ClinVar for Gene (Select 84256) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3095787	NM_001308068.2(FLYWCH1):c.980G>A (p.Arg327His)	FLYWCH1 (R326H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095786	NM_001308068.2(FLYWCH1):c.892G>C (p.Asp298His)	FLYWCH1 (D297H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095785	NM_001308068.2(FLYWCH1):c.81C>A (p.Asp27Glu)	FLYWCH1 (D27E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095784	NM_001308068.2(FLYWCH1):c.625G>C (p.Gly209Arg)	FLYWCH1 (G208R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095783	NM_001308068.2(FLYWCH1):c.523G>A (p.Ala175Thr)	FLYWCH1 (A174T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095782	NM_001308068.2(FLYWCH1):c.49G>A (p.Gly17Ser)	FLYWCH1 (G17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095781	NM_001308068.2(FLYWCH1):c.352A>G (p.Arg118Gly)	FLYWCH1 (R118G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095780	NM_001308068.2(FLYWCH1):c.312C>A (p.Ser104Arg)	FLYWCH1 (S104R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095779	NM_001308068.2(FLYWCH1):c.2043G>C (p.Glu681Asp)	FLYWCH1 (E680D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095778	NM_001308068.2(FLYWCH1):c.1999G>A (p.Ala667Thr)	FLYWCH1 (A666T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095777	NM_001308068.2(FLYWCH1):c.1894C>T (p.Arg632Trp)	FLYWCH1 (R632W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095776	NM_001308068.2(FLYWCH1):c.1621C>T (p.Arg541Trp)	FLYWCH1 (R540W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095775	NM_001308068.2(FLYWCH1):c.1535C>T (p.Thr512Met)	FLYWCH1 (T512M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095774	NM_001308068.2(FLYWCH1):c.1516G>A (p.Gly506Ser)	FLYWCH1 (G505S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095773	NM_001308068.2(FLYWCH1):c.1414A>C (p.Thr472Pro)	FLYWCH1 (T471P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095772	NM_001308068.2(FLYWCH1):c.1381C>T (p.Arg461Cys)	FLYWCH1 (R460C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095771	NM_001308068.2(FLYWCH1):c.1369C>T (p.Arg457Cys)	FLYWCH1 (R456C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095770	NM_001308068.2(FLYWCH1):c.1302G>C (p.Glu434Asp)	FLYWCH1 (E433D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095769	NM_001308068.2(FLYWCH1):c.1292T>C (p.Leu431Pro)	FLYWCH1 (L431P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095767	NM_001308068.2(FLYWCH1):c.1069G>A (p.Gly357Ser)	FLYWCH1 (G356S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095766	NM_001308068.2(FLYWCH1):c.1022G>A (p.Arg341Gln)	FLYWCH1 (R341Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095765	NM_001308068.2(FLYWCH1):c.1005G>A (p.Met335Ile)	FLYWCH1 (M334I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	ADCY9, ANKS3 +52 more	Copy number loss	not provided	GPathogenic
Select item 3024594	GRCh37/hg19 16p13.3(chr16:2979687-3220680)x3	BICDL2, CLDN6 +13 more	Copy number gain	not provided	GUncertain significance
Select item 2684776	GRCh37/hg19 16p13.3(chr16:2643569-3716657)x3	BICDL2, C16orf90 +42 more	Copy number gain	not provided	GUncertain significance
Select item 2684774	GRCh37/hg19 16p13.3(chr16:2606711-3935836)x3	BICDL2, C16orf90 +43 more	Copy number gain	not provided	GPathogenic
Select item 2646092	NM_001308068.2(FLYWCH1):c.2139C>T (p.Gly713=)	FLYWCH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646091	NM_001308068.2(FLYWCH1):c.2124C>T (p.Asp708=)	FLYWCH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646090	NM_001308068.2(FLYWCH1):c.1428T>G (p.Gly476=)	FLYWCH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646089	NM_001308068.2(FLYWCH1):c.1341G>A (p.Lys447=)	FLYWCH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646088	NM_001308068.2(FLYWCH1):c.662C>T (p.Pro221Leu)	FLYWCH1 (P220L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2646087	NM_001308068.2(FLYWCH1):c.474G>A (p.Arg158=)	FLYWCH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646086	NM_001308068.2(FLYWCH1):c.320A>G (p.Asp107Gly)	FLYWCH1 (D107G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2646085	