ClinVar for Gene (Select 57410) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316754	NM_020680.4(SCYL1):c.2000G>T (p.Ser667Ile)	SCYL1 (S667I +2 more)	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 3316752	NM_020680.4(SCYL1):c.1442C>T (p.Ala481Val)	SCYL1 (A481V)	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 3316750	NM_020680.4(SCYL1):c.1675A>C (p.Ser559Arg)	SCYL1 (S559R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316749	NM_020680.4(SCYL1):c.2107G>C (p.Glu703Gln)	SCYL1 (E702Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3316747	NM_020680.4(SCYL1):c.406A>G (p.Ser136Gly)	SCYL1 (S136G)	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 3158824	NM_020680.4(SCYL1):c.827A>G (p.Asn276Ser)	SCYL1 (N276S)	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 3158821	NM_020680.4(SCYL1):c.313G>A (p.Ala105Thr)	SCYL1 (A105T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3158819	NM_020680.4(SCYL1):c.2198G>A (p.Ser733Asn)	SCYL1 (S716N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158818	NM_020680.4(SCYL1):c.2054C>T (p.Ser685Phe)	SCYL1 (S668F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158817	NM_020680.4(SCYL1):c.1966G>A (p.Ala656Thr)	SCYL1 (A639T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158816	NM_020680.4(SCYL1):c.1939G>A (p.Glu647Lys)	SCYL1 (E630K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158815	NM_020680.4(SCYL1):c.1878G>C (p.Glu626Asp)	SCYL1 (E609D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158813	NM_020680.4(SCYL1):c.1757G>A (p.Arg586His)	SCYL1 (R586H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158812	NM_020680.4(SCYL1):c.1684A>G (p.Met562Val)	SCYL1 (M562V)	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 3158810	NM_020680.4(SCYL1):c.1274A>G (p.Asn425Ser)	SCYL1 (N425S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3039970	NM_020680.4(SCYL1):c.1761G>A (p.Ser587=)	SCYL1	Single nucleotide variant (synonymous variant)	SCYL1-related disorder	GLikely benign
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 3036668	NM_020680.4(SCYL1):c.2264G>C (p.Trp755Ser)	SCYL1 (W738S +1 more)	Single nucleotide variant (missense variant +1 more)	SCYL1-related disorder	GLikely benign
Select item 3029469	NM_020680.4(SCYL1):c.1576-7C>T	SCYL1	Single nucleotide variant (intron variant)	SCYL1-related disorder	GLikely benign
Select item 2999657	NM_020680.4(SCYL1):c.2151C>T (p.Asp717=)	SCYL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993086	NM_020680.4(SCYL1):c.849+12A>G	SCYL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985434	NM_020680.4(SCYL1):c.684C>T (p.Asn228=)	SCYL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974839	NM_020680.4(SCYL1):c.444C>T (p.Phe148=)	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 2965024	NM_020680.4(SCYL1):c.252+16C>T	SCYL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960891	NM_020680.4(SCYL1):c.1387-7A>G	SCYL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959690	NM_020680.4(SCYL1):c.1623G>A (p.Ser541=)	SCYL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918799	NM_020680.4(SCYL1):c.1935C>T (p.Asp645=)	SCYL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2884448	NM_020680.4(SCYL1):c.2217C>T (p.Phe739=)	SCYL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856345	NM_020680.4(SCYL1):c.2259C>T (p.Asp753=)	SCYL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2819156	NM_020680.4(SCYL1):c.1117-1G>A	SCYL1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2758953	NM_020680.4(SCYL1):c.1387-7A>C	SCYL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2754097	NM_020680.4(SCYL1):c.1043AGA[1] (p.Lys349del)	SCYL1 (K349del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2716711	NM_020680.4(SCYL1):c.2271G>A (p.Glu757=)	SCYL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2712453	NM_020680.4(SCYL1):c.584G>A (p.Arg195Lys)	SCYL1 (R195K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	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 2672471	NM_020680.4(SCYL1):c.2302+14C>T	SCYL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2641958	NM_020680.4(SCYL1):c.1809G>A (p.Thr603=)	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 2631387	NM_020680.4(SCYL1):c.674C>A (p.Ala225Asp)	SCYL1 (A225D)	Single nucleotide variant (missense variant)	SCYL1-related disorder	GUncertain significance
