ZNF747[gene] - ClinVar

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Items: 32

	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 2238540	NM_001305018.2(ZNF747):c.290A>G (p.Asp97Gly)	ZNF747 (D97G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2392721	NM_001305018.2(ZNF747):c.276G>C (p.Lys92Asn)	ZNF747 (R139T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259401	NM_001305018.2(ZNF747):c.270G>A (p.Glu90=)	ZNF747 (R137K)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3259402	NM_001305018.2(ZNF747):c.263G>A (p.Trp88Ter)	ZNF747 (W88* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 2563405	NM_001305018.2(ZNF747):c.230-14T>C	ZNF747 (V119A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198092	NM_001305018.2(ZNF747):c.230-32C>T	ZNF747 (S113L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570451	NM_001305018.2(ZNF747):c.230-33T>C	ZNF747 (S113P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2605042	NM_001305018.2(ZNF747):c.121G>C (p.Asp41His)	ZNF747 (D41H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302810	NM_001305018.2(ZNF747):c.93G>C (p.Trp31Cys)	ZNF747 (W31C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560714	NM_001305018.2(ZNF747):c.80C>G (p.Ala27Gly)	ZNF747 (A27G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339077	NM_001305018.2(ZNF747):c.7G>C (p.Asp3His)	ZNF747 (D3H)	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 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: 32