Agpat2 Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for All species
(View Results for all Objects and Ontologies)

251 records found for search term Agpat2

Refine Term:

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11648582	CV317544	single nucleotide variant	NM_006412.4(AGPAT2):c.-4G>C	Congenital generalized lipodystrophy type 1 [RCV000282778]	uncertain significance	9	136687361	136687361	Human	1	name , alternate_id
11548119	CV253482	single nucleotide variant	NM_006412.4(AGPAT2):c.*10C>T	not specified [RCV000248668]	likely benign	9	136673742	136673742	Human		name
11663699	CV307690	single nucleotide variant	NM_006412.4(AGPAT2):c.-61G>C	Congenital generalized lipodystrophy type 1 [RCV000398551]	uncertain significance	9	136687418	136687418	Human	1	name , alternate_id
11603266	CV307694	single nucleotide variant	NM_006412.4(AGPAT2):c.-62G>A	Congenital generalized lipodystrophy type 1 [RCV000298125]	uncertain significance	9	136687419	136687419	Human	1	name , alternate_id
11608261	CV307696	single nucleotide variant	NM_006412.4(AGPAT2):c.-67G>C	Congenital generalized lipodystrophy type 1 [RCV000353053]\|not provided [RCV001653755]	benign\|likely benign	9	136687424	136687424	Human	1	name , alternate_id
11610972	CV311924	single nucleotide variant	NM_006412.4(AGPAT2):c.*45C>A	Congenital generalized lipodystrophy type 1 [RCV000388892]	uncertain significance	9	136673707	136673707	Human	1	name , alternate_id
11663124	CV311943	single nucleotide variant	NM_006412.4(AGPAT2):c.-68C>G	Congenital generalized lipodystrophy type 1 [RCV000392835]	uncertain significance	9	136687425	136687425	Human	1	name , alternate_id
11606837	CV318017	single nucleotide variant	NM_006412.4(AGPAT2):c.*79C>G	Congenital generalized lipodystrophy type 1 [RCV000336524]\|not provided [RCV001718791]	benign\|likely benign	9	136673673	136673673	Human	1	name , alternate_id
28887973	CV901558	single nucleotide variant	NM_006412.4(AGPAT2):c.*48T>C	Congenital generalized lipodystrophy type 1 [RCV001169497]\|not provided [RCV004706060]	likely benign	9	136673704	136673704	Human	1	name , alternate_id
28887978	CV901559	single nucleotide variant	NM_006412.4(AGPAT2):c.*34C>G	Congenital generalized lipodystrophy type 1 [RCV001169498]	uncertain significance	9	136673718	136673718	Human	1	name , alternate_id
28874859	CV901570	single nucleotide variant	NM_006412.4(AGPAT2):c.-18C>A	Congenital generalized lipodystrophy type 1 [RCV001165541]	uncertain significance	9	136687375	136687375	Human	1	name , alternate_id
28874862	CV901571	single nucleotide variant	NM_006412.4(AGPAT2):c.-19T>C	Congenital generalized lipodystrophy type 1 [RCV001165542]	uncertain significance	9	136687376	136687376	Human	1	name , alternate_id
11608215	CV307660	single nucleotide variant	NM_006412.4(AGPAT2):c.*535C>T	Congenital generalized lipodystrophy type 1 [RCV000352516]\|not provided [RCV004718621]	benign\|likely benign	9	136673217	136673217	Human	1	name , alternate_id
11600324	CV307661	single nucleotide variant	NM_006412.4(AGPAT2):c.*442C>G	Congenital generalized lipodystrophy type 1 [RCV000272757]\|not provided [RCV004718623]	benign	9	136673310	136673310	Human	1	name , alternate_id
11652752	CV307663	single nucleotide variant	NM_006412.4(AGPAT2):c.*418G>A	Congenital generalized lipodystrophy type 1 [RCV000306946]	uncertain significance	9	136673334	136673334	Human	1	name , alternate_id
11599629	CV307664	single nucleotide variant	NM_006412.4(AGPAT2):c.*239G>A	Congenital generalized lipodystrophy type 1 [RCV000267311]\|not provided [RCV004718624]	benign\|likely benign	9	136673513	136673513	Human	1	name , alternate_id
11645565	CV307676	single nucleotide variant	NM_006412.4(AGPAT2):c.*217G>A	Congenital generalized lipodystrophy type 1 [RCV000266024]	uncertain significance	9	136673535	136673535	Human	1	name , alternate_id
11605392	CV311906	single nucleotide variant	NM_006412.4(AGPAT2):c.*201G>C	Congenital generalized lipodystrophy type 1 [RCV000319061]	uncertain significance	9	136673551	136673551	Human	1	name , alternate_id
11601027	CV311915	single nucleotide variant	NM_006412.4(AGPAT2):c.*157C>T	Congenital generalized lipodystrophy type 1 [RCV000279085]\|not provided [RCV001637005]	benign	9	136673595	136673595	Human	1	name , alternate_id
11660060	CV317485	single nucleotide variant	NM_006412.4(AGPAT2):c.*354C>T	Congenital generalized lipodystrophy type 1 [RCV000363906]\|not provided [RCV004696122]	uncertain significance	9	136673398	136673398	Human	1	name , alternate_id
11610012	CV317488	single nucleotide variant	NM_006412.4(AGPAT2):c.*164C>A	Congenital generalized lipodystrophy type 1 [RCV000375973]	uncertain significance	9	136673588	136673588	Human	1	name , alternate_id
11612311	CV317995	single nucleotide variant	NM_006412.4(AGPAT2):c.*517C>T	Congenital generalized lipodystrophy type 1 [RCV000406791]\|not provided [RCV004718622]	benign	9	136673235	136673235	Human	1	name , alternate_id
11653751	CV317996	single nucleotide variant	NM_006412.4(AGPAT2):c.*514A>C	Congenital generalized lipodystrophy type 1 [RCV000312862]	uncertain significance	9	136673238	136673238	Human	1	name , alternate_id
11609196	CV318011	single nucleotide variant	NM_006412.4(AGPAT2):c.*512G>A	Congenital generalized lipodystrophy type 1 [RCV000365074]	uncertain significance	9	136673240	136673240	Human	1	name , alternate_id
11605858	CV318012	single nucleotide variant	NM_006412.4(AGPAT2):c.*230C>T	Congenital generalized lipodystrophy type 1 [RCV000324871]	likely benign\|uncertain significance	9	136673522	136673522	Human	1	name , alternate_id
28887746	CV901548	single nucleotide variant	NM_006412.4(AGPAT2):c.*572C>T	Congenital generalized lipodystrophy type 1 [RCV001169432]	uncertain significance	9	136673180	136673180	Human	1	name , alternate_id
28877595	CV901549	single nucleotide variant	NM_006412.4(AGPAT2):c.*510C>T	Congenital generalized lipodystrophy type 1 [RCV001166489]	likely benign	9	136673242	136673242	Human	1	name , alternate_id
28877599	CV901550	single nucleotide variant	NM_006412.4(AGPAT2):c.*488C>T	Congenital generalized lipodystrophy type 1 [RCV001166490]	uncertain significance	9	136673264	136673264	Human	1	name , alternate_id
28879345	CV901551	single nucleotide variant	NM_006412.4(AGPAT2):c.*411C>T	Congenital generalized lipodystrophy type 1 [RCV001167015]	uncertain significance	9	136673341	136673341	Human	1	name , alternate_id
28879349	CV901552	single nucleotide variant	NM_006412.4(AGPAT2):c.*382C>T	Congenital generalized lipodystrophy type 1 [RCV001167016]	uncertain significance	9	136673370	136673370	Human	1	name , alternate_id
28879352	CV901553	single nucleotide variant	NM_006412.4(AGPAT2):c.*277C>T	Congenital generalized lipodystrophy type 1 [RCV001167017]	uncertain significance	9	136673475	136673475	Human	1	name , alternate_id
28879357	CV901554	single nucleotide variant	NM_006412.4(AGPAT2):c.*236C>T	Congenital generalized lipodystrophy type 1 [RCV001167018]\|not provided [RCV004707572]	likely benign	9	136673516	136673516	Human	1	name , alternate_id
