ClinVar for Gene (Select 163223) - ClinVar

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Links from Gene

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259154	NM_001001411.3(ZNF676):c.1156A>G (p.Ile386Val)	ZNF676 (I386V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259152	NM_001001411.3(ZNF676):c.251G>C (p.Ser84Thr)	ZNF676 (S84T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259151	NM_001001411.3(ZNF676):c.793G>T (p.Val265Phe)	ZNF676 (V265F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259150	NM_001001411.3(ZNF676):c.1411C>A (p.His471Asn)	ZNF676 (H471N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259149	NM_001001411.3(ZNF676):c.428G>A (p.Cys143Tyr)	ZNF676 (C143Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259148	NM_001001411.3(ZNF676):c.398T>G (p.Ile133Arg)	ZNF676 (I133R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259147	NM_001001411.3(ZNF676):c.1112G>A (p.Gly371Asp)	ZNF676 (G371D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197655	NM_001001411.3(ZNF676):c.87G>C (p.Glu29Asp)	ZNF676 (E29D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197653	NM_001001411.3(ZNF676):c.430A>G (p.Lys144Glu)	ZNF676 (K144E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197652	NM_001001411.3(ZNF676):c.361G>A (p.Val121Ile)	ZNF676 (V121I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197651	NM_001001411.3(ZNF676):c.229G>C (p.Glu77Gln)	ZNF676 (E77Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197650	NM_001001411.3(ZNF676):c.1726G>A (p.Val576Ile)	ZNF676 (V576I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3197649	NM_001001411.3(ZNF676):c.1702A>G (p.Lys568Glu)	ZNF676 (K568E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197648	NM_001001411.3(ZNF676):c.164C>T (p.Pro55Leu)	ZNF676 (P55L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197647	NM_001001411.3(ZNF676):c.1285G>T (p.Ala429Ser)	ZNF676 (A429S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197646	NM_001001411.3(ZNF676):c.1196G>A (p.Gly399Asp)	ZNF676 (G399D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197645	NM_001001411.3(ZNF676):c.1115A>G (p.Lys372Arg)	ZNF676 (K372R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649645	NM_001001411.3(ZNF676):c.690T>C (p.Cys230=)	ZNF676	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649644	NM_001001411.3(ZNF676):c.735A>T (p.Ile245=)	ZNF676	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649643	NM_001001411.3(ZNF676):c.783A>C (p.Gly261=)	ZNF676	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649642	NM_001001411.3(ZNF676):c.1224C>T (p.Leu408=)	ZNF676	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649641	NM_001001411.3(ZNF676):c.1245T>C (p.His415=)	ZNF676	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619112	NM_001001411.3(ZNF676):c.1660A>T (p.Ile554Phe)	ZNF676 (I554F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610046	NM_001001411.3(ZNF676):c.1463C>T (p.Thr488Met)	ZNF676 (T488M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541919	NM_001001411.3(ZNF676):c.277G>A (p.Val93Met)	ZNF676 (V93M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537794	NM_001001411.3(ZNF676):c.343T>C (p.Cys115Arg)	ZNF676 (C115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527917	NM_001001411.3(ZNF676):c.176T>C (p.Ile59Thr)	ZNF676 (I59T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526041	NM_001001411.3(ZNF676):c.356C>A (p.Ala119Glu)	ZNF676 (A119E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494695	NM_001001411.3(ZNF676):c.908A>G (p.His303Arg)	ZNF676 (H303R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487851	NM_001001411.3(ZNF676):c.586C>A (p.Pro196Thr)	ZNF676 (P196T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396076	NM_001001411.3(ZNF676):c.211T>C (p.Tyr71His)	ZNF676 (Y71H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390718	NM_001001411.3(ZNF676):c.390A>T (p.Arg130Ser)	ZNF676 (R130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386616	NM_001001411.3(ZNF676):c.1445G>A (p.Cys482Tyr)	ZNF676 (C482Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380097	NM_001001411.3(ZNF676):c.1511G>C (p.Arg504Pro)	ZNF676 (R504P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2376850	NM_001001411.3(ZNF676):c.560A>G (p.Tyr187Cys)	ZNF676 (Y187C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376849	NM_001001411.3(ZNF676):c.172G>A (p.Gly58Ser)	ZNF676 (G58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371230	NM_001001411.3(ZNF676):c.1175C>T (p.Pro392Leu)	ZNF676 (P392L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370573	NM_001001411.3(ZNF676):c.1153G>A (p.Ala385Thr)	ZNF676 (A385T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367097	NM_001001411.3(ZNF676):c.722C>G (p.Thr241Ser)	ZNF676 (T241S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2365941	NM_001001411.3(ZNF676):c.1320G>C (p.Lys440Asn)	ZNF676 (K440N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351501	NM_001001411.3(ZNF676):c.1124G>A (p.Ser375Asn)	ZNF676 (S375N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351081	NM_001001411.3(ZNF676):c.770A>G (p.Glu257Gly)	ZNF676 (E257G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347766	NM_001001411.3(ZNF676):c.183T>G (p.Asp61Glu)	ZNF676 (D61E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334264	NM_001001411.3(ZNF676):c.662G>T (p.Gly221Val)	ZNF676 (G221V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328922	NM_001001411.3(ZNF676):c.226C>T (p.His76Tyr)	ZNF676 (H76Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316213	NM_001001411.3(ZNF676):c.572A>G (p.His191Arg)	ZNF676 (H191R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313483	NM_001001411.3(ZNF676):c.1496A>G (p.His499Arg)	ZNF676 (H499R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307793	NM_001001411.3(ZNF676):c.982A>G (p.Lys328Glu)	ZNF676 (K328E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291222	NM_001001411.3(ZNF676):c.1627A>C (p.Ser543Arg)	ZNF676 (S543R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280782	NM_001001411.3(ZNF676):c.913G>C (p.Gly305Arg)	ZNF676 (G305R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255931	NM_001001411.3(ZNF676):c.1741A>G (p.Lys581Glu)	ZNF676 (K581E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230871	NM_001001411.3(ZNF676):c.406A>G (p.Thr136Ala)	ZNF676 (T136A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230410	NM_001001411.3(ZNF676):c.788G>C (p.Ser263Thr)	ZNF676 (S263T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221830	NM_001001411.3(ZNF676):c.1471A>G (p.Ile491Val)	ZNF676 (I491V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213687	NM_001001411.3(ZNF676):c.582G>C (p.Glu194Asp)	ZNF676 (E194D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212977	NM_001001411.3(ZNF676):c.1405A>G (p.Arg469Gly)	ZNF676 (R469G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1341123	GRCh37/hg19 19p12(chr19:21856925-22415702)x3	ZNF100, ZNF208 +3 more	Copy number gain	not provided	GLikely benign
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 816522	GRCh37/hg19 19p12(chr19:22208751-23199700)x3	ZNF257, ZNF492 +5 more	Copy number gain	See cases	GLikely benign
Select item 816071	GRCh37/hg19 19p12(chr19:21717186-23008275)x3	ZNF100, ZNF208 +8 more	Copy number gain	not provided	GLikely benign
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 221350	chr19:19230868-24115369 complex variant	ATP13A1, BORCS8 +49 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 153793	GRCh38/hg38 19p12(chr19:22159102-23021493)x3	LINC01233, LINC01785 +10 more	Copy number gain	See cases	GUncertain significance
Select item 152242	GRCh38/hg38 19p12(chr19:22176690-23010173)x3	LINC01233, LINC01785 +9 more	Copy number gain	See cases	GUncertain significance
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 146475	GRCh38/hg38 19p12(chr19:21591877-22802732)x3	ZNF100, LINC01233 +13 more	Copy number gain	See cases	GUncertain significance
Select item 145763	GRCh38/hg38 19p12(chr19:21591877-22830542)x3	LINC01233, LINC01785 +14 more	Copy number gain	See cases	GBenign
Select item 145093	GRCh38/hg38 19p12(chr19:21591877-22802673)x3	LINC01233, LINC01785 +13 more	Copy number gain	See cases	GBenign
Select item 145090	GRCh38/hg38 19p12(chr19:22213932-22261454)x3	ZNF676	Copy number gain	See cases	GBenign
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 73