Baat Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)

191 records found for search term Baat

Refine Term:

Assembly:

Chr

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
10050688	CV192307	single nucleotide variant	NM_001701.4(BAAT):c.-6A>T	BAAT-related disorder [RCV003927609]\|not provided [RCV000175698]	likely benign\|uncertain significance	9	101371410	101371410	Human	1	name , trait , alternate_id
11603287	CV306252	single nucleotide variant	NM_001701.4(BAAT):c.*46G>A	Bile acid conjugation defect 1 [RCV001553897]\|Hypercholanemia, familial 1 [RCV000298523]\|not provided [RCV001683439]	benign	9	101362382	101362382	Human	3	name
11603287	CV306252	single nucleotide variant	NM_001701.4(BAAT):c.*46G>A	Bile acid conjugation defect 1 [RCV001553897]\|Hypercholanemia, familial 1 [RCV000298523]\|not provided [RCV001683439]	benign	9	101362382	101362383	Human	3	name
28881672	CV900656	single nucleotide variant	NM_001701.4(BAAT):c.*95C>T	Hypercholanemia, familial 1 [RCV001167695]	uncertain significance	9	101362333	101362333	Human	1	name
28879957	CV900666	single nucleotide variant	NM_001701.4(BAAT):c.-92C>T	Hypercholanemia, familial 1 [RCV001167183]	uncertain significance	9	101384887	101384887	Human	1	name
11603035	CV306251	single nucleotide variant	NM_001701.4(BAAT):c.*955A>G	Hypercholanemia, familial 1 [RCV000296039]	benign\|uncertain significance	9	101361473	101361473	Human	1	name
11607026	CV306257	single nucleotide variant	NM_001701.4(BAAT):c.-209C>T	Hypercholanemia, familial 1 [RCV000338434]	uncertain significance	9	101385004	101385004	Human	1	name
11607495	CV310356	single nucleotide variant	NM_001701.4(BAAT):c.*948C>A	Hypercholanemia, familial 1 [RCV000344002]\|not provided [RCV004712666]	benign	9	101361480	101361480	Human	1	name
11602407	CV310358	single nucleotide variant	NM_001701.4(BAAT):c.*787T>C	Hypercholanemia, familial [RCV000290459]	uncertain significance	9	101361641	101361641	Human	1	name
11611886	CV315677	single nucleotide variant	NM_001701.4(BAAT):c.*589C>T	Hypercholanemia, familial 1 [RCV000400968]\|not provided [RCV004712668]	benign\|likely benign	9	101361839	101361839	Human	1	name
11607396	CV315679	single nucleotide variant	NM_001701.4(BAAT):c.*199A>T	Hypercholanemia, familial 1 [RCV000342959]	uncertain significance	9	101362229	101362229	Human	1	name
11611765	CV315680	single nucleotide variant	NM_001701.4(BAAT):c.*160T>C	Hypercholanemia, familial 1 [RCV000399180]\|not provided [RCV004712669]	benign\|likely benign	9	101362268	101362268	Human	1	name
11606758	CV315733	single nucleotide variant	NM_001701.4(BAAT):c.-116G>A	Hypercholanemia, familial 1 [RCV000335246]	benign\|likely benign	9	101384911	101384911	Human	1	name
11663551	CV315741	single nucleotide variant	NM_001701.4(BAAT):c.-183T>A	Hypercholanemia, familial 1 [RCV000396862]	uncertain significance	9	101384978	101384978	Human	1	name
11610497	CV315804	single nucleotide variant	NM_001701.4(BAAT):c.*895C>T	Hypercholanemia, familial 1 [RCV000382299]	benign\|likely benign	9	101361533	101361533	Human	1	name
11607784	CV315805	single nucleotide variant	NM_001701.4(BAAT):c.*611G>A	Hypercholanemia, familial 1 [RCV000347713]\|not provided [RCV004712667]	benign\|likely benign	9	101361817	101361817	Human	1	name
11603924	CV315808	single nucleotide variant	NM_001701.4(BAAT):c.*459G>A	Hypercholanemia, familial 1 [RCV000304401]	likely benign\|uncertain significance	9	101361969	101361969	Human	1	name
11648299	CV315809	single nucleotide variant	NM_001701.4(BAAT):c.-208C>T	Hypercholanemia, familial 1 [RCV000281093]	uncertain significance	9	101385003	101385003	Human	1	name
28888103	CV900645	single nucleotide variant	NM_001701.4(BAAT):c.*936T>C	Hypercholanemia, familial 1 [RCV001169529]	uncertain significance	9	101361492	101361492	Human	1	name
28874803	CV900646	single nucleotide variant	NM_001701.4(BAAT):c.*831A>G	Hypercholanemia, familial 1 [RCV001165516]	uncertain significance	9	101361597	101361597	Human	1	name
28874806	CV900647	single nucleotide variant	NM_001701.4(BAAT):c.*668A>G	Hypercholanemia, familial 1 [RCV001165517]	uncertain significance	9	101361760	101361760	Human	1	name
28874809	CV900648	single nucleotide variant	NM_001701.4(BAAT):c.*660G>T	Hypercholanemia, familial 1 [RCV001165518]	uncertain significance	9	101361768	101361768	Human	1	name
28874811	CV900649	single nucleotide variant	NM_001701.4(BAAT):c.*624T>C	Hypercholanemia, familial 1 [RCV001165519]	likely benign	9	101361804	101361804	Human	1	name
28874813	CV900650	single nucleotide variant	NM_001701.4(BAAT):c.*573G>T	Hypercholanemia, familial 1 [RCV001165520]	uncertain significance	9	101361855	101361855	Human	1	name