28879361	CV901555	single nucleotide variant	NM_006412.4(AGPAT2):c.*232C>T	Congenital generalized lipodystrophy type 1 [RCV001167019]	uncertain significance	9	136673520	136673520	Human	1	name , alternate_id
28885276	CV901556	single nucleotide variant	NM_006412.4(AGPAT2):c.*211G>A	Congenital generalized lipodystrophy type 1 [RCV001168727]	uncertain significance	9	136673541	136673541	Human	1	name , alternate_id
28885278	CV901557	single nucleotide variant	NM_006412.4(AGPAT2):c.*102C>T	Congenital generalized lipodystrophy type 1 [RCV001168728]	likely benign	9	136673650	136673650	Human	1	name , alternate_id
8658881	CV133737	single nucleotide variant	NM_006412.4(AGPAT2):c.317-7C>T	Congenital generalized lipodystrophy type 1 [RCV000275200]\|not provided [RCV000947220]\|not specified [RCV000116250]	benign\|likely benign\|conflicting interpretations of pathogenicity	9	136677143	136677143	Human	1	name , alternate_id
155797087	CV1863171	single nucleotide variant	NM_006412.4(AGPAT2):c.493-2A>G	Congenital generalized lipodystrophy type 1 [RCV002470445]	likely pathogenic	9	136676682	136676682	Human	1	name , alternate_id
8559456	CV21664	single nucleotide variant	NM_006412.4(AGPAT2):c.589-2A>G	Congenital generalized lipodystrophy [RCV003488328]\|Congenital generalized lipodystrophy type 1 [RCV000007004]\|not provided [RCV001579685]	pathogenic	9	136674809	136674809	Human	3	name , alternate_id
8559461	CV21669	single nucleotide variant	NM_006412.4(AGPAT2):c.493-1G>C	Congenital generalized lipodystrophy type 1 [RCV000007009]	pathogenic\|likely pathogenic	9	136676681	136676681	Human	1	name , alternate_id
329954155	CV2671942	single nucleotide variant	NM_006412.4(AGPAT2):c.316+1G>T	Congenital generalized lipodystrophy type 1 [RCV003237332]	pathogenic	9	136677422	136677422	Human	1	name , alternate_id
11611089	CV307687	single nucleotide variant	NM_006412.4(AGPAT2):c.662-5C>G	Congenital generalized lipodystrophy type 1 [RCV000390445]\|not provided [RCV004707212]	likely benign\|uncertain significance	9	136673932	136673932	Human	1	name , alternate_id
404999056	CV3173112	single nucleotide variant	NM_006412.4(AGPAT2):c.316+7C>T	not provided [RCV003882395]	likely benign	9	136677416	136677416	Human		name
11610396	CV317524	single nucleotide variant	NM_006412.4(AGPAT2):c.182+8C>T	Congenital generalized lipodystrophy type 1 [RCV000381250]\|not provided [RCV000882452]	benign\|likely benign\|uncertain significance	9	136687168	136687168	Human	1	name , alternate_id
11611235	CV318023	single nucleotide variant	NM_006412.4(AGPAT2):c.493-3C>T	Congenital generalized lipodystrophy [RCV000392297]\|Congenital generalized lipodystrophy type 1 [RCV002488824]	uncertain significance	9	136676683	136676683	Human	3	name , alternate_id
11602492	CV318039	single nucleotide variant	NM_006412.4(AGPAT2):c.182+6G>A	Congenital generalized lipodystrophy type 1 [RCV000291539]\|not provided [RCV000885393]	benign\|likely benign\|uncertain significance	9	136687170	136687170	Human	1	name , alternate_id
407428560	CV3410275	single nucleotide variant	NM_006412.4(AGPAT2):c.661+5C>T	not specified [RCV004587882]	uncertain significance	9	136674730	136674730	Human		name
12741583	CV359012	single nucleotide variant	NM_006412.4(AGPAT2):c.661+2T>G	Congenital generalized lipodystrophy type 1 [RCV000412521]	pathogenic\|not provided	9	136674733	136674733	Human	1	name , alternate_id
12741604	CV359015	single nucleotide variant	NM_006412.4(AGPAT2):c.492+1G>A	Congenital generalized lipodystrophy type 1 [RCV000412609]\|not provided [RCV002274023]	pathogenic\|likely pathogenic\|not provided	9	136676960	136676960	Human	1	name , alternate_id
12741598	CV359018	single nucleotide variant	NM_006412.4(AGPAT2):c.183-2A>G	Congenital generalized lipodystrophy type 1 [RCV000412588]	pathogenic\|not provided	9	136677558	136677558	Human	1	name , alternate_id
12741614	CV359019	single nucleotide variant	NM_006412.4(AGPAT2):c.182+1G>A	Congenital generalized lipodystrophy type 1 [RCV000412655]	pathogenic\|not provided	9	136687175	136687175	Human	1	name , alternate_id
12913611	CV421737	single nucleotide variant	NM_006412.4(AGPAT2):c.662-2A>C	Congenital generalized lipodystrophy type 1 [RCV002506195]\|not provided [RCV000494035]	pathogenic\|likely pathogenic	9	136673929	136673929	Human	1	name , alternate_id
15111889	CV759814	single nucleotide variant	NM_006412.4(AGPAT2):c.661+8C>T	not provided [RCV000916812]	likely benign	9	136674727	136674727	Human		name
28879566	CV903355	single nucleotide variant	NM_006412.4(AGPAT2):c.493-7C>T	Congenital generalized lipodystrophy type 1 [RCV001167075]	uncertain significance	9	136676687	136676687	Human	1	name , alternate_id
150404522	CV1178920	single nucleotide variant	NM_006412.4(AGPAT2):c.183-60G>C	Congenital generalized lipodystrophy type 1 [RCV001548857]\|not provided [RCV001647412]	benign	9	136677616	136677616	Human	1	name , alternate_id
150481519	CV1279768	single nucleotide variant	NM_006412.4(AGPAT2):c.182+99C>G	not provided [RCV001714861]	benign	9	136687077	136687077	Human		name
11542910	CV253483	single nucleotide variant	NM_006412.4(AGPAT2):c.493-17C>A	Congenital generalized lipodystrophy type 1 [RCV002487130]\|not provided [RCV002519928]\|not specified [RCV000241764]	benign\|likely benign	9	136676697	136676697	Human	1	name , alternate_id
405174452	CV3122938	single nucleotide variant	NM_006412.4(AGPAT2):c.493-17C>T	not provided [RCV003819336]	likely benign	9	136676697	136676697	Human		name
11606301	CV318031	single nucleotide variant	NM_006412.4(AGPAT2):c.316+15G>A	Congenital generalized lipodystrophy type 1 [RCV000330045]	uncertain significance	9	136677408	136677408	Human	1	name , alternate_id
597831669	CV3740065	single nucleotide variant	NM_006412.4(AGPAT2):c.589-16G>A	not provided [RCV005062763]	likely benign	9	136674823	136674823	Human		name
597837417	CV3740199	single nucleotide variant	NM_006412.4(AGPAT2):c.182+15C>T	not provided [RCV005064227]	likely benign	9	136687161	136687161	Human		name
597830710	CV3743248	single nucleotide variant	NM_006412.4(AGPAT2):c.589-17C>T	not provided [RCV005062256]	likely benign	9	136674824	136674824	Human		name
150404521	CV1178919	single nucleotide variant	NM_006412.4(AGPAT2):c.661+121T>C	Congenital generalized lipodystrophy type 1 [RCV001548856]\|not provided [RCV001713019]	benign	9	136674614	136674614	Human	2	name , alternate_id
150404521	CV1178919	single nucleotide variant	NM_006412.4(AGPAT2):c.661+121T>C	Congenital generalized lipodystrophy type 1 [RCV001548856]\|not provided [RCV001713019]	benign	9	136674614	136674615	Human	2	name , alternate_id
150499276	CV1235704	single nucleotide variant	NM_006412.4(AGPAT2):c.662-308G>A	not provided [RCV001656387]	benign	9	136674235	136674235	Human		name
11635630	CV307677	duplication	NM_006412.4(AGPAT2):c.212_217dup	Congenital generalized lipodystrophy [RCV000377115]\|not provided [RCV001683449]	benign\|likely benign	9	136673534	136673535	Human	2	name
