ZNF629[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	AHSP, ARMC5 +136 more	Copy number gain	See cases	GPathogenic
Select item 2549475	NM_001080417.3(ZNF629):c.2596G>C (p.Gly866Arg)	ZNF629 (G866R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242123	NM_001080417.3(ZNF629):c.2548G>A (p.Gly850Ser)	ZNF629 (G850S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777007	NM_001080417.3(ZNF629):c.2480A>T (p.His827Leu)	ZNF629 (H813L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2261050	NM_001080417.3(ZNF629):c.2455C>G (p.Pro819Ala)	ZNF629 (P805A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353075	NM_001080417.3(ZNF629):c.2449G>A (p.Glu817Lys)	ZNF629 (E803K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197343	NM_001080417.3(ZNF629):c.2437G>A (p.Glu813Lys)	ZNF629 (E813K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197342	NM_001080417.3(ZNF629):c.2398G>T (p.Asp800Tyr)	ZNF629 (D786Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378193	NM_001080417.3(ZNF629):c.2393C>T (p.Pro798Leu)	ZNF629 (P784L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548509	NM_001080417.3(ZNF629):c.2338C>T (p.Arg780Cys)	ZNF629 (R766C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540736	NM_001080417.3(ZNF629):c.2306G>C (p.Arg769Pro)	ZNF629 (R755P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318749	NM_001080417.3(ZNF629):c.2260G>T (p.Val754Phe)	ZNF629 (V740F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355506	NM_001080417.3(ZNF629):c.2223C>G (p.Ser741Arg)	ZNF629 (S741R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617328	NM_001080417.3(ZNF629):c.2131G>A (p.Gly711Arg)	ZNF629 (G697R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618672	NM_001080417.3(ZNF629):c.1928C>T (p.Pro643Leu)	ZNF629 (P629L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197341	NM_001080417.3(ZNF629):c.1924A>C (p.Lys642Gln)	ZNF629 (K628Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617779	NM_001080417.3(ZNF629):c.1858C>G (p.Pro620Ala)	ZNF629 (P620A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345907	NM_001080417.3(ZNF629):c.1805G>A (p.Gly602Asp)	ZNF629 (G602D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297247	NM_001080417.3(ZNF629):c.1804G>A (p.Gly602Ser)	ZNF629 (G588S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368647	NM_001080417.3(ZNF629):c.1668C>A (p.Asp556Glu)	ZNF629 (D542E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479380	NM_001080417.3(ZNF629):c.1664G>C (p.Gly555Ala)	ZNF629 (G555A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197340	NM_001080417.3(ZNF629):c.1658G>T (p.Gly553Val)	ZNF629 (G553V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197339	NM_001080417.3(ZNF629):c.1634G>A (p.Arg545Lys)	ZNF629 (R545K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251177	NM_001080417.3(ZNF629):c.1321A>G (p.Met441Val)	ZNF629 (M441V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197338	NM_001080417.3(ZNF629):c.1229G>C (p.Ser410Thr)	ZNF629 (S396T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197348	NM_001080417.3(ZNF629):c.877C>T (p.Pro293Ser)	ZNF629 (P279S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197347	NM_001080417.3(ZNF629):c.826G>A (p.Asp276Asn)	ZNF629 (D276N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618942	NM_001080417.3(ZNF629):c.772G>A (p.Gly258Ser)	ZNF629 (G244S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197346	NM_001080417.3(ZNF629):c.385C>T (p.Pro129Ser)	ZNF629 (P115S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221797	NM_001080417.3(ZNF629):c.338G>C (p.Ser113Thr)	ZNF629 (S99T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197345	NM_001080417.3(ZNF629):c.326C>T (p.Ala109Val)	ZNF629 (A109V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223509	NM_001080417.3(ZNF629):c.292G>A (p.Glu98Lys)	ZNF629 (E84K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454871	NM_001080417.3(ZNF629):c.259G>C (p.Asp87His)	ZNF629 (D73H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724646	NM_001080417.3(ZNF629):c.175A>T (p.Thr59Ser)	ZNF629 (T45S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2351156	NM_001080417.3(ZNF629):c.113A>G (p.Glu38Gly)	ZNF629 (E38G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197337	NM_001080417.3(ZNF629):c.104C>A (p.Pro35His)	ZNF629 (P21H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197349	NM_001080417.3(ZNF629):c.94G>A (p.Glu32Lys)	ZNF629 (E18K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427156	NC_000016.9:g.(?_30712146)_(31021717_?)dup	FBXL19, HSD3B7 +10 more	Duplication	Generalized epilepsy with febrile seizures plus, type 9	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 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 443355	GRCh37/hg19 16p11.2(chr16:30607048-31117069)x1	BCL7C, CFAP119 +18 more	Copy number loss	See cases	GUncertain significance
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +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)	ITGAM, NPIPA3 +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: 55