28879717	CV900651	single nucleotide variant	NM_001701.4(BAAT):c.*538T>C	Hypercholanemia, familial 1 [RCV001167116]	uncertain significance	9	101361890	101361890	Human	1	name
28879722	CV900652	single nucleotide variant	NM_001701.4(BAAT):c.*426A>G	Hypercholanemia, familial 1 [RCV001167117]	uncertain significance	9	101362002	101362002	Human	1	name
28879725	CV900653	single nucleotide variant	NM_001701.4(BAAT):c.*365T>C	Hypercholanemia, familial 1 [RCV001167118]	uncertain significance	9	101362063	101362063	Human	1	name
28879730	CV900654	single nucleotide variant	NM_001701.4(BAAT):c.*312A>G	Hypercholanemia, familial 1 [RCV001167119]\|not provided [RCV001595069]	benign	9	101362116	101362116	Human	1	name
28879732	CV900655	single nucleotide variant	NM_001701.4(BAAT):c.*224A>T	Hypercholanemia, familial 1 [RCV001167120]	uncertain significance	9	101362204	101362204	Human	1	name
28879960	CV900667	single nucleotide variant	NM_001701.4(BAAT):c.-176C>T	Hypercholanemia, familial 1 [RCV001167184]	uncertain significance	9	101384971	101384971	Human	1	name
11611727	CV306215	single nucleotide variant	NM_001701.4(BAAT):c.*1701G>C	Hypercholanemia, familial 1 [RCV000398913]	likely benign\|uncertain significance	9	101360727	101360727	Human	1	name
11607694	CV306216	single nucleotide variant	NM_001701.4(BAAT):c.*1475G>A	Hypercholanemia, familial 1 [RCV000346788]\|not provided [RCV004712662]	benign	9	101360953	101360953	Human	1	name
11611795	CV306218	single nucleotide variant	NM_001701.4(BAAT):c.*1458G>A	Hypercholanemia, familial 1 [RCV000399579]\|not provided [RCV004712663]	benign\|likely benign	9	101360970	101360970	Human	1	name
11603709	CV306222	single nucleotide variant	NM_001701.4(BAAT):c.*1316A>C	Hypercholanemia, familial [RCV000302555]	uncertain significance	9	101361112	101361112	Human	1	name
11599512	CV306223	deletion	NM_001701.4(BAAT):c.*1205del	Hypercholanemia, familial [RCV000266375]	uncertain significance	9	101361223	101361223	Human	1	name
11598847	CV306231	single nucleotide variant	NM_001701.4(BAAT):c.*1139T>G	Hypercholanemia, familial 1 [RCV000260585]	uncertain significance	9	101361289	101361289	Human	1	name
11654545	CV306234	single nucleotide variant	NM_001701.4(BAAT):c.*1136A>G	Hypercholanemia, familial 1 [RCV000318181]	uncertain significance	9	101361292	101361292	Human	1	name
11600417	CV306238	single nucleotide variant	NM_001701.4(BAAT):c.*1041A>C	Hypercholanemia, familial 1 [RCV000273572]	benign\|uncertain significance	9	101361387	101361387	Human	1	name
11658467	CV310320	single nucleotide variant	NM_001701.4(BAAT):c.*1890C>A	Hypercholanemia, familial 1 [RCV000348848]	uncertain significance	9	101360538	101360538	Human	1	name
11611471	CV310326	single nucleotide variant	NM_001701.4(BAAT):c.*1886T>C	Hypercholanemia, familial 1 [RCV000395124]\|not provided [RCV004712661]	benign	9	101360542	101360542	Human	1	name
11602995	CV310331	single nucleotide variant	NM_001701.4(BAAT):c.*1884G>A	Hypercholanemia, familial 1 [RCV000295640]	benign\|likely benign	9	101360544	101360544	Human	1	name
11608258	CV310332	single nucleotide variant	NM_001701.4(BAAT):c.*1824C>T	Hypercholanemia, familial 1 [RCV000352739]	likely benign\|uncertain significance	9	101360604	101360604	Human	1	name
11653044	CV310350	single nucleotide variant	NM_001701.4(BAAT):c.*1575T>G	Hypercholanemia, familial 1 [RCV000308325]	uncertain significance	9	101360853	101360853	Human	1	name
11609975	CV310354	single nucleotide variant	NM_001701.4(BAAT):c.*1090A>G	Hypercholanemia, familial 1 [RCV000375007]\|not provided [RCV004712664]	benign\|likely benign	9	101361338	101361338	Human	1	name
11606406	CV310355	single nucleotide variant	NM_001701.4(BAAT):c.*1030T>A	Hypercholanemia, familial 1 [RCV000331110]	uncertain significance	9	101361398	101361398	Human	1	name
11608701	CV315624	single nucleotide variant	NM_001701.4(BAAT):c.*1218A>G	Hypercholanemia, familial 1 [RCV000358836]	uncertain significance	9	101361210	101361210	Human	1	name
11608277	CV315626	single nucleotide variant	NM_001701.4(BAAT):c.*1164C>T	Hypercholanemia, familial [RCV000352907]	uncertain significance	9	101361264	101361264	Human	1	name
11610933	CV315676	single nucleotide variant	NM_001701.4(BAAT):c.*1029A>T	Hypercholanemia, familial 1 [RCV000387940]\|not provided [RCV004712665]	benign\|likely benign	9	101361399	101361399	Human	1	name
11601456	CV315801	single nucleotide variant	NM_001701.4(BAAT):c.*1998T>C	Hypercholanemia, familial 1 [RCV000282209]	benign\|likely benign	9	101360430	101360430	Human	1	name
