ClinVar for Gene (Select 84250) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320415	NM_032290.4(SLF1):c.2696G>A (p.Gly899Asp)	SLF1 (G899D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320414	NM_032290.4(SLF1):c.218T>C (p.Ile73Thr)	SLF1 (I73T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320413	NM_032290.4(SLF1):c.335G>C (p.Arg112Pro)	SLF1 (R112P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320411	NM_032290.4(SLF1):c.693T>G (p.Phe231Leu)	SLF1 (F231L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320410	NM_032290.4(SLF1):c.2795T>C (p.Ile932Thr)	SLF1 (I932T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320409	NM_032290.4(SLF1):c.778A>G (p.Ile260Val)	SLF1 (I260V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3165892	NM_032290.4(SLF1):c.429A>G (p.Ile143Met)	SLF1 (I143M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165891	NM_032290.4(SLF1):c.2801A>T (p.Asp934Val)	SLF1 (D934V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165890	NM_032290.4(SLF1):c.2528C>T (p.Thr843Met)	SLF1 (T843M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165889	NM_032290.4(SLF1):c.2125T>C (p.Tyr709His)	SLF1 (Y709H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165888	NM_032290.4(SLF1):c.2008T>C (p.Cys670Arg)	SLF1 (C670R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165887	NM_032290.4(SLF1):c.1942G>A (p.Asp648Asn)	SLF1 (D648N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165886	NM_032290.4(SLF1):c.1915A>G (p.Arg639Gly)	SLF1 (R639G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165885	NM_032290.4(SLF1):c.1523T>G (p.Val508Gly)	SLF1 (V508G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165884	NM_032290.4(SLF1):c.1223A>T (p.Glu408Val)	SLF1 (E408V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165883	NM_032290.4(SLF1):c.108G>C (p.Lys36Asn)	SLF1 (K36N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148929	GRCh37/hg19 5q14.3-21.2(chr5:89923199-104256041)x3	ADGRV1, ARB2A +34 more	Copy number gain	See cases	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 3062838	GRCh37/hg19 5q14.3-15(chr5:91884840-93976422)x1	ARB2A, KIAA0825 +3 more	Copy number loss	not specified	GPathogenic
Select item 2685163	GRCh37/hg19 5q15(chr5:93750745-94125373)x1	KIAA0825, MCTP1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2655592	NM_032290.4(SLF1):c.2376C>T (p.Pro792=)	SLF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655591	NM_032290.4(SLF1):c.737A>G (p.Gln246Arg)	SLF1 (Q246R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2624005	NM_032290.4(SLF1):c.2699C>G (p.Pro900Arg)	SLF1 (P900R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616021	NM_032290.4(SLF1):c.822T>G (p.Ser274Arg)	SLF1 (S274R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608447	NM_032290.4(SLF1):c.1482G>T (p.Gln494His)	SLF1 (Q494H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606332	NM_032290.4(SLF1):c.1040T>C (p.Met347Thr)	SLF1 (M347T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599191	NM_032290.4(SLF1):c.1300T>A (p.Ser434Thr)	SLF1 (S434T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587957	NM_032290.4(SLF1):c.955G>C (p.Glu319Gln)	SLF1 (E319Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551283	NM_032290.4(SLF1):c.232A>G (p.Lys78Glu)	SLF1 (K78E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544909	NM_032290.4(SLF1):c.845T>G (p.Met282Arg)	SLF1 (M282R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540684	NM_032290.4(SLF1):c.1134G>C (p.Arg378Ser)	SLF1 (R378S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538541	NM_032290.4(SLF1):c.1765C>G (p.Pro589Ala)	SLF1 (P589A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537134	NM_032290.4(SLF1):c.2005A>G (p.Ile669Val)	SLF1 (I669V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490019	NM_032290.4(SLF1):c.1580T>G (p.Ile527Ser)	SLF1 (I527S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478800	NM_032290.4(SLF1):c.854C>A (p.Thr285Asn)	SLF1 (T285N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468809	NM_032290.4(SLF1):c.11G>A (p.Gly4Asp)	SLF1 (G4D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411644	NM_032290.4(SLF1):c.1360G>A (p.Val454Ile)	SLF1 (V454I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2410008	NM_032290.4(SLF1):c.1201A>G (p.Asn401Asp)	SLF1 (N401D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409368	NM_032290.4(SLF1):c.2362A>G (p.Lys788Glu)	SLF1 (K788E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400352	NM_032290.4(SLF1):c.1105G>A (p.Asp369Asn)	SLF1 (D369N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400281	NM_032290.4(SLF1):c.629A>G (p.Asn210Ser)	SLF1 (N210S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2398074	NM_032290.4(SLF1):c.2294A>G (p.Asn765Ser)	SLF1 (N765S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394153	NM_032290.4(SLF1):c.2973G>A (p.Met991Ile)	SLF1 (M991I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391224	NM_032290.4(SLF1):c.3148A>G (p.Met1050Val)	SLF1 (M1050V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389626	NM_032290.4(SLF1):c.2853A>C (p.Gln951His)	SLF1 (Q951H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387354	NM_032290.4(SLF1):c.1775T>G (p.Met592Arg)	SLF1 (M592R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386733	NM_032290.4(SLF1):c.349C>T (p.Arg117Cys)	SLF1 (R117C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375163	NM_032290.4(SLF1):c.1804A>C (p.Lys602Gln)	SLF1 (K602Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367038	NM_032290.4(SLF1):c.2862T>G (p.Phe954Leu)	SLF1 (F954L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358136	NM_032290.4(SLF1):c.2932T>G (p.Leu978Val)	SLF1 (L978V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354285	NM_032290.4(SLF1):c.1093A>C (p.Lys365Gln)	SLF1 (K365Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352048	NM_032290.4(SLF1):c.3106C>G (p.Pro1036Ala)	SLF1 (P1036A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343006	NM_032290.4(SLF1):c.1084A>G (p.Met362Val)	SLF1 (M362V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341214	NM_032290.4(SLF1):c.1615T>G (p.Phe539Val)	SLF1 (F539V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327988	NM_032290.4(SLF1):c.2669T>C (p.Ile890Thr)	SLF1 (I890T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327389	NM_032290.4(SLF1):c.2459T>C (p.Val820Ala)	SLF1 (V820A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326837	NM_032290.4(SLF1):c.1177A>G (p.Arg393Gly)	SLF1 (R393G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326110	NM_032290.4(SLF1):c.1603A>C (p.Thr535Pro)	SLF1 (T535P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323395	NM_032290.4(SLF1):c.1673G>T (p.Trp558Leu)	SLF1 (W558L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322524	NM_032290.4(SLF1):c.902A>G (p.Asp301Gly)	SLF1 (D301G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318226	NM_032290.4(SLF1):c.457G>C (p.Val153Leu)	SLF1 (V153L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317565	NM_032290.4(SLF1):c.1835A>T (p.Lys612Ile)	SLF1 (K612I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303663	NM_032290.4(SLF1):c.805A>G (p.Lys269Glu)	SLF1 (K269E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281998	NM_032290.4(SLF1):c.438G>T (p.Leu146Phe)	SLF1 (L146F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277055	NM_032290.4(SLF1):c.1468T>G (p.Leu490Val)	SLF1 (L490V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273207	NM_032290.4(SLF1):c.2232A>C (p.Leu744Phe)	SLF1 (L744F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245579	NM_032290.4(SLF1):c.872A>G (p.Tyr291Cys)	SLF1 (Y291C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244925	NM_032290.4(SLF1):c.503C>T (p.Ala168Val)	SLF1 (A168V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244924	NM_032290.4(SLF1):c.502G>T (p.Ala168Ser)	SLF1 (A168S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242691	NM_032290.4(SLF1):c.2092T>G (p.Ser698Ala)	SLF1 (S698A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235515	NM_032290.4(SLF1):c.1554C>A (p.Ser518Arg)	SLF1 (S518R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229216	NM_032290.4(SLF1):c.437T>C (p.Leu146Ser)	SLF1 (L146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214903	NM_032290.4(SLF1):c.1528A>G (p.Ile510Val)	SLF1 (I510V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211273	NM_032290.4(SLF1):c.185C>T (p.Ala62Val)	SLF1 (A62V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808134	GRCh37/hg19 5q15(chr5:93524163-95017463)x3	ARSK, FAM81B +7 more	Copy number gain	not provided	GUncertain significance
Select item 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
Select item 816490	GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3	CAST, CETN3 +45 more	Copy number gain	See cases	GLikely pathogenic
Select item 814712	GRCh37/hg19 5q15(chr5:93519895-93976422)x1	SLF1, KIAA0825	Copy number loss	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 773880	NM_032290.4(SLF1):c.126T>C (p.Asn42=)	SLF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770721	NM_032290.4(SLF1):c.2146G>C (p.Gly716Arg)	SLF1 (G716R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 725584	NM_032290.4(SLF1):c.2958A>G (p.Leu986=)	SLF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 686679	GRCh37/hg19 5q15(chr5:92386982-94865113)x1	FAM172A, FAM81B +6 more	Copy number loss	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563092	GRCh37/hg19 5q15(chr5:93907388-94842440)x3	SLF1, TTC37 +3 more	Copy number gain	not provided	GUncertain significance
Select item 563091	GRCh37/hg19 5q14.3-21.3(chr5:91504101-104858348)x1	ARB2A, ARSK +31 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +343 more	Copy number loss	See cases	GPathogenic
Select item 152919	GRCh38/hg38 5q15(chr5:93812177-94727962)x1	ARB2A, KIAA0825 +9 more	Copy number loss	See cases	GUncertain significance
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 147982	GRCh38/hg38 5q15(chr5:94454031-94626426)x1	KIAA0825, LOC126807453 +3 more	Copy number loss	See cases	GUncertain significance
Select item 146352	GRCh38/hg38 5q15(chr5:94169644-95221372)x3	KIAA0825, LOC126807453 +11 more	Copy number gain	See cases	GUncertain significance
Select item 59667	GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1	ARB2A, ARRDC3-AS1 +147 more	Copy number loss	See cases	GPathogenic

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