Abca5 Variant Search Result - Rat Genome Database

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201 records found for search term Abca5

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405291093	CV3203948	single nucleotide variant	NM_172232.4(ABCA5):c.788+8A>C	ABCA5-related disorder [RCV003927362]	likely benign	17	69306717	69306717	Human		name , trait , alternate_id
15196827	CV760480	single nucleotide variant	NM_172232.4(ABCA5):c.308-5T>C	ABCA5-related disorder [RCV003932992]\|not provided [RCV000911806]	likely benign	17	69309428	69309428	Human	1	name , trait , alternate_id
8696151	CV143229	single nucleotide variant	NM_172232.4(ABCA5):c.4320+1G>C	Gingival fibromatosis-hypertrichosis syndrome [RCV000128545]\|Inborn genetic diseases [RCV000210729]	pathogenic\|likely pathogenic	17	69253793	69253793	Human	2	name
405290736	CV3197127	single nucleotide variant	NM_172232.4(ABCA5):c.3859-4T>C	ABCA5-related disorder [RCV003984689]	benign	17	69255854	69255854	Human		name , trait , alternate_id
405272348	CV3199287	single nucleotide variant	NM_172232.4(ABCA5):c.4415+3G>A	ABCA5-related disorder [RCV003914237]	likely benign	17	69253570	69253570	Human	26	name , trait , alternate_id
405255831	CV3210848	duplication	NM_172232.4(ABCA5):c.3144+4dup	ABCA5-related disorder [RCV003939354]\|not provided [RCV004585082]	likely benign	17	69267938	69267939	Human	1	name , trait , alternate_id
405274237	CV3211596	deletion	NM_172232.4(ABCA5):c.2595-9del	ABCA5-related disorder [RCV003951425]	likely benign	17	69274137	69274137	Human		name , trait , alternate_id
15142220	CV744998	single nucleotide variant	NM_172232.4(ABCA5):c.4535+7G>A	not provided [RCV000899633]	likely benign	17	69251740	69251740	Human		name
15171903	CV745072	single nucleotide variant	NM_172232.4(ABCA5):c.4765+3A>G	not provided [RCV000905561]	likely benign	17	69249902	69249902	Human		name
15122777	CV745098	single nucleotide variant	NM_172232.4(ABCA5):c.1120-9A>G	not provided [RCV000896297]	likely benign	17	69301295	69301295	Human		name
15169179	CV778413	single nucleotide variant	NM_172232.4(ABCA5):c.2595-8C>T	not provided [RCV000949407]	likely benign	17	69274136	69274136	Human		name
152040191	CV1669688	single nucleotide variant	NM_172232.4(ABCA5):c.3429+39G>C	not provided [RCV002224589]	uncertain significance	17	69261596	69261596	Human		name
156292864	CV2296871	single nucleotide variant	NM_172232.4(ABCA5):c.7A>G (p.Thr3Ala)	not specified [RCV004148749]	uncertain significance	17	69314409	69314409	Human		name
405278953	CV3212725	single nucleotide variant	NM_172232.4(ABCA5):c.48A>G (p.Thr16=)	ABCA5-related disorder [RCV003954748]	likely benign	17	69314368	69314368	Human		name , trait , alternate_id
407464688	CV3443644	single nucleotide variant	NM_172232.4(ABCA5):c.13A>G (p.Ile5Val)	not specified [RCV004635144]	uncertain significance	17	69314403	69314403	Human		name
401914792	CV2808277	single nucleotide variant	NM_172232.4(ABCA5):c.309C>T (p.Val103=)	not provided [RCV003428432]	likely benign	17	69309422	69309422	Human		name
405790440	CV3266681	single nucleotide variant	NM_172232.4(ABCA5):c.83C>G (p.Thr28Ser)	not specified [RCV004399504]	uncertain significance	17	69314333	69314333	Human		name
598244111	CV3977234	single nucleotide variant	NM_172232.4(ABCA5):c.41C>T (p.Thr14Ile)	not specified [RCV005344816]	uncertain significance	17	69314375	69314375	Human		name
15192653	CV740991	single nucleotide variant	NM_172232.4(ABCA5):c.384T>C (p.Gly128=)	ABCA5-related disorder [RCV003913005]\|not provided [RCV000910606]	benign	17	69309347	69309347	Human	1	name , trait , alternate_id
156081743	CV2384778	single nucleotide variant	NM_172232.4(ABCA5):c.170A>C (p.Lys57Thr)	not specified [RCV004232541]	uncertain significance	17	69313229	69313229	Human		name
401728374	CV2686032	single nucleotide variant	NM_172232.4(ABCA5):c.293A>G (p.Asp98Gly)	not specified [RCV004297047]	uncertain significance	17	69313106	69313106	Human		name
401878972	CV2754906	single nucleotide variant	NM_172232.4(ABCA5):c.269G>A (p.Ser90Asn)	not specified [RCV004341378]	likely benign	17	69313130	69313130	Human		name
405288769	CV3209930	single nucleotide variant	NM_172232.4(ABCA5):c.2337G>A (p.Thr779=)	ABCA5-related disorder [RCV003961421]	likely benign	17	69284008	69284008	Human		name , trait , alternate_id
