Srebf2 Variant Search Result - Rat Genome Database

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168 records found for search term Srebf2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405272206	CV3206489	single nucleotide variant	NM_004599.4(SREBF2):c.*6A>G	SREBF2-related disorder [RCV003972080]	likely benign	22	41905666	41905666	Human		name , trait , alternate_id
150501860	CV1241057	single nucleotide variant	NM_004599.4(SREBF2):c.*84A>G	not provided [RCV001656953]	benign	22	41905744	41905744	Human		name
150463941	CV1263879	single nucleotide variant	NM_004599.4(SREBF2):c.*48T>C	not provided [RCV001682580]	benign	22	41905708	41905708	Human		name
405274618	CV3208968	single nucleotide variant	NM_004599.4(SREBF2):c.2606-7C>T	SREBF2-related disorder [RCV003951741]	likely benign	22	41898642	41898642	Human		name , trait , alternate_id
150466435	CV1218189	single nucleotide variant	NM_004599.4(SREBF2):c.3206-10C>T	not provided [RCV001614315]	benign	22	41905430	41905430	Human		name
150492358	CV1225458	single nucleotide variant	NM_004599.4(SREBF2):c.3205+36A>G	not provided [RCV001618973]	benign	22	41905010	41905010	Human		name
150458942	CV1248374	single nucleotide variant	NM_004599.4(SREBF2):c.2377+28T>C	not provided [RCV001669195]	benign	22	41893313	41893313	Human		name
150499472	CV1254364	single nucleotide variant	NM_004599.4(SREBF2):c.1579+37G>A	not provided [RCV001676538]	benign	22	41877458	41877458	Human		name
150478532	CV1271074	single nucleotide variant	NM_004599.4(SREBF2):c.867+157C>T	not provided [RCV001696510]	benign	22	41871192	41871192	Human		name
150454019	CV1276929	single nucleotide variant	NM_004599.4(SREBF2):c.868-174C>T	not provided [RCV001708720]	benign	22	41873624	41873624	Human		name
15167160	CV731430	single nucleotide variant	NM_004599.4(SREBF2):c.2377+10C>G	SREBF2-related disorder [RCV003910414]\|not provided [RCV000882789]	benign\|likely benign	22	41893295	41893295	Human		name , trait , alternate_id
15153468	CV745347	single nucleotide variant	NM_004599.4(SREBF2):c.3206-10C>A	not provided [RCV000901766]	likely benign	22	41905430	41905430	Human		name
150340183	CV1168481	single nucleotide variant	NM_004599.4(SREBF2):c.2495+181C>G	not provided [RCV001535082]	benign	22	41895118	41895118	Human		name
150503145	CV1223394	single nucleotide variant	NM_004599.4(SREBF2):c.2907+201T>C	not provided [RCV001621329]	benign	22	41900699	41900699	Human		name
150508147	CV1229567	single nucleotide variant	NM_004599.4(SREBF2):c.2496-171C>T	not provided [RCV001636145]	benign	22	41896881	41896881	Human		name
150455133	CV1232403	single nucleotide variant	NM_004599.4(SREBF2):c.1580-104A>G	not provided [RCV001648417]	benign	22	41877838	41877838	Human		name
150482386	CV1247447	single nucleotide variant	NM_004599.4(SREBF2):c.3205+155T>C	not provided [RCV001673272]	benign	22	41905129	41905129	Human		name
150483025	CV1247551	single nucleotide variant	NM_004599.4(SREBF2):c.2739-155G>C	not provided [RCV001673377]	benign	22	41900175	41900175	Human		name
150510254	CV1248587	single nucleotide variant	NM_004599.4(SREBF2):c.2739-192G>A	not provided [RCV001659657]	benign	22	41900138	41900138	Human		name
150501590	CV1256337	single nucleotide variant	NM_004599.4(SREBF2):c.2209-127T>G	not provided [RCV001676961]	benign	22	41892990	41892990	Human		name
150461395	CV1264304	single nucleotide variant	NM_004599.4(SREBF2):c.1761+160G>A	not provided [RCV001682221]	benign	22	41878283	41878283	Human		name
150471459	CV1270080	single nucleotide variant	NM_004599.4(SREBF2):c.2377+211G>A	not provided [RCV001695368]	benign	22	41893496	41893496	Human		name