11607353	CV318040	microsatellite	NM_006412.4(AGPAT2):c.-51GGAGCG[2]	Congenital generalized lipodystrophy [RCV000342411]\|not provided [RCV004696123]	uncertain significance	9	136687391	136687396	Human		name
8559463	CV21671	deletion	NM_006412.4(AGPAT2):c.366_588+534del	Congenital generalized lipodystrophy type 1 [RCV000007011]	pathogenic	9	136676051	136677087	Human	1	name , alternate_id
12741652	CV361197	deletion	NM_006412.4(AGPAT2):c.492+4_492+7del	Congenital generalized lipodystrophy type 1 [RCV000414842]\|not provided [RCV005365266]	likely pathogenic\|uncertain significance	9	136676954	136676957	Human	1	name , alternate_id
156328880	CV1881125	single nucleotide variant	NM_006412.4(AGPAT2):c.21G>A (p.Leu7=)	not provided [RCV003063575]	likely benign	9	136687337	136687337	Human		name
597856713	CV3748083	duplication	NM_006412.4(AGPAT2):c.661+5_661+10dup	not provided [RCV005066905]	likely benign	9	136674724	136674725	Human		name
15156908	CV737032	single nucleotide variant	NM_006412.4(AGPAT2):c.24C>G (p.Ala8=)	Congenital generalized lipodystrophy type 1 [RCV002495456]\|not provided [RCV000902419]	likely benign	9	136687334	136687334	Human	1	name , alternate_id
156408953	CV1954583	microsatellite	NM_006412.4(AGPAT2):c.317-17_317-12del	not provided [RCV002586663]	likely benign	9	136677148	136677153	Human		name
405072791	CV2944308	single nucleotide variant	NM_006412.4(AGPAT2):c.45G>A (p.Leu15=)	not provided [RCV003659471]	likely benign	9	136687313	136687313	Human		name
597714289	CV3726177	single nucleotide variant	NM_006412.4(AGPAT2):c.51G>A (p.Leu17=)	Congenital generalized lipodystrophy type 1 [RCV005049005]	uncertain significance	9	136687307	136687307	Human	1	name , alternate_id
597714310	CV3726180	single nucleotide variant	NM_006412.4(AGPAT2):c.4G>A (p.Glu2Lys)	Congenital generalized lipodystrophy type 1 [RCV005049007]	uncertain significance	9	136687354	136687354	Human	1	name , alternate_id
28888161	CV901569	single nucleotide variant	NM_006412.4(AGPAT2):c.54G>A (p.Val18=)	Congenital generalized lipodystrophy type 1 [RCV001169549]	uncertain significance	9	136687304	136687304	Human	1	name , alternate_id
155796823	CV1860921	single nucleotide variant	NM_006412.4(AGPAT2):c.22G>A (p.Ala8Thr)	Congenital generalized lipodystrophy type 1 [RCV002468521]	uncertain significance	9	136687336	136687336	Human	1	name , alternate_id
156150570	CV1999301	single nucleotide variant	NM_006412.4(AGPAT2):c.16T>C (p.Cys6Arg)	not provided [RCV002663879]	uncertain significance	9	136687342	136687342	Human		name
11606050	CV307689	single nucleotide variant	NM_006412.4(AGPAT2):c.189C>T (p.Ile63=)	Congenital generalized lipodystrophy type 1 [RCV000326364]\|not provided [RCV000909739]\|not specified [RCV001821117]	benign\|likely benign	9	136677550	136677550	Human	1	name , alternate_id
405172443	CV3122764	single nucleotide variant	NM_006412.4(AGPAT2):c.168G>A (p.Thr56=)	not provided [RCV003819162]	likely benign	9	136687190	136687190	Human		name
11602902	CV318032	single nucleotide variant	NM_006412.4(AGPAT2):c.234C>T (p.Phe78=)	Congenital generalized lipodystrophy type 1 [RCV000294844]	uncertain significance	9	136677505	136677505	Human	1	name , alternate_id
597714268	CV3726169	single nucleotide variant	NM_006412.4(AGPAT2):c.228C>T (p.Leu76=)	Congenital generalized lipodystrophy type 1 [RCV005049003]	uncertain significance	9	136677511	136677511	Human	1	name , alternate_id
597688517	CV3726174	single nucleotide variant	NM_006412.4(AGPAT2):c.117G>A (p.Thr39=)	Congenital generalized lipodystrophy type 1 [RCV005046108]	uncertain significance	9	136687241	136687241	Human	1	name , alternate_id
597688537	CV3726178	deletion	NM_006412.4(AGPAT2):c.34del (p.Leu12fs)	Congenital generalized lipodystrophy type 1 [RCV005046110]	likely pathogenic	9	136687324	136687324	Human	1	name , alternate_id
597930709	CV3789371	single nucleotide variant	NM_006412.4(AGPAT2):c.267C>A (p.Ala89=)	not provided [RCV005131652]	likely benign	9	136677472	136677472	Human		name
15176092	CV700900	single nucleotide variant	NM_006412.4(AGPAT2):c.273C>G (p.Pro91=)	Congenital generalized lipodystrophy type 1 [RCV002502921]\|not provided [RCV000950744]	benign\|likely benign	9	136677466	136677466	Human	1	name , alternate_id
28888153	CV901568	single nucleotide variant	NM_006412.4(AGPAT2):c.282C>T (p.Ile94=)	Congenital generalized lipodystrophy type 1 [RCV001169546]\|not provided [RCV005093715]	likely benign\|uncertain significance	9	136677457	136677457	Human	1	name , alternate_id
150544249	CV1313222	deletion	NM_006412.4(AGPAT2):c.158del (p.Gly53fs)	Congenital generalized lipodystrophy type 1 [RCV003990595]	pathogenic\|likely pathogenic	9	136687200	136687200	Human	1	name , alternate_id
8658883	CV133739	single nucleotide variant	NM_006412.4(AGPAT2):c.702C>T (p.Ser234=)	Congenital generalized lipodystrophy type 1 [RCV001167073]\|not provided [RCV002514582]\|not specified [RCV000116252]	benign\|likely benign\|conflicting interpretations of pathogenicity	9	136673887	136673887	Human	1	name , alternate_id
152999493	CV1679851	single nucleotide variant	NM_006412.4(AGPAT2):c.38T>A (p.Leu13Ter)	Congenital generalized lipodystrophy type 1 [RCV002251240]	pathogenic	9	136687320	136687320	Human	1	name , alternate_id
9686963	CV171463	deletion	NM_006412.4(AGPAT2):c.248del (p.Pro83fs)	Prostate cancer [RCV000149182]	uncertain significance	9	136677491	136677491	Human	2	name
156284540	CV1929659	single nucleotide variant	NM_006412.4(AGPAT2):c.729G>A (p.Ala243=)	not provided [RCV002628558]	likely benign	9	136673860	136673860	Human		name
156215416	CV1963263	single nucleotide variant	NM_006412.4(AGPAT2):c.68C>T (p.Ala23Val)	not provided [RCV002575312]	uncertain significance	9	136687290	136687290	Human		name
155908483	CV2017456	single nucleotide variant	NM_006412.4(AGPAT2):c.678G>A (p.Gln226=)	not provided [RCV002681543]	likely benign	9	136673911	136673911	Human		name
156146011	CV2188260	single nucleotide variant	NM_006412.4(AGPAT2):c.50T>G (p.Leu17Arg)	not provided [RCV003056361]	uncertain significance	9	136687308	136687308	Human		name
156350874	CV2189655	single nucleotide variant	NM_006412.4(AGPAT2):c.384C>G (p.Pro128=)	not provided [RCV003048324]	likely benign	9	136677069	136677069	Human		name
11545205	CV253484	single nucleotide variant	NM_006412.4(AGPAT2):c.345C>T (p.Cys115=)	Congenital generalized lipodystrophy type 1 [RCV000319659]\|not provided [RCV000967144]\|not specified [RCV000244821]	benign\|likely benign	9	136677108	136677108	Human	1	name , alternate_id
11632712	CV270183	deletion	NM_006412.4(AGPAT2):c.282del (p.Ile94fs)	not provided [RCV000281033]	pathogenic	9	136677457	136677457	Human		name
405227873	CV2889076	single nucleotide variant	NM_006412.4(AGPAT2):c.621C>T (p.Phe207=)	not provided [RCV003554875]	likely benign	9	136674775	136674775	Human		name