405270721	CV3212051	single nucleotide variant	NM_172232.4(ABCA5):c.1663A>C (p.Arg555=)	ABCA5-related disorder [RCV003949433]	likely benign	17	69289981	69289981	Human		name , trait , alternate_id
405721021	CV3255844	single nucleotide variant	NM_172232.4(ABCA5):c.135G>T (p.Trp45Cys)	not specified [RCV004388801]	uncertain significance	17	69313264	69313264	Human		name
597779459	CV3673325	single nucleotide variant	NM_172232.4(ABCA5):c.289A>G (p.Thr97Ala)	not specified [RCV004930383]	likely benign	17	69313110	69313110	Human		name
597778599	CV3677544	single nucleotide variant	NM_172232.4(ABCA5):c.187A>G (p.Asn63Asp)	not specified [RCV004930171]	likely benign	17	69313212	69313212	Human		name
617153157	CV4021132	single nucleotide variant	NM_172232.4(ABCA5):c.1188A>G (p.Leu396=)	not provided [RCV005428885]	likely benign	17	69301218	69301218	Human		name
15181794	CV715655	single nucleotide variant	NM_172232.4(ABCA5):c.1479T>C (p.Asn493=)	not provided [RCV000974479]	likely benign	17	69294671	69294671	Human		name
15184906	CV727390	single nucleotide variant	NM_172232.4(ABCA5):c.1584T>C (p.Cys528=)	not provided [RCV000886552]	likely benign	17	69291238	69291238	Human		name
15150494	CV740988	single nucleotide variant	NM_172232.4(ABCA5):c.2655T>C (p.Ser885=)	ABCA5-related disorder [RCV003922968]\|not provided [RCV000901165]	benign	17	69274068	69274068	Human	1	name , trait , alternate_id
15114941	CV740989	single nucleotide variant	NM_172232.4(ABCA5):c.1485G>A (p.Glu495=)	not provided [RCV000894940]	likely benign	17	69294665	69294665	Human		name
15141669	CV740990	single nucleotide variant	NM_172232.4(ABCA5):c.1062G>A (p.Ser354=)	ABCA5-related disorder [RCV003910720]\|not provided [RCV000899537]	likely benign	17	69302775	69302775	Human	1	name , trait , alternate_id
15126302	CV756094	single nucleotide variant	NM_172232.4(ABCA5):c.1056C>T (p.Pro352=)	not provided [RCV000919300]	likely benign	17	69302781	69302781	Human		name
15180267	CV771780	single nucleotide variant	NM_172232.4(ABCA5):c.1233C>T (p.Val411=)	not provided [RCV000929842]	likely benign	17	69301173	69301173	Human		name
15129830	CV785720	single nucleotide variant	NM_172232.4(ABCA5):c.2073G>A (p.Leu691=)	not provided [RCV000980943]	likely benign	17	69286280	69286280	Human		name
156064634	CV2240242	single nucleotide variant	NM_172232.4(ABCA5):c.832T>C (p.Ser278Pro)	not specified [RCV004112810]	uncertain significance	17	69304767	69304767	Human		name
156036844	CV2250034	single nucleotide variant	NM_172232.4(ABCA5):c.913C>T (p.Leu305Phe)	not specified [RCV004116864]	uncertain significance	17	69304686	69304686	Human		name
156168638	CV2320102	single nucleotide variant	NM_172232.4(ABCA5):c.767G>T (p.Gly256Val)	not specified [RCV004167950]	uncertain significance	17	69306746	69306746	Human		name
329356677	CV2460469	single nucleotide variant	NM_172232.4(ABCA5):c.601A>G (p.Lys201Glu)	not specified [RCV004268766]	uncertain significance	17	69306912	69306912	Human		name
401771967	CV2723007	single nucleotide variant	NM_172232.4(ABCA5):c.743T>A (p.Ile248Lys)	not specified [RCV004327179]	uncertain significance	17	69306770	69306770	Human		name
401884053	CV2765948	single nucleotide variant	NM_172232.4(ABCA5):c.442G>A (p.Val148Ile)	not specified [RCV004337973]	uncertain significance	17	69309289	69309289	Human		name
401878827	CV2770320	single nucleotide variant	NM_172232.4(ABCA5):c.508T>G (p.Ser170Ala)	not specified [RCV004357984]	uncertain significance	17	69308330	69308330	Human		name
401886173	CV2774842	single nucleotide variant	NM_172232.4(ABCA5):c.434T>C (p.Met145Thr)	not specified [RCV004343927]	uncertain significance	17	69309297	69309297	Human		name
405275955	CV3193215	single nucleotide variant	NM_172232.4(ABCA5):c.532G>A (p.Ala178Thr)	ABCA5-related disorder [RCV003974381]	benign	17	69308306	69308306	Human	4	name , trait , alternate_id
405274988	CV3199940	single nucleotide variant	NM_172232.4(ABCA5):c.3393A>G (p.Leu1131=)	ABCA5-related disorder [RCV003973965]	benign	17	69261671	69261671	Human		name , trait , alternate_id
405288179	CV3200535	single nucleotide variant	NM_172232.4(ABCA5):c.3265T>C (p.Leu1089=)	ABCA5-related disorder [RCV003982248]	benign	17	69264785	69264785	Human		name , trait , alternate_id
