Srebf1 Variant Search Result - Rat Genome Database

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142 records found for search term Srebf1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405706015	CV3224775	single nucleotide variant	NM_004176.5(SREBF1):c.91+1G>C	Hereditary mucoepithelial dysplasia [RCV003990155]	likely pathogenic	17	17836726	17836726	Human	1	name
15119065	CV779798	single nucleotide variant	NM_004176.5(SREBF1):c.3215-10G>A	not provided [RCV000962486]	benign	17	17812861	17812861	Human		name
405778690	CV3330502	single nucleotide variant	NM_004176.5(SREBF1):c.90A>T (p.Glu30Asp)	Inborn genetic diseases [RCV004458270]	uncertain significance	17	17836728	17836728	Human	1	name
598178481	CV4008447	single nucleotide variant	NM_004176.5(SREBF1):c.41C>A (p.Ala14Glu)	Hereditary mucoepithelial dysplasia [RCV005393966]	uncertain significance	17	17836777	17836777	Human	1	name
150442829	CV1232484	single nucleotide variant	NM_004176.5(SREBF1):c.1666T>C (p.Leu556=)	not provided [RCV001645452]	benign	17	17817077	17817077	Human		name
156034398	CV2256681	single nucleotide variant	NM_004176.5(SREBF1):c.278C>T (p.Ala93Val)	Inborn genetic diseases [RCV002821289]	uncertain significance	17	17820335	17820335	Human	1	name
156273855	CV2283921	single nucleotide variant	NM_004176.5(SREBF1):c.237G>T (p.Leu79Phe)	Inborn genetic diseases [RCV002832477]	uncertain significance	17	17820376	17820376	Human	1	name
156146181	CV2311070	single nucleotide variant	NM_004176.5(SREBF1):c.290T>C (p.Leu97Pro)	Inborn genetic diseases [RCV002915102]	uncertain significance	17	17820323	17820323	Human	1	name
156131520	CV2372856	single nucleotide variant	NM_004176.5(SREBF1):c.161G>A (p.Ser54Asn)	Inborn genetic diseases [RCV002708500]	uncertain significance	17	17820452	17820452	Human	1	name
329353889	CV2439919	single nucleotide variant	NM_004176.5(SREBF1):c.170G>A (p.Gly57Glu)	Inborn genetic diseases [RCV003201682]	uncertain significance	17	17820443	17820443	Human	1	name
401727497	CV2678353	single nucleotide variant	NM_004176.5(SREBF1):c.193G>A (p.Asp65Asn)	Inborn genetic diseases [RCV003270107]	uncertain significance	17	17820420	17820420	Human	1	name
401914102	CV2811109	single nucleotide variant	NM_004176.5(SREBF1):c.2031C>T (p.His677=)	not provided [RCV003428171]	likely benign	17	17816473	17816473	Human		name
405778613	CV3330489	single nucleotide variant	NM_004176.5(SREBF1):c.194A>T (p.Asp65Val)	Inborn genetic diseases [RCV004458257]	uncertain significance	17	17820419	17820419	Human	1	name
407453565	CV3416347	single nucleotide variant	NM_004176.5(SREBF1):c.1734C>T (p.Pro578=)	not provided [RCV004597605]	likely benign	17	17817009	17817009	Human		name
597732648	CV3604408	single nucleotide variant	NM_004176.5(SREBF1):c.241T>A (p.Ser81Thr)	Inborn genetic diseases [RCV004964269]	uncertain significance	17	17820372	17820372	Human	1	name
597732653	CV3604409	single nucleotide variant	NM_004176.5(SREBF1):c.242C>A (p.Ser81Tyr)	Inborn genetic diseases [RCV004964270]	uncertain significance	17	17820371	17820371	Human	1	name
598178456	CV4008443	single nucleotide variant	NM_004176.5(SREBF1):c.265G>A (p.Gly89Arg)	Hereditary mucoepithelial dysplasia [RCV005393962]	uncertain significance	17	17820348	17820348	Human	1	name
15108342	CV755665	single nucleotide variant	NM_004176.5(SREBF1):c.2710C>T (p.Leu904=)	not provided [RCV000916124]	likely benign	17	17814640	17814640	Human		name
