Fibp Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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74 records found for search term Fibp

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11541260	CV248749	single nucleotide variant	FIBP, GLN218TER	THAUVIN-ROBINET-FAIVRE SYNDROME [RCV000240847]	pathogenic				Human		name
597658163	CV3731767	duplication	FIBP, 7-BP DUP, NT412-3	Tall stature-intellectual disability-renal anomalies syndrome [RCV005001944]	pathogenic				Human	1	name
13483473	CV444860	single nucleotide variant	NM_004214.5(FIBP):c.86-2A>C	not provided [RCV000522065]	uncertain significance	11	65888134	65888134	Human		name
408383995	CV3506256	single nucleotide variant	NM_004214.5(FIBP):c.513-1G>C	FIBP-related disorder [RCV004731465]	likely pathogenic	11	65885664	65885664	Human		name , trait , alternate_id
597832787	CV3736017	single nucleotide variant	NM_004214.5(FIBP):c.285-2A>T	Tall stature-intellectual disability-renal anomalies syndrome [RCV005065365]	uncertain significance	11	65887728	65887728	Human	1	name
21069754	CV789377	single nucleotide variant	NM_004214.5(FIBP):c.412-11C>G	Tall stature-intellectual disability-renal anomalies syndrome [RCV000985021]	uncertain significance	11	65886433	65886433	Human	1	name
150436453	CV1275112	single nucleotide variant	NM_004214.5(FIBP):c.1004+33T>C	Tall stature-intellectual disability-renal anomalies syndrome [RCV001702328]\|not provided [RCV004718952]	benign	11	65884359	65884359	Human	1	name
15149496	CV779573	single nucleotide variant	NM_004214.5(FIBP):c.1005-10G>A	not provided [RCV000967764]	benign	11	65884053	65884053	Human		name
15141428	CV752826	single nucleotide variant	NM_004214.5(FIBP):c.21C>T (p.Ile7=)	not provided [RCV000921839]	likely benign	11	65888398	65888398	Human		name
15132076	CV784091	single nucleotide variant	NM_004214.5(FIBP):c.24C>T (p.Phe8=)	not provided [RCV000981320]	likely benign	11	65888395	65888395	Human		name
15117283	CV713047	single nucleotide variant	NM_004214.5(FIBP):c.150G>C (p.Ala50=)	not provided [RCV000962178]	benign	11	65888068	65888068	Human		name
15173152	CV724613	single nucleotide variant	NM_004214.5(FIBP):c.219G>T (p.Pro73=)	not provided [RCV000883980]	benign\|likely benign	11	65887999	65887999	Human		name
15199733	CV768612	single nucleotide variant	NM_004214.5(FIBP):c.297T>C (p.Phe99=)	not provided [RCV000935185]	likely benign	11	65887714	65887714	Human		name
401909495	CV2813363	single nucleotide variant	NM_004214.5(FIBP):c.525C>T (p.Ala175=)	not provided [RCV003398008]	likely benign	11	65885651	65885651	Human		name
405274735	CV3204423	single nucleotide variant	NM_004214.5(FIBP):c.963G>A (p.Leu321=)	FIBP-related disorder [RCV003951868]	likely benign	11	65884433	65884433	Human		name , trait , alternate_id
405871617	CV3397980	single nucleotide variant	NM_004214.5(FIBP):c.675C>T (p.Asp225=)	not provided [RCV004574980]	likely benign	11	65885158	65885158	Human		name
15138748	CV713044	single nucleotide variant	NM_004214.5(FIBP):c.897C>T (p.Leu299=)	FIBP-related disorder [RCV003897946]\|not provided [RCV000965843]	benign\|likely benign	11	65884579	65884579	Human	1	name , trait , alternate_id
15117271	CV713045	single nucleotide variant	NM_004214.5(FIBP):c.720A>T (p.Leu240=)	not provided [RCV000962176]	benign	11	65885113	65885113	Human		name
15117278	CV713046	single nucleotide variant	NM_004214.5(FIBP):c.645C>T (p.Val215=)	not provided [RCV000962177]	benign	11	65885531	65885531	Human		name
