ClinVar for Gene (Select 57666) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278027	NM_001367871.1(FBRSL1):c.2830G>T (p.Ala944Ser)	FBRSL1 (A987S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278026	NM_001367871.1(FBRSL1):c.83G>A (p.Arg28His)	FBRSL1 (R28H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278025	NM_001367871.1(FBRSL1):c.2875C>G (p.Leu959Val)	FBRSL1 (L752V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278024	NM_001367871.1(FBRSL1):c.2515G>C (p.Gly839Arg)	FBRSL1 (G839R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278023	NM_001367871.1(FBRSL1):c.1936T>C (p.Phe646Leu)	FBRSL1 (F689L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278022	NM_001367871.1(FBRSL1):c.2059C>A (p.His687Asn)	FBRSL1 (H480N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278020	NM_001367871.1(FBRSL1):c.2480C>T (p.Pro827Leu)	FBRSL1 (P620L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278019	NM_001367871.1(FBRSL1):c.2475G>T (p.Glu825Asp)	FBRSL1 (E618D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278018	NM_001367871.1(FBRSL1):c.170C>T (p.Ala57Val)	FBRSL1 (A57V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278017	NM_001367871.1(FBRSL1):c.2662C>T (p.Arg888Cys)	FBRSL1 (R906C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244436	NC_000012.11:g.(?_132414268)_(133263901_?)del	DDX51, EP400 +7 more	Deletion	not provided	GPathogenic
Select item 3093470	NM_001367871.1(FBRSL1):c.838G>A (p.Gly280Ser)	FBRSL1 (G280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093469	NM_001367871.1(FBRSL1):c.814G>A (p.Ala272Thr)	FBRSL1 (A272T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093468	NM_001367871.1(FBRSL1):c.80C>T (p.Ala27Val)	FBRSL1 (A27V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093467	NM_001367871.1(FBRSL1):c.763G>A (p.Glu255Lys)	FBRSL1 (E255K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093466	NM_001367871.1(FBRSL1):c.736A>C (p.Lys246Gln)	FBRSL1 (K246Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093464	NM_001367871.1(FBRSL1):c.517G>A (p.Asp173Asn)	FBRSL1 (D173N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093463	NM_001367871.1(FBRSL1):c.488A>G (p.Gln163Arg)	FBRSL1 (Q163R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093462	NM_001367871.1(FBRSL1):c.46G>A (p.Asp16Asn)	FBRSL1 (D16N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093461	NM_001367871.1(FBRSL1):c.377C>T (p.Pro126Leu)	FBRSL1 (P126L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093460	NM_001367871.1(FBRSL1):c.358C>G (p.Arg120Gly)	FBRSL1 (R120G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093459	NM_001367871.1(FBRSL1):c.337C>T (p.Arg113Cys)	FBRSL1 (R113C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093458	NM_001367871.1(FBRSL1):c.2972C>A (p.Ser991Tyr)	FBRSL1 (S1009Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093457	NM_001367871.1(FBRSL1):c.2944C>T (p.Leu982Phe)	FBRSL1 (L1000F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093456	NM_001367871.1(FBRSL1):c.2903C>T (p.Pro968Leu)	FBRSL1 (P968L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093455	NM_001367871.1(FBRSL1):c.2870C>T (p.Pro957Leu)	FBRSL1 (P957L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093454	NM_001367871.1(FBRSL1):c.2824C>T (p.Leu942Phe)	FBRSL1 (L942F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093453	NM_001367871.1(FBRSL1):c.2821G>A (p.Gly941Arg)	FBRSL1 (G941R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093451	NM_001367871.1(FBRSL1):c.2596C>T (p.Pro866Ser)	FBRSL1 (P909S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093449	NM_001367871.1(FBRSL1):c.2534T>C (p.Leu845Pro)	FBRSL1 (L638P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093447	NM_001367871.1(FBRSL1):c.2287G>A (p.Ala763Thr)	FBRSL1 (A781T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093446	NM_001367871.1(FBRSL1):c.2272G>A (p.Gly758Ser)	FBRSL1 (G758S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3093445	NM_001367871.1(FBRSL1):c.2257G>A (p.Gly753Ser)	FBRSL1 (G546S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093444	