405258248	CV3203164	single nucleotide variant	NM_172232.4(ABCA5):c.4521G>A (p.Val1507=)	ABCA5-related disorder [RCV003941775]	likely benign	17	69251761	69251761	Human		name , trait , alternate_id
405283486	CV3217175	single nucleotide variant	NM_172232.4(ABCA5):c.3549G>A (p.Leu1183=)	ABCA5-related disorder [RCV003979273]	benign	17	69261140	69261140	Human		name , trait , alternate_id
405289732	CV3219697	single nucleotide variant	NM_172232.4(ABCA5):c.4332T>G (p.Ala1444=)	ABCA5-related disorder [RCV003961961]	likely benign	17	69253656	69253656	Human		name , trait , alternate_id
405790547	CV3266719	single nucleotide variant	NM_172232.4(ABCA5):c.859G>C (p.Ala287Pro)	not specified [RCV004399542]	uncertain significance	17	69304740	69304740	Human		name
405778512	CV3270273	single nucleotide variant	NM_172232.4(ABCA5):c.599C>T (p.Thr200Ile)	not specified [RCV004397191]	uncertain significance	17	69306914	69306914	Human		name
405778976	CV3270351	single nucleotide variant	NM_172232.4(ABCA5):c.667A>G (p.Ile223Val)	not specified [RCV004397269]	uncertain significance	17	69306846	69306846	Human		name
405790237	CV3270447	single nucleotide variant	NM_172232.4(ABCA5):c.799G>A (p.Val267Ile)	not specified [RCV004399435]	uncertain significance	17	69304800	69304800	Human		name
597727840	CV3669998	single nucleotide variant	NM_172232.4(ABCA5):c.785T>C (p.Phe262Ser)	not specified [RCV004919500]	uncertain significance	17	69306728	69306728	Human		name
597728158	CV3670086	single nucleotide variant	NM_172232.4(ABCA5):c.863C>T (p.Ser288Phe)	Gingival fibromatosis-hypertrichosis syndrome [RCV005358172]\|not specified [RCV004919538]	uncertain significance	17	69304736	69304736	Human	1	name
597779676	CV3673522	single nucleotide variant	NM_172232.4(ABCA5):c.940G>T (p.Ala314Ser)	not specified [RCV004930441]	uncertain significance	17	69302897	69302897	Human		name
597780398	CV3677677	single nucleotide variant	NM_172232.4(ABCA5):c.715C>G (p.His239Asp)	not specified [RCV004930650]	uncertain significance	17	69306798	69306798	Human		name
597754978	CV3677758	single nucleotide variant	NM_172232.4(ABCA5):c.419G>A (p.Arg140His)	not specified [RCV004924503]	uncertain significance	17	69309312	69309312	Human		name
597780776	CV3681116	single nucleotide variant	NM_172232.4(ABCA5):c.523G>A (p.Val175Ile)	not specified [RCV004930648]	uncertain significance	17	69308315	69308315	Human		name
598217963	CV3970396	single nucleotide variant	NM_172232.4(ABCA5):c.410A>G (p.Tyr137Cys)	not specified [RCV005340093]	uncertain significance	17	69309321	69309321	Human		name
598204515	CV3974146	single nucleotide variant	NM_172232.4(ABCA5):c.982G>A (p.Gly328Arg)	not specified [RCV005337438]	uncertain significance	17	69302855	69302855	Human		name
598205025	CV3974257	single nucleotide variant	NM_172232.4(ABCA5):c.688T>G (p.Ser230Ala)	not specified [RCV005337542]	uncertain significance	17	69306825	69306825	Human		name
598202713	CV3977606	single nucleotide variant	NM_172232.4(ABCA5):c.440C>T (p.Pro147Leu)	not specified [RCV005337145]	uncertain significance	17	69309291	69309291	Human		name
15152608	CV727387	single nucleotide variant	NM_172232.4(ABCA5):c.3966T>C (p.Cys1322=)	not provided [RCV000879841]	benign	17	69255743	69255743	Human		name
15190835	CV727391	single nucleotide variant	NM_172232.4(ABCA5):c.781G>T (p.Ala261Ser)	not provided [RCV000888210]	likely benign	17	69306732	69306732	Human		name
15140906	CV756092	single nucleotide variant	NM_172232.4(ABCA5):c.3267G>A (p.Leu1089=)	not provided [RCV000921753]	benign	17	69264783	69264783	Human		name
15105110	CV756095	single nucleotide variant	NM_172232.4(ABCA5):c.961T>C (p.Phe321Leu)	ABCA5-related disorder [RCV003913060]\|not provided [RCV000915484]	benign	17	69302876	69302876	Human	1	name , trait , alternate_id
15105115	CV756096	single nucleotide variant	NM_172232.4(ABCA5):c.353C>T (p.Ser118Phe)	ABCA5-related disorder [RCV003913061]\|not provided [RCV000915485]	benign\|likely benign	17	69309378	69309378	Human	1	name , trait , alternate_id
8628064	CV83208	single nucleotide variant	NM_172232.3(ABCA5):c.733G>A (p.Glu245Lys)	Malignant melanoma [RCV000063288]	not provided	17	69306780	69306780	Human		name
40815348	CV971089	single nucleotide variant	NM_172232.4(ABCA5):c.569A>G (p.Asn190Ser)	Gingival fibromatosis-hypertrichosis syndrome [RCV001262669]\|not provided [RCV004704513]	likely benign	17	69306944	69306944	Human	1	name
