"Ambry Genetics"[submitter] AND "CHD1L"[gene] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2593042	NM_001461.4(FMO5):c.1591G>C (p.Ala531Pro)	CHD1L, FMO5 (A531P)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2205287	NM_001461.4(FMO5):c.1571C>A (p.Ala524Asp)	CHD1L, FMO5 (A524D)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3095915	NM_001461.4(FMO5):c.1535C>T (p.Ser512Leu)	CHD1L, FMO5 (S512L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2214675	NM_001461.4(FMO5):c.1480C>T (p.Arg494Cys)	CHD1L, FMO5 (R494C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2370653	NM_001461.4(FMO5):c.1477G>A (p.Asp493Asn)	CHD1L, FMO5 (D493N)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2594157	NM_001461.4(FMO5):c.1421G>A (p.Arg474His)	CHD1L, FMO5 (R474H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2320028	NM_001461.4(FMO5):c.1418A>G (p.Tyr473Cys)	CHD1L, FMO5 (Y473C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2301496	NM_001461.4(FMO5):c.1409C>T (p.Pro470Leu)	CHD1L, FMO5 (P470L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2523908	NM_001461.4(FMO5):c.1408C>G (p.Pro470Ala)	CHD1L, FMO5 (P470A)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3095914	NM_001461.4(FMO5):c.1397G>A (p.Gly466Glu)	CHD1L, FMO5 (G466E)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2593192	NM_001461.4(FMO5):c.1382T>C (p.Leu461Ser)	CHD1L, FMO5 (L461S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2493619	NM_001461.4(FMO5):c.1375C>G (p.Leu459Val)	CHD1L, FMO5 (L459V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2237765	NM_001461.4(FMO5):c.1304C>A (p.Thr435Asn)	CHD1L, FMO5 (T435N)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3095913	NM_001461.4(FMO5):c.1273C>T (p.Arg425Cys)	CHD1L, FMO5 (R425C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2485924	NM_001461.4(FMO5):c.1261G>A (p.Val421Met)	CHD1L, FMO5 (V421M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3095912	NM_001461.4(FMO5):c.1250A>G (p.Asp417Gly)	CHD1L, FMO5 (D417G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3095911	NM_001461.4(FMO5):c.1247T>C (p.Ile416Thr)	CHD1L, FMO5 (I416T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2308209	NM_001461.4(FMO5):c.1162T>C (p.Trp388Arg)	CHD1L, FMO5 (W388R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588575	NM_001461.4(FMO5):c.1159C>T (p.Arg387Cys)	CHD1L, FMO5 (R387C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095910	NM_001461.4(FMO5):c.1111T>A (p.Leu371Met)	CHD1L, FMO5 (L371M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095909	NM_001461.4(FMO5):c.1102A>C (p.Ile368Leu)	CHD1L, FMO5 (I368L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371544	NM_001461.4(FMO5):c.968T>C (p.Ile323Thr)	CHD1L, FMO5 (I323T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095922	NM_001461.4(FMO5):c.958G>A (p.Glu320Lys)	CHD1L, FMO5 (E320K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362693	NM_001461.4(FMO5):c.940T>A (p.Phe314Ile)	CHD1L, FMO5 (F314I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559486	NM_001461.4(FMO5):c.904G>C (p.Gly302Arg)	CHD1L, FMO5 (G302R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370696	NM_001461.4(FMO5):c.874C>T (p.Arg292Cys)	CHD1L, FMO5 (R292C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482272	NM_001461.4(FMO5):c.842A>G (p.Gln281Arg)	CHD1L, FMO5 (Q281R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095920	NM_001461.4(FMO5):c.673G>A (p.Val225Ile)	CHD1L, FMO5 (V225I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240091	NM_001461.4(FMO5):c.655G>A (p.Ala219Thr)	CHD1L, FMO5 (A219T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270380	NM_001461.4(FMO5):c.622G>A (p.Ala208Thr)	CHD1L, FMO5 (A208T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095919	NM_001461.4(FMO5):c.602C>A (p.Ala201Asp)	CHD1L, FMO5 (A201D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607914	NM_001461.4(FMO5):c.592G>A (p.Gly198Arg)	CHD1L, FMO5 (G198R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461899	