28874656	CV900632	single nucleotide variant	NM_001701.4(BAAT):c.*1864G>T	Hypercholanemia, familial 1 [RCV001165460]	uncertain significance	9	101360564	101360564	Human	1	name
28874659	CV900633	single nucleotide variant	NM_001701.4(BAAT):c.*1828C>T	Hypercholanemia, familial 1 [RCV001165461]	uncertain significance	9	101360600	101360600	Human	1	name
28874661	CV900634	single nucleotide variant	NM_001701.4(BAAT):c.*1712G>C	Hypercholanemia, familial 1 [RCV001165462]	uncertain significance	9	101360716	101360716	Human	1	name
28879460	CV900635	single nucleotide variant	NM_001701.4(BAAT):c.*1617C>T	Hypercholanemia, familial 1 [RCV001167045]	likely benign	9	101360811	101360811	Human	1	name
28879463	CV900636	single nucleotide variant	NM_001701.4(BAAT):c.*1597C>A	Hypercholanemia, familial 1 [RCV001167046]\|not provided [RCV004695093]	uncertain significance	9	101360831	101360831	Human	1	name
28879469	CV900637	single nucleotide variant	NM_001701.4(BAAT):c.*1557C>A	Hypercholanemia, familial 1 [RCV001167047]	uncertain significance	9	101360871	101360871	Human	1	name
28879474	CV900638	single nucleotide variant	NM_001701.4(BAAT):c.*1528C>A	Hypercholanemia, familial 1 [RCV001167048]	uncertain significance	9	101360900	101360900	Human	1	name
28879477	CV900639	single nucleotide variant	NM_001701.4(BAAT):c.*1422A>G	Hypercholanemia, familial 1 [RCV001167049]	uncertain significance	9	101361006	101361006	Human	1	name
28881441	CV900640	single nucleotide variant	NM_001701.4(BAAT):c.*1341A>G	Hypercholanemia, familial 1 [RCV001167629]	uncertain significance	9	101361087	101361087	Human	1	name
28881447	CV900641	single nucleotide variant	NM_001701.4(BAAT):c.*1307T>A	Hypercholanemia, familial 1 [RCV001167630]	uncertain significance	9	101361121	101361121	Human	1	name
28881451	CV900642	single nucleotide variant	NM_001701.4(BAAT):c.*1130A>G	Hypercholanemia, familial 1 [RCV001167631]	uncertain significance	9	101361298	101361298	Human	1	name
28881454	CV900643	single nucleotide variant	NM_001701.4(BAAT):c.*1085C>G	Hypercholanemia, familial 1 [RCV001167632]	likely benign	9	101361343	101361343	Human	1	name
28888098	CV900644	single nucleotide variant	NM_001701.4(BAAT):c.*1041A>G	Hypercholanemia, familial 1 [RCV001169528]	uncertain significance	9	101361387	101361387	Human	1	name
150499121	CV1254307	single nucleotide variant	NM_001701.4(BAAT):c.669+64G>A	not provided [RCV001676481]	benign	9	101368056	101368056	Human		name
11602031	CV306256	single nucleotide variant	NM_001701.4(BAAT):c.-59-14C>A	Hypercholanemia, familial 1 [RCV000287213]	uncertain significance	9	101371477	101371477	Human	1	name
597940802	CV3757284	single nucleotide variant	NM_001701.4(BAAT):c.669+16T>A	not provided [RCV005077470]	likely benign	9	101368104	101368104	Human		name
150514087	CV1228048	single nucleotide variant	NM_001701.4(BAAT):c.669+110G>T	not provided [RCV001638326]	benign	9	101368010	101368010	Human		name
11603966	CV306229	microsatellite	NM_001701.4(BAAT):c.*1173TA[1]	Hypercholanemia, familial [RCV000305122]	likely benign	9	101361252	101361253	Human		name
11641532	CV274065	single nucleotide variant	NM_001701.4(BAAT):c.9G>A (p.Gln3=)	BAAT-related disorder [RCV004755848]\|not provided [RCV000358285]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	101371396	101371396	Human	1	name , trait , alternate_id
13523652	CV492969	single nucleotide variant	NM_001701.4(BAAT):c.15A>G (p.Thr5=)	not provided [RCV000593275]	uncertain significance	9	101371390	101371390	Human		name
10050689	CV192308	single nucleotide variant	NM_001701.4(BAAT):c.2T>A (p.Met1Lys)	Bile acid conjugation defect 1 [RCV003987423]\|not provided [RCV000175699]	uncertain significance	9	101371403	101371403	Human	1	name
13837728	CV589018	single nucleotide variant	NM_001701.4(BAAT):c.30T>C (p.Ser10=)	not provided [RCV000734221]	uncertain significance	9	101371375	101371375	Human		name
405240961	CV3060981	single nucleotide variant	NM_001701.4(BAAT):c.120C>T (p.Asn40=)	not provided [RCV003737247]	likely benign	9	101371285	101371285	Human		name
11648679	CV315691	single nucleotide variant	NM_001701.4(BAAT):c.264A>G (p.Leu88=)	Hypercholanemia, familial 1 [RCV000282989]	uncertain significance	9	101371141	101371141	Human	1	name
11605611	CV315692	single nucleotide variant	NM_001701.4(BAAT):c.178C>T (p.Leu60=)	BAAT-related disorder [RCV003897810]\|Hypercholanemia, familial 1 [RCV000321636]\|not provided [RCV004696101]	likely benign\|uncertain significance	9	101371227	101371227	Human	2	name , trait , alternate_id
