Mmp19 Variant Search Result - Rat Genome Database

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72 records found for search term Mmp19

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
126726709	CV1017655	single nucleotide variant	NM_002429.6(MMP19):c.173+1G>A	Familial cavitary optic disk anomaly [RCV005362140]	pathogenic\|uncertain significance	12	55842352	55842352	Human	1	name
15199585	CV702417	variation	NM_002429.6(MMP19):c.84= (p.Pro28=)	not provided [RCV000957080]	benign	12	55842747	55842747	Human		name
405268265	CV3198888	single nucleotide variant	NM_002429.6(MMP19):c.15G>A (p.Gln5=)	MMP19-related disorder [RCV003912006]	likely benign	12	55842816	55842816	Human		name , trait , alternate_id
150531023	CV1311418	single nucleotide variant	NM_002429.6(MMP19):c.84T>C (p.Pro28=)	Familial cavitary optic disk anomaly [RCV001775526]\|not provided [RCV004709138]	benign	12	55842747	55842747	Human	1	name
126742277	CV1021082	single nucleotide variant	NM_002429.6(MMP19):c.21G>A (p.Trp7Ter)	Cavitary optic disc anomalies [RCV001336463]	pathogenic	12	55842810	55842810	Human		name
407425774	CV3409635	single nucleotide variant	NM_002429.6(MMP19):c.225C>T (p.Ala75=)	not provided [RCV004585567]	likely benign	12	55841185	55841185	Human		name
15200293	CV702418	single nucleotide variant	NM_002429.6(MMP19):c.13C>T (p.Gln5Ter)	Familial cavitary optic disk anomaly [RCV002502979]\|not provided [RCV000957288]	pathogenic\|benign\|likely benign	12	55842818	55842818	Human	1	name
401929499	CV2807071	single nucleotide variant	NM_002429.6(MMP19):c.729G>A (p.Leu243=)	not provided [RCV003390256]	likely benign	12	55839533	55839533	Human		name
598200165	CV3985990	single nucleotide variant	NM_002429.6(MMP19):c.34C>T (p.Leu12Phe)	not specified [RCV005375810]	uncertain significance	12	55842797	55842797	Human		name
598201317	CV4007593	single nucleotide variant	NM_002429.6(MMP19):c.993G>A (p.Glu331=)	Familial cavitary optic disk anomaly [RCV005398425]	uncertain significance	12	55837910	55837910	Human	1	name
405741293	CV3320788	single nucleotide variant	NM_002429.6(MMP19):c.146A>G (p.Lys49Arg)	not specified [RCV004452418]	likely benign	12	55842380	55842380	Human		name
15202386	CV702415	single nucleotide variant	NM_002429.6(MMP19):c.1152C>T (p.Leu384=)	not provided [RCV000957900]	benign	12	55837591	55837591	Human		name
8634788	CV90008	single nucleotide variant	NM_002429.5(MMP19):c.265G>A (p.Asp89Asn)	Malignant melanoma [RCV000070105]	not provided	12	55841145	55841145	Human		name
126742282	CV1021081	single nucleotide variant	NM_002429.6(MMP19):c.939G>A (p.Trp313Ter)	Cavitary optic disc anomalies [RCV001336464]	pathogenic	12	55837964	55837964	Human		name
156279419	CV2206268	single nucleotide variant	NM_002429.6(MMP19):c.671G>A (p.Arg224Gln)	not specified [RCV004078617]	uncertain significance	12	55839591	55839591	Human		name
155926207	CV2208137	single nucleotide variant	NM_002429.6(MMP19):c.556G>A (p.Gly186Ser)	not specified [RCV004086816]	uncertain significance	12	55839706	55839706	Human		name
155918034	CV2283469	single nucleotide variant	NM_002429.6(MMP19):c.830C>T (p.Pro277Leu)	not specified [RCV004139687]	uncertain significance	12	55838671	55838671	Human		name