150446978	CV1271953	single nucleotide variant	NM_004599.4(SREBF2):c.2496-133G>A	not provided [RCV001691367]	benign	22	41896919	41896919	Human		name
150477887	CV1272116	single nucleotide variant	NM_004599.4(SREBF2):c.2208+134T>G	not provided [RCV001696402]	benign	22	41885145	41885145	Human		name
150481736	CV1279822	single nucleotide variant	NM_004599.4(SREBF2):c.2377+177T>C	not provided [RCV001714901]	benign	22	41893462	41893462	Human		name
150481921	CV1279863	single nucleotide variant	NM_004599.4(SREBF2):c.2605+113A>G	not provided [RCV001714933]	benign	22	41897274	41897274	Human		name
156204167	CV2314075	single nucleotide variant	NM_004599.4(SREBF2):c.13G>C (p.Gly5Arg)	not specified [RCV004164349]	uncertain significance	22	41833283	41833283	Human		name
15152815	CV717481	single nucleotide variant	NM_004599.4(SREBF2):c.201T>C (p.Ser67=)	not provided [RCV000968425]	benign	22	41866943	41866943	Human		name
405272398	CV3199313	single nucleotide variant	NM_004599.4(SREBF2):c.720G>A (p.Pro240=)	SREBF2-related disorder [RCV003914263]	likely benign	22	41868792	41868792	Human		name , trait , alternate_id
405778790	CV3330520	single nucleotide variant	NM_004599.4(SREBF2):c.58G>C (p.Gly20Arg)	not specified [RCV004458288]	uncertain significance	22	41833328	41833328	Human		name
15203140	CV705964	single nucleotide variant	NM_004599.4(SREBF2):c.699G>A (p.Ala233=)	not provided [RCV000958243]	benign	22	41868771	41868771	Human		name
15148656	CV717482	single nucleotide variant	NM_004599.4(SREBF2):c.366C>A (p.Pro122=)	not provided [RCV000967591]	benign	22	41867108	41867108	Human		name
150478238	CV1218753	single nucleotide variant	NM_004599.4(SREBF2):c.1668G>T (p.Leu556=)	not provided [RCV001616380]	benign	22	41878030	41878030	Human		name
150452148	CV1260353	single nucleotide variant	NM_004599.4(SREBF2):c.2082G>A (p.Ala694=)	not provided [RCV001680843]	benign	22	41884885	41884885	Human		name
155961181	CV2285494	single nucleotide variant	NM_004599.4(SREBF2):c.278C>A (p.Thr93Asn)	not specified [RCV004139343]	uncertain significance	22	41867020	41867020	Human		name
401879014	CV2778086	single nucleotide variant	NM_004599.4(SREBF2):c.149T>C (p.Leu50Pro)	not specified [RCV004348034]	uncertain significance	22	41866891	41866891	Human		name
405267396	CV3205468	single nucleotide variant	NM_004599.4(SREBF2):c.1866C>T (p.Asn622=)	SREBF2-related disorder [RCV003947364]	likely benign	22	41880820	41880820	Human		name , trait , alternate_id
405291971	CV3207766	single nucleotide variant	NM_004599.4(SREBF2):c.2160T>C (p.Ala720=)	SREBF2-related disorder [RCV003929451]	likely benign	22	41884963	41884963	Human		name , trait , alternate_id
405292108	CV3207854	single nucleotide variant	NM_004599.4(SREBF2):c.2421G>A (p.Leu807=)	SREBF2-related disorder [RCV003929530]	likely benign	22	41894863	41894863	Human		name , trait , alternate_id
405277337	CV3210749	single nucleotide variant	NM_004599.4(SREBF2):c.1704G>A (p.Ser568=)	SREBF2-related disorder [RCV003917410]	likely benign	22	41878066	41878066	Human		name , trait , alternate_id
407516471	CV3474739	single nucleotide variant	NM_004599.4(SREBF2):c.115G>A (p.Val39Met)	not specified [RCV004675330]	uncertain significance	22	41866857	41866857	Human		name
408367285	CV3509909	single nucleotide variant	NM_004599.4(SREBF2):c.1521C>T (p.His507=)	SREBF2-related disorder [RCV004758360]	likely benign	22	41877363	41877363	Human		name , trait , alternate_id
598128289	CV3887489	single nucleotide variant	NM_004599.4(SREBF2):c.1083C>T (p.Asp361=)	not provided [RCV005243662]	likely benign	22	41874013	41874013	Human		name
598273500	CV3912071	single nucleotide variant	NM_004599.4(SREBF2):c.216C>A (p.Ser72Arg)	not specified [RCV005282950]	uncertain significance	22	41866958	41866958	Human		name