405273457	CV3197783	single nucleotide variant	NM_001701.4(BAAT):c.261A>T (p.Leu87=)	BAAT-related disorder [RCV003901748]	likely benign	9	101371144	101371144	Human		name , trait , alternate_id
13516407	CV490259	single nucleotide variant	NM_001701.4(BAAT):c.102A>T (p.Ala34=)	BAAT-related disorder [RCV003900320]\|not provided [RCV000595489]	likely benign\|uncertain significance	9	101371303	101371303	Human	1	name , trait , alternate_id
13522411	CV493296	single nucleotide variant	NM_001701.4(BAAT):c.25G>A (p.Val9Met)	not provided [RCV000591707]	uncertain significance	9	101371380	101371380	Human		name
13835700	CV586962	single nucleotide variant	NM_001701.4(BAAT):c.165C>T (p.Phe55=)	not provided [RCV000731583]	conflicting interpretations of pathogenicity\|uncertain significance	9	101371240	101371240	Human		name
28874989	CV900662	single nucleotide variant	NM_001701.4(BAAT):c.147C>T (p.His49=)	BAAT-related disorder [RCV003953554]\|Hypercholanemia, familial 1 [RCV001165587]	likely benign\|uncertain significance	9	101371258	101371258	Human	2	name , trait , alternate_id
28879951	CV900664	single nucleotide variant	NM_001701.4(BAAT):c.22C>G (p.Pro8Ala)	Hypercholanemia, familial 1 [RCV001167181]	uncertain significance	9	101371383	101371383	Human	1	name
28879954	CV900665	single nucleotide variant	NM_001701.4(BAAT):c.17C>T (p.Ala6Val)	Hypercholanemia, familial 1 [RCV001167182]	uncertain significance	9	101371388	101371388	Human	1	name
126909861	CV1036481	single nucleotide variant	NM_001701.4(BAAT):c.58C>T (p.Arg20Ter)	Bile acid conjugation defect 1 [RCV001353083]	pathogenic	9	101371347	101371347	Human	1	name
10048709	CV194360	single nucleotide variant	NM_001701.4(BAAT):c.951G>A (p.Gln317=)	Hypercholanemia, familial 1 [RCV001167699]\|not provided [RCV000973030]\|not specified [RCV000178167]	benign\|likely benign	9	101362734	101362734	Human	1	name
329361401	CV2459517	single nucleotide variant	NM_001701.4(BAAT):c.53A>G (p.His18Arg)	not specified [RCV004276978]	uncertain significance	9	101371352	101371352	Human		name
11546182	CV253251	single nucleotide variant	NM_001701.4(BAAT):c.59G>A (p.Arg20Gln)	Bile acid conjugation defect 1 [RCV001553898]\|Hypercholanemia, familial 1 [RCV000379275]\|not provided [RCV001711676]\|not specified [RCV000246129]	benign	9	101371346	101371346	Human	2	name
11579731	CV268286	single nucleotide variant	NM_001701.4(BAAT):c.843T>G (p.Ser281=)	Hypercholanemia, familial 1 [RCV000311289]\|not provided [RCV000891613]\|not specified [RCV000382774]	benign\|likely benign\|uncertain significance	9	101362842	101362842	Human	1	name
11647359	CV310368	single nucleotide variant	NM_001701.4(BAAT):c.780C>T (p.Thr260=)	Hypercholanemia, familial 1 [RCV000275785]	uncertain significance	9	101362905	101362905	Human	1	name
405292721	CV3192901	single nucleotide variant	NM_001701.4(BAAT):c.672C>T (p.Val224=)	BAAT-related disorder [RCV003964632]	likely benign	9	101363013	101363013	Human		name , trait , alternate_id
405272443	CV3201296	single nucleotide variant	NM_001701.4(BAAT):c.759C>A (p.Ala253=)	BAAT-related disorder [RCV003901361]	likely benign	9	101362926	101362926	Human		name , trait , alternate_id
405289172	CV3218135	single nucleotide variant	NM_001701.4(BAAT):c.711A>G (p.Gly237=)	BAAT-related disorder [RCV003983537]	likely benign	9	101362974	101362974	Human		name , trait , alternate_id
405291445	CV3219152	single nucleotide variant	NM_001701.4(BAAT):c.564C>G (p.Ser188=)	BAAT-related disorder [RCV003963809]	likely benign	9	101368225	101368225	Human		name , trait , alternate_id
405268189	CV3219624	single nucleotide variant	NM_001701.4(BAAT):c.555C>G (p.Gly185=)	BAAT-related disorder [RCV003969824]	likely benign	9	101368234	101368234	Human		name , trait , alternate_id
8601075	CV34152	single nucleotide variant	NM_001701.4(BAAT):c.858C>G (p.Ser286=)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000020463]	pathogenic\|not provided	9	101362827	101362827	Human	1	name
408383244	CV3504843	single nucleotide variant	NM_001701.4(BAAT):c.462T>A (p.Pro154=)	BAAT-related disorder [RCV004730454]	likely benign	9	101370943	101370943	Human		name , trait , alternate_id
597946812	CV3817772	single nucleotide variant	NM_001701.4(BAAT):c.742C>T (p.Leu248=)	not provided [RCV005160239]	likely benign	9	101362943	101362943	Human		name
13523717	CV492559	single nucleotide variant	NM_001701.4(BAAT):c.684C>A (p.Gly228=)	not provided [RCV000593357]	uncertain significance	9	101363001	101363001	Human		name
13520212	CV492896	single nucleotide variant	NM_001701.4(BAAT):c.903A>T (p.Thr301=)	BAAT-related disorder [RCV003945428]\|not provided [RCV000598461]	likely benign\|uncertain significance	9	101362782	101362782	Human	1	name , trait , alternate_id