NM_001367871.1(FBRSL1):c.2180A>C (p.Asn727Thr)	FBRSL1 (N770T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093443	NM_001367871.1(FBRSL1):c.2140C>T (p.Arg714Trp)	FBRSL1 (R714W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093442	NM_001367871.1(FBRSL1):c.2021C>T (p.Pro674Leu)	FBRSL1 (P692L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093441	NM_001367871.1(FBRSL1):c.1915C>T (p.Pro639Ser)	FBRSL1 (P432S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093440	NM_001367871.1(FBRSL1):c.1855A>G (p.Asn619Asp)	FBRSL1 (N619D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093438	NM_001367871.1(FBRSL1):c.1769C>T (p.Ala590Val)	FBRSL1 (A633V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093437	NM_001367871.1(FBRSL1):c.161C>G (p.Pro54Arg)	FBRSL1 (P54R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093436	NM_001367871.1(FBRSL1):c.1615C>T (p.Arg539Trp)	FBRSL1 (R534W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093435	NM_001367871.1(FBRSL1):c.158C>T (p.Pro53Leu)	FBRSL1 (P53L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093433	NM_001367871.1(FBRSL1):c.1103G>A (p.Arg368Gln)	FBRSL1 (R368Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046268	NM_001367871.1(FBRSL1):c.845G>A (p.Arg282His)	FBRSL1 (R282H)	Single nucleotide variant (missense variant)	FBRSL1-related disorder	GLikely benign
Select item 3037381	NM_001367871.1(FBRSL1):c.2524_2538del (p.Arg842_Gly846del)	FBRSL1	Deletion	Syndromic disease	GBenign
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2643652	NM_001367871.1(FBRSL1):c.2961G>A (p.Ala987=)	FBRSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643651	NM_001367871.1(FBRSL1):c.2544G>A (p.Pro848=)	FBRSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643650	NM_001367871.1(FBRSL1):c.1929G>A (p.Pro643=)	FBRSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643649	NM_001367871.1(FBRSL1):c.1656C>T (p.His552=)	FBRSL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2643648	NM_001367871.1(FBRSL1):c.1326G>A (p.Pro442=)	FBRSL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2643647	NM_001367871.1(FBRSL1):c.966G>A (p.Ala322=)	FBRSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643646	NM_001367871.1(FBRSL1):c.876C>T (p.Pro292=)	FBRSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643645	NM_001367871.1(FBRSL1):c.489+2042A>G	FBRSL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2643644	NM_001367871.1(FBRSL1):c.489+1799G>A	FBRSL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2643643	NM_001367871.1(FBRSL1):c.489+1139C>T	FBRSL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2633161	NM_001367871.1(FBRSL1):c.430C>T (p.Gln144Ter)	FBRSL1 (Q144* +1 more)	Single nucleotide variant (nonsense +1 more)	FBRSL1-related disorder	GUncertain significance
Select item 2632024	NM_001367871.1(FBRSL1):c.1886G>C (p.Ser629Thr)	FBRSL1 (S422T +3 more)	Single nucleotide variant (missense variant)	FBRSL1-related disorder	GUncertain significance
Select item 2630084	NM_001367871.1(FBRSL1):c.1912+1G>A	FBRSL1	Single nucleotide variant (splice donor variant)	FBRSL1-related disorder	GUncertain significance
Select item 2622584	NM_001367871.1(FBRSL1):c.2893C>A (p.Pro965Thr)	FBRSL1 (P1008T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621001	NM_001367871.1(FBRSL1):c.916C>T (p.Pro306Ser)	FBRSL1 (P306S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616774	NM_001367871.1(FBRSL1):c.967G>A (p.Gly323Ser)	FBRSL1 (G323S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614464	NM_001367871.1(FBRSL1):c.721G>T (p.Ala241Ser)	FBRSL1 (A241S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605534	NM_001367871.1(FBRSL1):c.2582C>G (p.Pro861Arg)	FBRSL1 (P879R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604449	NM_001367871.1(FBRSL1):c.1377+81G>A	FBRSL1 (E407K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596356	NM_001367871.1(FBRSL1):c.2342G>A (p.Arg781Gln)	FBRSL1 (R799Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595279	NM_001367871.1(FBRSL1):c.902C>T (p.Pro301Leu)	FBRSL1 (P301L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594521	NM_001367871.1(FBRSL1):c.1629+23C>T	FBRSL1 (P546L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2594071	NM_001367871.1(FBRSL1):c.1377+268C>T	FBRSL1 (P469L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591723	NM_001367871.1(FBRSL1):c.2807C>T (p.Ala936Val)	FBRSL1 (A729V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590404	NM_001367871.1(FBRSL1):c.172G>A (p.Ala58Thr)	FBRSL1 (A58T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2568640	NM_001367871.1(FBRSL1):c.1377+292C>T	FBRSL1 (P477L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548909	NM_001367871.1(FBRSL1):c.922G>A (p.Gly308Ser)	FBRSL1 (G308S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543215	NM_001367871.1(FBRSL1):c.772G>A (p.Ala258Thr)	FBRSL1 (A258T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2541138	NM_001367871.1(FBRSL1):c.2738C>T (p.Ala913Val)	FBRSL1 (A706V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527939	NM_001367871.1(FBRSL1):c.2254G>A (p.Ala752Thr)	FBRSL1 (A545T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526858	NM_001367871.1(FBRSL1):c.94C>T (p.Pro32Ser)	FBRSL1 (P32S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526723	NM_001367871.1(FBRSL1):c.2376G>C (p.Glu792Asp)	FBRSL1 (E585D +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2526722	NM_001367871.1(FBRSL1):c.2375A>C (p.Glu792Ala)	FBRSL1 (E585A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524426	NM_001367871.1(FBRSL1):c.887G>A (p.Arg296His)	FBRSL1 (R296H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523003	NM_001367871.1(FBRSL1):c.833C>T (p.Pro278Leu)	FBRSL1 (P278L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522984	NM_001367871.1(FBRSL1):c.2242C>T (p.Pro748Ser)	FBRSL1 (P541S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521590	NM_001367871.1(FBRSL1):c.1377+289C>T	FBRSL1 (P476L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517561	NM_001367871.1(FBRSL1):c.379C>T (p.Pro127Ser)	FBRSL1 (P127S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2513771	NM_001367871.1(FBRSL1):c.775G>A (p.Glu259Lys)	FBRSL1 (E259K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500706	NC_000012.12:g.132237283_132491257dup	FBRSL1, GALNT9 +16 more	Duplication	not specified	GUncertain significance
Select item 2494490	NM_001367871.1(FBRSL1):c.2746G>A (p.Ala916Thr)	FBRSL1 (A709T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493846	NM_001367871.1(FBRSL1):c.1377+172C>A	FBRSL1 (A437E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492228	NM_001367871.1(FBRSL1):c.119C>T (p.Pro40Leu)	FBRSL1 (P40L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479664	NM_001367871.1(FBRSL1):c.1802A>G (p.Gln601Arg)	FBRSL1 (Q619R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473357	NM_001367871.1(FBRSL1):c.871C>A (p.Pro291Thr)	FBRSL1 (P291T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470663	NM_001367871.1(FBRSL1):c.2567G>A (p.Arg856His)	FBRSL1 (R899H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468110	NM_001367871.1(FBRSL1):c.563G>A (p.Arg188Gln)	FBRSL1 (R188Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2466386	NM_001367871.1(FBRSL1):c.2219C>T (p.Thr740Met)	FBRSL1 (T740M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465439	NM_001367871.1(FBRSL1):c.2642C>T (p.Pro881Leu)	FBRSL1 (P881L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443335	NM_001367871.1(FBRSL1):c.115G>T (p.Glu39Ter)	FBRSL1 (E39*)	Single nucleotide variant (nonsense +1 more)	See cases	GLikely benign
Select item 2443334	NM_001367871.1(FBRSL1):c.1912+3G>T	FBRSL1	Single nucleotide variant (intron variant)	See cases	GLikely benign
Select item 2425542	NC_000012.11:g.(?_132414268)_(133263901_?)dup	DDX51, EP400 +7 more	Duplication	Colorectal cancer, susceptibility to, 12	GUncertain significance
Select item 2421644	NM_001367871.1(FBRSL1):c.885_899dup (p.Pro299_Gln300insHisArgHisThrPro)	FBRSL1	Duplication (inframe_insertion)	not provided	GUncertain significance

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