15161655	CV758117	single nucleotide variant	NM_004599.4(SREBF2):c.2673C>T (p.Asp891=)	not provided [RCV000925729]	likely benign	22	41898716	41898716	Human		name
150448271	CV1275516	single nucleotide variant	NM_004599.4(SREBF2):c.3175C>A (p.Arg1059=)	not provided [RCV001707971]	benign	22	41904944	41904944	Human		name
156324979	CV2195115	single nucleotide variant	NM_004599.4(SREBF2):c.797T>C (p.Met266Thr)	not specified [RCV004078022]	uncertain significance	22	41870965	41870965	Human		name
156175392	CV2205246	single nucleotide variant	NM_004599.4(SREBF2):c.676G>T (p.Ala226Ser)	not specified [RCV004079874]	uncertain significance	22	41868748	41868748	Human		name
156122194	CV2241053	single nucleotide variant	NM_004599.4(SREBF2):c.811A>C (p.Asn271His)	not specified [RCV004104099]	uncertain significance	22	41870979	41870979	Human		name
156338932	CV2271347	single nucleotide variant	NM_004599.4(SREBF2):c.409C>T (p.Pro137Ser)	not specified [RCV004136462]	uncertain significance	22	41867151	41867151	Human		name
155919235	CV2279383	single nucleotide variant	NM_004599.4(SREBF2):c.346G>C (p.Val116Leu)	not specified [RCV004141936]	uncertain significance	22	41867088	41867088	Human		name
156347082	CV2297821	single nucleotide variant	NM_004599.4(SREBF2):c.458C>T (p.Thr153Met)	not specified [RCV004157767]	uncertain significance	22	41867200	41867200	Human		name
155986590	CV2345533	single nucleotide variant	NM_004599.4(SREBF2):c.917T>C (p.Met306Thr)	not specified [RCV004198294]	uncertain significance	22	41873847	41873847	Human		name
156346845	CV2353766	single nucleotide variant	NM_004599.4(SREBF2):c.526A>G (p.Thr176Ala)	not specified [RCV004201774]	uncertain significance	22	41867268	41867268	Human		name
155989088	CV2371897	single nucleotide variant	NM_004599.4(SREBF2):c.826G>A (p.Ala276Thr)	not specified [RCV004221584]	uncertain significance	22	41870994	41870994	Human		name
329397807	CV2464033	single nucleotide variant	NM_004599.4(SREBF2):c.790C>G (p.Pro264Ala)	not specified [RCV004273740]	uncertain significance	22	41870958	41870958	Human		name
405778764	CV3330515	single nucleotide variant	NM_004599.4(SREBF2):c.308C>G (p.Ser103Trp)	not specified [RCV004458283]	uncertain significance	22	41867050	41867050	Human		name
405778796	CV3330521	single nucleotide variant	NM_004599.4(SREBF2):c.916A>G (p.Met306Val)	not specified [RCV004458289]	uncertain significance	22	41873846	41873846	Human		name
408367453	CV3513350	single nucleotide variant	NM_004599.4(SREBF2):c.3189G>A (p.Thr1063=)	SREBF2-related disorder [RCV004758491]	likely benign	22	41904958	41904958	Human		name , trait , alternate_id
597778798	CV3604425	single nucleotide variant	NM_004599.4(SREBF2):c.322C>G (p.Gln108Glu)	not specified [RCV004873378]	uncertain significance	22	41867064	41867064	Human		name
597680374	CV3611341	single nucleotide variant	NM_004599.4(SREBF2):c.688A>G (p.Thr230Ala)	not specified [RCV004857394]	uncertain significance	22	41868760	41868760	Human		name
597778814	CV3611344	single nucleotide variant	NM_004599.4(SREBF2):c.446C>T (p.Thr149Met)	not specified [RCV004873382]	uncertain significance	22	41867188	41867188	Human		name
597778841	CV3611352	single nucleotide variant	NM_004599.4(SREBF2):c.947T>C (p.Val316Ala)	not specified [RCV004873389]	uncertain significance	22	41873877	41873877	Human		name
597778851	CV3611354	single nucleotide variant	NM_004599.4(SREBF2):c.790C>T (p.Pro264Ser)	not specified [RCV004873391]	uncertain significance	22	41870958	41870958	Human		name
597680384	CV3611357	single nucleotide variant	NM_004599.4(SREBF2):c.765G>C (p.Leu255Phe)	not specified [RCV004857396]	uncertain significance	22	41870933	41870933	Human		name
