SCYL1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152827	GRCh38/hg38 11q13.1(chr11:65327786-65626431)x3	LOC130006016, LOC130006017 +80 more	Copy number gain	See cases	GUncertain significance
Select item 152640	GRCh38/hg38 11q13.1(chr11:65520831-65695349)x3	EHBP1L1, FAM89B +45 more	Copy number gain	See cases	GUncertain significance
Select item 3158820	NM_020680.4(SCYL1):c.29G>A (p.Arg10Gln)	LOC130006026, SCYL1 (R10Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158823	NM_020680.4(SCYL1):c.50T>C (p.Ile17Thr)	LOC130006026, SCYL1 (I17T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038750	NM_020680.4(SCYL1):c.51C>T (p.Ile17=)	LOC130006026, SCYL1	Single nucleotide variant (synonymous variant)	SCYL1-related disorder	GLikely benign
Select item 2245144	NM_020680.4(SCYL1):c.74T>C (p.Leu25Pro)	LOC130006026, SCYL1 (L25P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2027634	NM_020680.4(SCYL1):c.112-10C>T	SCYL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3158809	NM_020680.4(SCYL1):c.125C>T (p.Pro42Leu)	SCYL1 (P42L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3341292	NM_020680.4(SCYL1):c.143_144del (p.Val47_Tyr48insTer)	SCYL1	Deletion (nonsense +1 more)	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	GLikely pathogenic
Select item 742804	NM_020680.4(SCYL1):c.150G>C (p.Val50=)	SCYL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 446293	NM_020680.4(SCYL1):c.169C>T (p.Gln57Ter)	SCYL1 (Q57*)	Single nucleotide variant (nonsense)	CALFAN syndrome +1 more	GPathogenic
Select item 2249089	NM_020680.4(SCYL1):c.176A>G (p.Gln59Arg)	SCYL1 (Q59R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251652	NM_020680.4(SCYL1):c.199C>T (p.Arg67Cys)	SCYL1 (R67C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316753	NM_020680.4(SCYL1):c.245G>A (p.Gly82Glu)	SCYL1 (G82E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2965024	NM_020680.4(SCYL1):c.252+16C>T	SCYL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 446292	NM_020680.4(SCYL1):c.256G>T (p.Glu86Ter)	SCYL1 (E86*)	Single nucleotide variant (nonsense)	CALFAN syndrome	GPathogenic
Select item 735368	NM_020680.4(SCYL1):c.273C>T (p.Val91=)	SCYL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641957	NM_020680.4(SCYL1):c.306C>T (p.Tyr102=)	SCYL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3158821	NM_020680.4(SCYL1):c.313G>A (p.Ala105Thr)	SCYL1 (A105T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 446294	NM_020680.4(SCYL1):c.314C>T (p.Ala105Val)	SCYL1 (A105V)	Single nucleotide variant (missense variant)	CALFAN syndrome +1 more	GPathogenic
Select item 743105	NM_020680.4(SCYL1):c.315G>A (p.Ala105=)	SCYL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2121003	NM_020680.4(SCYL1):c.324G>A (p.Glu108=)	SCYL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2596120	NM_020680.4(SCYL1):c.328G>A (p.Gly110Ser)	SCYL1 (G110S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316751	NM_020680.4(SCYL1):c.356G>C (p.Trp119Ser)	SCYL1 (W119S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 727353	NM_020680.4(SCYL1):c.373G>A (p.Val125Met)	SCYL1 (V125M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2185611	NM_020680.4(SCYL1):c.384C>T (p.Leu128=)	SCYL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 422875	NM_020680.4(SCYL1):c.399del (p.Asn133fs)	SCYL1 (N133fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2473162	NM_020680.4(SCYL1):c.400G>C (p.Asp134His)	SCYL1 (D134H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316747	NM_020680.4(SCYL1):c.406A>G (p.Ser136Gly)	SCYL1 (S136G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2165507	NM_020680.4(SCYL1):c.418A>G (p.Asn140Asp)	SCYL1 (N140D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2974839	NM_020680.4(SCYL1):c.444C>T (p.Phe148=)	SCYL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2241211	NM_020680.4(SCYL1):c.448G>A (p.Asp150Asn)	SCYL1 (D150N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272168	NM_020680.4(SCYL1):c.451C>G (p.Arg151Gly)	SCYL1 (R151G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1028665	NM_020680.4(SCYL1):c.451C>T (p.Arg151Ter)	SCYL1 (R151*)	Single nucleotide variant (nonsense)	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	GPathogenic