13834980	CV586231	single nucleotide variant	NM_001701.4(BAAT):c.762G>A (p.Thr254=)	not provided [RCV000730648]	conflicting interpretations of pathogenicity\|uncertain significance	9	101362923	101362923	Human		name
15119059	CV736794	single nucleotide variant	NM_001701.4(BAAT):c.546C>T (p.Ala182=)	not provided [RCV000895657]	likely benign	9	101368243	101368243	Human		name
28888238	CV900659	single nucleotide variant	NM_001701.4(BAAT):c.561C>T (p.Ala187=)	Hypercholanemia, familial 1 [RCV001169565]	uncertain significance	9	101368228	101368228	Human	1	name
28888241	CV900660	single nucleotide variant	NM_001701.4(BAAT):c.558C>T (p.Phe186=)	Hypercholanemia, familial 1 [RCV001169566]	uncertain significance	9	101368231	101368231	Human	1	name
126909860	CV1036480	single nucleotide variant	NM_001701.4(BAAT):c.206A>T (p.Asp69Val)	Bile acid conjugation defect 1 [RCV001353082]	pathogenic	9	101371199	101371199	Human	1	name
126909863	CV1036482	single nucleotide variant	NM_001701.4(BAAT):c.250C>A (p.Pro84Thr)	Bile acid conjugation defect 1 [RCV001353084]	pathogenic	9	101371155	101371155	Human	1	name
156083233	CV1956329	single nucleotide variant	NM_001701.4(BAAT):c.1059C>T (p.Thr353=)	not provided [RCV002569977]	likely benign	9	101362626	101362626	Human		name
155997847	CV2168836	deletion	NM_001701.4(BAAT):c.867del (p.Leu290fs)	not provided [RCV003017135]	uncertain significance	9	101362818	101362818	Human		name
8597231	CV21759	single nucleotide variant	NM_001701.4(BAAT):c.226A>G (p.Met76Val)	Bile acid conjugation defect 1 [RCV000007112]	pathogenic	9	101371179	101371179	Human	1	name
156080625	CV2249008	single nucleotide variant	NM_001701.4(BAAT):c.211A>T (p.Met71Leu)	not specified [RCV004116298]	uncertain significance	9	101371194	101371194	Human		name
401770983	CV2726323	single nucleotide variant	NM_001701.4(BAAT):c.136T>C (p.Ser46Pro)	not specified [RCV004326765]	uncertain significance	9	101371269	101371269	Human		name
11644233	CV274618	single nucleotide variant	NM_001701.4(BAAT):c.1173C>T (p.His391=)	BAAT-related disorder [RCV003910039]\|not provided [RCV000408442]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	101362512	101362512	Human	1	name , trait , alternate_id
405067156	CV2937126	single nucleotide variant	NM_001701.4(BAAT):c.1254C>T (p.Leu418=)	not provided [RCV003663608]	likely benign	9	101362431	101362431	Human		name
405281445	CV3224127	single nucleotide variant	NM_001701.4(BAAT):c.134A>G (p.Tyr45Cys)	not specified [RCV003988509]	uncertain significance	9	101371271	101371271	Human		name
405690938	CV3290737	single nucleotide variant	NM_001701.4(BAAT):c.127A>G (p.Met43Val)	not specified [RCV004423650]	uncertain significance	9	101371278	101371278	Human		name
408383615	CV3506949	deletion	NM_001701.4(BAAT):c.584del (p.Asn195fs)	BAAT-related disorder [RCV004730757]	likely pathogenic	9	101368205	101368205	Human		name , trait , alternate_id
597701581	CV3625168	single nucleotide variant	NM_001701.4(BAAT):c.223C>A (p.Pro75Thr)	not specified [RCV004885705]	uncertain significance	9	101371182	101371182	Human		name
597854541	CV3821684	single nucleotide variant	NM_001701.4(BAAT):c.1104T>C (p.Tyr368=)	not provided [RCV005174162]	likely benign	9	101362581	101362581	Human		name
598233913	CV3929950	single nucleotide variant	NM_001701.4(BAAT):c.158A>G (p.Asn53Ser)	not specified [RCV005295636]	uncertain significance	9	101371247	101371247	Human		name
13524001	CV489837	single nucleotide variant	NM_001701.4(BAAT):c.223C>T (p.Pro75Ser)	not provided [RCV000593703]\|not specified [RCV004024737]	uncertain significance	9	101371182	101371182	Human		name
13516499	CV490096	single nucleotide variant	NM_001701.4(BAAT):c.1008C>T (p.His336=)	not provided [RCV000595602]	uncertain significance	9	101362677	101362677	Human		name
13524094	CV493487	single nucleotide variant	NM_001701.4(BAAT):c.165C>G (p.Phe55Leu)	not provided [RCV000593832]	uncertain significance	9	101371240	101371240	Human		name
13517876	CV493953	single nucleotide variant	NM_001701.4(BAAT):c.250C>T (p.Pro84Ser)	not provided [RCV000596905]\|not specified [RCV004024857]	uncertain significance	9	101371155	101371155	Human		name
13833389	CV584622	single nucleotide variant	NM_001701.4(BAAT):c.285T>G (p.Asp95Glu)	not provided [RCV000728638]	uncertain significance	9	101371120	101371120	Human		name
13834572	CV585821	single nucleotide variant	NM_001701.4(BAAT):c.220C>T (p.His74Tyr)	not provided [RCV000730123]	uncertain significance	9	101371185	101371185	Human		name