405208115	CV3065335	single nucleotide variant	NM_006412.4(AGPAT2):c.300C>T (p.Ser100=)	not provided [RCV003731604]	likely benign	9	136677439	136677439	Human		name
11607958	CV317498	single nucleotide variant	NM_006412.4(AGPAT2):c.783G>A (p.Lys261=)	Congenital generalized lipodystrophy type 1 [RCV000349526]\|not provided [RCV005055942]	likely benign\|uncertain significance	9	136673806	136673806	Human	1	name , alternate_id
11602447	CV317516	single nucleotide variant	NM_006412.4(AGPAT2):c.732C>T (p.Leu244=)	AGPAT2-related disorder [RCV003922645]\|Congenital generalized lipodystrophy type 1 [RCV000291123]\|not provided [RCV002524594]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	136673857	136673857	Human	1	name , trait , alternate_id
11607476	CV317517	single nucleotide variant	NM_006412.4(AGPAT2):c.720C>T (p.Asp240=)	AGPAT2-related disorder [RCV003957868]\|Congenital generalized lipodystrophy type 1 [RCV000343775]	likely benign\|uncertain significance	9	136673869	136673869	Human	1	name , trait , alternate_id
11603919	CV317518	single nucleotide variant	NM_006412.4(AGPAT2):c.483C>T (p.Val161=)	Congenital generalized lipodystrophy type 1 [RCV000304647]	uncertain significance	9	136676970	136676970	Human	1	name , alternate_id
11644365	CV318024	single nucleotide variant	NM_006412.4(AGPAT2):c.453A>G (p.Thr151=)	Congenital generalized lipodystrophy type 1 [RCV000259829]	uncertain significance	9	136677000	136677000	Human	1	name , alternate_id
405747615	CV3253982	single nucleotide variant	NM_006412.4(AGPAT2):c.32T>G (p.Leu11Arg)	Congenital generalized lipodystrophy type 1 [RCV005040634]\|Inborn genetic diseases [RCV004392246]	uncertain significance	9	136687326	136687326	Human	2	name , alternate_id
405747781	CV3254006	single nucleotide variant	NM_006412.4(AGPAT2):c.86A>G (p.Lys29Arg)	Inborn genetic diseases [RCV004392271]	uncertain significance	9	136687272	136687272	Human	1	name
597688284	CV3726138	single nucleotide variant	NM_006412.4(AGPAT2):c.819C>T (p.Gly273=)	Congenital generalized lipodystrophy type 1 [RCV005046085]	likely benign	9	136673770	136673770	Human	1	name , alternate_id
597688527	CV3726176	single nucleotide variant	NM_006412.4(AGPAT2):c.98A>G (p.Tyr33Cys)	Congenital generalized lipodystrophy type 1 [RCV005046109]	uncertain significance	9	136687260	136687260	Human	1	name , alternate_id
597714299	CV3726179	single nucleotide variant	NM_006412.4(AGPAT2):c.31C>G (p.Leu11Val)	Congenital generalized lipodystrophy type 1 [RCV005049006]	uncertain significance	9	136687327	136687327	Human	1	name , alternate_id
597907494	CV3843018	single nucleotide variant	NM_006412.4(AGPAT2):c.405C>T (p.Leu135=)	not provided [RCV005182326]	likely benign	9	136677048	136677048	Human		name
13213580	CV428957	single nucleotide variant	NM_006412.4(AGPAT2):c.786C>A (p.Thr262=)	not provided [RCV005091078]\|not specified [RCV000500080]	likely benign	9	136673803	136673803	Human		name
15182379	CV711878	single nucleotide variant	NM_006412.4(AGPAT2):c.828G>A (p.Pro276=)	not provided [RCV000974617]	likely benign	9	136673761	136673761	Human		name
15165897	CV723471	single nucleotide variant	NM_006412.4(AGPAT2):c.762C>T (p.Thr254=)	AGPAT2-related disorder [RCV003968006]\|Congenital generalized lipodystrophy type 1 [RCV001165475]\|not provided [RCV000882513]	likely benign\|uncertain significance	9	136673827	136673827	Human	1	name , trait , alternate_id
15192602	CV737029	single nucleotide variant	NM_006412.4(AGPAT2):c.741C>T (p.Thr247=)	Congenital generalized lipodystrophy type 1 [RCV001165477]\|not provided [RCV000910591]	benign\|likely benign	9	136673848	136673848	Human	1	name , alternate_id
15124767	CV737030	single nucleotide variant	NM_006412.4(AGPAT2):c.544C>T (p.Leu182=)	not provided [RCV000896648]	likely benign	9	136676629	136676629	Human		name
15128298	CV737031	single nucleotide variant	NM_006412.4(AGPAT2):c.408G>A (p.Gly136=)	Congenital generalized lipodystrophy type 1 [RCV002479028]\|not provided [RCV000897247]	likely benign	9	136677045	136677045	Human	1	name , alternate_id
15103659	CV751574	single nucleotide variant	NM_006412.4(AGPAT2):c.717G>A (p.Ala239=)	not provided [RCV000915206]	likely benign	9	136673872	136673872	Human		name
15121247	CV767309	single nucleotide variant	NM_006412.4(AGPAT2):c.411C>T (p.Gly137=)	not provided [RCV000940487]	likely benign	9	136677042	136677042	Human		name
28887982	CV901560	single nucleotide variant	NM_006412.4(AGPAT2):c.813G>T (p.Gly271=)	Congenital generalized lipodystrophy type 1 [RCV001169499]	uncertain significance	9	136673776	136673776	Human	1	name , alternate_id
28887993	CV901562	single nucleotide variant	NM_006412.4(AGPAT2):c.786C>T (p.Thr262=)	Congenital generalized lipodystrophy type 1 [RCV001169502]	uncertain significance	9	136673803	136673803	Human	1	name , alternate_id
34894098	CV905776	single nucleotide variant	NM_006412.4(AGPAT2):c.29C>G (p.Ala10Gly)	Monogenic diabetes [RCV001174398]	uncertain significance	9	136687329	136687329	Human	1	name
150549427	CV1295171	single nucleotide variant	NM_006412.4(AGPAT2):c.223G>C (p.Gly75Arg)	Congenital generalized lipodystrophy type 1 [RCV002496085]\|not provided [RCV001765132]	uncertain significance	9	136677516	136677516	Human	1	name , alternate_id
151355311	CV1328378	single nucleotide variant	NM_006412.4(AGPAT2):c.190G>A (p.Gly64Ser)	Congenital generalized lipodystrophy type 1 [RCV002482364]\|Inborn genetic diseases [RCV005330920]\|not provided [RCV002542617]\|not specified [RCV001820383]	likely benign\|uncertain significance	9	136677549	136677549	Human	2	name , alternate_id
151356296	CV1329060	single nucleotide variant	NM_006412.4(AGPAT2):c.269G>C (p.Arg90Pro)	Congenital generalized lipodystrophy type 1 [RCV002506858]\|Inborn genetic diseases [RCV004040995]\|not specified [RCV001822649]	uncertain significance	9	136677470	136677470	Human	2	name , alternate_id
8658882	CV133738	single nucleotide variant	NM_006412.4(AGPAT2):c.229C>T (p.Arg77Cys)	Congenital generalized lipodystrophy type 1 [RCV002483193]\|not provided [RCV000116251]	uncertain significance	9	136677510	136677510	Human	1	name , alternate_id
155748972	CV1779015	single nucleotide variant	NM_006412.4(AGPAT2):c.220T>C (p.Tyr74His)	not provided [RCV002304120]	uncertain significance	9	136677519	136677519	Human		name
156377689	CV1956962	single nucleotide variant	NM_006412.4(AGPAT2):c.241C>T (p.Arg81Trp)	not provided [RCV002582938]	uncertain significance	9	136677498	136677498	Human		name
156209398	CV1959547	single nucleotide variant	NM_006412.4(AGPAT2):c.223G>A (p.Gly75Arg)	Congenital generalized lipodystrophy type 1 [RCV005042860]\|not provided [RCV002575092]	uncertain significance	9	136677516	136677516	Human	1	name , alternate_id
156268957	CV2135187	single nucleotide variant	NM_006412.4(AGPAT2):c.119T>C (p.Val40Ala)	not provided [RCV002988750]	uncertain significance	9	136687239	136687239	Human		name