126913685	CV1038617	single nucleotide variant	NM_172232.4(ABCA5):c.1951C>T (p.His651Tyr)	not provided [RCV001357600]\|not specified [RCV004034487]	uncertain significance	17	69287703	69287703	Human		name
156086988	CV2205774	single nucleotide variant	NM_172232.4(ABCA5):c.1006G>A (p.Val336Met)	not specified [RCV004075822]	uncertain significance	17	69302831	69302831	Human		name
156186099	CV2236122	single nucleotide variant	NM_172232.4(ABCA5):c.2237A>G (p.Tyr746Cys)	not specified [RCV004114268]	uncertain significance	17	69285933	69285933	Human		name
156082881	CV2249162	single nucleotide variant	NM_172232.4(ABCA5):c.1024G>A (p.Gly342Ser)	not specified [RCV004118211]	uncertain significance	17	69302813	69302813	Human		name
155948827	CV2273551	single nucleotide variant	NM_172232.4(ABCA5):c.1823A>G (p.Lys608Arg)	not specified [RCV004134082]	uncertain significance	17	69289256	69289256	Human		name
155940953	CV2294167	single nucleotide variant	NM_172232.4(ABCA5):c.2740A>G (p.Ser914Gly)	not specified [RCV004149532]	uncertain significance	17	69273983	69273983	Human		name
156105339	CV2307341	single nucleotide variant	NM_172232.4(ABCA5):c.2519G>C (p.Trp840Ser)	not specified [RCV004166029]	uncertain significance	17	69277716	69277716	Human		name
155986367	CV2345500	single nucleotide variant	NM_172232.4(ABCA5):c.1309C>G (p.Pro437Ala)	not specified [RCV004198265]	uncertain significance	17	69297318	69297318	Human		name
156343116	CV2364065	single nucleotide variant	NM_172232.4(ABCA5):c.2819C>T (p.Thr940Met)	not specified [RCV004221449]	uncertain significance	17	69271235	69271235	Human		name
156161008	CV2371346	single nucleotide variant	NM_172232.4(ABCA5):c.2038G>T (p.Ala680Ser)	not specified [RCV004223352]	uncertain significance	17	69287616	69287616	Human		name
156065576	CV2376099	single nucleotide variant	NM_172232.4(ABCA5):c.1784T>C (p.Val595Ala)	not specified [RCV004220333]	uncertain significance	17	69289295	69289295	Human		name
243057182	CV2419417	single nucleotide variant	NM_172232.4(ABCA5):c.2569C>T (p.Arg857Cys)	Gingival fibromatosis-hypertrichosis syndrome [RCV003156049]	likely pathogenic	17	69277666	69277666	Human	1	name
329388239	CV2468805	single nucleotide variant	NM_172232.4(ABCA5):c.1343A>G (p.Glu448Gly)	not specified [RCV004280120]	uncertain significance	17	69297284	69297284	Human		name
401780377	CV2673997	single nucleotide variant	NM_172232.4(ABCA5):c.2509A>G (p.Met837Val)	not specified [RCV004293365]	uncertain significance	17	69277726	69277726	Human		name
401753399	CV2674879	single nucleotide variant	NM_172232.4(ABCA5):c.1151C>G (p.Ala384Gly)	not specified [RCV004294148]	uncertain significance	17	69301255	69301255	Human		name
401756074	CV2686274	single nucleotide variant	NM_172232.4(ABCA5):c.1513T>C (p.Tyr505His)	not specified [RCV004297358]	uncertain significance	17	69291309	69291309	Human		name
401774230	CV2691564	single nucleotide variant	NM_172232.4(ABCA5):c.2782C>G (p.Leu928Val)	not specified [RCV004305394]	uncertain significance	17	69271272	69271272	Human		name
401726924	CV2691901	single nucleotide variant	NM_172232.4(ABCA5):c.1512A>G (p.Ile504Met)	not specified [RCV004299640]	uncertain significance	17	69291310	69291310	Human		name
401775481	CV2692389	single nucleotide variant	NM_172232.4(ABCA5):c.2802C>G (p.Ser934Arg)	not specified [RCV004310365]	uncertain significance	17	69271252	69271252	Human		name
401749495	CV2694661	single nucleotide variant	NM_172232.4(ABCA5):c.1231G>A (p.Val411Ile)	not specified [RCV004298769]	uncertain significance	17	69301175	69301175	Human		name
401760197	CV2709649	single nucleotide variant	NM_172232.4(ABCA5):c.1747A>G (p.Ile583Val)	not specified [RCV004318865]	uncertain significance	17	69289897	69289897	Human		name
401738262	CV2711731	single nucleotide variant	NM_172232.4(ABCA5):c.1946C>T (p.Ser649Phe)	not specified [RCV004309391]	uncertain significance	17	69287708	69287708	Human		name
401748674	CV2713231	single nucleotide variant	NM_172232.4(ABCA5):c.1936G>T (p.Asp646Tyr)	not specified [RCV004316763]	uncertain significance	17	69287718	69287718	Human		name
401859895	CV2768387	single nucleotide variant	NM_172232.4(ABCA5):c.1824A>T (p.Lys608Asn)	not specified [RCV004350638]	uncertain significance	17	69289255	69289255	Human		name
