Pfn1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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93 records found for search term Pfn1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405271372	CV3209338	single nucleotide variant	NM_005022.4(PFN1):c.*7C>G	PFN1-related disorder [RCV003949679]	likely benign	17	4945893	4945893	Human		name , trait , alternate_id
408366458	CV3509931	single nucleotide variant	NM_005022.4(PFN1):c.*4C>T	PFN1-related disorder [RCV004756685]	likely benign	17	4945896	4945896	Human		name , trait , alternate_id
408366536	CV3511098	single nucleotide variant	NM_005022.4(PFN1):c.*5G>A	PFN1-related disorder [RCV004756760]	likely benign	17	4945895	4945895	Human		name , trait , alternate_id
150405934	CV1191972	single nucleotide variant	NM_005022.4(PFN1):c.-58C>G	not provided [RCV001564513]	likely benign	17	4948452	4948452	Human		name
150460377	CV1205766	single nucleotide variant	NM_005022.4(PFN1):c.-86G>A	not provided [RCV001586723]	likely benign	17	4948480	4948480	Human		name
150500309	CV1224764	single nucleotide variant	NM_005022.4(PFN1):c.-78C>T	not provided [RCV001620596]	benign	17	4948472	4948472	Human		name
150332691	CV1169733	single nucleotide variant	NM_005022.4(PFN1):c.-132C>T	not provided [RCV001537000]	likely benign	17	4948526	4948526	Human		name
126740233	CV1033402	single nucleotide variant	NM_005022.4(PFN1):c.133-3C>T	not provided [RCV001350713]	uncertain significance	17	4946823	4946823	Human		name
156009308	CV1870703	single nucleotide variant	NM_005022.4(PFN1):c.133-8T>G	not provided [RCV003076993]	likely benign	17	4946828	4946828	Human		name
405229506	CV3065932	single nucleotide variant	NM_005022.4(PFN1):c.132+5T>A	not provided [RCV003734522]	uncertain significance	17	4948258	4948258	Human		name
405122840	CV3126308	single nucleotide variant	NM_005022.4(PFN1):c.133-9C>T	not provided [RCV003815060]	likely benign	17	4946829	4946829	Human		name
405253254	CV3178242	single nucleotide variant	NM_005022.4(PFN1):c.132+4C>T	not provided [RCV003871023]	uncertain significance	17	4948259	4948259	Human		name
597871781	CV3835758	single nucleotide variant	NM_005022.4(PFN1):c.326-4C>T	not provided [RCV005176749]	likely benign	17	4946001	4946001	Human		name
617152721	CV4018239	single nucleotide variant	NM_005022.4(PFN1):c.326-9C>T	not specified [RCV005418499]	likely benign	17	4946006	4946006	Human		name
15175156	CV778263	single nucleotide variant	NM_005022.4(PFN1):c.326-7C>T	not provided [RCV000950511]	likely benign	17	4946004	4946004	Human		name
150501026	CV1213270	single nucleotide variant	NM_005022.4(PFN1):c.326-92G>A	not provided [RCV001594682]	benign	17	4946089	4946089	Human		name
152137360	CV1652324	single nucleotide variant	NM_005022.4(PFN1):c.326-17C>T	not provided [RCV002083693]	likely benign	17	4946014	4946014	Human		name
156197199	CV1897146	single nucleotide variant	NM_005022.4(PFN1):c.132+12C>A	not provided [RCV002574617]	likely benign	17	4948251	4948251	Human		name
155940687	CV2022188	single nucleotide variant	NM_005022.4(PFN1):c.132+20G>T	not provided [RCV002730094]	likely benign	17	4948243	4948243	Human		name
405243289	CV2974824	single nucleotide variant	NM_005022.4(PFN1):c.326-13C>A	not provided [RCV003684483]	likely benign	17	4946010	4946010	Human		name
