SLFN13[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 106

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147860	GRCh38/hg38 17q12(chr17:35129859-35767049)x3	AP2B1, C17orf50 +46 more	Copy number gain	See cases	GUncertain significance
Select item 157380	NM_144682.5(SLFN13):c.2109_*83579del	LOC105371933, LOC126862540 +11 more	Deletion	Large for gestational age +2 more	Gnot provided
Select item 2477217	NM_144682.6(SLFN13):c.2669A>G (p.Lys890Arg)	SLFN13 (K890R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165958	NM_144682.6(SLFN13):c.2639A>G (p.Asn880Ser)	SLFN13 (N880S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526690	NM_144682.6(SLFN13):c.2630T>A (p.Ile877Asn)	SLFN13 (I877N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320446	NM_144682.6(SLFN13):c.2620G>A (p.Asp874Asn)	SLFN13 (D874N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778128	NM_144682.6(SLFN13):c.2616A>G (p.Thr872=)	SLFN13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3320441	NM_144682.6(SLFN13):c.2612G>C (p.Arg871Thr)	SLFN13 (R871T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320445	NM_144682.6(SLFN13):c.2567G>T (p.Arg856Leu)	SLFN13 (R856L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245211	NM_144682.6(SLFN13):c.2563C>T (p.Arg855Trp)	SLFN13 (R855W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324693	NM_144682.6(SLFN13):c.2559T>A (p.Ser853Arg)	SLFN13 (S853R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620738	NM_144682.6(SLFN13):c.2557A>G (p.Ser853Gly)	SLFN13 (S853G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165957	NM_144682.6(SLFN13):c.2553G>C (p.Leu851Phe)	SLFN13 (L851F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477543	NM_144682.6(SLFN13):c.2531T>C (p.Met844Thr)	SLFN13 (M844T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165956	NM_144682.6(SLFN13):c.2516G>A (p.Ser839Asn)	SLFN13 (S839N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320439	NM_144682.6(SLFN13):c.2501T>G (p.Met834Arg)	SLFN13 (M834R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3165955	NM_144682.6(SLFN13):c.2476C>T (p.Leu826Phe)	SLFN13 (L826F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371864	NM_144682.6(SLFN13):c.2450C>T (p.Thr817Ile)	SLFN13 (T817I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249515	NM_144682.6(SLFN13):c.2444C>A (p.Thr815Asn)	SLFN13 (T815N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490020	NM_144682.6(SLFN13):c.2437G>A (p.Val813Ile)	SLFN13 (V813I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383728	NM_144682.6(SLFN13):c.2411A>G (p.Tyr804Cys)	SLFN13 (Y804C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165954	NM_144682.6(SLFN13):c.2391G>C (p.Arg797Ser)	SLFN13 (R797S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349195	NM_144682.6(SLFN13):c.2365G>A (p.Val789Met)	SLFN13 (V789M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321296	NM_144682.6(SLFN13):c.2317G>A (p.Val773Ile)	SLFN13 (V773I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249973	NM_144682.6(SLFN13):c.2270C>A (p.Pro757His)	SLFN13 (P757H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523021	NM_144682.6(SLFN13):c.2203G>A (p.Asp735Asn)	SLFN13 (D735N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165953	NM_144682.6(SLFN13):c.2195G>A (p.Arg732His)	SLFN13 (R732H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320450	NM_144682.6(SLFN13):c.2189T>C (p.Val730Ala)	SLFN13 (V730A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410489	NM_144682.6(SLFN13):c.2150C>T (p.Pro717Leu)	SLFN13 (P717L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3165952	NM_144682.6(SLFN13):c.2044A>G (p.Arg682Gly)	SLFN13 (R682G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 770265	NM_144682.6(SLFN13):c.1974A>C (p.Lys658Asn)	SLFN13 (K658N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2487313	NM_144682.6(SLFN13):c.1961T>G (p.Phe654Cys)	SLFN13 (F654C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398011	