7211[HGNC] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151635	GRCh38/hg38 16p13.3(chr16:16203-129081)x3	HBA-LCR, LOC121530606 +14 more	Copy number gain	See cases	GBenign
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	LOC130058096, LOC130058097 +59 more	Copy number loss	See cases	GUncertain significance
Select item 152889	GRCh38/hg38 16p13.3(chr16:43722-308914)x3	MPG, NPRL3 +26 more	Copy number gain	See cases	GUncertain significance
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	OR1F1, OR2C1 +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	ANTKMT, ARHGDIG +119 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC130058195, LOC130058196 +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	RMI2, RNF151 +842 more	Copy number gain	See cases	GPathogenic
Select item 144134	GRCh38/hg38 16p13.3(chr16:46766-80410)x1	MPG, POLR3K +7 more	Copy number loss	See cases	GUncertain significance
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	AXIN1, BAIAP3 +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 144374	GRCh38/hg38 16p13.3(chr16:64296-135757)x3	HBA-LCR, LOC121530606 +7 more	Copy number gain	See cases	GBenign
Select item 2358336	NM_001015052.3(MPG):c.29G>T (p.Cys10Phe)	MPG (C10F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 787967	NM_001015052.3(MPG):c.93C>T (p.Asp31=)	MPG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787968	NM_001015052.3(MPG):c.189G>A (p.Pro63=)	MPG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2537055	NM_001015052.3(MPG):c.239G>A (p.Arg80Gln)	MPG (R68Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249712	NM_001015052.3(MPG):c.287C>A (p.Ala96Glu)	MPG (A84E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532170	NM_001015052.3(MPG):c.346A>G (p.Ile116Val)	MPG (I104V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354997	NM_001015052.3(MPG):c.349G>A (p.Val117Met)	MPG (V117M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396681	NM_001015052.3(MPG):c.367C>A (p.Leu123Met)	MPG (L123M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277165	NM_001015052.3(MPG):c.377A>G (p.Glu126Gly)	MPG (E114G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411658	NM_001015052.3(MPG):c.472G>A (p.Gly158Ser)	MPG (G158S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488676	NM_001015052.3(MPG):c.488T>C (p.Met163Thr)	MPG (M163T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533028	NM_001015052.3(MPG):c.506G>C (p.Gly169Ala)	MPG, NPRL3 (G157A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251275	NM_001015052.3(MPG):c.598G>A (p.Ala200Thr)	NPRL3, MPG (A188T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507572	NM_001015052.3(MPG):c.613A>G (p.Lys205Glu)	MPG, NPRL3 (K205E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482627	NM_001015052.3(MPG):c.622G>A (p.Glu208Lys)	MPG, NPRL3 (E208K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553692	NM_001015052.3(MPG):c.641C>G (p.Ser214Cys)	MPG, NPRL3 (S219C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325128	NM_001015052.3(MPG):c.721C>T (p.Arg241Cys)	NPRL3, MPG (R241C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319002	NM_001015052.3(MPG):c.764C>T (p.Ala255Val)	NPRL3, MPG (A243V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400860	NM_001015052.3(MPG):c.766C>T (p.Arg256Trp)	MPG, NPRL3 (R244W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2464870	NM_001015052.3(MPG):c.778G>A (p.Gly260Ser)	MPG, NPRL3 (G260S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233601	NM_001015052.3(MPG):c.799C>T (p.Arg267Trp)	MPG, NPRL3 (R255W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400630	NM_001015052.3(MPG):c.806C>T (p.Pro269Leu)	NPRL3, MPG (P257L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375288	NM_001015052.3(MPG):c.812G>A (p.Arg271His)	NPRL3, MPG (R259H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408517	NM_001015052.3(MPG):c.838G>A (p.Val280Ile)	NPRL3, MPG (V268I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2503955	NC_000016.9:g.(?_135799)_(143324_148142)dup	MPG, NPRL3	Duplication	not specified	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 1684554	GRCh37/hg19 16p13.3(chr16:96766-137939)x1	POLR3K, RHBDF1 +3 more	Copy number loss	See cases	GUncertain significance
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 1459499	NC_000016.9:g.(?_97132)_(163851_?)del	HBA2, MPG +4 more	Deletion	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 831357	NC_000016.9:g.(?_97132)_(193701_?)del	HBA2, MPG +4 more	Deletion	not provided	GPathogenic
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 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 564249	GRCh37/hg19 16p13.3(chr16:85880-147965)x1	SNRNP25, MPG +3 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	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	ABAT, ABCA3 +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	MPG, MRPL28 +24 more	Copy number loss	See cases	GPathogenic
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	ABAT, ABCA3 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 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 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: 85