155957319	CV2140280	single nucleotide variant	NM_006412.4(AGPAT2):c.103G>A (p.Ala35Thr)	Congenital generalized lipodystrophy type 1 [RCV005050686]\|Inborn genetic diseases [RCV002994968]\|not provided [RCV002994967]	uncertain significance	9	136687255	136687255	Human	2	name , alternate_id
8559455	CV21663	single nucleotide variant	NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter)	Congenital generalized lipodystrophy type 1 [RCV000007003]\|not provided [RCV001701561]	pathogenic	9	136677537	136677537	Human	1	name , alternate_id
8559457	CV21665	duplication	NM_006412.4(AGPAT2):c.377dup (p.Pro128fs)	Congenital generalized lipodystrophy type 1 [RCV000007005]\|not provided [RCV005229768]	pathogenic\|likely pathogenic	9	136677075	136677076	Human	1	name , alternate_id
329847299	CV2534467	single nucleotide variant	NM_006412.4(AGPAT2):c.151C>T (p.Arg51Cys)	Congenital generalized lipodystrophy type 1 [RCV003228676]	uncertain significance	9	136687207	136687207	Human	1	name , alternate_id
11636973	CV266583	single nucleotide variant	NM_006412.4(AGPAT2):c.269G>A (p.Arg90His)	Congenital generalized lipodystrophy type 1 [RCV001169547]\|Inborn genetic diseases [RCV004021105]\|not provided [RCV000277912]	conflicting interpretations of pathogenicity\|uncertain significance	9	136677470	136677470	Human	2	name , alternate_id
405747539	CV3253970	single nucleotide variant	NM_006412.4(AGPAT2):c.179T>G (p.Met60Arg)	Inborn genetic diseases [RCV004392234]	uncertain significance	9	136687179	136687179	Human	1	name
405747610	CV3253981	single nucleotide variant	NM_006412.4(AGPAT2):c.283G>A (p.Val95Ile)	Inborn genetic diseases [RCV004392245]	likely benign	9	136677456	136677456	Human	1	name
407479831	CV3442002	single nucleotide variant	NM_006412.4(AGPAT2):c.253A>G (p.Arg85Gly)	Inborn genetic diseases [RCV004617879]	uncertain significance	9	136677486	136677486	Human	1	name
407479861	CV3442012	single nucleotide variant	NM_006412.4(AGPAT2):c.269G>T (p.Arg90Leu)	Inborn genetic diseases [RCV004617889]	uncertain significance	9	136677470	136677470	Human	1	name
12741578	CV359013	deletion	NM_006412.4(AGPAT2):c.538del (p.Asp180fs)	Congenital generalized lipodystrophy type 1 [RCV000412491]	pathogenic\|not provided	9	136676635	136676635	Human	1	name , alternate_id
12741589	CV359017	single nucleotide variant	NM_006412.4(AGPAT2):c.194G>A (p.Trp65Ter)	Congenital generalized lipodystrophy type 1 [RCV000412547]	pathogenic\|not provided	9	136677545	136677545	Human	1	name , alternate_id
597666758	CV3664469	single nucleotide variant	NM_006412.4(AGPAT2):c.251G>A (p.Arg84His)	Inborn genetic diseases [RCV004979569]	likely benign	9	136677488	136677488	Human	1	name
597688319	CV3726141	deletion	NM_006412.4(AGPAT2):c.769del (p.Leu257fs)	Congenital generalized lipodystrophy type 1 [RCV005046088]	likely pathogenic	9	136673820	136673820	Human	1	name , alternate_id
597688447	CV3726164	single nucleotide variant	NM_006412.4(AGPAT2):c.265G>T (p.Ala89Ser)	Congenital generalized lipodystrophy type 1 [RCV005046101]	uncertain significance	9	136677474	136677474	Human	1	name , alternate_id
597688458	CV3726165	single nucleotide variant	NM_006412.4(AGPAT2):c.248C>T (p.Pro83Leu)	Congenital generalized lipodystrophy type 1 [RCV005046102]	uncertain significance	9	136677491	136677491	Human	1	name , alternate_id
597688476	CV3726168	single nucleotide variant	NM_006412.4(AGPAT2):c.235G>A (p.Glu79Lys)	Congenital generalized lipodystrophy type 1 [RCV005046104]	uncertain significance	9	136677504	136677504	Human	1	name , alternate_id
597688488	CV3726170	single nucleotide variant	NM_006412.4(AGPAT2):c.212A>G (p.Lys71Arg)	Congenital generalized lipodystrophy type 1 [RCV005046105]	uncertain significance	9	136677527	136677527	Human	1	name , alternate_id
597688498	CV3726171	single nucleotide variant	NM_006412.4(AGPAT2):c.185T>G (p.Ile62Ser)	Congenital generalized lipodystrophy type 1 [RCV005046106]	uncertain significance	9	136677554	136677554	Human	1	name , alternate_id
597688508	CV3726173	single nucleotide variant	NM_006412.4(AGPAT2):c.137T>C (p.Leu46Pro)	Congenital generalized lipodystrophy type 1 [RCV005046107]	uncertain significance	9	136687221	136687221	Human	1	name , alternate_id
597714277	CV3726175	single nucleotide variant	NM_006412.4(AGPAT2):c.104C>T (p.Ala35Val)	Congenital generalized lipodystrophy type 1 [RCV005049004]	uncertain significance	9	136687254	136687254	Human	1	name , alternate_id
12848621	CV380246	single nucleotide variant	NM_006412.4(AGPAT2):c.199G>A (p.Val67Met)	Congenital generalized lipodystrophy type 1 [RCV001169548]\|Monogenic diabetes [RCV000445545]\|not provided [RCV001865409]	likely benign\|conflicting interpretations of pathogenicity\|uncertain risk allele\|uncertain significance	9	136677540	136677540	Human	2	name , alternate_id
598189118	CV3957303	single nucleotide variant	NM_006412.4(AGPAT2):c.250C>T (p.Arg84Cys)	Inborn genetic diseases [RCV005334490]	uncertain significance	9	136677489	136677489	Human	1	name
598189153	CV3957311	single nucleotide variant	NM_006412.4(AGPAT2):c.134C>T (p.Ser45Leu)	Inborn genetic diseases [RCV005334498]	uncertain significance	9	136687224	136687224	Human	1	name
13704016	CV540014	single nucleotide variant	NM_006412.4(AGPAT2):c.274T>C (p.Cys92Arg)	Monogenic diabetes [RCV000664130]	uncertain significance	9	136677465	136677465	Human	1	name
13704017	CV540015	single nucleotide variant	NM_006412.4(AGPAT2):c.208T>G (p.Phe70Val)	Congenital generalized lipodystrophy type 1 [RCV002485514]\|Monogenic diabetes [RCV000664131]\|not provided [RCV002530621]	uncertain significance	9	136677531	136677531	Human	2	name , alternate_id
14392991	CV540479	deletion	NM_006412.4(AGPAT2):c.513del (p.Glu172fs)	Congenital generalized lipodystrophy type 1 [RCV000754914]	pathogenic	9	136676660	136676660	Human	1	name , alternate_id
21068905	CV788834	deletion	NM_006412.4(AGPAT2):c.335del (p.Pro112fs)	Congenital generalized lipodystrophy type 1 [RCV000985088]\|not provided [RCV001819690]	pathogenic\|likely pathogenic	9	136677118	136677118	Human	1	name , alternate_id
34894097	CV905775	single nucleotide variant	NM_006412.4(AGPAT2):c.230G>A (p.Arg77His)	Congenital generalized lipodystrophy type 1 [RCV002497607]\|Inborn genetic diseases [RCV004032976]\|Monogenic diabetes [RCV001174397]\|not provided [RCV002558770]	likely benign\|uncertain significance	9	136677509	136677509	Human	3	name , alternate_id
150452429	CV1275260	single nucleotide variant	NM_006412.4(AGPAT2):c.685G>T (p.Glu229Ter)	Congenital generalized lipodystrophy type 1 [RCV001706773]	likely pathogenic	9	136673904	136673904	Human	1	name , alternate_id
153301466	CV1325341	single nucleotide variant	NM_006412.4(AGPAT2):c.313A>G (p.Met105Val)	Congenital generalized lipodystrophy [RCV002266031]	pathogenic	9	136677426	136677426	Human	2	name
153303770	CV1686454	single nucleotide variant	NM_006412.4(AGPAT2):c.827C>T (p.Pro276Leu)	not provided [RCV002261888]	uncertain significance	9	136673762	136673762	Human		name