598273512	CV3912076	single nucleotide variant	NM_004599.4(SREBF2):c.308C>T (p.Ser103Leu)	not specified [RCV005282954]	uncertain significance	22	41867050	41867050	Human		name
598273515	CV3912077	single nucleotide variant	NM_004599.4(SREBF2):c.878G>A (p.Gly293Asp)	not specified [RCV005282955]	uncertain significance	22	41873808	41873808	Human		name
598273521	CV3912079	single nucleotide variant	NM_004599.4(SREBF2):c.463A>G (p.Thr155Ala)	not specified [RCV005282957]	uncertain significance	22	41867205	41867205	Human		name
598273524	CV3912080	single nucleotide variant	NM_004599.4(SREBF2):c.802G>A (p.Ala268Thr)	not specified [RCV005282958]	uncertain significance	22	41870970	41870970	Human		name
15160302	CV717484	single nucleotide variant	NM_004599.4(SREBF2):c.3105T>C (p.His1035=)	not provided [RCV000969873]	benign	22	41904874	41904874	Human		name
150480002	CV1221884	single nucleotide variant	NM_004599.4(SREBF2):c.2580G>C (p.Arg860Ser)	not provided [RCV001616680]	benign	22	41897136	41897136	Human		name
150450029	CV1275752	single nucleotide variant	NM_004599.4(SREBF2):c.1784G>C (p.Gly595Ala)	not provided [RCV001708207]	benign	22	41880738	41880738	Human		name
156224934	CV2203009	single nucleotide variant	NM_004599.4(SREBF2):c.2418C>G (p.Asn806Lys)	not specified [RCV004069263]	uncertain significance	22	41894860	41894860	Human		name
155950362	CV2242894	single nucleotide variant	NM_004599.4(SREBF2):c.1228G>A (p.Gly410Ser)	not specified [RCV004107484]	uncertain significance	22	41875566	41875566	Human		name
156085947	CV2244655	single nucleotide variant	NM_004599.4(SREBF2):c.1235T>C (p.Leu412Pro)	not specified [RCV004102367]	uncertain significance	22	41875573	41875573	Human		name
156003104	CV2293424	single nucleotide variant	NM_004599.4(SREBF2):c.1054G>A (p.Glu352Lys)	not specified [RCV004150887]	uncertain significance	22	41873984	41873984	Human		name
156084315	CV2299054	single nucleotide variant	NM_004599.4(SREBF2):c.2617A>G (p.Ile873Val)	not specified [RCV004158570]	likely benign	22	41898660	41898660	Human		name
156154461	CV2303909	single nucleotide variant	NM_004599.4(SREBF2):c.1340A>G (p.Tyr447Cys)	not specified [RCV004168188]	uncertain significance	22	41875678	41875678	Human		name
156146199	CV2311071	single nucleotide variant	NM_004599.4(SREBF2):c.1105G>A (p.Val369Ile)	not specified [RCV004164075]	uncertain significance	22	41875352	41875352	Human		name
156348168	CV2312650	single nucleotide variant	NM_004599.4(SREBF2):c.2713A>G (p.Ile905Val)	not specified [RCV004169385]	likely benign	22	41898756	41898756	Human		name
156281788	CV2317333	single nucleotide variant	NM_004599.4(SREBF2):c.2400C>A (p.His800Gln)	not specified [RCV004178817]	uncertain significance	22	41894842	41894842	Human		name
156267127	CV2329654	single nucleotide variant	NM_004599.4(SREBF2):c.1687G>C (p.Val563Leu)	not specified [RCV004180766]	uncertain significance	22	41878049	41878049	Human		name
156342419	CV2343905	single nucleotide variant	NM_004599.4(SREBF2):c.1834C>T (p.Arg612Cys)	not specified [RCV004193480]	uncertain significance	22	41880788	41880788	Human		name
156175323	CV2346006	single nucleotide variant	NM_004599.4(SREBF2):c.1538C>T (p.Pro513Leu)	not specified [RCV004199038]	uncertain significance	22	41877380	41877380	Human		name
156175339	CV2346007	single nucleotide variant	NM_004599.4(SREBF2):c.2576C>T (p.Ser859Phe)	not specified [RCV004199039]	uncertain significance	22	41897132	41897132	Human		name
155928463	CV2363289	single nucleotide variant	NM_004599.4(SREBF2):c.1240G>A (p.Asp414Asn)	not specified [RCV004213842]	uncertain significance	22	41875578	41875578	Human		name