405143511	CV3126082	single nucleotide variant	NM_005022.4(PFN1):c.326-16T>C	not provided [RCV003816998]	benign	17	4946013	4946013	Human		name
150331289	CV1169732	single nucleotide variant	NM_005022.4(PFN1):c.325+288T>C	not provided [RCV001536416]	benign	17	4946340	4946340	Human		name
150428058	CV1188553	single nucleotide variant	NM_005022.4(PFN1):c.326-229C>T	not provided [RCV001561754]	likely benign	17	4946226	4946226	Human		name
150404941	CV1195207	single nucleotide variant	NM_005022.4(PFN1):c.326-254A>G	not provided [RCV001571402]	likely benign	17	4946251	4946251	Human		name
150440319	CV1201671	single nucleotide variant	NM_005022.4(PFN1):c.133-125A>G	not provided [RCV001583483]	likely benign	17	4946945	4946945	Human		name
150489377	CV1250544	single nucleotide variant	NM_005022.4(PFN1):c.132+133G>C	not provided [RCV001674507]	benign	17	4948130	4948130	Human		name
150505950	CV1254748	single nucleotide variant	NM_005022.4(PFN1):c.325+296T>A	not provided [RCV001678053]	benign	17	4946332	4946332	Human		name
150513562	CV1285208	single nucleotide variant	NM_005022.4(PFN1):c.325+149C>T	not provided [RCV001722078]	benign	17	4946479	4946479	Human		name
150513565	CV1285209	single nucleotide variant	NM_005022.4(PFN1):c.133-197C>G	not provided [RCV001722079]	benign	17	4947017	4947017	Human		name
152165114	CV1543694	microsatellite	NM_005022.4(PFN1):c.326-14TCC[3]	not provided [RCV002123945]	likely benign	17	4946000	4946002	Human		name
405182290	CV2909641	single nucleotide variant	NM_005022.4(PFN1):c.24C>T (p.Ile8=)	not provided [RCV003564099]	likely benign	17	4948371	4948371	Human		name
152127525	CV1598529	deletion	NM_005022.4(PFN1):c.326-15_326-14del	not provided [RCV002155075]	likely benign	17	4946011	4946012	Human		name
156317605	CV2025085	single nucleotide variant	NM_005022.4(PFN1):c.45G>C (p.Gly15=)	not provided [RCV002716892]	likely benign	17	4948350	4948350	Human		name
155966692	CV2142588	single nucleotide variant	NM_005022.4(PFN1):c.90C>T (p.Ser30=)	not provided [RCV002995422]	likely benign	17	4948305	4948305	Human		name
404980859	CV3006248	deletion	NM_005022.4(PFN1):c.326-21_326-18del	not provided [RCV003691211]	likely benign	17	4946015	4946018	Human		name
405045427	CV3017623	microsatellite	NM_005022.4(PFN1):c.326-17_326-16del	not provided [RCV003696561]	likely benign	17	4946013	4946014	Human		name
127237269	CV1083248	single nucleotide variant	NM_005022.4(PFN1):c.216G>A (p.Ser72=)	not provided [RCV001392273]	likely benign	17	4946737	4946737	Human		name
127311175	CV1126424	single nucleotide variant	NM_005022.4(PFN1):c.123C>T (p.Val41=)	not provided [RCV001456799]	likely benign	17	4948272	4948272	Human		name
152140319	CV1625117	single nucleotide variant	NM_005022.4(PFN1):c.222C>T (p.Ile74=)	not provided [RCV002219283]	likely benign	17	4946731	4946731	Human		name
405013831	CV3138832	single nucleotide variant	NM_005022.4(PFN1):c.105C>T (p.Val35=)	not provided [RCV003829168]	likely benign	17	4948290	4948290	Human		name
405262517	CV3200162	single nucleotide variant	NM_005022.4(PFN1):c.279C>T (p.Thr93=)	PFN1-related disorder [RCV003967275]	likely benign	17	4946674	4946674	Human		name , trait , alternate_id
