ClinVar for Gene (Select 22891) - ClinVar

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

Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335602	NM_014951.3(ZNF365):c.744A>G (p.Glu248=)	ZNF365	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3335601	NM_014951.3(ZNF365):c.212C>G (p.Thr71Arg)	ZNF365 (T71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335599	NM_014951.3(ZNF365):c.575C>A (p.Ala192Glu)	ZNF365 (A192E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195394	NM_014951.3(ZNF365):c.86C>T (p.Pro29Leu)	ZNF365 (P29L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195393	NM_014951.3(ZNF365):c.646C>T (p.Arg216Trp)	ZNF365 (R216W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195392	NM_014951.3(ZNF365):c.500G>A (p.Arg167Gln)	ZNF365 (R167Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195391	NM_014951.3(ZNF365):c.13G>C (p.Ala5Pro)	ZNF365 (A5P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063161	GRCh37/hg19 10q21.1-21.2(chr10:59447320-64201694)x1	ANK3, ARID5B +15 more	Copy number loss	not specified	GUncertain significance
Select item 3024480	NC_000010.11:g.(?_59792917)_(68231677_?)del	LOC124403968, LOC124403969 +220 more	Deletion	Intellectual developmental disorder, autosomal dominant 70	GLikely pathogenic
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2600909	NM_014951.3(ZNF365):c.824T>C (p.Ile275Thr)	ZNF365 (I275T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2554134	NM_014951.3(ZNF365):c.478C>T (p.His160Tyr)	ZNF365 (H160Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462657	NM_014951.3(ZNF365):c.904C>G (p.Arg302Gly)	ZNF365 (R302G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458828	NM_014951.3(ZNF365):c.567G>T (p.Gln189His)	ZNF365 (Q189H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378084	NM_014951.3(ZNF365):c.200C>A (p.Ser67Tyr)	ZNF365 (S67Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373391	NC_000010.11:g.62623199A>G	ZNF365	Single nucleotide variant	not specified	GUncertain significance
Select item 2355211	NM_014951.3(ZNF365):c.704G>A (p.Arg235His)	ZNF365 (R235H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265326	NM_014951.3(ZNF365):c.92G>A (p.Cys31Tyr)	ZNF365 (C31Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254905	NM_014951.3(ZNF365):c.806C>T (p.Ala269Val)	ZNF365 (A269V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235742	NC_000010.11:g.62655401C>T	LOC126860945, ZNF365	Single nucleotide variant	not specified	GLikely benign
Select item 2208837	NM_014951.3(ZNF365):c.287C>T (p.Pro96Leu)	ZNF365 (P96L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204412	NM_014951.3(ZNF365):c.68G>A (p.Cys23Tyr)	ZNF365 (C23Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808195	GRCh37/hg19 10q21.1-21.3(chr10:57941252-64846332)x1	ADO, ANK3 +18 more	Copy number loss	not provided	GUncertain significance
Select item 1527588	GRCh37/hg19 10q21.2-21.3(chr10:63888935-64783617)	ADO, EGR2 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1283038	NC_000010.11:g.62656530A>G	ZNF365	Single nucleotide variant	not provided	GBenign
Select item 1282011	NM_014951.3(ZNF365):c.1009G>T (p.Ala337Ser)	ZNF365 (A337S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1275522	NM_199450.3(ZNF365):c.925-204C>A	ZNF365	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274565	NC_000010.11:g.62656216G>A	LOC126860945, ZNF365	Single nucleotide variant	not provided	GBenign
Select item 1274224	NM_014951.3(ZNF365):c.743+180C>T	ZNF365	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273577	NC_000010.11:g.62655653T>A	LOC126860945, ZNF365	Single nucleotide variant	not provided	GBenign
Select item 1272864	NM_199450.3(ZNF365):c.*91A>G	ZNF365	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1271699	NM_014951.3(ZNF365):c.744-30C>A	ZNF365	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269068	NM_199450.3(ZNF365):c.*54A>G	ZNF365	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1266745	NC_000010.11:g.62622902G>A	ZNF365	Single nucleotide variant	not provided	GBenign
Select item 1259305	NM_014951.3(ZNF365):c.924+34A>G	ZNF365	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258627	NC_000010.11:g.62666296G>T	ZNF365	Single nucleotide variant	not provided	GBenign
Select item 1257192	NM_014951.3(ZNF365):c.743+16_743+17del	ZNF365	Deletion (intron variant)	not provided	GBenign
Select item 1257178	NC_000010.11:g.62655271G>A	LOC126860945, ZNF365	Single nucleotide variant	not provided	GBenign
Select item 1234400	NC_000010.11:g.62666038C>T	ZNF365	Single nucleotide variant	not provided	GBenign
Select item 1225274	NC_000010.11:g.62670472C>A	LOC132211101, ZNF365	Single nucleotide variant	not provided	GBenign
Select item 1221562	NM_014951.3(ZNF365):c.962+210A>G	ZNF365	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178623	NM_014951.3(ZNF365):c.743+56G>C	ZNF365	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 815353	GRCh37/hg19 10q21.2-21.3(chr10:62191184-65348431)x1	CDK1, CABCOCO1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 815349	GRCh37/hg19 10q21.1-21.3(chr10:56031210-65660398)x1	MTRNR2L5, TMEM26 +23 more	Copy number loss	not provided	GPathogenic
Select item 815342	GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1	TIMM23, C10orf71 +50 more	Copy number loss	not provided	GPathogenic
Select item 806480	NC_000010.11:g.62655516A>G	LOC126860945, ZNF365	Single nucleotide variant	not provided	GUncertain significance
Select item 786160	NM_199451.3(ZNF365):c.1325A>G (p.Glu442Gly)	ZNF365	Single nucleotide variant	not provided	GBenign
Select item 786159	NM_199451.3(ZNF365):c.1245C>A (p.Ser415Arg)	ZNF365	Single nucleotide variant	not provided	GLikely benign
Select item 782150	NM_199451.3(ZNF365):c.1130-755G>C	LOC126860945, ZNF365	Single nucleotide variant	not provided	GBenign
Select item 780866	NM_199451.3(ZNF365):c.1254C>A (p.Ile418=)	ZNF365	Single nucleotide variant	not provided	GBenign
Select item 773798	NM_199451.3(ZNF365):c.1194C>T (p.Asp398=)	ZNF365	Single nucleotide variant	not provided	GBenign
Select item 752554	NM_199451.3(ZNF365):c.1130-1508G>T	ZNF365	Single nucleotide variant	not provided	GLikely benign
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442208	GRCh37/hg19 10q21.1-21.2(chr10:57587928-64212007)x1	ANK3, ARID5B +16 more	Copy number loss	See cases	GLikely pathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 155221	GRCh38/hg38 10q21.2-21.3(chr10:60977777-62913465)x3	ADO, ARID5B +78 more	Copy number gain	See cases	GUncertain significance
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 152646	GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3	ADO, ANK3 +227 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 148493	GRCh38/hg38 10q21.2(chr10:62385040-62585115)x1	LOC130003893, LOC130003894 +2 more	Copy number loss	See cases	GLikely benign
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 2817	NC_000010.11:g.62655424=	LOC126860945, ZNF365	Single nucleotide variant	not provided	GBenign

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: 68