15134055	CV755667	single nucleotide variant	NM_004176.5(SREBF1):c.1089G>A (p.Leu363=)	not provided [RCV000920621]	likely benign	17	17818354	17818354	Human		name
15136459	CV771294	single nucleotide variant	NM_004176.5(SREBF1):c.1824C>T (p.Ala608=)	not provided [RCV000943081]	likely benign	17	17816680	17816680	Human		name
152980007	CV1678344	single nucleotide variant	NM_004176.5(SREBF1):c.677C>T (p.Thr226Met)	not specified [RCV002246849]	benign	17	17819572	17819572	Human		name
152980009	CV1678345	single nucleotide variant	NM_004176.5(SREBF1):c.332C>T (p.Pro111Leu)	not provided [RCV004710439]\|not specified [RCV002246850]	benign\|conflicting interpretations of pathogenicity	17	17820281	17820281	Human		name
156300695	CV2248859	single nucleotide variant	NM_004176.5(SREBF1):c.725C>A (p.Pro242His)	Inborn genetic diseases [RCV002808077]	uncertain significance	17	17819441	17819441	Human	1	name
155996364	CV2250448	single nucleotide variant	NM_004176.5(SREBF1):c.516C>G (p.Phe172Leu)	Inborn genetic diseases [RCV002794126]	uncertain significance	17	17820097	17820097	Human	1	name
156167135	CV2315282	single nucleotide variant	NM_004176.5(SREBF1):c.596T>G (p.Val199Gly)	Inborn genetic diseases [RCV002916347]	uncertain significance	17	17819653	17819653	Human	1	name
155903782	CV2353669	single nucleotide variant	NM_004176.5(SREBF1):c.835G>A (p.Gly279Arg)	Hereditary mucoepithelial dysplasia [RCV005399209]\|Inborn genetic diseases [RCV002990168]	uncertain significance	17	17819331	17819331	Human	2	name
155957339	CV2387466	single nucleotide variant	NM_004176.5(SREBF1):c.538A>C (p.Asn180His)	Inborn genetic diseases [RCV002753656]	uncertain significance	17	17819711	17819711	Human	1	name
329374448	CV2434819	single nucleotide variant	NM_004176.5(SREBF1):c.457G>A (p.Ala153Thr)	Hereditary mucoepithelial dysplasia [RCV005399280]\|Inborn genetic diseases [RCV003173444]	likely benign\|uncertain significance	17	17820156	17820156	Human	2	name
329374494	CV2434836	single nucleotide variant	NM_004176.5(SREBF1):c.499A>G (p.Ser167Gly)	Inborn genetic diseases [RCV003173461]	uncertain significance	17	17820114	17820114	Human	1	name
329952184	CV2671606	single nucleotide variant	NM_004176.5(SREBF1):c.545A>G (p.Gln182Arg)	not provided [RCV003237002]	uncertain significance	17	17819704	17819704	Human		name
401783030	CV2716095	single nucleotide variant	NM_004176.5(SREBF1):c.464C>T (p.Pro155Leu)	Inborn genetic diseases [RCV003309279]	uncertain significance	17	17820149	17820149	Human	1	name
401753098	CV2725180	single nucleotide variant	NM_004176.5(SREBF1):c.682A>G (p.Thr228Ala)	Inborn genetic diseases [RCV003277580]	uncertain significance	17	17819567	17819567	Human	1	name
405778683	CV3330501	single nucleotide variant	NM_004176.5(SREBF1):c.425G>A (p.Gly142Glu)	Inborn genetic diseases [RCV004458269]	uncertain significance	17	17820188	17820188	Human	1	name
407525888	CV3474729	single nucleotide variant	NM_004176.5(SREBF1):c.344C>T (p.Ala115Val)	Inborn genetic diseases [RCV004679462]	uncertain significance	17	17820269	17820269	Human	1	name
407516457	CV3474731	single nucleotide variant	NM_004176.5(SREBF1):c.496C>T (p.Pro166Ser)	Inborn genetic diseases [RCV004675325]	uncertain significance	17	17820117	17820117	Human	1	name
407516460	CV3474734	single nucleotide variant	NM_004176.5(SREBF1):c.383C>G (p.Pro128Arg)	Inborn genetic diseases [RCV004675326]	uncertain significance	17	17820230	17820230	Human	1	name
