ClinVar for Gene (Select 22891) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +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	A54V	LOC126860945, ZNF365 (A54V)	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	NM_199451.3(ZNF365):c.1130-880A>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)	A1CF, ABCC2 +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	BCCIP, BEND7 +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	NM_199451.3(ZNF365):c.1130-972=	LOC126860945, ZNF365	Single nucleotide variant	not provided	GBenign

ClinVar

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Germline classification

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Molecular consequence

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Links from Gene

Items: 65