153305631	CV1688688	single nucleotide variant	NM_006412.4(AGPAT2):c.761C>T (p.Thr254Ile)	not specified [RCV002266425]	uncertain significance	9	136673828	136673828	Human		name
155796841	CV1860930	single nucleotide variant	NM_006412.4(AGPAT2):c.788C>G (p.Pro263Arg)	Congenital generalized lipodystrophy type 1 [RCV002468530]	uncertain significance	9	136673801	136673801	Human	1	name , alternate_id
156152080	CV1896026	single nucleotide variant	NM_006412.4(AGPAT2):c.361C>T (p.Arg121Trp)	not provided [RCV003082585]	uncertain significance	9	136677092	136677092	Human		name
10403903	CV207659	single nucleotide variant	NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys)	AGPAT2-related disorder [RCV003917731]\|Congenital generalized lipodystrophy type 1 [RCV001167076]\|Monogenic diabetes [RCV000445508]\|not provided [RCV000883942]\|not specified [RCV000193694]	benign\|likely benign\|conflicting interpretations of pathogenicity	9	136676978	136676978	Human	2	name , trait , alternate_id
10406534	CV207660	single nucleotide variant	NM_006412.4(AGPAT2):c.406G>A (p.Gly136Arg)	Congenital generalized lipodystrophy type 1 [RCV000193026]	pathogenic	9	136677047	136677047	Human	1	name , alternate_id
8559458	CV21666	single nucleotide variant	NM_006412.4(AGPAT2):c.683T>C (p.Leu228Pro)	Congenital generalized lipodystrophy type 1 [RCV000007006]	pathogenic	9	136673906	136673906	Human	1	name , alternate_id
8559460	CV21668	single nucleotide variant	NM_006412.4(AGPAT2):c.643A>T (p.Lys215Ter)	Congenital generalized lipodystrophy type 1 [RCV000007008]	pathogenic	9	136674753	136674753	Human	1	name , alternate_id
8559462	CV21670	single nucleotide variant	NM_006412.4(AGPAT2):c.570C>A (p.Tyr190Ter)	Congenital generalized lipodystrophy type 1 [RCV000007010]	pathogenic	9	136676603	136676603	Human	1	name , alternate_id
156251151	CV2232276	single nucleotide variant	NM_006412.4(AGPAT2):c.617C>T (p.Ser206Phe)	Inborn genetic diseases [RCV002713986]	uncertain significance	9	136674779	136674779	Human	1	name
156451261	CV2402652	single nucleotide variant	NM_006412.4(AGPAT2):c.835T>C (p.Ter279Gln)	not specified [RCV003123458]	uncertain significance	9	136673754	136673754	Human		name
329953912	CV2669254	single nucleotide variant	NM_006412.4(AGPAT2):c.563C>A (p.Ala188Asp)	not provided [RCV003231760]	uncertain significance	9	136676610	136676610	Human		name
401723185	CV2674738	single nucleotide variant	NM_006412.4(AGPAT2):c.733G>A (p.Val245Met)	Inborn genetic diseases [RCV003245089]	likely benign	9	136673856	136673856	Human	1	name
401778718	CV2705573	single nucleotide variant	NM_006412.4(AGPAT2):c.407G>A (p.Gly136Glu)	Inborn genetic diseases [RCV003287200]	uncertain significance	9	136677046	136677046	Human	1	name
401770596	CV2726199	single nucleotide variant	NM_006412.4(AGPAT2):c.344G>A (p.Cys115Tyr)	Inborn genetic diseases [RCV003304085]	uncertain significance	9	136677109	136677109	Human	1	name
401880505	CV2763065	single nucleotide variant	NM_006412.4(AGPAT2):c.803C>T (p.Ala268Val)	Congenital generalized lipodystrophy type 1 [RCV005047550]\|Inborn genetic diseases [RCV003349754]	uncertain significance	9	136673786	136673786	Human	2	name , alternate_id
11602601	CV307685	single nucleotide variant	NM_006412.4(AGPAT2):c.820G>A (p.Val274Met)	Congenital generalized lipodystrophy type 1 [RCV000292158]	uncertain significance	9	136673769	136673769	Human	1	name , alternate_id
11608690	CV311925	single nucleotide variant	NM_006412.4(AGPAT2):c.604G>A (p.Val202Met)	Congenital generalized lipodystrophy type 1 [RCV000358360]	uncertain significance	9	136674792	136674792	Human	1	name , alternate_id
11611028	CV311932	single nucleotide variant	NM_006412.4(AGPAT2):c.315G>T (p.Met105Ile)	Congenital generalized lipodystrophy type 1 [RCV000389300]\|not provided [RCV000418715]	conflicting interpretations of pathogenicity\|uncertain significance	9	136677424	136677424	Human	1	name , alternate_id
11608400	CV317521	single nucleotide variant	NM_006412.4(AGPAT2):c.476G>T (p.Arg159Leu)	Congenital generalized lipodystrophy type 1 [RCV000354825]	uncertain significance	9	136676977	136676977	Human	1	name , alternate_id
11611060	CV318018	single nucleotide variant	NM_006412.4(AGPAT2):c.748C>T (p.Arg250Trp)	Congenital generalized lipodystrophy type 1 [RCV000390096]	uncertain significance	9	136673841	136673841	Human	1	name , alternate_id
11603796	CV318019	single nucleotide variant	NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter)	AGPAT2-related disorder [RCV004751505]\|Congenital generalized lipodystrophy type 1 [RCV000412630]\|not provided [RCV000880987]	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	136674750	136674750	Human	1	name , trait , alternate_id
11659195	CV318029	single nucleotide variant	NM_006412.4(AGPAT2):c.335C>T (p.Pro112Leu)	Congenital generalized lipodystrophy type 1 [RCV000412550]\|not provided [RCV004719805]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	9	136677118	136677118	Human	1	name , alternate_id
405747717	CV3253996	single nucleotide variant	NM_006412.4(AGPAT2):c.480G>A (p.Met160Ile)	Inborn genetic diseases [RCV004392261]	uncertain significance	9	136676973	136676973	Human	1	name
405747729	CV3253998	single nucleotide variant	NM_006412.4(AGPAT2):c.740C>T (p.Thr247Ile)	Congenital generalized lipodystrophy type 1 [RCV005040635]\|Inborn genetic diseases [RCV004392263]	uncertain significance	9	136673849	136673849	Human	2	name , alternate_id
407479803	CV3441991	single nucleotide variant	NM_006412.4(AGPAT2):c.721G>C (p.Val241Leu)	Congenital generalized lipodystrophy type 1 [RCV005040719]\|Inborn genetic diseases [RCV004617868]	uncertain significance	9	136673868	136673868	Human	2	name , alternate_id
407479821	CV3441998	single nucleotide variant	NM_006412.4(AGPAT2):c.629T>C (p.Phe210Ser)	Inborn genetic diseases [RCV004617875]	uncertain significance	9	136674767	136674767	Human	1	name
12741608	CV359010	single nucleotide variant	NM_006412.4(AGPAT2):c.713C>G (p.Ala238Gly)	Congenital generalized lipodystrophy type 1 [RCV000412633]	pathogenic\|not provided	9	136673876	136673876	Human	1	name , alternate_id
12741595	CV359011	single nucleotide variant	NM_006412.4(AGPAT2):c.676C>T (p.Gln226Ter)	Congenital generalized lipodystrophy type 1 [RCV000412578]	pathogenic\|not provided	9	136673913	136673913	Human	1	name , alternate_id
12741611	CV359014	single nucleotide variant	NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys)	Congenital generalized lipodystrophy type 1 [RCV000412645]\|not provided [RCV000494007]	pathogenic\|likely pathogenic	9	136676659	136676659	Human	1	name , alternate_id
12741579	CV359016	single nucleotide variant	NM_006412.4(AGPAT2):c.299G>A (p.Ser100Asn)	Congenital generalized lipodystrophy type 1 [RCV000412496]	pathogenic	9	136677440	136677440	Human	1	name , alternate_id
12741713	CV361196	single nucleotide variant	NM_006412.4(AGPAT2):c.503G>A (p.Trp168Ter)	Congenital generalized lipodystrophy type 1 [RCV000414972]	pathogenic	9	136676670	136676670	Human	1	name , alternate_id
