HBQ1[gene] - ClinVar

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Items: 87

	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 155184	GRCh38/hg38 16p13.3(chr16:165236-182113)x1	HBA1, HBA2 +6 more	Copy number loss	See cases	GLikely benign
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 15680	NC_000016.10:g.174045_192395del	HBA1, HBA2 +5 more	Deletion	Alpha-thalassemia, zf type	GPathogenic
Select item 2342455	NM_005331.5(HBQ1):c.11C>T (p.Ser4Phe)	HBQ1 (S4F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293741	NM_005331.5(HBQ1):c.47A>G (p.Lys16Arg)	HBQ1 (K16R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 144341	GRCh38/hg38 16p13.3(chr16:180542-181197)x1	HBQ1, LOC130058090	Copy number loss	See cases	GPathogenic
Select item 2265797	NM_005331.5(HBQ1):c.70G>C (p.Val24Leu)	HBQ1 (V24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104413	NM_005331.5(HBQ1):c.157T>C (p.Ser53Pro)	HBQ1 (S53P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368304	NM_005331.5(HBQ1):c.225C>G (p.Asp75Glu)	HBQ1 (D75E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268416	NM_005331.5(HBQ1):c.233C>G (p.Pro78Arg)	HBQ1 (P78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558760	NM_005331.5(HBQ1):c.265G>A (p.Ala89Thr)	HBQ1 (A89T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381978	NM_005331.5(HBQ1):c.269G>C (p.Cys90Ser)	HBQ1 (C90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104414	NM_005331.5(HBQ1):c.271C>G (p.Gln91Glu)	HBQ1 (Q91E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619045	NM_005331.5(HBQ1):c.380A>C (p.Asp127Ala)	HBQ1, LOC130058090 (D127A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104415	NM_005331.5(HBQ1):c.382A>G (p.Lys128Glu)	HBQ1, LOC130058090 (K128E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546377	NM_005331.5(HBQ1):c.410T>C (p.Leu137Pro)	HBQ1, LOC130058090 (L137P)	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	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +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 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
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: 87