBA1, HBA2 +24 more	Copy number loss	See cases	GPathogenic
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395661	GRCh37/hg19 16p13.3(chr16:154314-223685)x3	HBA2, HBM +2 more	Copy number gain	See cases	GUncertain significance
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395161	GRCh37/hg19 16p13.3(chr16:216621-223674)x3	HBA2, HBM	Copy number gain	See cases	GBenign
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 394771	GRCh37/hg19 16p13.3(chr16:113746-240243)x3	HBA1, HBA2 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253807	GRCh37/hg19 16p13.3(chr16:216724-340009)x3	HBA2, HBM +8 more	Copy number gain	See cases	GUncertain significance
Select item 253622	GRCh37/hg19 16p13.3(chr16:72769-1511716)x1	CCDC154, CCDC78 +61 more	Copy number loss	See cases	GPathogenic
Select item 252979	GRCh37/hg19 16p13.3(chr16:88165-1715454)x1	ANTKMT, ARHGDIG +66 more	Copy number loss	See cases	GPathogenic
Select item 221507	GRCh37/hg19 16p13.3(chr16:97494-323799)x3	HBA2, HBM +11 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221390	GRCh37/hg19 16p13.3(chr16:97494-1257060)x3	ANTKMT, ARHGDIG +49 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 83