ClinVar for Gene (Select 23361) - ClinVar

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

Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 777007	NM_001080417.3(ZNF629):c.2480A>T (p.His827Leu)	ZNF629 (H813L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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	AGRP, AHSP +590 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 more	Copy number gain	See cases	GPathogenic
Select item 395300	GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	DOC2A, FBRS +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
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	RUSF1-DT, SETD1A +136 more	Copy number gain	See cases	GPathogenic

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: 55