408366740	CV3514385	single nucleotide variant	NM_005022.4(PFN1):c.294C>G (p.Thr98=)	PFN1-related disorder [RCV004756924]	likely benign	17	4946659	4946659	Human		name , trait , alternate_id
597918911	CV3737900	single nucleotide variant	NM_005022.4(PFN1):c.231A>G (p.Ser77=)	not provided [RCV005074499]	likely benign	17	4946722	4946722	Human		name
597891188	CV3762965	single nucleotide variant	NM_005022.4(PFN1):c.201G>A (p.Gly67=)	not provided [RCV005110738]	likely benign	17	4946752	4946752	Human		name
597897817	CV3826549	single nucleotide variant	NM_005022.4(PFN1):c.234G>A (p.Leu78=)	not provided [RCV005180682]	likely benign	17	4946719	4946719	Human		name
15188206	CV704200	single nucleotide variant	NM_005022.4(PFN1):c.114A>G (p.Lys38=)	not provided [RCV000953813]	likely benign	17	4948281	4948281	Human		name
15140968	CV755925	single nucleotide variant	NM_005022.4(PFN1):c.273G>A (p.Lys91=)	not provided [RCV000921766]	likely benign	17	4946680	4946680	Human		name
127308154	CV1158004	single nucleotide variant	NM_005022.4(PFN1):c.399C>T (p.Ser133=)	PFN1-related disorder [RCV003948534]\|not provided [RCV001517400]	benign\|likely benign	17	4945924	4945924	Human	1	name , trait , alternate_id
151717510	CV1334967	single nucleotide variant	NM_005022.4(PFN1):c.86C>T (p.Pro29Leu)	Amyotrophic lateral sclerosis [RCV001843925]\|not provided [RCV002545234]	uncertain significance	17	4948309	4948309	Human	2	name
151817866	CV1505803	single nucleotide variant	NM_005022.4(PFN1):c.68T>G (p.Val23Gly)	not provided [RCV002049498]	uncertain significance	17	4948327	4948327	Human		name
152033891	CV1610480	single nucleotide variant	NM_005022.4(PFN1):c.417G>A (p.Gln139=)	PFN1-related disorder [RCV004756364]\|not provided [RCV002125012]	benign\|likely benign	17	4945906	4945906	Human	1	name , trait , alternate_id
156195065	CV1970969	single nucleotide variant	NM_005022.4(PFN1):c.360C>T (p.His120=)	PFN1-related disorder [RCV003916496]\|not provided [RCV002625540]	likely benign	17	4945963	4945963	Human	1	name , trait , alternate_id
156166864	CV2045229	single nucleotide variant	NM_005022.4(PFN1):c.345C>T (p.Gly115=)	not provided [RCV002741741]	likely benign\|uncertain significance	17	4945978	4945978	Human		name
329359491	CV2451043	single nucleotide variant	NM_005022.4(PFN1):c.35T>C (p.Met12Thr)	Inborn genetic diseases [RCV003204513]	uncertain significance	17	4948360	4948360	Human	1	name
11549236	CV256263	single nucleotide variant	NM_005022.4(PFN1):c.334C>T (p.Leu112=)	Amyotrophic lateral sclerosis type 18 [RCV001788126]\|not provided [RCV001515941]\|not specified [RCV000250149]	benign	17	4945989	4945989	Human	1	name
402505218	CV2927671	single nucleotide variant	NM_005022.4(PFN1):c.31C>T (p.Leu11Phe)	not provided [RCV003574388]	uncertain significance	17	4948364	4948364	Human		name
405211080	CV3062329	single nucleotide variant	NM_005022.4(PFN1):c.38C>T (p.Ala13Val)	not provided [RCV003731917]	uncertain significance	17	4948357	4948357	Human		name
404992008	CV3132270	single nucleotide variant	NM_005022.4(PFN1):c.43G>A (p.Gly15Arg)	not provided [RCV003827208]	uncertain significance	17	4948352	4948352	Human		name
405198709	CV3147093	single nucleotide variant	NM_005022.4(PFN1):c.408G>T (p.Arg136=)	not provided [RCV003844253]	likely benign	17	4945915	4945915	Human		name