13835158	CV586415	single nucleotide variant	NM_001701.4(BAAT):c.227T>C (p.Met76Thr)	BAAT-related disorder [RCV004756026]\|not provided [RCV000730878]	uncertain significance	9	101371178	101371178	Human	1	name , trait , alternate_id
13835429	CV586687	single nucleotide variant	NM_001701.4(BAAT):c.121G>A (p.Gly41Arg)	BAAT-related disorder [RCV003420303]\|not provided [RCV000731230]	uncertain significance	9	101371284	101371284	Human	1	name , trait , alternate_id
13836543	CV587818	single nucleotide variant	NM_001701.4(BAAT):c.160G>A (p.Glu54Lys)	BAAT-related disorder [RCV003424320]\|not provided [RCV000732691]\|not specified [RCV004027042]	uncertain significance	9	101371245	101371245	Human	1	name , trait , alternate_id
28881676	CV900657	single nucleotide variant	NM_001701.4(BAAT):c.1134C>T (p.His378=)	Hypercholanemia, familial 1 [RCV001167696]\|not provided [RCV002559604]	benign	9	101362551	101362551	Human	1	name
28874992	CV900663	single nucleotide variant	NM_001701.4(BAAT):c.126C>A (p.Asp42Glu)	Hypercholanemia, familial 1 [RCV001165588]	uncertain significance	9	101371279	101371279	Human	1	name
10045024	CV189039	single nucleotide variant	NM_001701.4(BAAT):c.761C>T (p.Thr254Met)	Bile acid conjugation defect 1 [RCV003984825]\|Hypercholanemia, familial 1 [RCV000333195]\|not provided [RCV000171425]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	9	101362924	101362924	Human	2	name
156414672	CV1982927	single nucleotide variant	NM_001701.4(BAAT):c.530G>A (p.Arg177Gln)	not provided [RCV002609311]	uncertain significance	9	101368259	101368259	Human		name
155935226	CV2225527	single nucleotide variant	NM_001701.4(BAAT):c.355G>A (p.Ala119Thr)	BAAT-related disorder [RCV004731498]\|not specified [RCV004100914]	likely benign\|uncertain significance	9	101371050	101371050	Human	1	name , trait , alternate_id
155983989	CV2241067	single nucleotide variant	NM_001701.4(BAAT):c.412A>G (p.Thr138Ala)	not specified [RCV004104110]	uncertain significance	9	101370993	101370993	Human		name
156232233	CV2245146	single nucleotide variant	NM_001701.4(BAAT):c.436C>T (p.Arg146Cys)	not specified [RCV004106931]	uncertain significance	9	101370969	101370969	Human		name
156032116	CV2274990	single nucleotide variant	NM_001701.4(BAAT):c.868T>A (p.Leu290Met)	not specified [RCV004135035]	uncertain significance	9	101362817	101362817	Human		name
156219816	CV2393641	single nucleotide variant	NM_001701.4(BAAT):c.947C>T (p.Ala316Val)	not specified [RCV004231451]	uncertain significance	9	101362738	101362738	Human		name
11543031	CV253249	single nucleotide variant	NM_001701.4(BAAT):c.911T>C (p.Val304Ala)	Hypercholanemia, familial 1 [RCV000263074]\|not provided [RCV002519910]\|not specified [RCV000241923]	benign\|likely benign	9	101362774	101362774	Human	1	name
11549095	CV253250	single nucleotide variant	NM_001701.4(BAAT):c.602G>C (p.Arg201Pro)	Hypercholanemia, familial 1 [RCV000380711]\|not provided [RCV001540932]\|not specified [RCV000249969]	benign\|likely benign	9	101368187	101368187	Human	1	name
11643331	CV268785	single nucleotide variant	NM_001701.4(BAAT):c.511G>A (p.Gly171Ser)	not provided [RCV000390801]	uncertain significance	9	101368278	101368278	Human		name
11640952	CV270353	single nucleotide variant	NM_001701.4(BAAT):c.529C>T (p.Arg177Trp)	not provided [RCV000348210]	uncertain significance	9	101368260	101368260	Human		name
401725566	CV2721833	single nucleotide variant	NM_001701.4(BAAT):c.665C>A (p.Pro222Gln)	not specified [RCV004326348]	uncertain significance	9	101368124	101368124	Human		name
11640417	CV272700	single nucleotide variant	NM_001701.4(BAAT):c.602G>A (p.Arg201His)	BAAT-related disorder [RCV003940053]\|not provided [RCV005090386]\|not specified [RCV000338594]	benign\|likely benign	9	101368187	101368187	Human	1	name , trait , alternate_id
11580241	CV273834	single nucleotide variant	NM_001701.4(BAAT):c.409G>A (p.Val137Ile)	BAAT-related disorder [RCV003930175]\|Hypercholanemia, familial 1 [RCV000327484]\|not provided [RCV000887677]\|not specified [RCV000373613]	benign\|likely benign\|uncertain significance	9	101370996	101370996	Human	2	name , trait , alternate_id
11638157	CV274187	single nucleotide variant	NM_001701.4(BAAT):c.997A>G (p.Ser333Gly)	BAAT-related disorder [RCV003957510]\|Hypercholanemia, familial 1 [RCV001167698]\|not provided [RCV003565397]\|not specified [RCV000298365]	benign\|likely benign	9	101362688	101362688	Human	2	name , trait , alternate_id
11638958	CV275188	single nucleotide variant	NM_001701.4(BAAT):c.551G>A (p.Arg184His)	not provided [RCV000312992]	uncertain significance	9	101368238	101368238	Human		name