15153367	CV724612	single nucleotide variant	NM_004214.5(FIBP):c.561G>A (p.Gly187=)	FIBP-related disorder [RCV003940395]\|not provided [RCV000879995]	likely benign	11	65885615	65885615	Human	1	name , trait , alternate_id
15168373	CV738154	single nucleotide variant	NM_004214.5(FIBP):c.789C>T (p.Gly263=)	not provided [RCV000904839]	likely benign	11	65884965	65884965	Human		name
15100140	CV752824	single nucleotide variant	NM_004214.5(FIBP):c.960C>T (p.Phe320=)	not provided [RCV000914562]	likely benign	11	65884436	65884436	Human		name
155993731	CV2253612	single nucleotide variant	NM_004214.5(FIBP):c.166A>G (p.Thr56Ala)	Inborn genetic diseases [RCV002793905]	uncertain significance	11	65888052	65888052	Human	1	name
155969400	CV2309065	single nucleotide variant	NM_004214.5(FIBP):c.214G>T (p.Ala72Ser)	Inborn genetic diseases [RCV002906787]	uncertain significance	11	65888004	65888004	Human	1	name
329380276	CV2466525	single nucleotide variant	NM_004214.5(FIBP):c.214G>A (p.Ala72Thr)	Inborn genetic diseases [RCV003212722]	uncertain significance	11	65888004	65888004	Human	1	name
401759871	CV2701760	single nucleotide variant	NM_004214.5(FIBP):c.196C>T (p.Leu66Phe)	Inborn genetic diseases [RCV003257018]	uncertain significance	11	65888022	65888022	Human	1	name
401748897	CV2708399	single nucleotide variant	NM_004214.5(FIBP):c.263G>A (p.Arg88Gln)	Inborn genetic diseases [RCV003294773]	uncertain significance	11	65887955	65887955	Human	1	name
405700976	CV3225917	deletion	NM_004214.5(FIBP):c.747del (p.His250fs)	Tall stature-intellectual disability-renal anomalies syndrome [RCV003989356]	likely pathogenic	11	65885086	65885086	Human	1	name
405779218	CV3250629	single nucleotide variant	NM_004214.5(FIBP):c.234C>G (p.His78Gln)	Inborn genetic diseases [RCV004386502]	uncertain significance	11	65887984	65887984	Human	1	name
407502625	CV3435861	single nucleotide variant	NM_004214.5(FIBP):c.256C>G (p.Pro86Ala)	Inborn genetic diseases [RCV004623505]	uncertain significance	11	65887962	65887962	Human	1	name
597653840	CV3669563	single nucleotide variant	NM_004214.5(FIBP):c.206T>G (p.Leu69Arg)	Inborn genetic diseases [RCV004975109]	uncertain significance	11	65888012	65888012	Human	1	name
13488934	CV444859	deletion	NM_004214.5(FIBP):c.490del (p.Leu164fs)	not provided [RCV000523729]	uncertain significance	11	65886344	65886344	Human		name
15128763	CV713043	single nucleotide variant	NM_004214.5(FIBP):c.1044C>T (p.Arg348=)	not provided [RCV000964141]	likely benign	11	65884004	65884004	Human		name
15203371	CV752825	single nucleotide variant	NM_004214.5(FIBP):c.123C>G (p.Ile41Met)	not provided [RCV000913920]	likely benign	11	65888095	65888095	Human		name
126741048	CV1020906	single nucleotide variant	NM_004214.5(FIBP):c.668A>G (p.Asp223Gly)	Tall stature-intellectual disability-renal anomalies syndrome [RCV001336155]	uncertain significance	11	65885165	65885165	Human	1	name
10042290	CV187243	single nucleotide variant	NM_004214.5(FIBP):c.652C>T (p.Gln218Ter)	Congenital ocular coloboma [RCV000169762]\|Tall stature-intellectual disability-renal anomalies syndrome [RCV000240847]	pathogenic\|likely pathogenic\|likely benign	11	65885181	65885181	Human	6	name
156044740	CV2215952	single nucleotide variant	NM_004214.5(FIBP):c.827C>A (p.Ser276Tyr)	Inborn genetic diseases [RCV002692494]	uncertain significance	11	65884649	65884649	Human	1	name
156239219	CV2235898	single nucleotide variant	NM_004214.5(FIBP):c.586T>G (p.Phe196Val)	Inborn genetic diseases [RCV002768158]	uncertain significance	11	65885590	65885590	Human	1	name