156052892	CV2363545	single nucleotide variant	NM_004599.4(SREBF2):c.1991G>T (p.Arg664Leu)	not specified [RCV004216113]	uncertain significance	22	41880945	41880945	Human		name
156402174	CV2368110	single nucleotide variant	NM_004599.4(SREBF2):c.2710C>T (p.Arg904Cys)	not specified [RCV004216459]	uncertain significance	22	41898753	41898753	Human		name
155989075	CV2371896	single nucleotide variant	NM_004599.4(SREBF2):c.2068G>A (p.Asp690Asn)	not specified [RCV004221583]	uncertain significance	22	41884871	41884871	Human		name
156266971	CV2372576	single nucleotide variant	NM_004599.4(SREBF2):c.2317C>T (p.Arg773Trp)	not specified [RCV004219368]	uncertain significance	22	41893225	41893225	Human		name
156003585	CV2400898	single nucleotide variant	NM_004599.4(SREBF2):c.2554G>A (p.Gly852Arg)	not specified [RCV004244190]	uncertain significance	22	41897110	41897110	Human		name
329387089	CV2436256	single nucleotide variant	NM_004599.4(SREBF2):c.1936C>T (p.Arg646Trp)	not specified [RCV004251670]	uncertain significance	22	41880890	41880890	Human		name
329376401	CV2438192	single nucleotide variant	NM_004599.4(SREBF2):c.2624G>A (p.Arg875Gln)	not specified [RCV004256962]	uncertain significance	22	41898667	41898667	Human		name
329400329	CV2441513	single nucleotide variant	NM_004599.4(SREBF2):c.2599G>A (p.Ala867Thr)	not specified [RCV004257302]	uncertain significance	22	41897155	41897155	Human		name
329390135	CV2453497	single nucleotide variant	NM_004599.4(SREBF2):c.2609C>T (p.Pro870Leu)	not specified [RCV004269188]	uncertain significance	22	41898652	41898652	Human		name
329395802	CV2473225	single nucleotide variant	NM_004599.4(SREBF2):c.1556G>A (p.Arg519His)	SREBF2-related disorder [RCV004555647]	uncertain significance	22	41877398	41877398	Human		name , trait , alternate_id
401751420	CV2672446	single nucleotide variant	NM_004599.4(SREBF2):c.2597C>T (p.Ser866Phe)	not specified [RCV004285700]	uncertain significance	22	41897153	41897153	Human		name
401733389	CV2685512	single nucleotide variant	NM_004599.4(SREBF2):c.2623C>T (p.Arg875Trp)	not specified [RCV004294532]	uncertain significance	22	41898666	41898666	Human		name
401726212	CV2695607	single nucleotide variant	NM_004599.4(SREBF2):c.2570C>A (p.Pro857Gln)	not specified [RCV004299427]	uncertain significance	22	41897126	41897126	Human		name
401726084	CV2699074	single nucleotide variant	NM_004599.4(SREBF2):c.2504C>T (p.Ser835Phe)	not specified [RCV004303588]	uncertain significance	22	41897060	41897060	Human		name
401771576	CV2711771	single nucleotide variant	NM_004599.4(SREBF2):c.1831T>G (p.Ser611Ala)	not specified [RCV004309421]	uncertain significance	22	41880785	41880785	Human		name
401767770	CV2729898	single nucleotide variant	NM_004599.4(SREBF2):c.2950A>G (p.Thr984Ala)	not specified [RCV004332901]	uncertain significance	22	41903012	41903012	Human		name
401874749	CV2756035	single nucleotide variant	NM_004599.4(SREBF2):c.2609C>G (p.Pro870Arg)	not specified [RCV004338161]	uncertain significance	22	41898652	41898652	Human		name
405258252	CV3208308	single nucleotide variant	NM_004599.4(SREBF2):c.2059G>A (p.Ala687Thr)	SREBF2-related disorder [RCV003941735]	likely benign	22	41884862	41884862	Human		name , trait , alternate_id
405295346	CV3211233	single nucleotide variant	NM_004599.4(SREBF2):c.2704G>C (p.Val902Leu)	SREBF2-related disorder [RCV003937209]	likely benign	22	41898747	41898747	Human		name , trait , alternate_id
405778696	CV3330503	single nucleotide variant	NM_004599.4(SREBF2):c.1004A>G (p.His335Arg)	not specified [RCV004458271]	uncertain significance	22	41873934	41873934	Human		name
405778702	CV3330504	single nucleotide variant	NM_004599.4(SREBF2):c.1072A>T (p.Met358Leu)	not specified [RCV004458272]	uncertain significance	22	41874002	41874002	Human		name