405276145	CV3193245	single nucleotide variant	NM_172232.4(ABCA5):c.1451A>G (p.Gln484Arg)	ABCA5-related disorder [RCV003974411]	benign	17	69294699	69294699	Human		name , trait , alternate_id
405719773	CV3255662	single nucleotide variant	NM_172232.4(ABCA5):c.1050T>G (p.Ser350Arg)	not specified [RCV004388619]	uncertain significance	17	69302787	69302787	Human		name
405720106	CV3255704	single nucleotide variant	NM_172232.4(ABCA5):c.1067T>A (p.Val356Glu)	not specified [RCV004388661]	uncertain significance	17	69302770	69302770	Human		name
405720283	CV3255749	single nucleotide variant	NM_172232.4(ABCA5):c.1229A>G (p.Tyr410Cys)	not specified [RCV004388706]	uncertain significance	17	69301177	69301177	Human		name
405789303	CV3266190	single nucleotide variant	NM_172232.4(ABCA5):c.2384A>T (p.Asp795Val)	not specified [RCV004399200]	uncertain significance	17	69283961	69283961	Human		name
405789648	CV3266272	single nucleotide variant	NM_172232.4(ABCA5):c.2542G>A (p.Ala848Thr)	not specified [RCV004399282]	uncertain significance	17	69277693	69277693	Human		name
405788203	CV3269774	single nucleotide variant	NM_172232.4(ABCA5):c.1921C>G (p.Pro641Ala)	not specified [RCV004398950]	uncertain significance	17	69287733	69287733	Human		name
405788935	CV3269930	single nucleotide variant	NM_172232.4(ABCA5):c.2045G>A (p.Arg682Lys)	not specified [RCV004399106]	uncertain significance	17	69286308	69286308	Human		name
405788993	CV3269945	single nucleotide variant	NM_172232.4(ABCA5):c.2125C>T (p.Arg709Cys)	not specified [RCV004399121]	uncertain significance	17	69286228	69286228	Human		name
405741139	CV3273148	single nucleotide variant	NM_172232.4(ABCA5):c.1456A>G (p.Thr486Ala)	not specified [RCV004391356]	uncertain significance	17	69294694	69294694	Human		name
405774540	CV3273359	single nucleotide variant	NM_172232.4(ABCA5):c.1620A>G (p.Ile540Met)	not specified [RCV004396523]	uncertain significance	17	69290024	69290024	Human		name
407464011	CV3433424	single nucleotide variant	NM_172232.4(ABCA5):c.2992A>G (p.Thr998Ala)	not specified [RCV004634974]	uncertain significance	17	69270651	69270651	Human		name
407464356	CV3433522	single nucleotide variant	NM_172232.4(ABCA5):c.1787A>G (p.Gln596Arg)	not specified [RCV004635060]	uncertain significance	17	69289292	69289292	Human		name
407514373	CV3440188	single nucleotide variant	NM_172232.4(ABCA5):c.2134A>G (p.Met712Val)	not specified [RCV004627576]	uncertain significance	17	69286036	69286036	Human		name
407513438	CV3443734	single nucleotide variant	NM_172232.4(ABCA5):c.2848G>A (p.Val950Met)	not specified [RCV004627224]	uncertain significance	17	69271206	69271206	Human		name
407513807	CV3443838	single nucleotide variant	NM_172232.4(ABCA5):c.2926A>G (p.Met976Val)	not specified [RCV004627319]	uncertain significance	17	69270717	69270717	Human		name
407514085	CV3443936	single nucleotide variant	NM_172232.4(ABCA5):c.1071G>C (p.Trp357Cys)	not specified [RCV004627406]	uncertain significance	17	69302766	69302766	Human		name
407514249	CV3444039	single nucleotide variant	NM_172232.4(ABCA5):c.1772T>A (p.Ile591Lys)	not specified [RCV004627493]	uncertain significance	17	69289872	69289872	Human		name
597726754	CV3669749	single nucleotide variant	NM_172232.4(ABCA5):c.1988A>G (p.Asn663Ser)	not specified [RCV004919377]	uncertain significance	17	69287666	69287666	Human		name
597779740	CV3673572	single nucleotide variant	NM_172232.4(ABCA5):c.1090C>G (p.His364Asp)	not specified [RCV004930456]	uncertain significance	17	69302747	69302747	Human		name
597742436	CV3676699	single nucleotide variant	NM_172232.4(ABCA5):c.2911G>C (p.Val971Leu)	not specified [RCV004921881]	uncertain significance	17	69270732	69270732	Human		name
597779183	CV3676990	single nucleotide variant	NM_172232.4(ABCA5):c.2726A>C (p.His909Pro)	not specified [RCV004930312]	uncertain significance	17	69273997	69273997	Human		name
597743280	CV3677062	single nucleotide variant	NM_172232.4(ABCA5):c.1771A>G (p.Ile591Val)	not specified [RCV004922022]	likely benign	17	69289873	69289873	Human		name
597768938	CV3677185	single nucleotide variant	NM_172232.4(ABCA5):c.2837A>C (p.Asp946Ala)	not specified [RCV004927987]	uncertain significance	17	69271217	69271217	Human		name
597741543	CV3677274	single nucleotide variant	NM_172232.4(ABCA5):c.2840A>G (p.Tyr947Cys)	not specified [RCV004921696]	uncertain significance	17	69271214	69271214	Human		name