155975576	CV2235899	single nucleotide variant	NM_004214.5(FIBP):c.598G>C (p.Ala200Pro)	Inborn genetic diseases [RCV002777239]	uncertain significance	11	65885578	65885578	Human	1	name
156349218	CV2309322	single nucleotide variant	NM_004214.5(FIBP):c.628T>C (p.Trp210Arg)	Inborn genetic diseases [RCV002939600]	uncertain significance	11	65885548	65885548	Human	1	name
156042618	CV2310987	single nucleotide variant	NM_004214.5(FIBP):c.385A>G (p.Ile129Val)	Inborn genetic diseases [RCV002910726]	uncertain significance	11	65887626	65887626	Human	1	name
156142223	CV2358474	single nucleotide variant	NM_004214.5(FIBP):c.940C>T (p.Leu314Phe)	Inborn genetic diseases [RCV003004027]	uncertain significance	11	65884456	65884456	Human	1	name
156187438	CV2397891	single nucleotide variant	NM_004214.5(FIBP):c.518A>G (p.Tyr173Cys)	Inborn genetic diseases [RCV002788965]	uncertain significance	11	65885658	65885658	Human	1	name
329388891	CV2448471	single nucleotide variant	NM_004214.5(FIBP):c.949G>A (p.Val317Met)	Inborn genetic diseases [RCV003190846]	uncertain significance	11	65884447	65884447	Human	1	name
329359444	CV2451020	single nucleotide variant	NM_004214.5(FIBP):c.926C>T (p.Ser309Phe)	Inborn genetic diseases [RCV003204490]	uncertain significance	11	65884470	65884470	Human	1	name
401748797	CV2694505	single nucleotide variant	NM_004214.5(FIBP):c.944G>T (p.Ser315Ile)	Inborn genetic diseases [RCV003253180]	uncertain significance	11	65884452	65884452	Human	1	name
401758798	CV2705142	single nucleotide variant	NM_004214.5(FIBP):c.589G>A (p.Gly197Ser)	Inborn genetic diseases [RCV003256600]	uncertain significance	11	65885587	65885587	Human	1	name
401885959	CV2771533	single nucleotide variant	NM_004214.5(FIBP):c.973T>G (p.Ser325Ala)	Inborn genetic diseases [RCV003366708]	uncertain significance	11	65884423	65884423	Human	1	name
401884187	CV2782374	single nucleotide variant	NM_004214.5(FIBP):c.665T>G (p.Met222Arg)	Inborn genetic diseases [RCV003386390]	uncertain significance	11	65885168	65885168	Human	1	name
405779231	CV3250631	single nucleotide variant	NM_004214.5(FIBP):c.427C>T (p.Arg143Trp)	Inborn genetic diseases [RCV004386504]	uncertain significance	11	65886407	65886407	Human	1	name
405779238	CV3250632	single nucleotide variant	NM_004214.5(FIBP):c.455G>A (p.Arg152Gln)	Inborn genetic diseases [RCV004386505]	uncertain significance	11	65886379	65886379	Human	1	name
405779244	CV3250633	single nucleotide variant	NM_004214.5(FIBP):c.712A>C (p.Lys238Gln)	Inborn genetic diseases [RCV004386506]	uncertain significance	11	65885121	65885121	Human	1	name
405779251	CV3250634	single nucleotide variant	NM_004214.5(FIBP):c.917C>T (p.Pro306Leu)	Inborn genetic diseases [RCV004386507]	uncertain significance	11	65884479	65884479	Human	1	name
408383706	CV3507135	single nucleotide variant	NM_004214.5(FIBP):c.519T>G (p.Tyr173Ter)	FIBP-related disorder [RCV004730827]	uncertain significance	11	65885657	65885657	Human		name , trait , alternate_id
597653795	CV3669555	single nucleotide variant	NM_004214.5(FIBP):c.946G>A (p.Asp316Asn)	Inborn genetic diseases [RCV004975102]	uncertain significance	11	65884450	65884450	Human	1	name
597653807	CV3669557	single nucleotide variant	NM_004214.5(FIBP):c.850G>A (p.Ala284Thr)	Inborn genetic diseases [RCV004975104]	uncertain significance	11	65884626	65884626	Human	1	name