Select item 722195	NM_020680.4(SCYL1):c.462G>C (p.Glu154Asp)	SCYL1 (E154D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2226575	NM_020680.4(SCYL1):c.490T>C (p.Tyr164His)	SCYL1 (Y164H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787912	NM_020680.4(SCYL1):c.495G>A (p.Ser165=)	SCYL1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 806693	NM_020680.4(SCYL1):c.513G>T (p.Gly171=)	SCYL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 692036	NM_020680.4(SCYL1):c.526A>T (p.Lys176Ter)	SCYL1 (K176*)	Single nucleotide variant (nonsense)	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2405187	NM_020680.4(SCYL1):c.560del (p.Pro187fs)	SCYL1 (P187fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2683153	NM_020680.4(SCYL1):c.560C>T (p.Pro187Leu)	SCYL1 (P187L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902095	NM_020680.4(SCYL1):c.577A>C (p.Ser193Arg)	SCYL1 (S193R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712453	NM_020680.4(SCYL1):c.584G>A (p.Arg195Lys)	SCYL1 (R195K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2037468	NM_020680.4(SCYL1):c.600G>A (p.Lys200=)	SCYL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2171423	NM_020680.4(SCYL1):c.634A>C (p.Ile212Leu)	SCYL1 (I212L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2547067	NM_020680.4(SCYL1):c.635T>G (p.Ile212Ser)	SCYL1 (I212S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2631387	NM_020680.4(SCYL1):c.674C>A (p.Ala225Asp)	SCYL1 (A225D)	Single nucleotide variant (missense variant)	SCYL1-related disorder	GUncertain significance
Select item 2547068	NM_020680.4(SCYL1):c.679C>G (p.Arg227Gly)	SCYL1 (R227G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2985434	NM_020680.4(SCYL1):c.684C>T (p.Asn228=)	SCYL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965197	NM_020680.4(SCYL1):c.694-15A>G	SCYL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 734059	NM_020680.4(SCYL1):c.695T>C (p.Ile232Thr)	SCYL1 (I232T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3369649	NM_020680.4(SCYL1):c.737C>G (p.Ala246Gly)	SCYL1 (A103G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2591206	NM_020680.4(SCYL1):c.785G>A (p.Arg262Gln)	SCYL1 (R262Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1033946	NM_020680.4(SCYL1):c.804G>A (p.Met268Ile)	SCYL1 (M268I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1307156	NM_020680.4(SCYL1):c.812G>A (p.Arg271His)	SCYL1 (R271H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3158824	NM_020680.4(SCYL1):c.827A>G (p.Asn276Ser)	SCYL1 (N276S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2121004	NM_020680.4(SCYL1):c.849+10C>A	SCYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2993086	NM_020680.4(SCYL1):c.849+12A>G	SCYL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1939679	NM_020680.4(SCYL1):c.849+14C>T	SCYL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990317	NM_020680.4(SCYL1):c.850-17C>T	SCYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2568690	NM_020680.4(SCYL1):c.865G>A (p.Glu289Lys)	SCYL1 (E289K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 789625	NM_020680.4(SCYL1):c.877T>G (p.Phe293Val)	SCYL1 (F293V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2326836	NM_020680.4(SCYL1):c.879C>A (p.Phe293Leu)	SCYL1 (F293L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 749700	NM_020680.4(SCYL1):c.891G>A (p.Leu297=)	SCYL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2380350	NM_020680.4(SCYL1):c.895A>G (p.Lys299Glu)	SCYL1 (K299E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390756	NM_020680.4(SCYL1):c.897G>C (p.Lys299Asn)	SCYL1 (K299N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1049140	NM_020680.4(SCYL1):c.928C>T (p.Arg310Trp)	SCYL1 (R310W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 218907	NM_020680.4(SCYL1):c.937del (p.Val313fs)	SCYL1 (V313fs)	Deletion (frameshift variant)	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	GPathogenic