597732687	CV3604413	single nucleotide variant	NM_004176.5(SREBF1):c.415C>T (p.Pro139Ser)	Inborn genetic diseases [RCV004964274]	uncertain significance	17	17820198	17820198	Human	1	name
597632692	CV3604420	single nucleotide variant	NM_004176.5(SREBF1):c.539A>G (p.Asn180Ser)	Inborn genetic diseases [RCV004968905]	likely benign	17	17819710	17819710	Human	1	name
597632695	CV3604421	single nucleotide variant	NM_004176.5(SREBF1):c.324G>C (p.Lys108Asn)	Inborn genetic diseases [RCV004968906]	uncertain significance	17	17820289	17820289	Human	1	name
597632704	CV3604424	single nucleotide variant	NM_004176.5(SREBF1):c.620G>A (p.Ser207Asn)	Inborn genetic diseases [RCV004968909]	uncertain significance	17	17819629	17819629	Human	1	name
598273474	CV3912059	single nucleotide variant	NM_004176.5(SREBF1):c.437C>T (p.Pro146Leu)	Inborn genetic diseases [RCV005282939]	uncertain significance	17	17820176	17820176	Human	1	name
598178488	CV4008448	single nucleotide variant	NM_004176.5(SREBF1):c.991A>G (p.Ile331Val)	Hereditary mucoepithelial dysplasia [RCV005393967]	uncertain significance	17	17819090	17819090	Human	1	name
15173703	CV703997	single nucleotide variant	NM_004176.5(SREBF1):c.590C>T (p.Pro197Leu)	not provided [RCV000950259]	benign\|likely benign	17	17819659	17819659	Human		name
15194139	CV727032	single nucleotide variant	NM_004176.5(SREBF1):c.892G>A (p.Val298Ile)	not provided [RCV000889140]	benign	17	17819189	17819189	Human		name
8627930	CV83074	single nucleotide variant	NM_001005291.2(SREBF1):c.261G>A (p.Gly87=)	Malignant melanoma [RCV000063154]	not provided	17	17820442	17820442	Human		name
156405603	CV1919412	single nucleotide variant	NM_004176.5(SREBF1):c.1289C>A (p.Ser430Ter)	not provided [RCV002585685]	uncertain significance	17	17817811	17817811	Human		name
156326664	CV2217108	single nucleotide variant	NM_004176.5(SREBF1):c.2587A>G (p.Met863Val)	Inborn genetic diseases [RCV002672807]	uncertain significance	17	17814850	17814850	Human	1	name
155916767	CV2239833	single nucleotide variant	NM_004176.5(SREBF1):c.2322T>A (p.Asp774Glu)	Inborn genetic diseases [RCV002772409]	uncertain significance	17	17815921	17815921	Human	1	name
155923761	CV2248601	single nucleotide variant	NM_004176.5(SREBF1):c.1015A>G (p.Ile339Val)	Inborn genetic diseases [RCV002773357]	uncertain significance	17	17819066	17819066	Human	1	name
156299947	CV2306903	single nucleotide variant	NM_004176.5(SREBF1):c.1424C>T (p.Pro475Leu)	Inborn genetic diseases [RCV002897852]	uncertain significance	17	17817438	17817438	Human	1	name
156095735	CV2310128	single nucleotide variant	NM_004176.5(SREBF1):c.2684A>G (p.Glu895Gly)	Inborn genetic diseases [RCV002888309]	uncertain significance	17	17814666	17814666	Human	1	name
156162605	CV2311832	single nucleotide variant	NM_004176.5(SREBF1):c.1420C>T (p.Arg474Trp)	Inborn genetic diseases [RCV002916084]	uncertain significance	17	17817442	17817442	Human	1	name
156348064	CV2312575	single nucleotide variant	NM_004176.5(SREBF1):c.2686C>T (p.Arg896Trp)	Inborn genetic diseases [RCV002939441]	uncertain significance	17	17814664	17814664	Human	1	name
156395755	CV2325911	single nucleotide variant	NM_004176.5(SREBF1):c.1921G>A (p.Val641Met)	Inborn genetic diseases [RCV002944680]	uncertain significance	17	17816583	17816583	Human	1	name