405778709	CV3330505	single nucleotide variant	NM_004599.4(SREBF2):c.1311C>A (p.Asp437Glu)	not specified [RCV004458273]	uncertain significance	22	41875649	41875649	Human		name
405778715	CV3330506	single nucleotide variant	NM_004599.4(SREBF2):c.1454G>A (p.Cys485Tyr)	not specified [RCV004458274]	uncertain significance	22	41877296	41877296	Human		name
405778720	CV3330507	single nucleotide variant	NM_004599.4(SREBF2):c.1843C>A (p.Leu615Met)	not specified [RCV004458275]	uncertain significance	22	41880797	41880797	Human		name
405778727	CV3330508	single nucleotide variant	NM_004599.4(SREBF2):c.1846G>T (p.Ala616Ser)	not specified [RCV004458276]	uncertain significance	22	41880800	41880800	Human		name
405778731	CV3330509	single nucleotide variant	NM_004599.4(SREBF2):c.1931G>A (p.Cys644Tyr)	not specified [RCV004458277]	uncertain significance	22	41880885	41880885	Human		name
405778736	CV3330510	single nucleotide variant	NM_004599.4(SREBF2):c.2111C>T (p.Ala704Val)	not specified [RCV004458278]	uncertain significance	22	41884914	41884914	Human		name
405778741	CV3330511	single nucleotide variant	NM_004599.4(SREBF2):c.2368A>G (p.Arg790Gly)	not specified [RCV004458279]	uncertain significance	22	41893276	41893276	Human		name
407516468	CV3474737	single nucleotide variant	NM_004599.4(SREBF2):c.1832C>G (p.Ser611Cys)	not specified [RCV004675329]	uncertain significance	22	41880786	41880786	Human		name
407525897	CV3474738	single nucleotide variant	NM_004599.4(SREBF2):c.1937G>A (p.Arg646Gln)	not specified [RCV004679466]	uncertain significance	22	41880891	41880891	Human		name
407516474	CV3474740	single nucleotide variant	NM_004599.4(SREBF2):c.1163G>A (p.Arg388His)	not specified [RCV004675331]	uncertain significance	22	41875410	41875410	Human		name
407516478	CV3474741	single nucleotide variant	NM_004599.4(SREBF2):c.2029C>T (p.His677Tyr)	not specified [RCV004675332]	uncertain significance	22	41880983	41880983	Human		name
407516485	CV3474743	single nucleotide variant	NM_004599.4(SREBF2):c.2864G>A (p.Ser955Asn)	not specified [RCV004675334]	uncertain significance	22	41900455	41900455	Human		name
407516489	CV3474744	single nucleotide variant	NM_004599.4(SREBF2):c.2618T>C (p.Ile873Thr)	not specified [RCV004675335]	uncertain significance	22	41898661	41898661	Human		name
407516571	CV3474746	single nucleotide variant	NM_004599.4(SREBF2):c.1237G>T (p.Val413Leu)	not specified [RCV004675337]	uncertain significance	22	41875575	41875575	Human		name
408367289	CV3508550	single nucleotide variant	NM_004599.4(SREBF2):c.2767G>A (p.Ala923Thr)	SREBF2-related disorder [RCV004758324]	uncertain significance	22	41900358	41900358	Human		name , trait , alternate_id
597778807	CV3611342	single nucleotide variant	NM_004599.4(SREBF2):c.2552T>G (p.Val851Gly)	not specified [RCV004873380]	uncertain significance	22	41897108	41897108	Human		name
597680380	CV3611345	single nucleotide variant	NM_004599.4(SREBF2):c.2414A>G (p.Lys805Arg)	not specified [RCV004857395]	uncertain significance	22	41894856	41894856	Human		name
597778822	CV3611347	single nucleotide variant	NM_004599.4(SREBF2):c.2321G>A (p.Ser774Asn)	not specified [RCV004873384]	uncertain significance	22	41893229	41893229	Human		name
597778826	CV3611348	single nucleotide variant	NM_004599.4(SREBF2):c.1533G>T (p.Gln511His)	not specified [RCV004873385]	uncertain significance	22	41877375	41877375	Human		name
597778829	CV3611349	single nucleotide variant	NM_004599.4(SREBF2):c.1133A>G (p.Lys378Arg)	not specified [RCV004873386]	uncertain significance	22	41875380	41875380	Human		name