408384758	CV3503486	single nucleotide variant	NM_005022.4(PFN1):c.97G>A (p.Ala33Thr)	PFN1-related disorder [RCV004732085]	uncertain significance	17	4948298	4948298	Human		name , trait , alternate_id
598196847	CV3999758	single nucleotide variant	NM_005022.4(PFN1):c.89C>A (p.Ser30Tyr)	Inborn genetic diseases [RCV005397782]	uncertain significance	17	4948306	4948306	Human	1	name
598262216	CV3999759	single nucleotide variant	NM_005022.4(PFN1):c.83C>T (p.Ser28Leu)	Inborn genetic diseases [RCV005387044]	uncertain significance	17	4948312	4948312	Human	1	name
15183043	CV704199	single nucleotide variant	NM_005022.4(PFN1):c.327G>A (p.Thr109=)	PFN1-related disorder [RCV004756129]\|not provided [RCV000952370]	likely benign	17	4945996	4945996	Human	1	name , trait , alternate_id
28876677	CV861418	single nucleotide variant	NM_005022.4(PFN1):c.37G>A (p.Ala13Thr)	Amyotrophic lateral sclerosis [RCV001095491]	uncertain significance	17	4948358	4948358	Human	2	name
151882356	CV1371235	single nucleotide variant	NM_005022.4(PFN1):c.220A>G (p.Ile74Val)	not provided [RCV001886710]	uncertain significance	17	4946733	4946733	Human		name
155798760	CV1860785	single nucleotide variant	NM_005022.4(PFN1):c.280G>T (p.Gly94Cys)	Amyotrophic lateral sclerosis type 18 [RCV002467428]\|PFN1-related disorder [RCV003403843]\|not provided [RCV002571422]	uncertain significance	17	4946673	4946673	Human	1	name , trait , alternate_id
156448527	CV1950810	single nucleotide variant	NM_005022.4(PFN1):c.281G>A (p.Gly94Asp)	not provided [RCV003120089]	uncertain significance	17	4946672	4946672	Human		name
156404822	CV1997507	single nucleotide variant	NM_005022.4(PFN1):c.196C>T (p.Leu66Phe)	not provided [RCV002658149]	uncertain significance	17	4946757	4946757	Human		name
156185097	CV2033806	single nucleotide variant	NM_005022.4(PFN1):c.181G>A (p.Val61Met)	not provided [RCV002765734]	uncertain significance	17	4946772	4946772	Human		name
155935528	CV2057982	single nucleotide variant	NM_005022.4(PFN1):c.278C>T (p.Thr93Ile)	not provided [RCV002815345]	uncertain significance	17	4946675	4946675	Human		name
243051221	CV2419757	single nucleotide variant	NM_005022.4(PFN1):c.185A>G (p.Asn62Ser)	not provided [RCV003156689]	uncertain significance	17	4946768	4946768	Human		name
405746475	CV3368571	single nucleotide variant	NM_005022.4(PFN1):c.136G>C (p.Ala46Pro)	Inborn genetic diseases [RCV004498469]	uncertain significance	17	4946817	4946817	Human	1	name
597961548	CV3795207	single nucleotide variant	NM_005022.4(PFN1):c.187G>A (p.Gly63Arg)	not provided [RCV005138899]	uncertain significance	17	4946766	4946766	Human		name
8603098	CV45720	single nucleotide variant	NM_005022.4(PFN1):c.211T>G (p.Cys71Gly)	Amyotrophic lateral sclerosis type 18 [RCV000030694]	pathogenic	17	4946742	4946742	Human	1	name
126735832	CV1012855	single nucleotide variant	NM_005022.4(PFN1):c.369G>C (p.Leu123Phe)	Inborn genetic diseases [RCV004035136]\|not provided [RCV001324574]	uncertain significance	17	4945954	4945954	Human	1	name
150541220	CV1298712	single nucleotide variant	NM_005022.4(PFN1):c.401A>C (p.His134Pro)	not provided [RCV001760860]	uncertain significance	17	4945922	4945922	Human		name
151876609	CV1344937	single nucleotide variant	NM_005022.4(PFN1):c.406C>T (p.Arg136Trp)	not provided [RCV001999014]	uncertain significance	17	4945917	4945917	Human		name