155979481	CV2340053	single nucleotide variant	NM_004176.5(SREBF1):c.1942C>T (p.Arg648Trp)	Inborn genetic diseases [RCV002973706]	uncertain significance	17	17816562	17816562	Human	1	name
156064917	CV2348686	single nucleotide variant	NM_004176.5(SREBF1):c.2215C>T (p.Arg739Cys)	Inborn genetic diseases [RCV002978576]	uncertain significance	17	17816028	17816028	Human	1	name
156192691	CV2350426	single nucleotide variant	NM_004176.5(SREBF1):c.2417G>A (p.Arg806Gln)	Inborn genetic diseases [RCV002984707]	uncertain significance	17	17815296	17815296	Human	1	name
156197695	CV2362725	single nucleotide variant	NM_004176.5(SREBF1):c.1319C>G (p.Pro440Arg)	Inborn genetic diseases [RCV002666276]	uncertain significance	17	17817781	17817781	Human	1	name
155990538	CV2374758	single nucleotide variant	NM_004176.5(SREBF1):c.1585G>A (p.Val529Met)	Inborn genetic diseases [RCV002733269]	likely benign	17	17817277	17817277	Human	1	name
156132787	CV2382830	single nucleotide variant	NM_004176.5(SREBF1):c.1970C>T (p.Ala657Val)	Inborn genetic diseases [RCV002708575]\|not provided [RCV003883939]	likely benign\|uncertain significance	17	17816534	17816534	Human	1	name
156083691	CV2395031	single nucleotide variant	NM_004176.5(SREBF1):c.2978C>T (p.Pro993Leu)	Inborn genetic diseases [RCV002783883]	uncertain significance	17	17813693	17813693	Human	1	name
329387019	CV2452788	single nucleotide variant	NM_004176.5(SREBF1):c.1351G>A (p.Gly451Ser)	Inborn genetic diseases [RCV003215049]	uncertain significance	17	17817749	17817749	Human	1	name
329387167	CV2463394	single nucleotide variant	NM_004176.5(SREBF1):c.1039A>C (p.Lys347Gln)	Inborn genetic diseases [RCV003215124]\|not provided [RCV004696393]	uncertain significance	17	17819042	17819042	Human	1	name
329355746	CV2477572	single nucleotide variant	NM_004176.5(SREBF1):c.2605G>A (p.Val869Ile)	Inborn genetic diseases [RCV004285598]\|Obesity [RCV003223519]	likely benign\|uncertain significance	17	17814745	17814745	Human	3	name
401738324	CV2676246	single nucleotide variant	NM_004176.5(SREBF1):c.1913G>A (p.Arg638His)	Inborn genetic diseases [RCV003240131]	uncertain significance	17	17816591	17816591	Human	1	name
401734438	CV2688508	single nucleotide variant	NM_004176.5(SREBF1):c.2401G>T (p.Val801Leu)	Inborn genetic diseases [RCV003290775]	uncertain significance	17	17815312	17815312	Human	1	name
401761486	CV2702358	single nucleotide variant	NM_004176.5(SREBF1):c.1421G>A (p.Arg474Gln)	Inborn genetic diseases [RCV003257571]	uncertain significance	17	17817441	17817441	Human	1	name
401721255	CV2709888	single nucleotide variant	NM_004176.5(SREBF1):c.2984C>T (p.Pro995Leu)	Inborn genetic diseases [RCV003267520]	uncertain significance	17	17813687	17813687	Human	1	name
401732211	CV2736682	single nucleotide variant	NM_004176.5(SREBF1):c.2549C>T (p.Ala850Val)	not provided [RCV003313444]	uncertain significance	17	17814888	17814888	Human		name
401882875	CV2775141	single nucleotide variant	NM_004176.5(SREBF1):c.1757G>T (p.Arg586Leu)	Inborn genetic diseases [RCV003350611]	uncertain significance	17	17816986	17816986	Human	1	name
401898173	CV2781030	single nucleotide variant	NM_004176.5(SREBF1):c.1571G>C (p.Ser524Thr)	Inborn genetic diseases [RCV003376325]	uncertain significance	17	17817291	17817291	Human	1	name