401902862	CV2799727	single nucleotide variant	NM_001701.4(BAAT):c.601C>T (p.Arg201Cys)	BAAT-related disorder [RCV003419112]	uncertain significance	9	101368188	101368188	Human		name , trait , alternate_id
401961762	CV2844084	single nucleotide variant	NM_001701.4(BAAT):c.457C>T (p.Leu153Phe)	not provided [RCV003481924]	uncertain significance	9	101370948	101370948	Human		name
11609493	CV306254	single nucleotide variant	NM_001701.4(BAAT):c.797T>C (p.Ile266Thr)	Hypercholanemia, familial [RCV000368333]\|not provided [RCV000733513]\|not specified [RCV004601164]	conflicting interpretations of pathogenicity\|uncertain significance	9	101362888	101362888	Human	1	name
11599975	CV315685	single nucleotide variant	NM_001701.4(BAAT):c.473G>T (p.Gly158Val)	Hypercholanemia, familial 1 [RCV000269862]	uncertain significance	9	101368316	101368316	Human	1	name
11610639	CV315686	single nucleotide variant	NM_001701.4(BAAT):c.350A>G (p.Lys117Arg)	Hypercholanemia, familial 1 [RCV000384426]\|not provided [RCV000968158]\|not specified [RCV004596170]	benign\|likely benign	9	101371055	101371055	Human	1	name
405690945	CV3290738	single nucleotide variant	NM_001701.4(BAAT):c.305A>T (p.Gln102Leu)	not specified [RCV004423651]	uncertain significance	9	101371100	101371100	Human		name
405690951	CV3290739	single nucleotide variant	NM_001701.4(BAAT):c.443G>A (p.Arg148Gln)	not specified [RCV004423652]	uncertain significance	9	101370962	101370962	Human		name
405866684	CV3401057	single nucleotide variant	NM_001701.4(BAAT):c.697T>C (p.Ser233Pro)	Bile acid conjugation defect 1 [RCV004577173]	uncertain significance	9	101362988	101362988	Human	1	name
8601076	CV34153	single nucleotide variant	NM_001701.4(BAAT):c.967A>G (p.Ile323Val)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000020464]	pathogenic\|not provided	9	101362718	101362718	Human	1	name
407485919	CV3423727	single nucleotide variant	NM_001701.4(BAAT):c.863A>T (p.Asn288Ile)	not specified [RCV004603492]	uncertain significance	9	101362822	101362822	Human		name
407485980	CV3423739	single nucleotide variant	NM_001701.4(BAAT):c.442C>G (p.Arg148Gly)	not specified [RCV004603503]	uncertain significance	9	101370963	101370963	Human		name
407486041	CV3423749	single nucleotide variant	NM_001701.4(BAAT):c.469G>C (p.Glu157Gln)	not specified [RCV004603513]	uncertain significance	9	101368320	101368320	Human		name
408366462	CV3510604	single nucleotide variant	NM_001701.4(BAAT):c.329T>C (p.Leu110Ser)	BAAT-related disorder [RCV004756734]	uncertain significance	9	101371076	101371076	Human		name , trait , alternate_id
597701673	CV3625158	single nucleotide variant	NM_001701.4(BAAT):c.452T>G (p.Leu151Arg)	not specified [RCV004885695]	uncertain significance	9	101370953	101370953	Human		name
597701087	CV3634255	single nucleotide variant	NM_001701.4(BAAT):c.703T>C (p.Cys235Arg)	not specified [RCV004885715]	uncertain significance	9	101362982	101362982	Human		name
597932877	CV3844569	single nucleotide variant	NM_001701.4(BAAT):c.437G>A (p.Arg146His)	not provided [RCV005186076]	uncertain significance	9	101370968	101370968	Human		name
598233877	CV3929929	single nucleotide variant	NM_001701.4(BAAT):c.428G>A (p.Arg143Gln)	not specified [RCV005295630]	uncertain significance	9	101370977	101370977	Human		name
598233896	CV3929940	single nucleotide variant	NM_001701.4(BAAT):c.652C>T (p.Leu218Phe)	not specified [RCV005295633]	uncertain significance	9	101368137	101368137	Human		name
598267873	CV3929960	single nucleotide variant	NM_001701.4(BAAT):c.501T>A (p.Phe167Leu)	not specified [RCV005302262]	uncertain significance	9	101368288	101368288	Human		name
598267938	CV3929982	single nucleotide variant	NM_001701.4(BAAT):c.764T>G (p.Val255Gly)	not specified [RCV005302275]	uncertain significance	9	101362921	101362921	Human		name
13524108	CV489049	single nucleotide variant	NM_001701.4(BAAT):c.341T>A (p.Val114Glu)	BAAT-related disorder [RCV003935593]\|not provided [RCV000593851]	likely benign\|uncertain significance	9	101371064	101371064	Human	1	name , trait , alternate_id
13522928	CV491984	single nucleotide variant	NM_001701.4(BAAT):c.851T>G (p.Leu284Ter)	Bile acid conjugation defect 1 [RCV002483627]\|not provided [RCV000592369]	uncertain significance	9	101362834	101362834	Human	1	name
13832882	CV584107	single nucleotide variant	NM_001701.4(BAAT):c.992T>C (p.Ile331Thr)	not provided [RCV000727974]	uncertain significance	9	101362693	101362693	Human		name
13833480	CV584715	single nucleotide variant	NM_001701.4(BAAT):c.685G>A (p.Val229Ile)	BAAT-related disorder [RCV003953300]\|Bile acid conjugation defect 1 [RCV002485862]\|not provided [RCV000728753]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	101363000	101363000	Human	1	name , trait , alternate_id