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 2591206	NM_020680.4(SCYL1):c.785G>A (p.Arg262Gln)	SCYL1 (R262Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2548512	NM_020680.4(SCYL1):c.1214G>A (p.Arg405Gln)	SCYL1 (R405Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2547067	NM_020680.4(SCYL1):c.635T>G (p.Ile212Ser)	SCYL1 (I212S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509696	NM_020680.4(SCYL1):c.2408G>C (p.Gly803Ala)	SCYL1 (G803A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2473162	NM_020680.4(SCYL1):c.400G>C (p.Asp134His)	SCYL1 (D134H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466957	NM_020680.4(SCYL1):c.1999A>G (p.Ser667Gly)	SCYL1 (S650G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465528	NM_020680.4(SCYL1):c.2350C>T (p.Arg784Trp)	SCYL1 (R767W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2444353	NM_020680.4(SCYL1):c.1591_1610del (p.Arg531fs)	SCYL1 (R531fs)	Deletion (frameshift variant)	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	GLikely pathogenic
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 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	FADD-related immunodeficiency +1 more	GUncertain significance
Select item 2423785	NC_000011.9:g.(?_65303404)_(65311040_?)dup	LTBP3, SCYL1	Duplication	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2410320	NM_020680.4(SCYL1):c.1544C>T (p.Thr515Ile)	SCYL1 (T515I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405187	NM_020680.4(SCYL1):c.560del (p.Pro187fs)	SCYL1 (P187fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
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 2390756	NM_020680.4(SCYL1):c.897G>C (p.Lys299Asn)	SCYL1 (K299N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2380350	NM_020680.4(SCYL1):c.895A>G (p.Lys299Glu)	SCYL1 (K299E)	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 2375046	NM_020680.4(SCYL1):c.985G>A (p.Val329Ile)	SCYL1 (V329I)	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 2341279	NM_020680.4(SCYL1):c.2200G>A (p.Asp734Asn)	SCYL1 (D734N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2323465	NM_020680.4(SCYL1):c.1501A>C (p.Asn501His)	SCYL1 (N501H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292401	NM_020680.4(SCYL1):c.1436C>T (p.Pro479Leu)	SCYL1 (P479L)	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 2251652	NM_020680.4(SCYL1):c.199C>T (p.Arg67Cys)	SCYL1 (R67C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2241211	NM_020680.4(SCYL1):c.448G>A (p.Asp150Asn)	SCYL1 (D150N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2226575	NM_020680.4(SCYL1):c.490T>C (p.Tyr164His)	SCYL1 (Y164H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221199	NM_020680.4(SCYL1):c.1591C>T (p.Arg531Trp)	SCYL1 (R531W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219274	NM_020680.4(SCYL1):c.1720G>A (p.Val574Met)	SCYL1 (V574M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211769	NM_020680.4(SCYL1):c.2255C>T (p.Pro752Leu)	SCYL1 (P752L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207357	NM_020680.4(SCYL1):c.2309T>A (p.Val770Asp)	SCYL1 (V753D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2185611	NM_020680.4(SCYL1):c.384C>T (p.Leu128=)	SCYL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2181462	NM_020680.4(SCYL1):c.2031+1G>C	SCYL1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 2165507	NM_020680.4(SCYL1):c.418A>G (p.Asn140Asp)	SCYL1 (N140D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2121004	NM_020680.4(SCYL1):c.849+10C>A	SCYL1	Single nucleotide variant (intron 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 2037468	NM_020680.4(SCYL1):c.600G>A (p.Lys200=)	SCYL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2027634	NM_020680.4(SCYL1):c.112-10C>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

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