NM_144682.6(SLFN13):c.1951C>T (p.Arg651Trp)	SLFN13 (R651W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320444	NM_144682.6(SLFN13):c.1928G>A (p.Arg643Lys)	SLFN13 (R643K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3320449	NM_144682.6(SLFN13):c.1919T>C (p.Ile640Thr)	SLFN13 (I640T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410653	NM_144682.6(SLFN13):c.1888G>A (p.Val630Ile)	SLFN13 (V630I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2465401	NM_144682.6(SLFN13):c.1886A>G (p.Tyr629Cys)	SLFN13 (Y629C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295253	NM_144682.6(SLFN13):c.1861C>A (p.His621Asn)	SLFN13 (H621N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369727	NM_144682.6(SLFN13):c.1808C>T (p.Ser603Leu)	SLFN13 (S603L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538076	NM_144682.6(SLFN13):c.1768C>T (p.Arg590Cys)	SLFN13 (R590C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318294	NM_144682.6(SLFN13):c.1678G>T (p.Gly560Cys)	SLFN13 (G560C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647667	NM_144682.6(SLFN13):c.1677C>T (p.Leu559=)	SLFN13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2399526	NM_144682.6(SLFN13):c.1663G>A (p.Val555Met)	SLFN13 (V555M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457997	NM_144682.6(SLFN13):c.1612T>C (p.Ser538Pro)	SLFN13 (S538P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359538	NM_144682.6(SLFN13):c.1595C>T (p.Pro532Leu)	SLFN13 (P532L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238196	NM_144682.6(SLFN13):c.1517G>C (p.Gly506Ala)	SLFN13 (G506A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647668	NM_144682.6(SLFN13):c.1494A>G (p.Leu498=)	SLFN13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621760	NM_144682.6(SLFN13):c.1481T>C (p.Leu494Ser)	SLFN13 (L494S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345366	NM_144682.6(SLFN13):c.1457A>G (p.Tyr486Cys)	SLFN13 (Y486C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165950	NM_144682.6(SLFN13):c.1426C>T (p.Leu476Phe)	SLFN13 (L476F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165949	NM_144682.6(SLFN13):c.1321C>T (p.Leu441Phe)	SLFN13 (L441F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3165948	NM_144682.6(SLFN13):c.1319T>A (p.Ile440Asn)	SLFN13 (I440N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244927	NM_144682.6(SLFN13):c.1304C>T (p.Ser435Phe)	SLFN13 (S435F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320442	NM_144682.6(SLFN13):c.1267C>G (p.Leu423Val)	SLFN13 (L423V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233621	NM_144682.6(SLFN13):c.1234C>T (p.Leu412Phe)	SLFN13 (L412F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517052	NM_144682.6(SLFN13):c.1211A>G (p.His404Arg)	SLFN13 (H404R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165947	NM_144682.6(SLFN13):c.1166A>T (p.His389Leu)	SLFN13 (H389L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592502	NM_144682.6(SLFN13):c.1121G>A (p.Ser374Asn)	SLFN13 (S374N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320447	NM_144682.6(SLFN13):c.1076C>T (p.Pro359Leu)	SLFN13 (P359L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514501	NM_144682.6(SLFN13):c.1057G>A (p.Ala353Thr)	SLFN13 (A353T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2400491	NM_144682.6(SLFN13):c.1057G>T (p.Ala353Ser)	SLFN13 (A353S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244926	NM_144682.6(SLFN13):c.1055A>G (p.Asp352Gly)	SLFN13 (D352G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320440	NM_144682.6(SLFN13):c.997G>A (p.Val333Met)	SLFN13 (V333M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529213	NM_144682.6(SLFN13):c.974C>T (p.Ser325Leu)	SLFN13 (S325L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165964	NM_144682.6(SLFN13):c.959G>A (p.Cys320Tyr)	SLFN13 (C320Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165963	NM_144682.6(SLFN13):c.923A>G (p.Tyr308Cys)	SLFN13 (Y308C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165962	NM_144682.6(SLFN13):c.872G>C (p.Arg291Pro)	SLFN13 (R291P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3165961	NM_144682.6(SLFN13):c.799G>A (p.Asp267Asn)	SLFN13 (D267N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3165960	NM_144682.6(SLFN13):c.757A>T (p.Ser253Cys)	SLFN13 (S253C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206684	NM_144682.6(SLFN13):c.724G>A (p.Gly242Arg)	SLFN13 (G242R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617886	NM_144682.6(SLFN13):c.719C>G (p.Thr240Ser)	SLFN13 (T240S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1178111	NM_144682.6(SLFN13):c.704C>T (p.Ser235Phe)	SLFN13 (S235F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2401297	NM_144682.6(SLFN13):c.672A>C (p.Gln224His)	SLFN13 (Q224H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391835	NM_144682.6(SLFN13):c.641T>A (p.Phe214Tyr)	SLFN13 (F214Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491292	NM_144682.6(SLFN13):c.599A>G (p.Tyr200Cys)	SLFN13 (Y200C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329970	NM_144682.6(SLFN13):c.592A>C (p.Ile198Leu)	SLFN13 (I198L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2376829	NM_144682.6(SLFN13):c.556T>A (p.Ser186Thr)	SLFN13 (S186T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338668	NM_144682.6(SLFN13):c.550T>C (p.Ser184Pro)	SLFN13 (S184P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383511	NM_144682.6(SLFN13):c.532G>A (p.Ala178Thr)	SLFN13 (A178T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219686	NM_144682.6(SLFN13):c.467C>T (p.Thr156Ile)	SLFN13 (T156I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647669	NM_144682.6(SLFN13):c.454G>A (p.Asp152Asn)	SLFN13 (D152N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2386342	NM_144682.6(SLFN13):c.404A>G (p.Tyr135Cys)	SLFN13 (Y135C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165959	NM_144682.6(SLFN13):c.343G>A (p.Asp115Asn)	SLFN13 (D115N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352325	NM_144682.6(SLFN13):c.341G>A (p.Gly114Asp)	SLFN13 (G114D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212989	NM_144682.6(SLFN13):c.268C>G (p.Pro90Ala)	SLFN13 (P90A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165951	NM_144682.6(SLFN13):c.179T>A (p.Val60Glu)	SLFN13 (V60E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375555	NM_144682.6(SLFN13):c.149C>T (p.Ala50Val)	SLFN13 (A50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485882	NM_144682.6(SLFN13):c.143G>C (p.Arg48Pro)	SLFN13 (R48P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254792	NM_144682.6(SLFN13):c.65G>T (p.Gly22Val)	SLFN13 (G22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524523	NM_144682.6(SLFN13):c.64G>A (p.Gly22Arg)	SLFN13 (G22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320448	NM_144682.6(SLFN13):c.50T>C (p.Leu17Pro)	SLFN13 (L17P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243102	NC_000017.10:g.(?_33445500)_(34079869_?)del	AP2B1, FNDC8 +13 more	Deletion	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3063495	GRCh37/hg19 17q12(chr17:33316754-33890206)x1	FNDC8, LIG3 +11 more	Copy number loss	not specified	GUncertain significance
Select item 2684845	GRCh37/hg19 17q12(chr17:33769812-33983362)x3	AP2B1, PEX12 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684844	GRCh37/hg19 17q12(chr17:33758250-34082140)x3	AP2B1, GAS2L2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 2422813	NC_000017.10:g.(?_33475283)_(34079869_?)dup	AP2B1, GAS2L2 +10 more	Duplication	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 1707622	GRCh37/hg19 17q12(chr17:33766040-34001896)x3	SLFN12, SLFN12L +4 more	Copy number gain	Isolated anorectal malformation	GUncertain significance
Select item 815928	GRCh37/hg19 17q12(chr17:33073917-33863479)x1	CCT6B, FNDC8 +12 more	Copy number loss	not provided	GUncertain significance

<< First< Prev

Page of 2