16867[HGNC] - ClinVar

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Items: 82

	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 3143302	NM_001014979.3(CFAP119):c.128G>A (p.Arg43His)	CFAP119, RNF40 (R43H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266389	NM_001014979.3(CFAP119):c.106C>G (p.His36Asp)	CFAP119, RNF40 (H36D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3143312	NM_001014979.3(CFAP119):c.62T>A (p.Leu21His)	CFAP119, RNF40 (L21H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143311	NM_001014979.3(CFAP119):c.61C>A (p.Leu21Ile)	CFAP119, RNF40 (L21I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143307	NM_001014979.3(CFAP119):c.56A>G (p.Glu19Gly)	CFAP119, RNF40 (E19G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605030	NM_014771.4(RNF40):c.75G>C (p.Glu25Asp)	RNF40 (E25D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155426	NM_014771.4(RNF40):c.158A>G (p.Gln53Arg)	RNF40 (Q53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314915	NM_014771.4(RNF40):c.184C>T (p.Arg62Trp)	RNF40 (R62W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314017	NM_014771.4(RNF40):c.218T>A (p.Leu73His)	RNF40 (L73H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155428	NM_014771.4(RNF40):c.237G>A (p.Lys79=)	RNF40	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2321163	NM_014771.4(RNF40):c.380C>T (p.Thr127Ile)	RNF40 (T127I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155434	NM_014771.4(RNF40):c.391C>T (p.Pro131Ser)	RNF40 (P131S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540026	NM_014771.4(RNF40):c.456G>C (p.Met152Ile)	RNF40 (M152I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594549	NM_014771.4(RNF40):c.613C>T (p.Arg205Trp)	RNF40 (R205W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328641	NM_014771.4(RNF40):c.614G>A (p.Arg205Gln)	RNF40 (R205Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2390706	NM_014771.4(RNF40):c.635G>A (p.Arg212Gln)	RNF40 (R212Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155435	NM_014771.4(RNF40):c.647G>C (p.Arg216Pro)	RNF40 (R216P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409532	NM_014771.4(RNF40):c.647G>A (p.Arg216Gln)	RNF40 (R216Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412080	NM_014771.4(RNF40):c.692G>A (p.Arg231Gln)	RNF40 (R231Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480925	NM_014771.4(RNF40):c.734C>T (p.Thr245Ile)	RNF40 (T245I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384055	NM_014771.4(RNF40):c.1046G>A (p.Arg349His)	RNF40 (R349H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279453	NM_014771.4(RNF40):c.1101T>A (p.Asn367Lys)	RNF40 (N367K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397280	NM_014771.4(RNF40):c.1105C>T (p.Arg369Cys)	RNF40 (R369C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314917	NM_014771.4(RNF40):c.1129C>A (p.Leu377Ile)	RNF40 (L377I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223896	NM_014771.4(RNF40):c.1163A>G (p.Tyr388Cys)	RNF40 (Y388C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262695	NM_014771.4(RNF40):c.1184T>A (p.Phe395Tyr)	RNF40 (F395Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311028	NM_014771.4(RNF40):c.1253C>T (p.Ala418Val)	RNF40 (A418V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 737940	NM_014771.4(RNF40):c.1281C>T (p.Ile427=)	RNF40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2394002	NM_014771.4(RNF40):c.1366C>T (p.Arg456Cys)	RNF40 (R356C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155425	NM_014771.4(RNF40):c.1367G>T (p.Arg456Leu)	RNF40 (R356L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612981	NM_014771.4(RNF40):c.1544T>C (p.Ile515Thr)	RNF40 (I415T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314913	NM_014771.4(RNF40):c.1556G>A (p.Arg519Gln)	RNF40 (R419Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155427	NM_014771.4(RNF40):c.1600C>T (p.His534Tyr)	RNF40 (H534Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367762	NM_014771.4(RNF40):c.1631C>T (p.Ala544Val)	RNF40 (A444V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569710	NM_014771.4(RNF40):c.1778C>T (p.Thr593Ile)	RNF40 (T493I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314914	NM_014771.4(RNF40):c.1804C>T (p.Arg602Trp)	RNF40 (R502W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214735	NM_014771.4(RNF40):c.1811G>A (p.Arg604Gln)	RNF40 (R604Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362093	NM_014771.4(RNF40):c.1819G>C (p.Glu607Gln)	RNF40 (E607Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341460	NM_014771.4(RNF40):c.1849C>T (p.Arg617Trp)	RNF40 (R517W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314911	NM_014771.4(RNF40):c.1954C>T (p.Leu652Phe)	RNF40 (L552F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244709	NM_014771.4(RNF40):c.1969G>A (p.Ala657Thr)	RNF40 (A557T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514262	NM_014771.4(RNF40):c.2117G>A (p.Arg706His)	RNF40 (R606H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411861	NM_014771.4(RNF40):c.2122C>T (p.Arg708Trp)	RNF40 (R608W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314916	NM_014771.4(RNF40):c.2164G>A (p.Ala722Thr)	RNF40 (A722T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314912	NM_014771.4(RNF40):c.2191C>T (p.Arg731Trp)	RNF40 (R631W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155429	NM_014771.4(RNF40):c.2410C>T (p.Arg804Trp)	RNF40 (R704W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366492	NM_014771.4(RNF40):c.2434G>A (p.Glu812Lys)	RNF40 (E712K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768773	NM_014771.4(RNF40):c.2493= (p.Leu831=)	RNF40	Variation (synonymous variant +1 more)	not provided	GBenign
Select item 2247222	NM_014771.4(RNF40):c.2531G>T (p.Gly844Val)	RNF40 (G844V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404429	NM_014771.4(RNF40):c.2533G>A (p.Val845Met)	RNF40 (V845M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217796	NM_014771.4(RNF40):c.2539A>G (p.Lys847Glu)	RNF40 (K747E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155430	NM_014771.4(RNF40):c.2546T>C (p.Leu849Pro)	RNF40 (L849P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390871	NM_014771.4(RNF40):c.2638G>A (p.Val880Met)	RNF40 (V780M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155431	NM_014771.4(RNF40):c.2648G>A (p.Arg883Gln)	RNF40 (R883Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208570	NM_014771.4(RNF40):c.2672T>A (p.Leu891Gln)	RNF40 (L891Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460580	NM_014771.4(RNF40):c.2675C>G (p.Ala892Gly)	RNF40 (A892G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331932	NM_014771.4(RNF40):c.2683C>T (p.Arg895Trp)	RNF40 (R895W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710397	NM_014771.4(RNF40):c.2784C>T (p.Tyr928=)	RNF40	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3314918	NM_014771.4(RNF40):c.2845C>A (p.Pro949Thr)	RNF40 (P948T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261598	NM_014771.4(RNF40):c.2849G>A (p.Cys950Tyr)	RNF40 (C850Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603020	NM_014771.4(RNF40):c.2927A>G (p.Tyr976Cys)	RNF40 (Y876C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155433	NM_014771.4(RNF40):c.2950C>A (p.Pro984Thr)	RNF40 (P884T +2 more)	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 2427156	NC_000016.9:g.(?_30712146)_(31021717_?)dup	BCL7C, CFAP119 +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	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: 82