NM_001308068.2(FLYWCH1):c.108C>G (p.Pro36=)	FLYWCH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2612955	NM_001308068.2(FLYWCH1):c.1372A>G (p.Met458Val)	FLYWCH1 (M458V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611740	NM_001308068.2(FLYWCH1):c.1953G>C (p.Met651Ile)	FLYWCH1 (M650I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610142	NM_001308068.2(FLYWCH1):c.983G>C (p.Gly328Ala)	FLYWCH1 (G328A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606659	NM_001308068.2(FLYWCH1):c.202C>A (p.Leu68Met)	FLYWCH1 (L68M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605675	NM_001308068.2(FLYWCH1):c.1216C>A (p.Pro406Thr)	FLYWCH1 (P405T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595257	NM_001308068.2(FLYWCH1):c.494G>A (p.Arg165Gln)	FLYWCH1 (R164Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594371	NM_001308068.2(FLYWCH1):c.1100G>A (p.Arg367Gln)	FLYWCH1 (R366Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2593292	NM_001308068.2(FLYWCH1):c.485G>A (p.Arg162Gln)	FLYWCH1 (R161Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589315	NM_001308068.2(FLYWCH1):c.953C>A (p.Thr318Asn)	FLYWCH1 (T317N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564698	NM_001308068.2(FLYWCH1):c.1133C>T (p.Pro378Leu)	FLYWCH1 (P377L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560814	NM_001308068.2(FLYWCH1):c.1199C>T (p.Pro400Leu)	FLYWCH1 (P400L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558444	NM_001308068.2(FLYWCH1):c.1715G>A (p.Gly572Asp)	FLYWCH1 (G572D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558086	NM_001308068.2(FLYWCH1):c.442C>T (p.Arg148Cys)	FLYWCH1 (R147C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539366	NM_001308068.2(FLYWCH1):c.1474C>G (p.Arg492Gly)	FLYWCH1 (R492G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536247	NM_001308068.2(FLYWCH1):c.435G>C (p.Trp145Cys)	FLYWCH1 (W145C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531896	NM_001308068.2(FLYWCH1):c.595T>A (p.Leu199Met)	FLYWCH1 (L198M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520120	NM_001308068.2(FLYWCH1):c.1672C>T (p.Arg558Trp)	FLYWCH1 (R558W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514254	NM_001308068.2(FLYWCH1):c.1105G>A (p.Val369Met)	FLYWCH1 (V369M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513821	NM_001308068.2(FLYWCH1):c.1502G>A (p.Arg501Gln)	FLYWCH1 (R500Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513381	NM_001308068.2(FLYWCH1):c.220G>A (p.Ala74Thr)	FLYWCH1 (A74T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486837	NM_001308068.2(FLYWCH1):c.884C>T (p.Ala295Val)	FLYWCH1 (A294V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476659	NM_001308068.2(FLYWCH1):c.790G>A (p.Gly264Arg)	FLYWCH1 (G263R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475184	NM_001308068.2(FLYWCH1):c.1228C>G (p.Gln410Glu)	FLYWCH1 (Q409E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471424	NM_001308068.2(FLYWCH1):c.1583G>A (p.Arg528Gln)	FLYWCH1 (R527Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465031	NM_001308068.2(FLYWCH1):c.1148T>C (p.Leu383Pro)	FLYWCH1 (L383P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462623	NM_001308068.2(FLYWCH1):c.77C>T (p.Thr26Met)	FLYWCH1 (T26M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459817	NM_001308068.2(FLYWCH1):c.1706C>T (p.Pro569Leu)	FLYWCH1 (P569L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458747	NM_001308068.2(FLYWCH1):c.1075G>C (p.Gly359Arg)	FLYWCH1 (G358R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	PRSS21, PRSS22 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2407038	NM_001308068.2(FLYWCH1):c.1042G>A (p.Val348Met)	FLYWCH1 (V347M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2401915	NM_001308068.2(FLYWCH1):c.193G>A (p.Val65Ile)	FLYWCH1 (V65I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401182	NM_001308068.2(FLYWCH1):c.782C>T (p.Ser261Leu)	FLYWCH1 (S261L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388314	NM_001308068.2(FLYWCH1):c.1172G>C (p.Arg391Pro)	FLYWCH1 (R390P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384832	