NM_001461.4(FMO5):c.528C>G (p.Asp176Glu)	CHD1L, FMO5 (D176E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594121	NM_001461.4(FMO5):c.524G>A (p.Arg175Gln)	CHD1L, FMO5 (R175Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410646	NM_001461.4(FMO5):c.516C>A (p.Phe172Leu)	CHD1L, FMO5 (F172L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511209	NM_001461.4(FMO5):c.443C>A (p.Thr148Asn)	CHD1L, FMO5 (T148N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095917	NM_001461.4(FMO5):c.434T>C (p.Met145Thr)	CHD1L, FMO5 (M145T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256913	NM_001461.4(FMO5):c.423T>G (p.Phe141Leu)	CHD1L, FMO5 (F141L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396431	NM_001461.4(FMO5):c.401G>A (p.Gly134Glu)	CHD1L, FMO5 (G134E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095916	NM_001461.4(FMO5):c.328A>G (p.Thr110Ala)	CHD1L, FMO5 (T110A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522787	NM_001461.4(FMO5):c.262G>A (p.Val88Ile)	CHD1L, FMO5 (V88I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494799	NM_001461.4(FMO5):c.244T>C (p.Phe82Leu)	CHD1L, FMO5 (F82L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466827	NM_001461.4(FMO5):c.173C>T (p.Ser58Leu)	CHD1L, FMO5 (S58L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545889	NM_001461.4(FMO5):c.106G>T (p.Asp36Tyr)	CHD1L, FMO5 (D36Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598190	NM_001461.4(FMO5):c.67G>A (p.Val23Ile)	FMO5, CHD1L (V23I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095918	NM_001461.4(FMO5):c.53C>T (p.Ser18Phe)	CHD1L, FMO5 (S18F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335278	NM_001461.4(FMO5):c.31G>A (p.Gly11Arg)	CHD1L, FMO5 (G11R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537805	NM_004284.6(CHD1L):c.17C>G (p.Ala6Gly)	CHD1L, LOC129931354 (A6G)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3144098	NM_004284.6(CHD1L):c.28G>C (p.Gly10Arg)	CHD1L, LOC129931354 (G10R)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2403766	NM_004284.6(CHD1L):c.35A>G (p.Gln12Arg)	CHD1L, LOC129931354 (Q12R)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2543257	NM_004284.6(CHD1L):c.47T>A (p.Phe16Tyr)	CHD1L, LOC129931354 (F16Y)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3144093	NM_004284.6(CHD1L):c.226G>T (p.Gly76Trp)	CHD1L (W11C +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3144095	NM_004284.6(CHD1L):c.236G>T (p.Cys79Phe)	CHD1L (C7F +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2461451	NM_004284.6(CHD1L):c.307C>T (p.Pro103Ser)	CHD1L (P31S +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2232578	NM_004284.6(CHD1L):c.413A>C (p.Gln138Pro)	CHD1L (Q66P +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2342689	NM_004284.6(CHD1L):c.433C>T (p.Arg145Cys)	CHD1L (R73C +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2588813	NM_004284.6(CHD1L):c.463A>T (p.Ile155Phe)	CHD1L (I55F +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2604277	NM_004284.6(CHD1L):c.587T>C (p.Val196Ala)	CHD1L (V196A +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2406030	NM_004284.6(CHD1L):c.605C>T (p.Thr202Ile)	CHD1L (T130I +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3144100	NM_004284.6(CHD1L):c.608G>C (p.Gly203Ala)	CHD1L (G90A +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2263789	NM_004284.6(CHD1L):c.624C>G (p.Asn208Lys)	CHD1L (N45K +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3144101	NM_004284.6(CHD1L):c.665C>T (p.Pro222Leu)	CHD1L (P122L +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2264156	NM_004284.6(CHD1L):c.719T>C (p.Ile240Thr)	CHD1L (I240T +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2619866	NM_004284.6(CHD1L):c.829G>A (p.Val277Met)	CHD1L (V114M +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3144102	NM_004284.6(CHD1L):c.835T>C (p.Tyr279His)	CHD1L (Y116H +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2257254	NM_004284.6(CHD1L):c.869A>G (p.Tyr290Cys)	CHD1L (Y138C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341263	NM_004284.6(CHD1L):c.983T>G (p.Phe328Cys)	CHD1L (F124C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290540	NM_004284.6(CHD1L):c.1081T>C (p.Ser361Pro)	CHD1L (S209P +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549978	NM_004284.6(CHD1L):c.1337A>G (p.Gln446Arg)	CHD1L (Q333R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366920	NM_004284.6(CHD1L):c.1415G>A (p.Arg472Gln)	CHD1L (R191Q +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597839	NM_004284.6(CHD1L):c.1469C>T (p.Thr490Ile)	CHD1L (T286I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144087	NM_004284.6(CHD1L):c.1519G>A (p.Ala507Thr)	CHD1L (A226T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382383	NM_004284.6(CHD1L):c.1595C>T (p.Thr532Ile)	CHD1L (T328I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549845	NM_004284.6(CHD1L):c.1597A>G (p.Met533Val)	CHD1L (M433V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305146	NM_004284.6(CHD1L):c.1706A>G (p.Lys569Arg)	CHD1L (K456R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144089	NM_004284.6(CHD1L):c.1723T>C (p.Phe575Leu)	CHD1L (F412L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209513	NM_004284.6(CHD1L):c.1781A>C (p.Gln594Pro)	CHD1L (Q522P +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2296633	NM_004284.6(CHD1L):c.1825G>A (p.Glu609Lys)	CHD1L (E405K +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511293	NM_004284.6(CHD1L):c.1843A>T (p.Asn615Tyr)	CHD1L (N334Y +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 424912	NM_004284.6(CHD1L):c.1886C>A (p.Thr629Asn)	CHD1L (T629N +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3144090	NM_004284.6(CHD1L):c.2024C>T (p.Ala675Val)	CHD1L (A471V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144091	NM_004284.6(CHD1L):c.2073G>C (p.Glu691Asp)	CHD1L (E410D +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 423976	NM_004284.6(CHD1L):c.2179C>A (p.Pro727Thr)	CHD1L (P727T +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2323241	NM_004284.6(CHD1L):c.2180C>G (p.Pro727Arg)	CHD1L (P564R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614668	NM_004284.6(CHD1L):c.2212C>A (p.His738Asn)	CHD1L (H575N +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528772	NM_004284.6(CHD1L):c.2218G>C (p.Val740Leu)	CHD1L (V459L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220250	NM_004284.6(CHD1L):c.2218G>A (p.Val740Ile)	CHD1L (V640I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144092	NM_004284.6(CHD1L):c.2240G>C (p.Gly747Ala)	CHD1L (G466A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303186	NM_004284.6(CHD1L):c.2240G>T (p.Gly747Val)	CHD1L (G634V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616251	NM_004284.6(CHD1L):c.2266G>C (p.Glu756Gln)	CHD1L (E475Q +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144094	NM_004284.6(CHD1L):c.2296T>A (p.Tyr766Asn)	CHD1L (Y603N +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273915	NM_004284.6(CHD1L):c.2395G>T (p.Ala799Ser)	CHD1L, LOC126805854 (A518S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388652	NM_004284.6(CHD1L):c.2452G>A (p.Ala818Thr)	CHD1L, LOC126805854 (A746T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372343	NM_004284.6(CHD1L):c.2453C>T (p.Ala818Val)	CHD1L, LOC126805854 (A537V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519345	NM_004284.6(CHD1L):c.2518C>T (p.Leu840Phe)	CHD1L (L559F +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317585	NM_004284.6(CHD1L):c.2524C>T (p.Arg842Cys)	CHD1L (R638C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144096	NM_004284.6(CHD1L):c.2606C>A (p.Pro869Gln)	CHD1L (P717Q +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144097	NM_004284.6(CHD1L):c.2647C>T (p.Leu883Phe)	CHD1L (L783F +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551929	NM_004284.6(CHD1L):c.2657A>T (p.Gln886Leu)	CHD1L (Q773L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 99