597778833	CV3611350	single nucleotide variant	NM_004599.4(SREBF2):c.1319C>T (p.Ser440Phe)	not specified [RCV004873387]	uncertain significance	22	41875657	41875657	Human		name
597778846	CV3611353	single nucleotide variant	NM_004599.4(SREBF2):c.1222G>A (p.Asp408Asn)	not specified [RCV004873390]	uncertain significance	22	41875560	41875560	Human		name
597778858	CV3611356	single nucleotide variant	NM_004599.4(SREBF2):c.1787A>G (p.Asn596Ser)	not specified [RCV004873393]	uncertain significance	22	41880741	41880741	Human		name
597778860	CV3611358	single nucleotide variant	NM_004599.4(SREBF2):c.1456G>A (p.Val486Ile)	not specified [RCV004873394]	uncertain significance	22	41877298	41877298	Human		name
597778865	CV3611359	single nucleotide variant	NM_004599.4(SREBF2):c.1781C>T (p.Ala594Val)	not specified [RCV004873395]	uncertain significance	22	41880735	41880735	Human		name
598273498	CV3912069	single nucleotide variant	NM_004599.4(SREBF2):c.2322C>G (p.Ser774Arg)	not specified [RCV005282949]	uncertain significance	22	41893230	41893230	Human		name
598239485	CV3912070	single nucleotide variant	NM_004599.4(SREBF2):c.1517C>T (p.Ala506Val)	not specified [RCV005276025]	uncertain significance	22	41877359	41877359	Human		name
598239490	CV3912073	single nucleotide variant	NM_004599.4(SREBF2):c.1874G>A (p.Arg625His)	not specified [RCV005276026]	uncertain significance	22	41880828	41880828	Human		name
598273509	CV3912075	single nucleotide variant	NM_004599.4(SREBF2):c.1903C>T (p.Arg635Cys)	not specified [RCV005282953]	uncertain significance	22	41880857	41880857	Human		name
598273518	CV3912078	single nucleotide variant	NM_004599.4(SREBF2):c.2647G>A (p.Val883Met)	not specified [RCV005282956]	likely benign	22	41898690	41898690	Human		name
598273527	CV3912081	single nucleotide variant	NM_004599.4(SREBF2):c.1190C>A (p.Ala397Glu)	not specified [RCV005282959]	uncertain significance	22	41875437	41875437	Human		name
598273530	CV3912082	single nucleotide variant	NM_004599.4(SREBF2):c.2303A>G (p.Lys768Arg)	not specified [RCV005282960]	uncertain significance	22	41893211	41893211	Human		name
598273533	CV3912083	single nucleotide variant	NM_004599.4(SREBF2):c.1210C>G (p.Leu404Val)	not specified [RCV005282961]	uncertain significance	22	41875548	41875548	Human		name
598273536	CV3912084	single nucleotide variant	NM_004599.4(SREBF2):c.2290C>A (p.Pro764Thr)	not specified [RCV005282962]	uncertain significance	22	41893198	41893198	Human		name
15191485	CV705965	single nucleotide variant	NM_004599.4(SREBF2):c.1112G>A (p.Arg371Lys)	SREBF2-related disorder [RCV004758105]\|not provided [RCV000954790]	benign\|likely benign	22	41875359	41875359	Human		name , trait , alternate_id
15121337	CV717483	single nucleotide variant	NM_004599.4(SREBF2):c.1867G>A (p.Val623Met)	SREBF2-related disorder [RCV003978393]\|not provided [RCV000962876]	benign	22	41880821	41880821	Human		name , trait , alternate_id
156297880	CV2240901	single nucleotide variant	NM_004599.4(SREBF2):c.3085T>C (p.Tyr1029His)	not specified [RCV004102186]	uncertain significance	22	41903147	41903147	Human		name
156271453	CV2333844	single nucleotide variant	NM_004599.4(SREBF2):c.3238C>T (p.Arg1080Trp)	not specified [RCV004181343]	uncertain significance	22	41905472	41905472	Human		name
156174513	CV2345944	single nucleotide variant	NM_004599.4(SREBF2):c.3166C>A (p.His1056Asn)	not specified [RCV004198980]	uncertain significance	22	41904935	41904935	Human		name
155903696	CV2386586	single nucleotide variant	NM_004599.4(SREBF2):c.3418G>A (p.Ala1140Thr)	not specified [RCV004230936]	uncertain significance	22	41905652	41905652	Human		name
401732590	CV2675131	single nucleotide variant	NM_004599.4(SREBF2):c.3047G>A (p.Gly1016Asp)	not specified [RCV004289911]	uncertain significance	22	41903109	41903109	Human		name