401902818	CV2799638	single nucleotide variant	NM_004176.5(SREBF1):c.1916T>A (p.Leu639His)	Inborn genetic diseases [RCV004963647]\|SREBF1-related disorder [RCV003419072]	uncertain significance	17	17816588	17816588	Human	2	name , trait , alternate_id
401903896	CV2811107	single nucleotide variant	NM_004176.5(SREBF1):c.2960A>G (p.Gln987Arg)	not provided [RCV003419673]	benign	17	17813711	17813711	Human		name
401935701	CV2811110	single nucleotide variant	NM_004176.5(SREBF1):c.1473C>G (p.Cys491Trp)	not provided [RCV003413161]	uncertain significance	17	17817389	17817389	Human		name
405778581	CV3330484	single nucleotide variant	NM_004176.5(SREBF1):c.1208C>G (p.Ala403Gly)	Inborn genetic diseases [RCV004458252]	uncertain significance	17	17817892	17817892	Human	1	name
405778586	CV3330485	single nucleotide variant	NM_004176.5(SREBF1):c.1225A>G (p.Asn409Asp)	Inborn genetic diseases [RCV004458253]	uncertain significance	17	17817875	17817875	Human	1	name
405778593	CV3330486	single nucleotide variant	NM_004176.5(SREBF1):c.1348A>G (p.Ser450Gly)	Inborn genetic diseases [RCV004458254]	uncertain significance	17	17817752	17817752	Human	1	name
405778600	CV3330487	single nucleotide variant	NM_004176.5(SREBF1):c.1453C>T (p.Arg485Cys)	Inborn genetic diseases [RCV004458255]	uncertain significance	17	17817409	17817409	Human	1	name
405778606	CV3330488	single nucleotide variant	NM_004176.5(SREBF1):c.1675G>A (p.Val559Ile)	Inborn genetic diseases [RCV004458256]	uncertain significance	17	17817068	17817068	Human	1	name
405778619	CV3330490	single nucleotide variant	NM_004176.5(SREBF1):c.2128G>A (p.Val710Met)	Inborn genetic diseases [RCV004458258]	uncertain significance	17	17816293	17816293	Human	1	name
405778627	CV3330491	single nucleotide variant	NM_004176.5(SREBF1):c.2162C>T (p.Ala721Val)	Inborn genetic diseases [RCV004458259]	uncertain significance	17	17816259	17816259	Human	1	name
405778633	CV3330492	single nucleotide variant	NM_004176.5(SREBF1):c.2197G>T (p.Ala733Ser)	Inborn genetic diseases [RCV004458260]	uncertain significance	17	17816224	17816224	Human	1	name
405778639	CV3330493	single nucleotide variant	NM_004176.5(SREBF1):c.2287C>T (p.Leu763Phe)	Inborn genetic diseases [RCV004458261]	uncertain significance	17	17815956	17815956	Human	1	name
405778644	CV3330494	single nucleotide variant	NM_004176.5(SREBF1):c.2557C>T (p.Pro853Ser)	Inborn genetic diseases [RCV004458262]	uncertain significance	17	17814880	17814880	Human	1	name
405778650	CV3330495	single nucleotide variant	NM_004176.5(SREBF1):c.2596A>G (p.Thr866Ala)	Inborn genetic diseases [RCV004458263]	uncertain significance	17	17814841	17814841	Human	1	name
405778656	CV3330496	single nucleotide variant	NM_004176.5(SREBF1):c.2845A>G (p.Ser949Gly)	Inborn genetic diseases [RCV004458264]	uncertain significance	17	17814301	17814301	Human	1	name
405778662	CV3330497	single nucleotide variant	NM_004176.5(SREBF1):c.2875A>C (p.Thr959Pro)	Inborn genetic diseases [RCV004458265]	uncertain significance	17	17814271	17814271	Human	1	name
407525890	CV3474730	single nucleotide variant	NM_004176.5(SREBF1):c.2350T>C (p.Trp784Arg)	Inborn genetic diseases [RCV004679463]	likely benign	17	17815893	17815893	Human	1	name
407525892	CV3474732	single nucleotide variant	NM_004176.5(SREBF1):c.1828C>T (p.Arg610Trp)	Inborn genetic diseases [RCV004679464]	uncertain significance	17	17816676	17816676	Human	1	name
407525894	CV3474733	single nucleotide variant	NM_004176.5(SREBF1):c.2771A>T (p.Lys924Met)	Inborn genetic diseases [RCV004679465]	uncertain significance	17	17814375	17814375	Human	1	name