Select item 2381089	NM_020680.4(SCYL1):c.958G>A (p.Ala320Thr)	SCYL1 (A320T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375046	NM_020680.4(SCYL1):c.985G>A (p.Val329Ile)	SCYL1 (V329I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 737527	NM_020680.4(SCYL1):c.990C>T (p.Val330=)	SCYL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 794451	NM_020680.4(SCYL1):c.996G>A (p.Thr332=)	SCYL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2391846	NM_020680.4(SCYL1):c.1027G>A (p.Ala343Thr)	SCYL1 (A343T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985074	NM_020680.4(SCYL1):c.1039C>T (p.Gln347Ter)	SCYL1 (Q347*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2754097	NM_020680.4(SCYL1):c.1043AGA[1] (p.Lys349del)	SCYL1 (K349del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2480786	NM_020680.4(SCYL1):c.1088G>A (p.Arg363Gln)	SCYL1 (R363Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475327	NM_020680.4(SCYL1):c.1096C>T (p.Arg366Cys)	SCYL1 (R366C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1050770	NM_020680.4(SCYL1):c.1097G>A (p.Arg366His)	SCYL1 (R366H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 721572	NM_020680.4(SCYL1):c.1098C>T (p.Arg366=)	SCYL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3369650	NM_020680.4(SCYL1):c.1102C>T (p.Arg368Cys)	SCYL1 (R164C +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 721758	NM_020680.4(SCYL1):c.1103G>A (p.Arg368His)	SCYL1 (R368H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 798888	NM_020680.4(SCYL1):c.1107C>G (p.Leu369=)	SCYL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721009	NM_020680.4(SCYL1):c.1110G>A (p.Leu370=)	SCYL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2819156	NM_020680.4(SCYL1):c.1117-1G>A	SCYL1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3316748	NM_020680.4(SCYL1):c.1138C>T (p.Leu380Phe)	SCYL1 (L380F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255054	NM_020680.4(SCYL1):c.1180del (p.Val394fs)	SCYL1 (V394fs)	Deletion (frameshift variant)	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	GPathogenic
Select item 2548512	NM_020680.4(SCYL1):c.1214G>A (p.Arg405Gln)	SCYL1 (R405Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371978	NM_020680.4(SCYL1):c.1223C>T (p.Thr408Met)	SCYL1 (T408M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1935881	NM_020680.4(SCYL1):c.1224G>A (p.Thr408=)	SCYL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 218909	NM_020680.4(SCYL1):c.1230+1G>A	SCYL1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3158810	NM_020680.4(SCYL1):c.1274A>G (p.Asn425Ser)	SCYL1 (N425S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158811	NM_020680.4(SCYL1):c.1300C>T (p.Arg434Trp)	SCYL1 (R434W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 792890	NM_020680.4(SCYL1):c.1317T>C (p.Asp439=)	SCYL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 985715	NM_020680.4(SCYL1):c.1346_1347del (p.Thr449fs)	SCYL1 (T449fs)	Microsatellite (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2230777	NM_020680.4(SCYL1):c.1346C>T (p.Thr449Ile)	SCYL1 (T449I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378575	NM_020680.4(SCYL1):c.1386C>T (p.Ser462=)	SCYL1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GUncertain significance
Select item 2444060	NM_020680.4(SCYL1):c.1386+1G>A	SCYL1	Single nucleotide variant (splice donor variant)	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	GPathogenic
Select item 974821	NM_020680.4(SCYL1):c.1386+1G>T	SCYL1	Single nucleotide variant (splice donor variant)	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	GPathogenic/Likely pathogenic
Select item 2960891	NM_020680.4(SCYL1):c.1387-7A>G	SCYL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2758953	NM_020680.4(SCYL1):c.1387-7A>C	SCYL1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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