ZNF764[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 146284	GRCh38/hg38 16p11.2(chr16:29581462-30691912)x1	ALDOA, ASPHD1 +180 more	Copy number loss	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 59991	GRCh38/hg38 16p11.2(chr16:30359229-30570499)x3	CD2BP2-DT, DCTPP1 +46 more	Copy number gain	See cases	GUncertain significance
Select item 2291267	NM_001172679.2(ZNF764):c.1201G>A (p.Glu401Lys)	ZNF764 (E401K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259439	NM_001172679.2(ZNF764):c.1184G>A (p.Gly395Asp)	ZNF764 (G396D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259438	NM_001172679.2(ZNF764):c.1142T>C (p.Val381Ala)	ZNF764 (V381A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324982	NM_001172679.2(ZNF764):c.1123G>T (p.Val375Phe)	ZNF764 (V375F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205181	NM_001172679.2(ZNF764):c.1121G>A (p.Arg374Gln)	ZNF764 (R374Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329535	NM_001172679.2(ZNF764):c.1093C>T (p.Arg365Trp)	ZNF764 (R365W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198157	NM_001172679.2(ZNF764):c.1022C>T (p.Pro341Leu)	ZNF764 (P342L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211695	NM_001172679.2(ZNF764):c.1018A>G (p.Lys340Glu)	ZNF764 (K340E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235223	NM_001172679.2(ZNF764):c.997A>G (p.Arg333Gly)	ZNF764 (R334G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198170	NM_001172679.2(ZNF764):c.970C>T (p.Arg324Cys)	ZNF764 (R325C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610703	NM_001172679.2(ZNF764):c.961C>A (p.Arg321Ser)	ZNF764 (R321S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621407	NM_001172679.2(ZNF764):c.958G>A (p.Gly320Arg)	ZNF764 (G320R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198169	NM_001172679.2(ZNF764):c.940T>C (p.Tyr314His)	ZNF764 (Y315H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198168	NM_001172679.2(ZNF764):c.844G>A (p.Gly282Ser)	ZNF764 (G283S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198167	NM_001172679.2(ZNF764):c.829C>T (p.Arg277Trp)	ZNF764 (R277W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259437	NM_001172679.2(ZNF764):c.731C>T (p.Ala244Val)	ZNF764 (A244V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198166	NM_001172679.2(ZNF764):c.709C>T (p.Arg237Trp)	ZNF764 (R237W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523666	NM_001172679.2(ZNF764):c.661C>T (p.Arg221Trp)	ZNF764 (R221W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299122	NM_001172679.2(ZNF764):c.590C>G (p.Thr197Ser)	ZNF764 (T197S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389241	NM_001172679.2(ZNF764):c.560C>T (p.Ser187Phe)	ZNF764 (S187F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295613	NM_001172679.2(ZNF764):c.559T>C (p.Ser187Pro)	ZNF764 (S187P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198165	NM_001172679.2(ZNF764):c.500T>G (p.Val167Gly)	ZNF764 (V167G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198164	NM_001172679.2(ZNF764):c.497C>G (p.Pro166Arg)	ZNF764 (P166R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198163	NM_001172679.2(ZNF764):c.343G>A (p.Glu115Lys)	ZNF764 (E116K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516034	NM_001172679.2(ZNF764):c.311A>G (p.Asp104Gly)	ZNF764 (D104G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472889	NM_001172679.2(ZNF764):c.307C>T (p.Pro103Ser)	ZNF764 (P103S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198162	NM_001172679.2(ZNF764):c.256G>A (p.Gly86Ser)	ZNF764 (G86S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213037	NM_001172679.2(ZNF764):c.251T>A (p.Leu84Gln)	ZNF764 (L84Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376087	NM_001172679.2(ZNF764):c.175T>G (p.Tyr59Asp)	ZNF764 (Y59D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198160	NM_001172679.2(ZNF764):c.170A>T (p.Glu57Val)	ZNF764 (E57V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198159	NM_001172679.2(ZNF764):c.145G>A (p.Ala49Thr)	ZNF764 (A49T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473276	NM_001172679.2(ZNF764):c.130C>T (p.Arg44Trp)	ZNF764 (R44W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228393	NM_001172679.2(ZNF764):c.109C>T (p.Arg37Trp)	ZNF764 (R37W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259440	NM_001172679.2(ZNF764):c.17C>T (p.Ala6Val)	ZNF764 (A6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243573	NC_000016.9:g.(?_28889993)_(31202759_?)del	ALDOA, ASPHD1 +76 more	Deletion	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1809415	GRCh37/hg19 16p11.2(chr16:30460206-30906733)x3	BCL7C, CFAP119 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1330201	GRCh37/hg19 16p11.2(chr16:29808153-30750270)x3	ALDOA, ASPHD1 +42 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 1330157	GRCh37/hg19 16p11.2(chr16:29974415-30596982)x1	ALDOA, BOLA2B +29 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GLikely pathogenic
Select item 979443	GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	STX4, DCTPP1 +52 more	Copy number gain	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 598742	Single allele	TGFB1I1, TRIM72 +38 more	Deletion	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395300	GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	AHSP, ALDOA +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 394674	GRCh37/hg19 16p11.2(chr16:30515442-30792856)x1	CFAP119, FBRS +12 more	Copy number loss	See cases	GUncertain significance
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221517	GRCh37/hg19 16p11.2(chr16:30391304-31122666)x3	BCKDK, BCL7C +30 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 56