407516466	CV3474736	single nucleotide variant	NM_004176.5(SREBF1):c.1436G>C (p.Ser479Thr)	Inborn genetic diseases [RCV004675328]	uncertain significance	17	17817426	17817426	Human	1	name
596948014	CV3547606	single nucleotide variant	NM_004176.5(SREBF1):c.1959G>C (p.Gln653His)	not provided [RCV004811911]	uncertain significance	17	17816545	17816545	Human		name
596948015	CV3547607	single nucleotide variant	NM_004176.5(SREBF1):c.1958A>C (p.Gln653Pro)	not provided [RCV004811912]	uncertain significance	17	17816546	17816546	Human		name
597732641	CV3604407	single nucleotide variant	NM_004176.5(SREBF1):c.2996G>A (p.Gly999Asp)	Inborn genetic diseases [RCV004964268]	uncertain significance	17	17813675	17813675	Human	1	name
597732662	CV3604410	single nucleotide variant	NM_004176.5(SREBF1):c.2335G>A (p.Val779Met)	Inborn genetic diseases [RCV004964271]	uncertain significance	17	17815908	17815908	Human	1	name
597732672	CV3604411	single nucleotide variant	NM_004176.5(SREBF1):c.1438C>T (p.Arg480Trp)	Inborn genetic diseases [RCV004964272]	uncertain significance	17	17817424	17817424	Human	1	name
597732678	CV3604412	single nucleotide variant	NM_004176.5(SREBF1):c.1439G>A (p.Arg480Gln)	Inborn genetic diseases [RCV004964273]	uncertain significance	17	17817423	17817423	Human	1	name
597732694	CV3604414	single nucleotide variant	NM_004176.5(SREBF1):c.1518G>C (p.Leu506Phe)	Inborn genetic diseases [RCV004964275]	uncertain significance	17	17817344	17817344	Human	1	name
597732708	CV3604416	single nucleotide variant	NM_004176.5(SREBF1):c.2194C>T (p.Arg732Trp)	Inborn genetic diseases [RCV004964277]	uncertain significance	17	17816227	17816227	Human	1	name
597732714	CV3604417	single nucleotide variant	NM_004176.5(SREBF1):c.1001G>A (p.Arg334His)	Inborn genetic diseases [RCV004964278]	uncertain significance	17	17819080	17819080	Human	1	name
597732721	CV3604418	single nucleotide variant	NM_004176.5(SREBF1):c.1499G>C (p.Cys500Ser)	Inborn genetic diseases [RCV004964279]	uncertain significance	17	17817363	17817363	Human	1	name
597632689	CV3604419	single nucleotide variant	NM_004176.5(SREBF1):c.1898G>A (p.Arg633His)	Inborn genetic diseases [RCV004968904]	uncertain significance	17	17816606	17816606	Human	1	name
597632698	CV3604422	single nucleotide variant	NM_004176.5(SREBF1):c.2515T>C (p.Tyr839His)	Inborn genetic diseases [RCV004968907]	uncertain significance	17	17814922	17814922	Human	1	name
597632700	CV3604423	single nucleotide variant	NM_004176.5(SREBF1):c.1999C>G (p.Arg667Gly)	Inborn genetic diseases [RCV004968908]	uncertain significance	17	17816505	17816505	Human	1	name
598273464	CV3912055	single nucleotide variant	NM_004176.5(SREBF1):c.1943G>A (p.Arg648Gln)	Inborn genetic diseases [RCV005282935]	uncertain significance	17	17816561	17816561	Human	1	name
598273467	CV3912056	single nucleotide variant	NM_004176.5(SREBF1):c.2978C>G (p.Pro993Arg)	Inborn genetic diseases [RCV005282936]	uncertain significance	17	17813693	17813693	Human	1	name
598273481	CV3912062	single nucleotide variant	NM_004176.5(SREBF1):c.1560C>G (p.Ser520Arg)	Inborn genetic diseases [RCV005282942]	uncertain significance	17	17817302	17817302	Human	1	name
598273485	CV3912064	single nucleotide variant	NM_004176.5(SREBF1):c.2678C>A (p.Ala893Glu)	Inborn genetic diseases [RCV005282944]	uncertain significance	17	17814672	17814672	Human	1	name