401756257	CV2687057	single nucleotide variant	NM_004599.4(SREBF2):c.3265C>T (p.Arg1089Cys)	not specified [RCV004304378]	uncertain significance	22	41905499	41905499	Human		name
401747784	CV2688519	single nucleotide variant	NM_004599.4(SREBF2):c.3236A>T (p.Glu1079Val)	not specified [RCV004301489]	uncertain significance	22	41905470	41905470	Human		name
401751889	CV2727442	single nucleotide variant	NM_004599.4(SREBF2):c.3265C>A (p.Arg1089Ser)	not specified [RCV004327529]	uncertain significance	22	41905499	41905499	Human		name
401891838	CV2779491	single nucleotide variant	NM_004599.4(SREBF2):c.3055C>T (p.Arg1019Cys)	not specified [RCV004351118]	uncertain significance	22	41903117	41903117	Human		name
405284174	CV3213562	single nucleotide variant	NM_004599.4(SREBF2):c.3239G>A (p.Arg1080Gln)	SREBF2-related disorder [RCV003922136]	benign	22	41905473	41905473	Human		name , trait , alternate_id
405778752	CV3330513	single nucleotide variant	NM_004599.4(SREBF2):c.3037C>T (p.Arg1013Trp)	not specified [RCV004458281]	uncertain significance	22	41903099	41903099	Human		name
405778758	CV3330514	single nucleotide variant	NM_004599.4(SREBF2):c.3050G>A (p.Ser1017Asn)	not specified [RCV004458282]	uncertain significance	22	41903112	41903112	Human		name
405778770	CV3330516	single nucleotide variant	NM_004599.4(SREBF2):c.3211G>A (p.Val1071Met)	not specified [RCV004458284]	uncertain significance	22	41905445	41905445	Human		name
405778780	CV3330518	single nucleotide variant	NM_004599.4(SREBF2):c.3308C>T (p.Ala1103Val)	not specified [RCV004458286]	uncertain significance	22	41905542	41905542	Human		name
405778784	CV3330519	single nucleotide variant	NM_004599.4(SREBF2):c.3397G>A (p.Gly1133Ser)	not specified [RCV004458287]	uncertain significance	22	41905631	41905631	Human		name
407516481	CV3474742	single nucleotide variant	NM_004599.4(SREBF2):c.3182G>C (p.Arg1061Pro)	not specified [RCV004675333]	uncertain significance	22	41904951	41904951	Human		name
407516568	CV3474745	single nucleotide variant	NM_004599.4(SREBF2):c.3106G>A (p.Glu1036Lys)	not specified [RCV004675336]	uncertain significance	22	41904875	41904875	Human		name
597778802	CV3604426	single nucleotide variant	NM_004599.4(SREBF2):c.3362C>T (p.Ser1121Phe)	not specified [RCV004873379]	uncertain significance	22	41905596	41905596	Human		name
597778810	CV3611343	single nucleotide variant	NM_004599.4(SREBF2):c.3115G>A (p.Val1039Met)	not specified [RCV004873381]	uncertain significance	22	41904884	41904884	Human		name
597778818	CV3611346	single nucleotide variant	NM_004599.4(SREBF2):c.3016G>A (p.Ala1006Thr)	not specified [RCV004873383]	uncertain significance	22	41903078	41903078	Human		name
597778837	CV3611351	single nucleotide variant	NM_004599.4(SREBF2):c.3038G>A (p.Arg1013Gln)	not specified [RCV004873388]	uncertain significance	22	41903100	41903100	Human		name
597778853	CV3611355	single nucleotide variant	NM_004599.4(SREBF2):c.3305G>T (p.Arg1102Leu)	not specified [RCV004873392]	uncertain significance	22	41905539	41905539	Human		name
598273504	CV3912072	single nucleotide variant	NM_004599.4(SREBF2):c.3305G>A (p.Arg1102Gln)	not specified [RCV005282951]	uncertain significance	22	41905539	41905539	Human		name
598273506	CV3912074	single nucleotide variant	NM_004599.4(SREBF2):c.3331C>T (p.Arg1111Cys)	not specified [RCV005282952]	uncertain significance	22	41905565	41905565	Human		name
407573541	CV3499346	deletion	NM_004599.4(SREBF2):c.3353_3359del (p.Asp1118fs)	Hypercholesterolemia [RCV004701237]	uncertain significance	22	41905583	41905589	Human	2	name

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