151742664	CV1478197	duplication	NM_005022.4(PFN1):c.318dup (p.Asp107Ter)	not provided [RCV002005966]	uncertain significance	17	4946634	4946635	Human		name
155698531	CV1777326	single nucleotide variant	NM_005022.4(PFN1):c.404T>G (p.Leu135Arg)	not provided [RCV002295461]	uncertain significance	17	4945919	4945919	Human		name
155796913	CV1863057	single nucleotide variant	NM_005022.4(PFN1):c.351A>T (p.Glu117Asp)	Amyotrophic lateral sclerosis type 18 [RCV002470331]\|not provided [RCV005242255]	benign\|likely benign	17	4945972	4945972	Human	2	name
405224576	CV2887673	single nucleotide variant	NM_005022.4(PFN1):c.409C>T (p.Arg137Cys)	not provided [RCV003554363]	uncertain significance	17	4945914	4945914	Human		name
402475421	CV2920624	single nucleotide variant	NM_005022.4(PFN1):c.301G>A (p.Val101Ile)	not provided [RCV003571343]	uncertain significance	17	4946652	4946652	Human		name
405746485	CV3368572	single nucleotide variant	NM_005022.4(PFN1):c.352G>A (p.Gly118Ser)	Inborn genetic diseases [RCV004498470]	uncertain significance	17	4945971	4945971	Human	1	name
597714127	CV3575855	single nucleotide variant	NM_005022.4(PFN1):c.415C>G (p.Gln139Glu)	Inborn genetic diseases [RCV004959499]	uncertain significance	17	4945908	4945908	Human	1	name
12738954	CV361020	single nucleotide variant	NM_005022.4(PFN1):c.341T>G (p.Met114Arg)	Lower limb muscle weakness [RCV000415115]	likely pathogenic	17	4945982	4945982	Human	1	name
597934481	CV3858792	single nucleotide variant	NM_005022.4(PFN1):c.302T>C (p.Val101Ala)	not provided [RCV005207262]	uncertain significance	17	4946651	4946651	Human		name
8603099	CV45721	single nucleotide variant	NM_005022.4(PFN1):c.341T>C (p.Met114Thr)	Amyotrophic lateral sclerosis type 18 [RCV000030695]\|PFN1-related disorder [RCV004755752]\|not provided [RCV001852610]	pathogenic	17	4945982	4945982	Human	1	name , trait , alternate_id
8603100	CV45722	single nucleotide variant	NM_005022.4(PFN1):c.353G>T (p.Gly118Val)	Amyotrophic lateral sclerosis type 18 [RCV000030696]\|not provided [RCV005089324]	pathogenic	17	4945970	4945970	Human	1	name
8603101	CV45723	single nucleotide variant	NM_005022.4(PFN1):c.350A>G (p.Glu117Gly)	Amyotrophic lateral sclerosis type 18 [RCV000030697]\|not provided [RCV005243103]\|not specified [RCV002247400]	pathogenic\|benign\|uncertain significance	17	4945973	4945973	Human	1	name
152153406	CV1667635	duplication	NM_005022.4(PFN1):c.318_319dup (p.Asp107fs)	Amyotrophic lateral sclerosis type 18 [RCV002471256]\|Neurodegeneration [RCV002221386]	likely pathogenic	17	4946633	4946634	Human	3	name
14702600	CV646164	microsatellite	NM_005022.4(PFN1):c.347AAG[1] (p.Glu117del)	not provided [RCV000807033]	uncertain significance	17	4945971	4945973	Human		name
151741943	CV1425467	indel	NM_005022.4(PFN1):c.73_74delinsCT (p.Tyr25Leu)	not provided [RCV001926547]	uncertain significance	17	4948321	4948322	Human		name
14729751	CV646165	indel	NM_005022.4(PFN1):c.350_351delinsGT (p.Glu117Gly)	not provided [RCV000800637]\|not specified [RCV001815012]	conflicting interpretations of pathogenicity\|uncertain significance	17	4945972	4945973	Human		name

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