598273490	CV3912066	single nucleotide variant	NM_004176.5(SREBF1):c.1378G>A (p.Asp460Asn)	Inborn genetic diseases [RCV005282946]	uncertain significance	17	17817722	17817722	Human	1	name
598273493	CV3912067	single nucleotide variant	NM_004176.5(SREBF1):c.1775A>C (p.Asp592Ala)	Inborn genetic diseases [RCV005282947]	uncertain significance	17	17816968	17816968	Human	1	name
598178449	CV4008442	single nucleotide variant	NM_004176.5(SREBF1):c.1122A>C (p.Gln374His)	Hereditary mucoepithelial dysplasia [RCV005393961]	uncertain significance	17	17818321	17818321	Human	1	name
598178463	CV4008444	single nucleotide variant	NM_004176.5(SREBF1):c.2717G>A (p.Arg906Gln)	Hereditary mucoepithelial dysplasia [RCV005393963]	uncertain significance	17	17814633	17814633	Human	1	name
15161997	CV703996	single nucleotide variant	NM_004176.5(SREBF1):c.1249G>A (p.Val417Met)	not provided [RCV000947774]	benign	17	17817851	17817851	Human		name
15148558	CV727031	single nucleotide variant	NM_004176.5(SREBF1):c.2435G>A (p.Arg812Gln)	not provided [RCV000878984]	likely benign	17	17815278	17815278	Human		name
15108699	CV755666	single nucleotide variant	NM_004176.5(SREBF1):c.2681C>T (p.Ala894Val)	not provided [RCV000916191]	likely benign	17	17814669	17814669	Human		name
39457170	CV920547	single nucleotide variant	NM_004176.5(SREBF1):c.1579C>T (p.Arg527Cys)	Hereditary mucoepithelial dysplasia [RCV001260974]\|IFAP syndrome 1, with or without BRESHECK syndrome [RCV001263099]\|IFAP syndrome 2 [RCV001255643]\|not provided [RCV001586039]	pathogenic	17	17817283	17817283	Human	3	name
39457172	CV920549	single nucleotide variant	NM_004176.5(SREBF1):c.1589T>C (p.Leu530Pro)	IFAP syndrome 1, with or without BRESHECK syndrome [RCV001263101]\|IFAP syndrome 2 [RCV001255645]	pathogenic	17	17817273	17817273	Human	2	name
40813818	CV969581	single nucleotide variant	NM_004176.5(SREBF1):c.1580G>A (p.Arg527His)	Hereditary mucoepithelial dysplasia [RCV001260975]\|not provided [RCV001879999]	pathogenic\|likely pathogenic	17	17817282	17817282	Human	1	name
155946641	CV1935668	single nucleotide variant	NM_004176.5(SREBF1):c.3037G>A (p.Gly1013Ser)	not provided [RCV002511418]	uncertain significance	17	17813634	17813634	Human		name
155972530	CV2228204	single nucleotide variant	NM_004176.5(SREBF1):c.3097C>T (p.Arg1033Trp)	Inborn genetic diseases [RCV002731738]	uncertain significance	17	17813574	17813574	Human	1	name
156056350	CV2269718	single nucleotide variant	NM_004176.5(SREBF1):c.3067C>T (p.Arg1023Trp)	Inborn genetic diseases [RCV002822615]	uncertain significance	17	17813604	17813604	Human	1	name
156264893	CV2329481	single nucleotide variant	NM_004176.5(SREBF1):c.3407T>G (p.Met1136Arg)	Inborn genetic diseases [RCV002959978]	uncertain significance	17	17812659	17812659	Human	1	name
156064923	CV2349918	single nucleotide variant	NM_004176.5(SREBF1):c.3187C>T (p.Arg1063Trp)	Inborn genetic diseases [RCV003000401]	uncertain significance	17	17813395	17813395	Human	1	name
156221144	CV2397430	single nucleotide variant	NM_004176.5(SREBF1):c.3209A>G (p.Lys1070Arg)	Inborn genetic diseases [RCV002744740]	uncertain significance	17	17813373	17813373	Human	1	name
401738494	CV2676304	single nucleotide variant	NM_004176.5(SREBF1):c.3253G>A (p.Glu1085Lys)	Inborn genetic diseases [RCV003240189]	uncertain significance	17	17812813	17812813	Human	1	name