597666765	CV3664472	single nucleotide variant	NM_006412.4(AGPAT2):c.706C>T (p.Leu236Phe)	Inborn genetic diseases [RCV004979570]	uncertain significance	9	136673883	136673883	Human	1	name
597666767	CV3664475	single nucleotide variant	NM_006412.4(AGPAT2):c.425A>C (p.Asn142Thr)	Inborn genetic diseases [RCV004979571]	uncertain significance	9	136677028	136677028	Human	1	name
12839517	CV370797	single nucleotide variant	NM_006412.4(AGPAT2):c.365A>C (p.Glu122Ala)	not provided [RCV000428956]	uncertain significance	9	136677088	136677088	Human		name
597688296	CV3726139	single nucleotide variant	NM_006412.4(AGPAT2):c.806C>A (p.Thr269Asn)	Congenital generalized lipodystrophy type 1 [RCV005046086]	uncertain significance	9	136673783	136673783	Human	1	name , alternate_id
597688308	CV3726140	single nucleotide variant	NM_006412.4(AGPAT2):c.785C>T (p.Thr262Ile)	Congenital generalized lipodystrophy type 1 [RCV005046087]	uncertain significance	9	136673804	136673804	Human	1	name , alternate_id
597714172	CV3726142	single nucleotide variant	NM_006412.4(AGPAT2):c.761C>A (p.Thr254Asn)	Congenital generalized lipodystrophy type 1 [RCV005048994]	uncertain significance	9	136673828	136673828	Human	1	name , alternate_id
597688326	CV3726143	single nucleotide variant	NM_006412.4(AGPAT2):c.751G>A (p.Ala251Thr)	Congenital generalized lipodystrophy type 1 [RCV005046089]	uncertain significance	9	136673838	136673838	Human	1	name , alternate_id
597714183	CV3726144	single nucleotide variant	NM_006412.4(AGPAT2):c.713C>T (p.Ala238Val)	Congenital generalized lipodystrophy type 1 [RCV005048995]	uncertain significance	9	136673876	136673876	Human	1	name , alternate_id
597688346	CV3726145	single nucleotide variant	NM_006412.4(AGPAT2):c.698C>T (p.Thr233Ile)	Congenital generalized lipodystrophy type 1 [RCV005046091]	uncertain significance	9	136673891	136673891	Human	1	name , alternate_id
597688364	CV3726148	single nucleotide variant	NM_006412.4(AGPAT2):c.623C>T (p.Ser208Phe)	Congenital generalized lipodystrophy type 1 [RCV005046093]	uncertain significance	9	136674773	136674773	Human	1	name , alternate_id
597688376	CV3726150	single nucleotide variant	NM_006412.4(AGPAT2):c.598G>A (p.Val200Ile)	Congenital generalized lipodystrophy type 1 [RCV005046094]	uncertain significance	9	136674798	136674798	Human	1	name , alternate_id
597714205	CV3726151	single nucleotide variant	NM_006412.4(AGPAT2):c.532A>G (p.Asn178Asp)	Congenital generalized lipodystrophy type 1 [RCV005048997]	uncertain significance	9	136676641	136676641	Human	1	name , alternate_id
597688385	CV3726152	single nucleotide variant	NM_006412.4(AGPAT2):c.526A>G (p.Asn176Asp)	Congenital generalized lipodystrophy type 1 [RCV005046095]	uncertain significance	9	136676647	136676647	Human	1	name , alternate_id
597688396	CV3726153	single nucleotide variant	NM_006412.4(AGPAT2):c.521C>T (p.Thr174Ile)	Congenital generalized lipodystrophy type 1 [RCV005046096]	uncertain significance	9	136676652	136676652	Human	1	name , alternate_id
597688406	CV3726154	single nucleotide variant	NM_006412.4(AGPAT2):c.509A>G (p.Tyr170Cys)	Congenital generalized lipodystrophy type 1 [RCV005046097]	uncertain significance	9	136676664	136676664	Human	1	name , alternate_id
597688416	CV3726155	single nucleotide variant	NM_006412.4(AGPAT2):c.484A>G (p.Arg162Gly)	Congenital generalized lipodystrophy type 1 [RCV005046098]	uncertain significance	9	136676969	136676969	Human	1	name , alternate_id
597714215	CV3726156	single nucleotide variant	NM_006412.4(AGPAT2):c.481G>T (p.Val161Phe)	Congenital generalized lipodystrophy type 1 [RCV005048998]	uncertain significance	9	136676972	136676972	Human	1	name , alternate_id
597714225	CV3726157	single nucleotide variant	NM_006412.4(AGPAT2):c.463G>A (p.Asp155Asn)	Congenital generalized lipodystrophy type 1 [RCV005048999]	uncertain significance	9	136676990	136676990	Human	1	name , alternate_id
597688425	CV3726159	single nucleotide variant	NM_006412.4(AGPAT2):c.433C>A (p.Arg145Ser)	Congenital generalized lipodystrophy type 1 [RCV005046099]	uncertain significance	9	136677020	136677020	Human	1	name , alternate_id
597688437	CV3726160	single nucleotide variant	NM_006412.4(AGPAT2):c.427C>T (p.Arg143Trp)	Congenital generalized lipodystrophy type 1 [RCV005046100]	uncertain significance	9	136677026	136677026	Human	1	name , alternate_id
597714236	CV3726161	single nucleotide variant	NM_006412.4(AGPAT2):c.362G>A (p.Arg121Gln)	Congenital generalized lipodystrophy type 1 [RCV005049000]	uncertain significance	9	136677091	136677091	Human	1	name , alternate_id
597714249	CV3726162	single nucleotide variant	NM_006412.4(AGPAT2):c.341G>A (p.Arg114His)	Congenital generalized lipodystrophy type 1 [RCV005049001]	uncertain significance	9	136677112	136677112	Human	1	name , alternate_id
597714258	CV3726163	single nucleotide variant	NM_006412.4(AGPAT2):c.323T>C (p.Met108Thr)	Congenital generalized lipodystrophy type 1 [RCV005049002]\|Inborn genetic diseases [RCV005325959]	uncertain significance	9	136677130	136677130	Human	2	name , alternate_id
12848543	CV380242	single nucleotide variant	NM_006412.4(AGPAT2):c.809C>T (p.Ala270Val)	Congenital generalized lipodystrophy type 1 [RCV001169500]\|Monogenic diabetes [RCV000445394]\|not provided [RCV000965123]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	136673780	136673780	Human	2	name , alternate_id
12848572	CV380243	single nucleotide variant	NM_006412.4(AGPAT2):c.640A>G (p.Lys214Glu)	Congenital generalized lipodystrophy type 1 [RCV002467799]\|Monogenic diabetes [RCV000445463]\|not provided [RCV000909273]	likely benign\|uncertain significance	9	136674756	136674756	Human	2	name , alternate_id
12848538	CV380244	single nucleotide variant	NM_006412.4(AGPAT2):c.359A>G (p.Lys120Arg)	AGPAT2-related disorder [RCV003912787]\|Congenital generalized lipodystrophy type 1 [RCV002467800]\|Monogenic diabetes [RCV000445386]\|not provided [RCV003480630]\|not specified [RCV003488594]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	136677094	136677094	Human	2	name , trait , alternate_id
12848570	CV380245	single nucleotide variant	NM_006412.4(AGPAT2):c.340C>T (p.Arg114Cys)	AGPAT2-related disorder [RCV003970249]\|Congenital generalized lipodystrophy type 1 [RCV003884538]\|Monogenic diabetes [RCV000445461]\|not provided [RCV000969569]	likely risk allele\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|no classifications from unflagged records	9	136677113	136677113	Human	2	name , trait , alternate_id
597892976	CV3809858	single nucleotide variant	NM_006412.4(AGPAT2):c.731T>C (p.Leu244Pro)	not provided [RCV005151579]	uncertain significance	9	136673858	136673858	Human		name
598123241	CV3890258	single nucleotide variant	NM_006412.4(AGPAT2):c.394A>C (p.Ile132Leu)	not provided [RCV005250777]	uncertain significance	9	136677059	136677059	Human		name
