Related gene-specific medical variations for Gene (Select 9557) - ClinVar

Links from Gene

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3347845	NM_004284.6(CHD1L):c.111G>A (p.Arg37=)	CHD1L, LOC129931354	Single nucleotide variant (5 prime UTR variant +3 more)	CHD1L-related disorder	GLikely benign
Select item 3279361	NM_001461.4(FMO5):c.685G>A (p.Gly229Arg)	CHD1L, FMO5 (G229R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279360	NM_001461.4(FMO5):c.28G>T (p.Gly10Trp)	CHD1L, FMO5 (G10W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266838	NM_004284.6(CHD1L):c.86C>T (p.Ala29Val)	CHD1L, LOC129931354 (A29V)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3266836	NM_004284.6(CHD1L):c.117G>C (p.Trp39Cys)	CHD1L, LOC129931354 (W39C)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3266835	NM_004284.6(CHD1L):c.112C>A (p.Gln38Lys)	CHD1L, LOC129931354 (Q38K)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3266834	NM_004284.6(CHD1L):c.34C>A (p.Gln12Lys)	CHD1L, LOC129931354 (Q12K)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3266828	NM_004284.6(CHD1L):c.2417G>A (p.Arg806His)	CHD1L, LOC126805854 (R706H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144098	NM_004284.6(CHD1L):c.28G>C (p.Gly10Arg)	CHD1L, LOC129931354 (G10R)	Single nucleotide variant (missense variant +3 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 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 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 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 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 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 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 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 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 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 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 3051556	NM_004284.6(CHD1L):c.36A>G (p.Gln12=)	CHD1L, LOC129931354	Single nucleotide variant (5 prime UTR variant +3 more)	CHD1L-related disorder	GLikely benign
Select item 3044834	NM_004284.6(CHD1L):c.23G>T (p.Ser8Ile)	CHD1L, LOC129931354 (S8I)	Single nucleotide variant (5 prime UTR variant +3 more)	CHD1L-related disorder	GLikely benign
Select item 2688771	NM_004284.6(CHD1L):c.2364del (p.Glu789fs)	CHD1L (E508fs +7 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2688770	NM_004284.6(CHD1L):c.762G>T (p.Leu254Phe)	CHD1L (L102F +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2688769	NM_004284.6(CHD1L):c.676dup (p.Ser226fs)	CHD1L (S113fs +5 more)	Duplication (frameshift variant +3 more)	not provided	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 2598190	NM_001461.4(FMO5):c.67G>A (p.Val23Ile)	CHD1L, FMO5 (V23I)	Single nucleotide variant (missense variant +1 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2403766	NM_004284.6(CHD1L):c.35A>G (p.Gln12Arg)	CHD1L, LOC129931354 (Q12R)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1549942	NM_004284.6(CHD1L):c.2479A>G (p.Ile827Val)	LOC126805854, CHD1L (I546V +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1297886	NM_001348451.2(CHD1L):c.-89-9992=	CHD1L, LOC129931354	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289380	NM_004284.6(CHD1L):c.127+108=	CHD1L, LOC129931354	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273099	NM_004284.6(CHD1L):c.39C>T (p.Ala13=)	CHD1L, LOC129931354	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GBenign
Select item 1260082	NM_004284.6(CHD1L):c.74G>C (p.Arg25Pro)	CHD1L, LOC129931354 (R25P)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GBenign
Select item 1249305	NM_004284.6(CHD1L):c.2392-167=	CHD1L, LOC126805854	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245929	NM_001348451.2(CHD1L):c.-89-10060C>T	CHD1L, LOC129931354	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238506	NM_004284.6(CHD1L):c.2506+211C>T	CHD1L, LOC126805854	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236962	NM_004284.6(CHD1L):c.39= (p.Ala13=)	CHD1L, LOC129931354	Single nucleotide variant (no sequence alteration +2 more)	not provided	GBenign
Select item 1232087	NM_004284.6(CHD1L):c.2506+48C>G	CHD1L, LOC126805854	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230970	NM_001348451.2(CHD1L):c.-89-10018=	CHD1L, LOC129931354	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213806	NM_004284.6(CHD1L):c.459T>G (p.Tyr153Ter)	CHD1L (M1R +4 more)	Single nucleotide variant (nonsense +5 more)	not provided	GUncertain significance
Select item 785842	NM_001461.4(FMO5):c.496A>G (p.Lys166Glu)	CHD1L, FMO5 (K166E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 783294	NM_001461.4(FMO5):c.999C>T (p.Ser333=)	CHD1L, FMO5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 781779	NM_001461.4(FMO5):c.1172A>G (p.Gln391Arg)	CHD1L, FMO5 (Q391R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 758686	NM_001461.4(FMO5):c.1183+7G>A	CHD1L, FMO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 737457	NM_004284.6(CHD1L):c.1A>T (p.Met1Leu)	CHD1L, LOC129931354 (M1L)	Single nucleotide variant (5 prime UTR variant +4 more)	not provided	GLikely benign
Select item 499051	NM_004284.6(CHD1L):c.2410C>T (p.Gln804Ter)	CHD1L, LOC126805854 (Q804* +7 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GLikely benign
Select item 443767	GRCh37/hg19 1q21.1(chr1:146717785-146970568)x1	CHD1L	Copy number loss	See cases	GUncertain significance

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Items: 86