156281606	CV2317321	single nucleotide variant	NM_002429.6(MMP19):c.743T>C (p.Val248Ala)	not specified [RCV004178806]	uncertain significance	12	55839519	55839519	Human		name
156113895	CV2349159	single nucleotide variant	NM_002429.6(MMP19):c.397T>A (p.Phe133Ile)	not specified [RCV004199119]	uncertain significance	12	55840790	55840790	Human		name
155930834	CV2361268	single nucleotide variant	NM_002429.6(MMP19):c.919T>C (p.Phe307Leu)	not specified [RCV004218486]	uncertain significance	12	55837984	55837984	Human		name
156017181	CV2370057	single nucleotide variant	NM_002429.6(MMP19):c.757G>A (p.Ala253Thr)	not specified [RCV004210952]	uncertain significance	12	55839505	55839505	Human		name
156106572	CV2387084	single nucleotide variant	NM_002429.6(MMP19):c.503A>G (p.Asn168Ser)	Familial cavitary optic disk anomaly [RCV005399238]\|not specified [RCV004226822]	likely benign\|uncertain significance	12	55840684	55840684	Human	1	name
401742601	CV2673825	single nucleotide variant	NM_002429.6(MMP19):c.452C>T (p.Ala151Val)	not specified [RCV004293208]	uncertain significance	12	55840735	55840735	Human		name
401726339	CV2674106	single nucleotide variant	NM_002429.6(MMP19):c.749G>T (p.Gly250Val)	not specified [RCV004295512]	uncertain significance	12	55839513	55839513	Human		name
401775055	CV2696205	single nucleotide variant	NM_002429.6(MMP19):c.778C>A (p.Pro260Thr)	not specified [RCV004310249]	uncertain significance	12	55838723	55838723	Human		name
401720862	CV2702164	single nucleotide variant	NM_002429.6(MMP19):c.623T>A (p.Ile208Asn)	not specified [RCV004314514]	uncertain significance	12	55839639	55839639	Human		name
401718599	CV2704690	single nucleotide variant	NM_002429.6(MMP19):c.539C>T (p.Ala180Val)	not specified [RCV004307297]	uncertain significance	12	55839723	55839723	Human		name
401754276	CV2726900	single nucleotide variant	NM_002429.6(MMP19):c.656G>T (p.Gly219Val)	not specified [RCV004323189]	uncertain significance	12	55839606	55839606	Human		name
401894109	CV2770305	single nucleotide variant	NM_002429.6(MMP19):c.551A>C (p.Glu184Ala)	not specified [RCV004356181]	uncertain significance	12	55839711	55839711	Human		name
405758560	CV3313872	single nucleotide variant	NM_002429.6(MMP19):c.826C>T (p.Pro276Ser)	not specified [RCV004454887]	likely benign	12	55838675	55838675	Human		name
405758659	CV3313891	single nucleotide variant	NM_002429.6(MMP19):c.901C>T (p.Arg301Cys)	not specified [RCV004454906]	uncertain significance	12	55838002	55838002	Human		name
405741902	CV3316987	single nucleotide variant	NM_002429.6(MMP19):c.472T>C (p.Phe158Leu)	not specified [RCV004452507]	uncertain significance	12	55840715	55840715	Human		name
405742118	CV3317021	single nucleotide variant	NM_002429.6(MMP19):c.481C>T (p.Arg161Cys)	not provided [RCV004585102]\|not specified [RCV004452541]	likely benign\|uncertain significance	12	55840706	55840706	Human		name
405743212	CV3317182	single nucleotide variant	NM_002429.6(MMP19):c.580G>A (p.Glu194Lys)	not specified [RCV004452703]	uncertain significance	12	55839682	55839682	Human		name
407495034	CV3457550	single nucleotide variant	NM_002429.6(MMP19):c.457G>C (p.Asp153His)	not specified [RCV004643130]	uncertain significance	12	55840730	55840730	Human		name