598189180	CV3957318	single nucleotide variant	NM_006412.4(AGPAT2):c.346G>A (p.Val116Met)	Inborn genetic diseases [RCV005334505]	uncertain significance	9	136677107	136677107	Human	1	name
13515461	CV492918	single nucleotide variant	NM_006412.4(AGPAT2):c.716C>T (p.Ala239Val)	Congenital generalized lipodystrophy type 1 [RCV001165478]\|not provided [RCV002062081]\|not specified [RCV000594308]	benign\|likely benign	9	136673873	136673873	Human	1	name , alternate_id
13704013	CV540013	indel	NM_006412.4(AGPAT2):c.646_647= (p.Lys216=)	Monogenic diabetes [RCV000664129]	uncertain significance	9	136674749	136674750	Human		name
13831964	CV582461	single nucleotide variant	NM_006412.4(AGPAT2):c.755T>C (p.Met252Thr)	Congenital generalized lipodystrophy type 1 [RCV005046981]\|not provided [RCV000722649]	uncertain significance	9	136673834	136673834	Human	1	name , alternate_id
13832057	CV582550	single nucleotide variant	NM_006412.4(AGPAT2):c.557A>C (p.Lys186Thr)	not provided [RCV000722740]	uncertain significance	9	136676616	136676616	Human		name
14698938	CV624154	single nucleotide variant	NM_006412.4(AGPAT2):c.698C>A (p.Thr233Asn)	Congenital generalized lipodystrophy type 1 [RCV000788112]	uncertain significance	9	136673891	136673891	Human	1	name , alternate_id
28887988	CV901561	single nucleotide variant	NM_006412.4(AGPAT2):c.788C>T (p.Pro263Leu)	Congenital generalized lipodystrophy type 1 [RCV001169501]\|not provided [RCV002557465]	uncertain significance	9	136673801	136673801	Human	1	name , alternate_id
28874700	CV901563	single nucleotide variant	NM_006412.4(AGPAT2):c.749G>A (p.Arg250Gln)	Congenital generalized lipodystrophy type 1 [RCV001165476]\|Inborn genetic diseases [RCV005328545]\|not provided [RCV002558606]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	136673840	136673840	Human	2	name , alternate_id
28879560	CV901564	single nucleotide variant	NM_006412.4(AGPAT2):c.647A>T (p.Lys216Met)	AGPAT2-related disorder [RCV003945892]\|Congenital generalized lipodystrophy type 1 [RCV001167074]\|Inborn genetic diseases [RCV002557435]\|not provided [RCV001397951]	likely benign\|uncertain significance	9	136674749	136674749	Human	2	name , trait , alternate_id
28881514	CV901565	single nucleotide variant	NM_006412.4(AGPAT2):c.415T>G (p.Phe139Val)	Congenital generalized lipodystrophy type 1 [RCV001167653]	uncertain significance	9	136677038	136677038	Human	1	name , alternate_id
28881520	CV901566	single nucleotide variant	NM_006412.4(AGPAT2):c.397A>G (p.Met133Val)	Congenital generalized lipodystrophy type 1 [RCV001167654]	uncertain significance	9	136677056	136677056	Human	1	name , alternate_id
28881524	CV901567	single nucleotide variant	NM_006412.4(AGPAT2):c.361C>G (p.Arg121Gly)	Congenital generalized lipodystrophy type 1 [RCV001167655]	uncertain significance	9	136677092	136677092	Human	1	name , alternate_id
34894095	CV905773	single nucleotide variant	NM_006412.4(AGPAT2):c.461C>A (p.Ala154Asp)	Congenital generalized lipodystrophy type 1 [RCV005039998]\|Inborn genetic diseases [RCV003163384]\|Monogenic diabetes [RCV001174396]\|not provided [RCV003106137]	uncertain significance	9	136676992	136676992	Human	3	name , alternate_id
34894090	CV905774	single nucleotide variant	NM_006412.4(AGPAT2):c.455T>C (p.Val152Ala)	Congenital generalized lipodystrophy type 1 [RCV005049779]\|Inborn genetic diseases [RCV002558769]\|Monogenic diabetes [RCV001174393]	uncertain significance	9	136676998	136676998	Human	3	name , alternate_id
11548968	CV253485	microsatellite	NM_006412.4(AGPAT2):c.40CTG[5] (p.Leu17dup)	Congenital generalized lipodystrophy [RCV000346337]\|not provided [RCV001651194]\|not specified [RCV000249797]	benign\|likely benign	9	136687306	136687307	Human		name
11663817	CV311934	microsatellite	NM_006412.4(AGPAT2):c.-10GGGCC[3] (p.Met1fs)	Congenital generalized lipodystrophy [RCV000399921]	uncertain significance	9	136687357	136687358	Human		name
405855279	CV3394041	duplication	NM_006412.4(AGPAT2):c.254_258dup (p.Gln87fs)	Congenital generalized lipodystrophy type 1 [RCV004547267]	likely pathogenic	9	136677480	136677481	Human	1	name , alternate_id
597688467	CV3726167	deletion	NM_006412.4(AGPAT2):c.242_245del (p.Arg81fs)	Congenital generalized lipodystrophy type 1 [RCV005046103]	likely pathogenic	9	136677494	136677497	Human	1	name , alternate_id
127249473	CV1061650	deletion	NM_006412.4(AGPAT2):c.369_372del (p.Leu124fs)	Congenital generalized lipodystrophy type 1 [RCV002246369]\|not provided [RCV001385113]	pathogenic	9	136677081	136677084	Human	1	name , alternate_id
156141994	CV2113057	microsatellite	NM_006412.4(AGPAT2):c.640AAG[2] (p.Lys216del)	Congenital generalized lipodystrophy type 1 [RCV003228108]\|not provided [RCV002914943]	uncertain significance	9	136674748	136674750	Human		name , alternate_id
8559459	CV21667	microsatellite	NM_006412.4(AGPAT2):c.415TTC[1] (p.Phe140del)	Congenital generalized lipodystrophy type 1 [RCV000007007]	pathogenic\|uncertain significance	9	136677033	136677035	Human		name , alternate_id
401905198	CV2796128	microsatellite	NM_006412.4(AGPAT2):c.656_660del (p.Thr219fs)	AGPAT2-related disorder [RCV003420787]\|not provided [RCV004790552]	likely pathogenic	9	136674736	136674740	Human		name , trait , alternate_id
407470121	CV3415635	duplication	NM_006412.4(AGPAT2):c.530_537dup (p.Asp180fs)	Congenital generalized lipodystrophy type 1 [RCV004598518]	pathogenic	9	136676635	136676636	Human	1	name , alternate_id
597688356	CV3726147	microsatellite	NM_006412.4(AGPAT2):c.623CCT[1] (p.Ser209del)	Congenital generalized lipodystrophy type 1 [RCV005046092]	uncertain significance	9	136674768	136674770	Human		name , alternate_id
14392992	CV540478	deletion	NM_006412.4(AGPAT2):c.622_626del (p.Ser208fs)	Congenital generalized lipodystrophy type 1 [RCV000754915]	pathogenic	9	136674770	136674774	Human	1	name , alternate_id
155954547	CV1896703	inversion	NM_006412.4(AGPAT2):c.646_647inv (p.Lys216Leu)	AGPAT2-related disorder [RCV003963649]\|Congenital generalized lipodystrophy type 1 [RCV003228120]\|not provided [RCV003095511]	uncertain significance	9	136674749	136674750	Human		name , trait , alternate_id
13831950	CV582447	microsatellite	NM_006412.4(AGPAT2):c.40CTG[6] (p.Leu16_Leu17dup)	not provided [RCV000722635]	uncertain significance	9	136687306	136687307	Human		name
12741580	CV359009	deletion	NM_006412.4(AGPAT2):c.755_763del (p.Met252_Thr254del)	Congenital generalized lipodystrophy type 1 [RCV000412504]	pathogenic\|not provided	9	136673826	136673834	Human	1	name , alternate_id
597714195	CV3726146	deletion	NM_006412.4(AGPAT2):c.626_631del (p.Ser209_Phe210del)	Congenital generalized lipodystrophy type 1 [RCV005048996]	uncertain significance	9	136674765	136674770	Human	1	name , alternate_id
12741592	CV359027	deletion	NM_006412.3(AGPAT2):c.(316+1_317-1)_(588+1_589-1)del (p.Leu107AlafsTer279)	Congenital generalized lipodystrophy type 1 [RCV000412558]	pathogenic				Human	1	name , alternate_id

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message