ClinVar for Gene (Select 91607) - ClinVar

Links from Gene

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320428	NM_001376007.1(SLFN11):c.2168C>T (p.Pro723Leu)	SLFN11 (P723L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320427	NM_001376007.1(SLFN11):c.175G>A (p.Gly59Arg)	SLFN11 (G59R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320426	NM_001376007.1(SLFN11):c.2563C>T (p.Arg855Trp)	SLFN11 (R855W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320425	NM_001376007.1(SLFN11):c.1888G>A (p.Val630Ile)	SLFN11 (V630I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3320424	NM_001376007.1(SLFN11):c.2020C>T (p.Arg674Cys)	SLFN11 (R674C)	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 3165927	NM_001376007.1(SLFN11):c.973T>G (p.Phe325Val)	SLFN11 (F325V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165926	NM_001376007.1(SLFN11):c.938G>C (p.Cys313Ser)	SLFN11 (C313S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165925	NM_001376007.1(SLFN11):c.90C>G (p.Asn30Lys)	SLFN11 (N30K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165924	NM_001376007.1(SLFN11):c.811A>G (p.Arg271Gly)	SLFN11 (R271G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165923	NM_001376007.1(SLFN11):c.806C>G (p.Ser269Cys)	SLFN11 (S269C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165922	NM_001376007.1(SLFN11):c.752A>T (p.Asp251Val)	SLFN11 (D251V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165921	NM_001376007.1(SLFN11):c.43C>T (p.Pro15Ser)	SLFN11 (P15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165920	NM_001376007.1(SLFN11):c.370C>T (p.Arg124Cys)	SLFN11 (R124C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165919	NM_001376007.1(SLFN11):c.2450A>C (p.Lys817Thr)	SLFN11 (K817T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165918	NM_001376007.1(SLFN11):c.2392C>T (p.Arg798Cys)	SLFN11 (R798C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165916	NM_001376007.1(SLFN11):c.2365A>G (p.Met789Val)	SLFN11 (M789V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3165915	NM_001376007.1(SLFN11):c.1999A>C (p.Ile667Leu)	SLFN11 (I667L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165914	NM_001376007.1(SLFN11):c.1982A>T (p.His661Leu)	SLFN11 (H661L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165913	NM_001376007.1(SLFN11):c.1954A>G (p.Lys652Glu)	SLFN11 (K652E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165912	NM_001376007.1(SLFN11):c.1821C>G (p.Ile607Met)	SLFN11 (I607M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165911	NM_001376007.1(SLFN11):c.1033G>A (p.Glu345Lys)	SLFN11 (E345K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063495	GRCh37/hg19 17q12(chr17:33316754-33890206)x1	FNDC8, LIG3 +11 more	Copy number loss	not specified	GUncertain significance
Select item 2603215	NM_001376007.1(SLFN11):c.211G>A (p.Val71Met)	SLFN11 (V71M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595168	NM_001376007.1(SLFN11):c.1297C>T (p.Pro433Ser)	SLFN11 (P433S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593614	NM_001376007.1(SLFN11):c.1315T>G (p.Leu439Val)	SLFN11 (L439V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2591281	NM_001376007.1(SLFN11):c.1166A>G (p.His389Arg)	SLFN11 (H389R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590413	NM_001376007.1(SLFN11):c.2393G>A (p.Arg798His)	SLFN11 (R798H)	Single nucleotide variant (missense variant)	not specified	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 2569911	NM_001376007.1(SLFN11):c.401G>A (p.Arg134His)	SLFN11 (R134H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561098	NM_001376007.1(SLFN11):c.1951C>T (p.Arg651Trp)	SLFN11 (R651W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553157	NM_001376007.1(SLFN11):c.1684A>G (p.Arg562Gly)	SLFN11 (R562G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553112	NM_001376007.1(SLFN11):c.2021G>A (p.Arg674His)	SLFN11 (R674H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545325	NM_001376007.1(SLFN11):c.1967G>A (p.Arg656Lys)	SLFN11 (R656K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2538077	NM_001376007.1(SLFN11):c.1564A>G (p.Ser522Gly)	SLFN11 (S522G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538008	NM_001376007.1(SLFN11):c.1196C>T (p.Ser399Leu)	SLFN11 (S399L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536844	NM_001376007.1(SLFN11):c.356G>A (p.Arg119His)	SLFN11 (R119H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525806	NM_001376007.1(SLFN11):c.1787T>G (p.Phe596Cys)	SLFN11 (F596C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521323	NM_001376007.1(SLFN11):c.1927A>G (p.Arg643Gly)	SLFN11 (R643G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509825	NM_001376007.1(SLFN11):c.2693G>C (p.Trp898Ser)	SLFN11 (W898S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490204	NM_001376007.1(SLFN11):c.1325C>T (p.Ser442Phe)	SLFN11 (S442F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468408	NM_001376007.1(SLFN11):c.659C>T (p.Thr220Ile)	SLFN11 (T220I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461443	NM_001376007.1(SLFN11):c.1321T>C (p.Phe441Leu)	SLFN11 (F441L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2422813	NC_000017.10:g.(?