597642314	CV3553952	single nucleotide variant	NM_002429.6(MMP19):c.928G>A (p.Asp310Asn)	not specified [RCV004825609]	likely benign	12	55837975	55837975	Human		name
597636843	CV3553954	single nucleotide variant	NM_002429.6(MMP19):c.308G>T (p.Arg103Leu)	not specified [RCV004824611]	uncertain significance	12	55840879	55840879	Human		name
597642326	CV3553955	single nucleotide variant	NM_002429.6(MMP19):c.863C>A (p.Pro288His)	not specified [RCV004825611]	uncertain significance	12	55838638	55838638	Human		name
597642331	CV3553956	single nucleotide variant	NM_002429.6(MMP19):c.359T>C (p.Leu120Pro)	not specified [RCV004825612]	uncertain significance	12	55840828	55840828	Human		name
597636849	CV3553957	single nucleotide variant	NM_002429.6(MMP19):c.491C>T (p.Ser164Leu)	not specified [RCV004824612]	likely benign	12	55840696	55840696	Human		name
597642341	CV3553960	single nucleotide variant	NM_002429.6(MMP19):c.884C>T (p.Ala295Val)	not specified [RCV004825614]	uncertain significance	12	55838617	55838617	Human		name
597642346	CV3553961	single nucleotide variant	NM_002429.6(MMP19):c.685C>T (p.Leu229Phe)	not specified [RCV004825615]	uncertain significance	12	55839577	55839577	Human		name
597642352	CV3553962	single nucleotide variant	NM_002429.6(MMP19):c.406T>G (p.Trp136Gly)	not specified [RCV004825616]	uncertain significance	12	55840781	55840781	Human		name
597637513	CV3553963	single nucleotide variant	NM_002429.6(MMP19):c.583T>C (p.Phe195Leu)	not specified [RCV004824613]	likely benign	12	55839679	55839679	Human		name
598167293	CV3985989	single nucleotide variant	NM_002429.6(MMP19):c.896G>A (p.Gly299Glu)	not specified [RCV005369495]	uncertain significance	12	55838007	55838007	Human		name
598167306	CV3985993	single nucleotide variant	NM_002429.6(MMP19):c.959C>T (p.Pro320Leu)	not specified [RCV005369497]	likely benign	12	55837944	55837944	Human		name
598200177	CV3985994	single nucleotide variant	NM_002429.6(MMP19):c.929A>G (p.Asp310Gly)	not specified [RCV005375812]	uncertain significance	12	55837974	55837974	Human		name
15186551	CV702416	single nucleotide variant	NM_002429.6(MMP19):c.733C>T (p.Pro245Ser)	MMP19-related disorder [RCV003925975]\|not provided [RCV000953317]	benign	12	55839529	55839529	Human	1	name , trait , alternate_id
15157664	CV725190	single nucleotide variant	NM_002429.6(MMP19):c.307C>T (p.Arg103Cys)	not provided [RCV000880861]	benign	12	55840880	55840880	Human		name
156240436	CV2203757	single nucleotide variant	NM_002429.6(MMP19):c.1423C>T (p.Arg475Trp)	not specified [RCV004074400]	uncertain significance	12	55837140	55837140	Human		name
156384585	CV2231127	single nucleotide variant	NM_002429.6(MMP19):c.1255A>G (p.Lys419Glu)	not specified [RCV004094342]	uncertain significance	12	55837308	55837308	Human		name
156192503	CV2356977	single nucleotide variant	NM_002429.6(MMP19):c.1438A>G (p.Thr480Ala)	not specified [RCV004204344]	uncertain significance	12	55837125	55837125	Human		name
156254323	CV2366446	single nucleotide variant	NM_002429.6(MMP19):c.1348C>T (p.Arg450Cys)	not specified [RCV004212489]	uncertain significance	12	55837215	55837215	Human		name
329367791	CV2427561	single nucleotide variant	NM_002429.6(MMP19):c.1417C>T (p.Arg473Cys)	not specified [RCV004250197]	uncertain significance	12	55837146	55837146	Human		name