597769341	CV3677450	single nucleotide variant	NM_172232.4(ABCA5):c.1282C>T (p.Arg428Trp)	not specified [RCV004928073]	uncertain significance	17	69297345	69297345	Human		name
597757885	CV3677852	single nucleotide variant	NM_172232.4(ABCA5):c.1432A>G (p.Ile478Val)	not specified [RCV004925168]	uncertain significance	17	69297195	69297195	Human		name
597754549	CV3680940	single nucleotide variant	NM_172232.4(ABCA5):c.2065G>A (p.Gly689Arg)	not specified [RCV004924402]	uncertain significance	17	69286288	69286288	Human		name
597754792	CV3681034	single nucleotide variant	NM_172232.4(ABCA5):c.1699C>T (p.His567Tyr)	not specified [RCV004924460]	uncertain significance	17	69289945	69289945	Human		name
598232444	CV3966615	single nucleotide variant	NM_172232.4(ABCA5):c.1756A>T (p.Ile586Leu)	not specified [RCV005342596]	uncertain significance	17	69289888	69289888	Human		name
598243125	CV3966710	single nucleotide variant	NM_172232.4(ABCA5):c.2777G>A (p.Ser926Asn)	not specified [RCV005344656]	uncertain significance	17	69271277	69271277	Human		name
598203061	CV3973891	single nucleotide variant	NM_172232.4(ABCA5):c.1480G>A (p.Val494Met)	not specified [RCV005337199]	uncertain significance	17	69294670	69294670	Human		name
598203552	CV3973976	single nucleotide variant	NM_172232.4(ABCA5):c.1689G>C (p.Gln563His)	not specified [RCV005337278]	uncertain significance	17	69289955	69289955	Human		name
598204040	CV3974061	single nucleotide variant	NM_172232.4(ABCA5):c.1120G>C (p.Val374Leu)	not specified [RCV005337360]	uncertain significance	17	69301286	69301286	Human		name
598204711	CV3974185	single nucleotide variant	NM_172232.4(ABCA5):c.2771A>G (p.Asp924Gly)	not specified [RCV005337473]	uncertain significance	17	69271283	69271283	Human		name
598158964	CV3974215	single nucleotide variant	NM_172232.4(ABCA5):c.1096A>G (p.Thr366Ala)	not specified [RCV005328169]	uncertain significance	17	69302741	69302741	Human		name
598244805	CV3977362	single nucleotide variant	NM_172232.4(ABCA5):c.2840A>T (p.Tyr947Phe)	not specified [RCV005344928]	uncertain significance	17	69271214	69271214	Human		name
598245331	CV3977443	single nucleotide variant	NM_172232.4(ABCA5):c.1622A>G (p.Tyr541Cys)	not specified [RCV005345000]	uncertain significance	17	69290022	69290022	Human		name
598202339	CV3977533	single nucleotide variant	NM_172232.4(ABCA5):c.1721A>G (p.Glu574Gly)	not specified [RCV005337079]	uncertain significance	17	69289923	69289923	Human		name
15176440	CV704332	single nucleotide variant	NM_172232.4(ABCA5):c.2612T>C (p.Ile871Thr)	ABCA5-related disorder [RCV003903212]\|See cases [RCV002252271]\|not provided [RCV000950825]	benign	17	69274111	69274111	Human	1	name , trait , alternate_id
15203120	CV704333	single nucleotide variant	NM_172232.4(ABCA5):c.2302A>G (p.Asn768Asp)	ABCA5-related disorder [RCV003903321]\|not provided [RCV000958228]	benign	17	69284043	69284043	Human	1	name , trait , alternate_id
15203122	CV704334	single nucleotide variant	NM_172232.4(ABCA5):c.1405T>G (p.Ser469Ala)	ABCA5-related disorder [RCV003903322]\|not provided [RCV000958229]	benign	17	69297222	69297222	Human	1	name , trait , alternate_id
15187389	CV727388	single nucleotide variant	NM_172232.4(ABCA5):c.2537C>A (p.Thr846Lys)	not provided [RCV000887241]	likely benign	17	69277698	69277698	Human		name
15157917	CV727389	single nucleotide variant	NM_172232.4(ABCA5):c.2449G>T (p.Asp817Tyr)	not provided [RCV000880908]	likely benign	17	69277786	69277786	Human		name
15195518	CV756093	single nucleotide variant	NM_172232.4(ABCA5):c.2956A>G (p.Ile986Val)	not provided [RCV000911439]	likely benign	17	69270687	69270687	Human		name
156189031	CV2205888	single nucleotide variant	NM_172232.4(ABCA5):c.4204A>C (p.Lys1402Gln)	not specified [RCV004078325]	uncertain significance	17	69254355	69254355	Human		name
156376873	CV2206880	single nucleotide variant	NM_172232.4(ABCA5):c.3355T>C (p.Phe1119Leu)	not specified [RCV004083549]	uncertain significance	17	69261709	69261709	Human		name
156401719	CV2217599	single nucleotide variant	NM_172232.4(ABCA5):c.4339A>G (p.Met1447Val)	not specified [RCV004090122]	uncertain significance	17	69253649	69253649	Human		name
156250802	CV2232218	single nucleotide variant	NM_172232.4(ABCA5):c.3053A>C (p.Lys1018Thr)	not specified [RCV004105010]	uncertain significance	17	69268034	69268034	Human		name