597653816	CV3669558	single nucleotide variant	NM_004214.5(FIBP):c.724G>T (p.Ala242Ser)	Inborn genetic diseases [RCV004975105]	uncertain significance	11	65885109	65885109	Human	1	name
597653824	CV3669560	single nucleotide variant	NM_004214.5(FIBP):c.775C>T (p.Arg259Trp)	Inborn genetic diseases [RCV004975106]	uncertain significance	11	65884979	65884979	Human	1	name
597653829	CV3669561	single nucleotide variant	NM_004214.5(FIBP):c.996T>G (p.Asp332Glu)	Inborn genetic diseases [RCV004975107]	uncertain significance	11	65884400	65884400	Human	1	name
598200058	CV3955771	single nucleotide variant	NM_004214.5(FIBP):c.502C>T (p.Arg168Trp)	Inborn genetic diseases [RCV005336596]	uncertain significance	11	65886332	65886332	Human	1	name
598200064	CV3955772	single nucleotide variant	NM_004214.5(FIBP):c.721G>C (p.Val241Leu)	Inborn genetic diseases [RCV005336597]	uncertain significance	11	65885112	65885112	Human	1	name
126741042	CV1020905	single nucleotide variant	NM_004214.5(FIBP):c.1004G>C (p.Arg335Pro)	Tall stature-intellectual disability-renal anomalies syndrome [RCV001336154]	uncertain significance	11	65884392	65884392	Human	1	name
155968169	CV2261962	single nucleotide variant	NM_004214.5(FIBP):c.1021G>C (p.Asp341His)	Inborn genetic diseases [RCV002817458]	uncertain significance	11	65884027	65884027	Human	1	name
156071428	CV2365304	single nucleotide variant	NM_004214.5(FIBP):c.1042C>T (p.Arg348Cys)	Inborn genetic diseases [RCV003000760]	uncertain significance	11	65884006	65884006	Human	1	name
156170823	CV2400614	single nucleotide variant	NM_004214.5(FIBP):c.1055T>G (p.Leu352Arg)	Inborn genetic diseases [RCV002765277]\|Tall stature-intellectual disability-renal anomalies syndrome [RCV004784122]	uncertain significance	11	65883993	65883993	Human	2	name
401737007	CV2689543	single nucleotide variant	NM_004214.5(FIBP):c.1024C>T (p.Arg342Cys)	Inborn genetic diseases [RCV003291449]	uncertain significance	11	65884024	65884024	Human	1	name
401749166	CV2708486	single nucleotide variant	NM_004214.5(FIBP):c.1064A>G (p.Tyr355Cys)	Inborn genetic diseases [RCV003294822]	uncertain significance	11	65883984	65883984	Human	1	name
597653801	CV3669556	single nucleotide variant	NM_004214.5(FIBP):c.1051C>T (p.Leu351Phe)	Inborn genetic diseases [RCV004975103]	uncertain significance	11	65883997	65883997	Human	1	name
597653834	CV3669562	single nucleotide variant	NM_004214.5(FIBP):c.1034G>A (p.Gly345Asp)	Inborn genetic diseases [RCV004975108]	uncertain significance	11	65884014	65884014	Human	1	name
597653846	CV3669564	single nucleotide variant	NM_004214.5(FIBP):c.1057C>T (p.Arg353Cys)	Inborn genetic diseases [RCV004975110]	uncertain significance	11	65883991	65883991	Human	1	name
617151403	CV4017886	single nucleotide variant	NM_004214.5(FIBP):c.1003C>T (p.Arg335Ter)	Tall stature-intellectual disability-renal anomalies syndrome [RCV005417676]	uncertain significance	11	65884393	65884393	Human	1	name
15151715	CV724611	single nucleotide variant	NM_004214.5(FIBP):c.1030A>G (p.Met344Val)	not provided [RCV000879655]	benign	11	65884018	65884018	Human		name
405701208	CV3224971	deletion	NM_004214.5(FIBP):c.558_559del (p.Gly187fs)	Tall stature-intellectual disability-renal anomalies syndrome [RCV003989255]	likely pathogenic	11	65885617	65885618	Human	1	name
11541262	CV248750	insertion	NM_004214.5(FIBP):c.175_176insTAA (p.His59delinsLeuAsn)	Tall stature-intellectual disability-renal anomalies syndrome [RCV000240848]	pathogenic\|likely pathogenic	11	65888042	65888043	Human	1	name

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