ZNF681[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 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
Select item 151167	GRCh38/hg38 19p12(chr19:23427660-23950272)x3	LOC100505851, LOC125371498 +7 more	Copy number gain	See cases	GUncertain significance
Select item 155572	GRCh38/hg38 19p12(chr19:23438627-23899197)x1	LOC125371498, LOC130064105 +5 more	Copy number loss	See cases	GUncertain significance
Select item 154475	GRCh38/hg38 19p12(chr19:23441726-24128733)x1	LOC100505851, LOC125371498 +15 more	Copy number loss	See cases	GBenign
Select item 549646	NC_000019.9:g.23624728_24054225del429498	LOC125371498, LOC130064105 +5 more	Deletion	Primary amenorrhea	GLikely benign
Select item 148477	GRCh38/hg38 19p12(chr19:23441926-23878224)x1	LOC125371498, LOC130064105 +5 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 146250	GRCh38/hg38 19p12(chr19:23441926-23950272)x3	LOC100505851, LOC125371498 +7 more	Copy number gain	See cases	GLikely benign
Select item 145455	GRCh38/hg38 19p12(chr19:23442005-23860325)x1	LOC125371498, LOC130064105 +5 more	Copy number loss	See cases	GBenign/Likely benign
Select item 153616	GRCh38/hg38 19p12-11(chr19:23540844-24322835)x3	LINC03085, LOC100505851 +15 more	Copy number gain	See cases	GUncertain significance
Select item 152945	GRCh38/hg38 19p12(chr19:23549190-24195691)x3	LINC03085, LOC100505851 +15 more	Copy number gain	See cases	GUncertain significance
Select item 146715	GRCh38/hg38 19p12(chr19:23629461-24183272)x3	LINC03085, LOC100505851 +14 more	Copy number gain	See cases	GUncertain significance
Select item 155499	GRCh38/hg38 19p12-11(chr19:23631687-24324339)x4	LINC03085, LOC100505851 +14 more	Copy number gain	See cases	GUncertain significance
Select item 153277	GRCh38/hg38 19p12-11(chr19:23631687-24322835)x3	LINC03085, LOC100505851 +14 more	Copy number gain	See cases	GUncertain significance
Select item 150152	GRCh38/hg38 19p12(chr19:23665911-24195691)x3	LINC03085, LOC100505851 +14 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 145634	GRCh38/hg38 19p12(chr19:23685651-24193591)x3	LINC03085, LOC100505851 +14 more	Copy number gain	See cases	GUncertain significance
Select item 3197699	NM_138286.3(ZNF681):c.1824T>A (p.His608Gln)	ZNF681 (H608Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197698	NM_138286.3(ZNF681):c.1763A>G (p.Lys588Arg)	ZNF681 (K588R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304276	NM_138286.3(ZNF681):c.1740T>G (p.His580Gln)	ZNF681 (H580Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259179	NM_138286.3(ZNF681):c.1706A>G (p.Lys569Arg)	ZNF681 (K569R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197696	NM_138286.3(ZNF681):c.1661T>A (p.Val554Glu)	ZNF681 (V554E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396726	NM_138286.3(ZNF681):c.1624G>A (p.Ala542Thr)	ZNF681 (A542T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197694	NM_138286.3(ZNF681):c.1474A>G (p.Ile492Val)	ZNF681 (I492V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618832	NM_138286.3(ZNF681):c.1414C>T (p.His472Tyr)	ZNF681 (H472Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356165	NM_138286.3(ZNF681):c.1396A>G (p.Thr466Ala)	ZNF681 (T466A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556298	NM_138286.3(ZNF681):c.1383G>C (p.Gln461His)	ZNF681 (Q461H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343663	NM_138286.3(ZNF681):c.1165A>G (p.Thr389Ala)	ZNF681 (T389A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619720	NM_138286.3(ZNF681):c.1163A>T (p.His388Leu)	ZNF681 (H388L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247409	NM_138286.3(ZNF681):c.1145C>T (p.Thr382Ile)	ZNF681 (T382I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353604	NM_138286.3(ZNF681):c.1112G>A (p.Cys371Tyr)	ZNF681 (C371Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275611	NM_138286.3(ZNF681):c.1082C>G (p.Thr361Ser)	ZNF681 (T361S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197693	NM_138286.3(ZNF681):c.1037C>T (p.Ala346Val)	ZNF681 (A346V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241594	NM_138286.3(ZNF681):c.1016A>C (p.Lys339Thr)	ZNF681 (K339T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256531	NM_138286.3(ZNF681):c.983A>G (p.His328Arg)	ZNF681 (H328R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592908	NM_138286.3(ZNF681):c.929A>G (p.Asn310Ser)	ZNF681 (N310S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215530	NM_138286.3(ZNF681):c.916A>G (p.Arg306Gly)	ZNF681 (R306G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259181	NM_138286.3(ZNF681):c.848A>G (p.Lys283Arg)	ZNF681 (K283R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559567	NM_138286.3(ZNF681):c.821T>C (p.Ile274Thr)	ZNF681 (I274T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273546	NM_138286.3(ZNF681):c.692G>A (p.Cys231Tyr)	ZNF681 (C231Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259180	NM_138286.3(ZNF681):c.661A>G (p.Ile221Val)	ZNF681 (I221V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197707	NM_138286.3(ZNF681):c.647A>G (p.His216Arg)	ZNF681 (H216R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262006	NM_138286.3(ZNF681):c.626G>T (p.Gly209Val)	ZNF681 (G209V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283091	NM_138286.3(ZNF681):c.607T>C (p.Cys203Arg)	ZNF681 (C203R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197705	NM_138286.3(ZNF681):c.587A>G (p.Asn196Ser)	ZNF681 (N196S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197704	NM_138286.3(ZNF681):c.562C>T (p.His188Tyr)	ZNF681 (H188Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344886	NM_138286.3(ZNF681):c.513A>C (p.Lys171Asn)	ZNF681 (K171N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482405	NM_138286.3(ZNF681):c.496A>G (p.Arg166Gly)	ZNF681 (R166G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2409898	NM_138286.3(ZNF681):c.475G>C (p.Gly159Arg)	ZNF681 (G159R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197703	NM_138286.3(ZNF681):c.474T>A (p.Asn158Lys)	ZNF681 (N158K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197702	NM_138286.3(ZNF681):c.451T>C (p.Phe151Leu)	ZNF681 (F151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520006	NM_138286.3(ZNF681):c.438A>T (p.Lys146Asn)	ZNF681 (K146N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197701	NM_138286.3(ZNF681):c.404C>T (p.Pro135Leu)	ZNF681 (P135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197697	NM_138286.3(ZNF681):c.175G>A (p.Glu59Lys)	ZNF681 (E59K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197695	NM_138286.3(ZNF681):c.158T>C (p.Ile53Thr)	ZNF681 (I53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405397	NM_138286.3(ZNF681):c.157A>T (p.Ile53Phe)	ZNF681 (I53F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259178	NM_138286.3(ZNF681):c.89G>A (p.Arg30Lys)	ZNF681 (R30K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197708	NM_138286.3(ZNF681):c.74A>G (p.Gln25Arg)	ZNF681 (Q25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549839	NM_138286.3(ZNF681):c.60C>G (p.Cys20Trp)	ZNF681 (C20W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197700	NM_138286.3(ZNF681):c.22G>T (p.Asp8Tyr)	ZNF681 (D8Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808207	GRCh37/hg19 19p12(chr19:23217767-23956831)x3	ZNF675, ZNF681 +2 more	Copy number gain	not provided	GUncertain significance
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 816510	GRCh37/hg19 19p12-11(chr19:22630650-24487350)x3	ZNF99, ZNF492 +7 more	Copy number gain	See cases	GUncertain significance
Select item 624550	GRCh37/hg19 19p12(chr19:23855084-24340741)x3	ZNF254, ZNF675 +2 more	Copy number gain	not provided	GUncertain significance
Select item 564601	GRCh37/hg19 19p12-11(chr19:22635439-24505637)x3	ZNF254, ZNF492 +7 more	Copy number gain	not provided	GLikely benign
Select item 564596	GRCh37/hg19 19p12-11(chr19:23804544-24505637)x3	ZNF675, ZNF681 +2 more	Copy number gain	not provided	GLikely benign
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443293	GRCh37/hg19 19p12(chr19:23609725-24149545)x3	ZNF675, ZNF681 +1 more	Copy number gain	See cases	GUncertain significance
Select item 443118	GRCh37/hg19 19p12-11(chr19:23912239-24507121)x3	ZNF254, ZNF681 +1 more	Copy number gain	See cases	GUncertain significance
Select item 442618	GRCh37/hg19 19p12(chr19:23620945-24081999)x1	ZNF675, ZNF681	Copy number loss	See cases	GLikely benign
Select item 221350	chr19:19230868-24115369 complex variant	ATP13A1, BORCS8 +49 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 73