401738727	CV2676359	single nucleotide variant	NM_004176.5(SREBF1):c.3227A>G (p.Glu1076Gly)	Inborn genetic diseases [RCV003240244]	uncertain significance	17	17812839	17812839	Human	1	name
401774319	CV2702739	single nucleotide variant	NM_004176.5(SREBF1):c.3202G>A (p.Gly1068Ser)	Inborn genetic diseases [RCV003262508]	uncertain significance	17	17813380	17813380	Human	1	name
401752045	CV2723099	single nucleotide variant	NM_004176.5(SREBF1):c.3085C>T (p.Arg1029Trp)	Inborn genetic diseases [RCV003295705]	uncertain significance	17	17813586	17813586	Human	1	name
405778667	CV3330498	single nucleotide variant	NM_004176.5(SREBF1):c.3034C>A (p.Arg1012Ser)	Inborn genetic diseases [RCV004458266]	uncertain significance	17	17813637	17813637	Human	1	name
405778673	CV3330499	single nucleotide variant	NM_004176.5(SREBF1):c.3137C>T (p.Ala1046Val)	Inborn genetic diseases [RCV004458267]	uncertain significance	17	17813445	17813445	Human	1	name
405778678	CV3330500	single nucleotide variant	NM_004176.5(SREBF1):c.3191G>A (p.Arg1064Gln)	Inborn genetic diseases [RCV004458268]	uncertain significance	17	17813391	17813391	Human	1	name
407516462	CV3474735	single nucleotide variant	NM_004176.5(SREBF1):c.3035G>A (p.Arg1012His)	Inborn genetic diseases [RCV004675327]	uncertain significance	17	17813636	17813636	Human	1	name
597732699	CV3604415	single nucleotide variant	NM_004176.5(SREBF1):c.3028G>C (p.Glu1010Gln)	Inborn genetic diseases [RCV004964276]	uncertain significance	17	17813643	17813643	Human	1	name
598273471	CV3912058	single nucleotide variant	NM_004176.5(SREBF1):c.3377G>A (p.Arg1126Gln)	Inborn genetic diseases [RCV005282938]	uncertain significance	17	17812689	17812689	Human	1	name
598273475	CV3912060	single nucleotide variant	NM_004176.5(SREBF1):c.3005G>A (p.Ser1002Asn)	Inborn genetic diseases [RCV005282940]	uncertain significance	17	17813666	17813666	Human	1	name
598273478	CV3912061	single nucleotide variant	NM_004176.5(SREBF1):c.3217G>A (p.Ala1073Thr)	Inborn genetic diseases [RCV005282941]	uncertain significance	17	17812849	17812849	Human	1	name
598273482	CV3912063	single nucleotide variant	NM_004176.5(SREBF1):c.3374G>A (p.Arg1125His)	Inborn genetic diseases [RCV005282943]	uncertain significance	17	17812692	17812692	Human	1	name
598273487	CV3912065	single nucleotide variant	NM_004176.5(SREBF1):c.3166C>G (p.Leu1056Val)	Inborn genetic diseases [RCV005282945]	uncertain significance	17	17813416	17813416	Human	1	name
598178474	CV4008446	single nucleotide variant	NM_004176.5(SREBF1):c.3322C>T (p.Arg1108Cys)	Hereditary mucoepithelial dysplasia [RCV005393965]	uncertain significance	17	17812744	17812744	Human	1	name
39457171	CV920548	deletion	NM_004176.5(SREBF1):c.1582_1584del (p.Asn528del)	IFAP syndrome 1, with or without BRESHECK syndrome [RCV001263100]\|IFAP syndrome 2 [RCV001255644]	pathogenic	17	17817278	17817280	Human	2	name
401914099	CV2811108	microsatellite	NM_004176.5(SREBF1):c.2214+17_2214+18insGGGGATGGCGGGAGTGGGGAGGGTGGGGGGATTGGGGGTGGGGGGGT	not provided [RCV003428170]	benign	17	17816189	17816190	Human		name
402518131	CV2936436	microsatellite	NM_004176.5(SREBF1):c.2214+17_2214+18insGGGTTGGGGGGATGGCGGGAGTGGGGAGGGTGGGGGGATTGGGGGTGGGGGGGTGGGGCTGGGGGGTGGCAGGGGTGTGGGGTGGCGGGGGTGGGG	not provided [RCV003663002]	benign	17	17816189	17816190	Human		name

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