_33475283)_(34079869_?)dup	AP2B1, GAS2L2 +10 more	Duplication	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2401480	NM_001376007.1(SLFN11):c.2080G>T (p.Gly694Cys)	SLFN11 (G694C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2401479	NM_001376007.1(SLFN11):c.2078G>A (p.Gly693Asp)	SLFN11 (G693D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2400567	NM_001376007.1(SLFN11):c.1006G>A (p.Asp336Asn)	SLFN11 (D336N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392454	NM_001376007.1(SLFN11):c.1336G>A (p.Ala446Thr)	SLFN11 (A446T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382408	NM_001376007.1(SLFN11):c.1612T>C (p.Ser538Pro)	SLFN11 (S538P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381508	NM_001376007.1(SLFN11):c.2673A>C (p.Gln891His)	SLFN11 (Q891H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367526	NM_001376007.1(SLFN11):c.2447C>T (p.Ala816Val)	SLFN11 (A816V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358318	NM_001376007.1(SLFN11):c.422G>A (p.Arg141His)	SLFN11 (R141H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342019	NM_001376007.1(SLFN11):c.881C>A (p.Thr294Asn)	SLFN11 (T294N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340109	NM_001376007.1(SLFN11):c.1318A>G (p.Ile440Val)	SLFN11 (I440V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339791	NM_001376007.1(SLFN11):c.2522C>T (p.Ala841Val)	SLFN11 (A841V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338132	NM_001376007.1(SLFN11):c.298G>A (p.Gly100Arg)	SLFN11 (G100R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338017	NM_001376007.1(SLFN11):c.2218T>A (p.Tyr740Asn)	SLFN11 (Y740N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337400	NM_001376007.1(SLFN11):c.185G>T (p.Arg62Leu)	SLFN11 (R62L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332278	NM_001376007.1(SLFN11):c.2057G>C (p.Ser686Thr)	SLFN11 (S686T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2329511	NM_001376007.1(SLFN11):c.99G>C (p.Lys33Asn)	SLFN11 (K33N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326034	NM_001376007.1(SLFN11):c.286A>T (p.Thr96Ser)	SLFN11 (T96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314629	NM_001376007.1(SLFN11):c.2066G>C (p.Arg689Pro)	SLFN11 (R689P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301354	NM_001376007.1(SLFN11):c.1996G>A (p.Val666Ile)	SLFN11 (V666I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2287881	NM_001376007.1(SLFN11):c.98A>C (p.Lys33Thr)	SLFN11 (K33T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287685	NM_001376007.1(SLFN11):c.401G>T (p.Arg134Leu)	SLFN11 (R134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284327	NM_001376007.1(SLFN11):c.2564G>A (p.Arg855Gln)	SLFN11 (R855Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280641	NM_001376007.1(SLFN11):c.2332C>G (p.Arg778Gly)	SLFN11 (R778G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269575	NM_001376007.1(SLFN11):c.2701C>T (p.His901Tyr)	SLFN11 (H901Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268650	NM_001376007.1(SLFN11):c.338G>A (p.Gly113Asp)	SLFN11 (G113D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2257717	NM_001376007.1(SLFN11):c.1046G>A (p.Gly349Asp)	SLFN11 (G349D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245197	NM_001376007.1(SLFN11):c.371G>A (p.Arg124His)	SLFN11 (R124H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244990	NM_001376007.1(SLFN11):c.2333G>A (p.Arg778Gln)	SLFN11 (R778Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2217311	NM_001376007.1(SLFN11):c.2353G>T (p.Val785Leu)	SLFN11 (V785L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2211783	NM_001376007.1(SLFN11):c.1636C>T (p.His546Tyr)	SLFN11 (H546Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211782	NM_001376007.1(SLFN11):c.1635G>T (p.Gln545His)	SLFN11 (Q545H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 982226	NM_001376007.1(SLFN11):c.2603T>C (p.Ile868Thr)	SLFN11 (I868T)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 815928	GRCh37/hg19 17q12(chr17:33073917-33863479)x1	CCT6B, FNDC8 +12 more	Copy number loss	not provided	GUncertain significance
Select item 786840	NM_001376007.1(SLFN11):c.1769G>A (p.Arg590His)	SLFN11 (R590H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771025	NM_001376007.1(SLFN11):c.1494A>G (p.Leu498=)	SLFN11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768870	NM_001376007.1(SLFN11):c.1437A>G (p.Gln479=)	SLFN11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717408	NM_001376007.1(SLFN11):c.2446G>A (p.Ala816Thr)	SLFN11 (A816T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 564429	GRCh37/hg19 17q12(chr17:32351496-34455576)x1	AP2B1, ASIC2 +40 more	Copy number loss	not provided	GUncertain significance
Select item 442885	GRCh37/hg19 17q12(chr17:33498726-33863479)x1	SLC35G3, SLFN11 +5 more	Copy number loss	See cases	GLikely benign
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395312	GRCh37/hg19 17q12(chr17:33687356-33767930)x1	SLFN12, SLFN13 +1 more	Copy number loss	See cases	GBenign/Likely benign
Select item 160916	GRCh38/hg38 17q12(chr17:35360337-35411448)x1	LOC105371933, LOC130060718 +6 more	Copy number loss	See cases	GBenign
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 147860	GRCh38/hg38 17q12(chr17:35129859-35767049)x3	AP2B1, C17orf50 +46 more	Copy number gain	See cases	GUncertain significance
Select item 145062	GRCh38/hg38 17q12(chr17:35358082-35427813)x1	LOC105371933, LOC130060718 +7 more	Copy number loss	See cases	GBenign
Select item 59844	GRCh38/hg38 17q12(chr17:35360337-35411448)x1	LOC105371933, LOC130060718 +6 more	Copy number loss	See cases	GBenign

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Links from Gene

Items: 93