NM_001308068.2(FLYWCH1):c.910T>G (p.Cys304Gly)	FLYWCH1 (C303G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373424	NM_001308068.2(FLYWCH1):c.550C>T (p.Arg184Trp)	FLYWCH1 (R183W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371942	NM_001308068.2(FLYWCH1):c.346T>C (p.Phe116Leu)	FLYWCH1 (F116L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366430	NM_001308068.2(FLYWCH1):c.1227C>G (p.His409Gln)	FLYWCH1 (H409Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365389	NM_001308068.2(FLYWCH1):c.1925G>A (p.Arg642His)	FLYWCH1 (R642H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361950	NM_001308068.2(FLYWCH1):c.1927G>A (p.Ala643Thr)	FLYWCH1 (A642T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354120	NM_001308068.2(FLYWCH1):c.1483C>T (p.Arg495Cys)	FLYWCH1 (R494C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350901	NM_001308068.2(FLYWCH1):c.727G>A (p.Glu243Lys)	FLYWCH1 (E242K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338645	NM_001308068.2(FLYWCH1):c.838G>C (p.Gly280Arg)	FLYWCH1 (G279R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338197	NM_001308068.2(FLYWCH1):c.1774C>G (p.Pro592Ala)	FLYWCH1 (P591A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334761	NM_001308068.2(FLYWCH1):c.719C>T (p.Ala240Val)	FLYWCH1 (A240V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327579	NM_001308068.2(FLYWCH1):c.964C>T (p.Arg322Trp)	FLYWCH1 (R322W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323147	NM_001308068.2(FLYWCH1):c.371G>A (p.Arg124His)	FLYWCH1 (R123H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320472	NM_001308068.2(FLYWCH1):c.46G>T (p.Ala16Ser)	FLYWCH1 (A16S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318839	NM_001308068.2(FLYWCH1):c.2030C>T (p.Thr677Met)	FLYWCH1 (T676M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313826	NM_001308068.2(FLYWCH1):c.1111A>T (p.Ser371Cys)	FLYWCH1 (S371C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293697	NM_001308068.2(FLYWCH1):c.1544G>A (p.Gly515Glu)	FLYWCH1 (G514E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291924	NM_001308068.2(FLYWCH1):c.449A>G (p.His150Arg)	FLYWCH1 (H149R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290566	NM_001308068.2(FLYWCH1):c.1049C>T (p.Thr350Met)	FLYWCH1 (T349M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289916	NM_001308068.2(FLYWCH1):c.949A>G (p.Ile317Val)	FLYWCH1 (I317V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278500	NM_001308068.2(FLYWCH1):c.473G>A (p.Arg158Gln)	FLYWCH1 (R158Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278498	NM_001308068.2(FLYWCH1):c.402G>C (p.Lys134Asn)	FLYWCH1 (K134N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259732	NM_001308068.2(FLYWCH1):c.112G>A (p.Glu38Lys)	FLYWCH1 (E38K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2256705	NM_001308068.2(FLYWCH1):c.415G>A (p.Val139Met)	FLYWCH1 (V139M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255949	NM_001308068.2(FLYWCH1):c.2011C>T (p.Arg671Trp)	FLYWCH1 (R670W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254256	NM_001308068.2(FLYWCH1):c.1357C>T (p.Arg453Trp)	FLYWCH1 (R453W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235860	NM_001308068.2(FLYWCH1):c.1597G>T (p.Gly533Trp)	FLYWCH1 (G532W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234539	NM_001308068.2(FLYWCH1):c.1012C>G (p.Leu338Val)	FLYWCH1 (L337V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230014	NM_001308068.2(FLYWCH1):c.1403G>A (p.Gly468Asp)	FLYWCH1 (G467D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222400	NM_001308068.2(FLYWCH1):c.806G>A (p.Arg269Gln)	FLYWCH1 (R269Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2220828	NM_001308068.2(FLYWCH1):c.1873G>C (p.Glu625Gln)	FLYWCH1 (E624Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219885	NM_001308068.2(FLYWCH1):c.1800C>G (p.Phe600Leu)	FLYWCH1 (F599L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215709	NM_001308068.2(FLYWCH1):c.1160G>A (p.Arg387Gln)	FLYWCH1 (R386Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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