ClinVar for Gene (Select 148213) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3259180	NM_138286.3(ZNF681):c.661A>G (p.Ile221Val)	ZNF681 (I221V)	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 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 3197707	NM_138286.3(ZNF681):c.647A>G (p.His216Arg)	ZNF681 (H216R)	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 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 3197701	NM_138286.3(ZNF681):c.404C>T (p.Pro135Leu)	ZNF681 (P135L)	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 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 3197697	NM_138286.3(ZNF681):c.175G>A (p.Glu59Lys)	ZNF681 (E59K)	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 3197695	NM_138286.3(ZNF681):c.158T>C (p.Ile53Thr)	ZNF681 (I53T)	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 3197693	NM_138286.3(ZNF681):c.1037C>T (p.Ala346Val)	ZNF681 (A346V)	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 2618832	NM_138286.3(ZNF681):c.1414C>T (p.His472Tyr)	ZNF681 (H472Y)	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 2559567	NM_138286.3(ZNF681):c.821T>C (p.Ile274Thr)	ZNF681 (I274T)	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 2549839	NM_138286.3(ZNF681):c.60C>G (p.Cys20Trp)	ZNF681 (C20W)	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 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 2405397	NM_138286.3(ZNF681):c.157A>T (p.Ile53Phe)	ZNF681 (I53F)	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 2356165	NM_138286.3(ZNF681):c.1396A>G (p.Thr466Ala)	ZNF681 (T466A)	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 2344886	NM_138286.3(ZNF681):c.513A>C (p.Lys171Asn)	ZNF681 (K171N)	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 2304276	NM_138286.3(ZNF681):c.1740T>G (p.His580Gln)	ZNF681 (H580Q)	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 2275611	NM_138286.3(ZNF681):c.1082C>G (p.Thr361Ser)	ZNF681 (T361S)	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 2262006	NM_138286.3(ZNF681):c.626G>T (p.Gly209Val)	ZNF681 (G209V)	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 2247409	NM_138286.3(ZNF681):c.1145C>T (p.Thr382Ile)	ZNF681 (T382I)	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 2215530	NM_138286.3(ZNF681):c.916A>G (p.Arg306Gly)	ZNF681 (R306G)	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 549646	NC_000019.9:g.23624728_24054225del429498	LOC125371498, LOC130064105 +5 more	Deletion	Primary amenorrhea	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 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
Select item 155572	GRCh38/hg38 19p12(chr19:23438627-23899197)x1	LOC125371498, LOC130064105 +5 more	Copy number loss	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 154475	GRCh38/hg38 19p12(chr19:23441726-24128733)x1	LOC100505851, LOC125371498 +15 more	Copy number loss	See cases	GBenign
Select item 153616	GRCh38/hg38 19p12-11(chr19:23540844-24322835)x3	LINC03085, LOC100505851 +15 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 152945	GRCh38/hg38 19p12(chr19:23549190-24195691)x3	LINC03085, LOC100505851 +15 more	Copy number gain	See cases	GUncertain significance
Select item 151167	GRCh38/hg38 19p12(chr19:23427660-23950272)x3	LOC100505851, LOC125371498 +7 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 148477	GRCh38/hg38 19p12(chr19:23441926-23878224)x1	LOC125371498, LOC130064105 +5 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 146715	GRCh38/hg38 19p12(chr19:23629461-24183272)x3	LINC03085, LOC100505851 +14 more	Copy number gain	See cases	GUncertain significance
Select item 146250	GRCh38/hg38 19p12(chr19:23441926-23950272)x3	LOC100505851, LOC125371498 +7 more	Copy number gain	See cases	GLikely benign
Select item 145634	GRCh38/hg38 19p12(chr19:23685651-24193591)x3	LINC03085, LOC100505851 +14 more	Copy number gain	See cases	GUncertain significance
Select item 145455	GRCh38/hg38 19p12(chr19:23442005-23860325)x1	LOC125371498, LOC130064105 +5 more	Copy number loss	See cases	GBenign/Likely benign
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

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 73