156292933	CV2233498	single nucleotide variant	NM_172232.4(ABCA5):c.3316G>A (p.Val1106Ile)	not specified [RCV004099983]	uncertain significance	17	69261748	69261748	Human		name
156279308	CV2252155	single nucleotide variant	NM_172232.4(ABCA5):c.3110C>T (p.Pro1037Leu)	not specified [RCV004122175]	uncertain significance	17	69267977	69267977	Human		name
155994281	CV2277955	single nucleotide variant	NM_172232.4(ABCA5):c.4901G>A (p.Arg1634Gln)	not specified [RCV004141201]	uncertain significance	17	69247565	69247565	Human		name
156086873	CV2290004	single nucleotide variant	NM_172232.4(ABCA5):c.4530G>C (p.Gln1510His)	not specified [RCV004152434]	uncertain significance	17	69251752	69251752	Human		name
156074871	CV2291343	single nucleotide variant	NM_172232.4(ABCA5):c.4589T>G (p.Leu1530Trp)	not specified [RCV004162032]	uncertain significance	17	69250568	69250568	Human		name
155907277	CV2302184	single nucleotide variant	NM_172232.4(ABCA5):c.3278A>G (p.Tyr1093Cys)	not specified [RCV004159188]	uncertain significance	17	69264772	69264772	Human		name
156047304	CV2304332	single nucleotide variant	NM_172232.4(ABCA5):c.4381A>G (p.Thr1461Ala)	not specified [RCV004164449]	uncertain significance	17	69253607	69253607	Human		name
156061776	CV2320938	single nucleotide variant	NM_172232.4(ABCA5):c.3123G>A (p.Met1041Ile)	not specified [RCV004172742]	uncertain significance	17	69267964	69267964	Human		name
155975115	CV2327670	single nucleotide variant	NM_172232.4(ABCA5):c.3170T>G (p.Leu1057Arg)	not specified [RCV004177247]	uncertain significance	17	69264880	69264880	Human		name
156286529	CV2334940	single nucleotide variant	NM_172232.4(ABCA5):c.4633C>T (p.Arg1545Cys)	not specified [RCV004182041]	uncertain significance	17	69250524	69250524	Human		name
156070896	CV2337716	single nucleotide variant	NM_172232.4(ABCA5):c.3274C>A (p.His1092Asn)	not specified [RCV004183739]	uncertain significance	17	69264776	69264776	Human		name
156216306	CV2347975	single nucleotide variant	NM_172232.4(ABCA5):c.4663C>T (p.Pro1555Ser)	not specified [RCV004197662]	uncertain significance	17	69250494	69250494	Human		name
156134320	CV2362011	single nucleotide variant	NM_172232.4(ABCA5):c.4783A>G (p.Ile1595Val)	not specified [RCV004207777]	uncertain significance	17	69248300	69248300	Human		name
156132250	CV2373006	single nucleotide variant	NM_172232.4(ABCA5):c.3091A>G (p.Ile1031Val)	not specified [RCV004224037]	uncertain significance	17	69267996	69267996	Human		name
156036977	CV2374028	single nucleotide variant	NM_172232.4(ABCA5):c.4007G>A (p.Gly1336Asp)	not specified [RCV004227154]	uncertain significance	17	69255604	69255604	Human		name
329372810	CV2428660	single nucleotide variant	NM_172232.4(ABCA5):c.4234G>C (p.Val1412Leu)	not specified [RCV004255458]	uncertain significance	17	69254325	69254325	Human		name
329388751	CV2447831	single nucleotide variant	NM_172232.4(ABCA5):c.3500A>G (p.His1167Arg)	not specified [RCV004258605]	uncertain significance	17	69261189	69261189	Human		name
329394887	CV2457705	single nucleotide variant	NM_172232.4(ABCA5):c.4901G>C (p.Arg1634Pro)	not specified [RCV004269548]	uncertain significance	17	69247565	69247565	Human		name
329382341	CV2465183	single nucleotide variant	NM_172232.4(ABCA5):c.4589T>C (p.Leu1530Ser)	not specified [RCV004287223]	uncertain significance	17	69250568	69250568	Human		name
401765905	CV2683465	single nucleotide variant	NM_172232.4(ABCA5):c.4760A>G (p.Glu1587Gly)	not specified [RCV004288223]	uncertain significance	17	69249910	69249910	Human		name
401865640	CV2755577	single nucleotide variant	NM_172232.4(ABCA5):c.4258C>T (p.Leu1420Phe)	not specified [RCV004340154]	uncertain significance	17	69253856	69253856	Human		name
401885561	CV2768257	single nucleotide variant	NM_172232.4(ABCA5):c.3707C>T (p.Ser1236Leu)	not specified [RCV004350250]	uncertain significance	17	69259730	69259730	Human		name
405292435	CV3192444	single nucleotide variant	NM_172232.4(ABCA5):c.3743C>T (p.Thr1248Met)	ABCA5-related disorder [RCV003929709]	likely benign	17	69256272	69256272	Human		name , trait , alternate_id
405652784	CV3225953	single nucleotide variant	NM_172232.4(ABCA5):c.4315C>T (p.Arg1439Ter)	Gingival fibromatosis-hypertrichosis syndrome [RCV003989393]	likely pathogenic	17	69253799	69253799	Human	1	name