329355529	CV2434286	single nucleotide variant	NM_002429.6(MMP19):c.1417C>G (p.Arg473Gly)	not specified [RCV004251959]	uncertain significance	12	55837146	55837146	Human		name
401763949	CV2725372	single nucleotide variant	NM_002429.6(MMP19):c.1324T>A (p.Phe442Ile)	not specified [RCV004320019]	uncertain significance	12	55837239	55837239	Human		name
405723338	CV3320553	single nucleotide variant	NM_002429.6(MMP19):c.1028C>T (p.Ser343Leu)	not specified [RCV004450114]	uncertain significance	12	55837875	55837875	Human		name
405725096	CV3320769	single nucleotide variant	NM_002429.6(MMP19):c.1439C>A (p.Thr480Asn)	not specified [RCV004450330]	uncertain significance	12	55837124	55837124	Human		name
407495030	CV3457549	single nucleotide variant	NM_002429.6(MMP19):c.1501G>A (p.Ala501Thr)	not specified [RCV004643129]	uncertain significance	12	55837062	55837062	Human		name
407495039	CV3457551	single nucleotide variant	NM_002429.6(MMP19):c.1138C>G (p.Leu380Val)	not specified [RCV004643131]	uncertain significance	12	55837605	55837605	Human		name
407495043	CV3457552	single nucleotide variant	NM_002429.6(MMP19):c.1139T>C (p.Leu380Pro)	not specified [RCV004643132]	uncertain significance	12	55837604	55837604	Human		name
407495050	CV3457553	single nucleotide variant	NM_002429.6(MMP19):c.1160C>T (p.Pro387Leu)	not specified [RCV004643133]	uncertain significance	12	55837583	55837583	Human		name
597642321	CV3553953	single nucleotide variant	NM_002429.6(MMP19):c.1349G>A (p.Arg450His)	not specified [RCV004825610]	uncertain significance	12	55837214	55837214	Human		name
597642337	CV3553959	single nucleotide variant	NM_002429.6(MMP19):c.1424G>A (p.Arg475Gln)	not specified [RCV004825613]	likely benign	12	55837139	55837139	Human		name
597642358	CV3553964	single nucleotide variant	NM_002429.6(MMP19):c.1322A>G (p.Tyr441Cys)	not specified [RCV004825617]	uncertain significance	12	55837241	55837241	Human		name
598167300	CV3985991	single nucleotide variant	NM_002429.6(MMP19):c.1329C>G (p.Phe443Leu)	not specified [RCV005369496]	uncertain significance	12	55837234	55837234	Human		name
598200172	CV3985992	single nucleotide variant	NM_002429.6(MMP19):c.1369G>A (p.Val457Ile)	not specified [RCV005375811]	uncertain significance	12	55837194	55837194	Human		name
598201311	CV4007592	single nucleotide variant	NM_002429.6(MMP19):c.1316G>A (p.Arg439Gln)	Familial cavitary optic disk anomaly [RCV005398424]	uncertain significance	12	55837247	55837247	Human	1	name
13785399	CV550258	single nucleotide variant	NM_002429.6(MMP19):c.1155T>A (p.Tyr385Ter)	Interstitial lung disease 2 [RCV000677220]	uncertain significance	12	55837588	55837588	Human	1	name
15199581	CV702413	single nucleotide variant	NM_002429.6(MMP19):c.1462C>A (p.Pro488Thr)	not provided [RCV000957079]	benign	12	55837101	55837101	Human		name
15185425	CV702414	single nucleotide variant	NM_002429.6(MMP19):c.1367G>A (p.Arg456Gln)	not provided [RCV000952980]	likely benign	12	55837196	55837196	Human		name
15118350	CV738746	single nucleotide variant	NM_002429.6(MMP19):c.1450G>A (p.Gly484Arg)	not provided [RCV000895532]	likely benign	12	55837113	55837113	Human		name

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