79759[geneid] - ClinVar

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Items: 67

	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 150706	GRCh38/hg38 16p11.2(chr16:30960404-31066796)x1	HSD3B7, LOC130058885 +6 more	Copy number loss	See cases	GLikely benign
Select item 475337	NC_000016.10:g.(?_30992801)_(31068051_?)del	LOC130058885, LOC130058886 +4 more	Deletion	Generalized epilepsy with febrile seizures plus, type 9	GPathogenic
Select item 786291	NM_024706.5(ZNF668):c.1859G>A (p.Ter620=)	ZNF668	Single nucleotide variant (synonymous variant)	ZNF668-related disorder +1 more	GBenign/Likely benign
Select item 2514520	NM_024706.5(ZNF668):c.1763G>A (p.Arg588His)	ZNF668 (R588H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351985	NM_024706.5(ZNF668):c.1762C>T (p.Arg588Cys)	ZNF668 (R611C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332854	NM_024706.5(ZNF668):c.1666C>T (p.Arg556Trp)	ZNF668 (R556W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318984	NM_024706.5(ZNF668):c.1634C>G (p.Pro545Arg)	ZNF668 (P568R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197595	NM_024706.5(ZNF668):c.1625G>A (p.Arg542Gln)	ZNF668 (R542Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296283	NM_024706.5(ZNF668):c.1606C>G (p.Arg536Gly)	ZNF668 (R536G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033694	NM_024706.5(ZNF668):c.1590G>C (p.Leu530=)	ZNF668	Single nucleotide variant (synonymous variant)	ZNF668-related disorder	GLikely benign
Select item 1801801	NM_024706.5(ZNF668):c.1549G>C (p.Val517Leu)	ZNF668 (V517L +1 more)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 2290054	NM_024706.5(ZNF668):c.1465G>A (p.Ala489Thr)	ZNF668 (A512T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543777	NM_024706.5(ZNF668):c.1288G>T (p.Val430Leu)	ZNF668 (V430L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2172989	NM_024706.5(ZNF668):c.1276C>T (p.Gln426Ter)	ZNF668 (Q426* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2281707	NM_024706.5(ZNF668):c.1220T>G (p.Leu407Arg)	ZNF668 (L430R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197592	NM_024706.5(ZNF668):c.1149C>G (p.Ser383Arg)	ZNF668 (S406R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197591	NM_024706.5(ZNF668):c.1112G>A (p.Arg371Gln)	ZNF668 (R394Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1184622	NM_024706.5(ZNF668):c.1111C>T (p.Arg371Ter)	ZNF668 (R371* +1 more)	Single nucleotide variant (nonsense)	marked facial dysmorphism +4 more	GPathogenic
Select item 2330110	NM_024706.5(ZNF668):c.1102G>C (p.Glu368Gln)	ZNF668 (E368Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043623	NM_024706.5(ZNF668):c.1041G>A (p.Ala347=)	ZNF668	Single nucleotide variant (synonymous variant)	ZNF668-related disorder	GLikely benign
Select item 559574	NM_024706.5(ZNF668):c.1009A>G (p.Lys337Glu)	ZNF668 (K337E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1184621	NM_024706.5(ZNF668):c.955C>T (p.Gln319Ter)	ZNF668 (Q319* +1 more)	Single nucleotide variant (nonsense)	marked facial dysmorphism +5 more	GPathogenic
Select item 3197598	NM_024706.5(ZNF668):c.868T>G (p.Ser290Ala)	ZNF668 (S290A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197597	NM_024706.5(ZNF668):c.791T>A (p.Leu264His)	ZNF668 (L287H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237602	NM_024706.5(ZNF668):c.721T>A (p.Cys241Ser)	ZNF668 (C241S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281087	NM_024706.5(ZNF668):c.664C>T (p.Arg222Cys)	ZNF668 (R245C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244089	NM_024706.5(ZNF668):c.634C>T (p.Arg212Cys)	ZNF668 (R212C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339622	NM_024706.5(ZNF668):c.617C>T (p.Ala206Val)	ZNF668 (A206V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1302293	NM_024706.5(ZNF668):c.606C>T (p.Gly202=)	ZNF668	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2482443	NM_024706.5(ZNF668):c.559C>T (p.Arg187Trp)	ZNF668 (R187W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197596	NM_024706.5(ZNF668):c.550C>T (p.Arg184Cys)	ZNF668 (R207C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777008	NM_024706.5(ZNF668):c.546G>A (p.Val182=)	ZNF668	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2308883	NM_024706.5(ZNF668):c.493G>A (p.Glu165Lys)	ZNF668 (E188K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217411	NM_024706.5(ZNF668):c.382C>T (p.Arg128Cys)	ZNF668 (R128C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623218	NM_024706.5(ZNF668):c.298C>T (p.Arg100Cys)	ZNF668 (R100C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030139	NM_024706.5(ZNF668):c.273G>A (p.Lys91=)	ZNF668	Single nucleotide variant (synonymous variant)	ZNF668-related disorder	GLikely benign
Select item 2172990	NM_024706.5(ZNF668):c.270del (p.Lys91fs)	ZNF668 (K114fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2227201	NM_024706.5(ZNF668):c.211G>A (p.Gly71Arg)	ZNF668 (G71R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263942	NM_024706.5(ZNF668):c.156G>C (p.Glu52Asp)	ZNF668 (E52D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549301	NM_024706.5(ZNF668):c.148T>G (p.Ser50Ala)	ZNF668 (S73A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2538379	NM_024706.5(ZNF668):c.142G>A (p.Asp48Asn)	ZNF668 (D48N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259118	NM_024706.5(ZNF668):c.124G>A (p.Ala42Thr)	ZNF668 (A65T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197593	NM_024706.5(ZNF668):c.77C>A (p.Ser26Tyr)	ZNF668 (S26Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591772	NM_024706.5(ZNF668):c.46A>G (p.Lys16Glu)	ZNF668 (K39E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259117	NM_024706.5(ZNF668):c.14C>T (p.Ala5Val)	ZNF668 (A5V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594794	NM_024706.5(ZNF668):c.-22-106A>T	ZNF668 (D11V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3042322	NM_024706.5(ZNF668):c.-22-107G>A	ZNF668 (D11N)	Single nucleotide variant (missense variant +1 more)	ZNF668-related disorder	GLikely benign
Select item 3243573	NC_000016.9:g.(?_28889993)_(31202759_?)del	ALDOA, ASPHD1 +76 more	Deletion	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1526506	GRCh37/hg19 16p11.2(chr16:30943854-31171177)	PRSS53, PRSS8 +12 more	Copy number loss	not specified	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 687383	GRCh37/hg19 16p11.2(chr16:30851860-31156762)x1	BCKDK, BCL7C +14 more	Copy number loss	not provided	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 443135	GRCh37/hg19 16p11.2(chr16:30952806-31177641)x1	BCKDK, FBXL19 +12 more	Copy number loss	See cases	GLikely pathogenic
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 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: 67