13835050	CV586304	single nucleotide variant	NM_001701.4(BAAT):c.403C>G (p.Pro135Ala)	BAAT-related disorder [RCV003908039]\|not provided [RCV000730743]	likely benign\|uncertain significance	9	101371002	101371002	Human	1	name , trait , alternate_id
13835630	CV586893	single nucleotide variant	NM_001701.4(BAAT):c.782A>G (p.Asn261Ser)	not provided [RCV000731488]	uncertain significance	9	101362903	101362903	Human		name
13837182	CV588468	single nucleotide variant	NM_001701.4(BAAT):c.953G>A (p.Gly318Glu)	not provided [RCV000733514]	uncertain significance	9	101362732	101362732	Human		name
8633154	CV88367	single nucleotide variant	NM_001701.3(BAAT):c.619G>A (p.Asp207Asn)	Malignant melanoma [RCV000068459]	not provided	9	101368170	101368170	Human		name
28874985	CV900661	single nucleotide variant	NM_001701.4(BAAT):c.390G>T (p.Arg130Ser)	Hypercholanemia, familial 1 [RCV001165586]\|not specified [RCV005232140]	uncertain significance	9	101371015	101371015	Human	1	name
126909859	CV1036479	single nucleotide variant	NM_001701.4(BAAT):c.1156G>A (p.Gly386Arg)	Bile acid conjugation defect 1 [RCV001353081]	pathogenic	9	101362529	101362529	Human	1	name
10052123	CV194361	single nucleotide variant	NM_001701.4(BAAT):c.1127C>T (p.Thr376Met)	not provided [RCV000178168]	uncertain significance	9	101362558	101362558	Human		name
156320553	CV2197337	single nucleotide variant	NM_001701.4(BAAT):c.1126A>G (p.Thr376Ala)	not specified [RCV004081080]	uncertain significance	9	101362559	101362559	Human		name
329370024	CV2461315	single nucleotide variant	NM_001701.4(BAAT):c.1055G>C (p.Trp352Ser)	not specified [RCV004267483]	uncertain significance	9	101362630	101362630	Human		name
401724641	CV2714912	single nucleotide variant	NM_001701.4(BAAT):c.1240G>A (p.Val414Met)	not specified [RCV004322245]	likely benign	9	101362445	101362445	Human		name
11642400	CV274609	single nucleotide variant	NM_001701.4(BAAT):c.1120G>A (p.Ala374Thr)	not provided [RCV000374790]	uncertain significance	9	101362565	101362565	Human		name
11608486	CV310361	single nucleotide variant	NM_001701.4(BAAT):c.1135G>A (p.Asp379Asn)	Hypercholanemia, familial 1 [RCV000355547]	uncertain significance	9	101362550	101362550	Human	1	name
405690933	CV3290736	single nucleotide variant	NM_001701.4(BAAT):c.1205T>A (p.Ile402Asn)	not specified [RCV004423649]	uncertain significance	9	101362480	101362480	Human		name
407485859	CV3423716	single nucleotide variant	NM_001701.4(BAAT):c.1030C>A (p.Leu344Met)	not specified [RCV004603482]	uncertain significance	9	101362655	101362655	Human		name
596932440	CV3539060	single nucleotide variant	NM_001701.4(BAAT):c.1103A>G (p.Tyr368Cys)	not provided [RCV004793186]	uncertain significance	9	101362582	101362582	Human		name
598267900	CV3929970	single nucleotide variant	NM_001701.4(BAAT):c.1090A>G (p.Ile364Val)	not specified [RCV005302267]	uncertain significance	9	101362595	101362595	Human		name
13520220	CV491986	single nucleotide variant	NM_001701.4(BAAT):c.1056G>A (p.Trp352Ter)	not provided [RCV000598465]	uncertain significance	9	101362629	101362629	Human		name
13516756	CV492384	single nucleotide variant	NM_001701.4(BAAT):c.1009G>A (p.Ala337Thr)	not provided [RCV000595927]\|not specified [RCV004024809]	uncertain significance	9	101362676	101362676	Human		name
13837352	CV588641	single nucleotide variant	NM_001701.4(BAAT):c.1135G>C (p.Asp379His)	BAAT-related disorder [RCV004756028]\|not provided [RCV000733747]	uncertain significance	9	101362550	101362550	Human	1	name , trait , alternate_id
14693832	CV620313	single nucleotide variant	NM_001701.4(BAAT):c.1186G>T (p.Glu396Ter)	Hypercholanemia, familial 1 [RCV000779568]	uncertain significance	9	101362499	101362499	Human		name
8626624	CV81768	single nucleotide variant	NM_001701.3(BAAT):c.1108C>T (p.Pro370Ser)	Malignant melanoma [RCV000061846]	not provided	9	101362577	101362577	Human		name
28881678	CV900658	single nucleotide variant	NM_001701.4(BAAT):c.1039C>T (p.His347Tyr)	Hypercholanemia, familial 1 [RCV001167697]	uncertain significance	9	101362646	101362646	Human	1	name
405288707	CV3193698	microsatellite	NM_001701.4(BAAT):c.453_454del (p.Phe152fs)	BAAT-related disorder [RCV003982704]	uncertain significance	9	101370951	101370952	Human		name , trait , alternate_id
13518111	CV490757	indel	NM_001701.4(BAAT):c.58_59delinsAA (p.Arg20Lys)	not provided [RCV000597052]	uncertain significance	9	101371346	101371347	Human		name

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