405796765	CV3262837	single nucleotide variant	NM_172232.4(ABCA5):c.3251T>A (p.Met1084Lys)	not specified [RCV004401664]	uncertain significance	17	69264799	69264799	Human		name
405796852	CV3262862	single nucleotide variant	NM_172232.4(ABCA5):c.3272T>C (p.Phe1091Ser)	not specified [RCV004401689]	uncertain significance	17	69264778	69264778	Human		name
405797028	CV3262949	single nucleotide variant	NM_172232.4(ABCA5):c.3287A>G (p.Tyr1096Cys)	not specified [RCV004401776]	uncertain significance	17	69264763	69264763	Human		name
405797313	CV3263031	single nucleotide variant	NM_172232.4(ABCA5):c.3375C>A (p.Phe1125Leu)	not specified [RCV004401858]	uncertain significance	17	69261689	69261689	Human		name
405802462	CV3263116	single nucleotide variant	NM_172232.4(ABCA5):c.3778G>T (p.Asp1260Tyr)	not specified [RCV004403926]	uncertain significance	17	69256237	69256237	Human		name
405802513	CV3263145	single nucleotide variant	NM_172232.4(ABCA5):c.3965G>T (p.Cys1322Phe)	not specified [RCV004403955]	uncertain significance	17	69255744	69255744	Human		name
405796083	CV3266468	single nucleotide variant	NM_172232.4(ABCA5):c.3002T>C (p.Ile1001Thr)	not specified [RCV004401460]	uncertain significance	17	69270641	69270641	Human		name
405777079	CV3270059	single nucleotide variant	NM_172232.4(ABCA5):c.4675C>T (p.Arg1559Cys)	not specified [RCV004396976]	uncertain significance	17	69250482	69250482	Human		name
405777566	CV3270115	single nucleotide variant	NM_172232.4(ABCA5):c.4777T>A (p.Phe1593Ile)	not specified [RCV004397032]	uncertain significance	17	69248306	69248306	Human		name
405803036	CV3273736	single nucleotide variant	NM_172232.4(ABCA5):c.4432G>T (p.Ala1478Ser)	not specified [RCV004404232]	uncertain significance	17	69251850	69251850	Human		name
405803086	CV3273761	single nucleotide variant	NM_172232.4(ABCA5):c.4529A>G (p.Gln1510Arg)	not specified [RCV004404257]	uncertain significance	17	69251753	69251753	Human		name
405803212	CV3273829	single nucleotide variant	NM_172232.4(ABCA5):c.4571T>C (p.Phe1524Ser)	not specified [RCV004404325]	uncertain significance	17	69250586	69250586	Human		name
407463705	CV3433332	single nucleotide variant	NM_172232.4(ABCA5):c.3434C>T (p.Ala1145Val)	not specified [RCV004634894]	uncertain significance	17	69261255	69261255	Human		name
407514571	CV3440262	single nucleotide variant	NM_172232.4(ABCA5):c.3398C>T (p.Thr1133Ile)	not specified [RCV004627640]	uncertain significance	17	69261666	69261666	Human		name
408393333	CV3526076	single nucleotide variant	NM_172232.4(ABCA5):c.3020C>T (p.Pro1007Leu)	Gingival fibromatosis-hypertrichosis syndrome [RCV004768454]	uncertain significance	17	69270623	69270623	Human	1	name
597743415	CV3673242	single nucleotide variant	NM_172232.4(ABCA5):c.4717A>G (p.Lys1573Glu)	not specified [RCV004922047]	uncertain significance	17	69249953	69249953	Human		name
597743938	CV3673426	single nucleotide variant	NM_172232.4(ABCA5):c.3235A>G (p.Ile1079Val)	not specified [RCV004922144]	likely benign	17	69264815	69264815	Human		name
597779875	CV3673644	single nucleotide variant	NM_172232.4(ABCA5):c.4337G>A (p.Ser1446Asn)	not specified [RCV004930488]	uncertain significance	17	69253651	69253651	Human		name
597778902	CV3676794	single nucleotide variant	NM_172232.4(ABCA5):c.4174C>A (p.Gln1392Lys)	not specified [RCV004930241]	uncertain significance	17	69254385	69254385	Human		name
597779034	CV3676891	single nucleotide variant	NM_172232.4(ABCA5):c.3130G>A (p.Ala1044Thr)	not specified [RCV004930275]	uncertain significance	17	69267957	69267957	Human		name
597769205	CV3677374	single nucleotide variant	NM_172232.4(ABCA5):c.4112A>C (p.Asp1371Ala)	not specified [RCV004928044]	uncertain significance	17	69254447	69254447	Human		name
597755378	CV3677944	single nucleotide variant	NM_172232.4(ABCA5):c.4787A>G (p.Glu1596Gly)	not specified [RCV004924605]	uncertain significance	17	69248296	69248296	Human		name
597780033	CV3680755	single nucleotide variant	NM_172232.4(ABCA5):c.3005A>G (p.Gln1002Arg)	not specified [RCV004930525]	uncertain significance	17	69270638	69270638	Human		name
597780132	CV3680839	single nucleotide variant	NM_172232.4(ABCA5):c.4124G>A (p.Cys1375Tyr)	not specified [RCV004930551]	uncertain significance	17	69254435	69254435	Human		name
597754897	CV3681094	single nucleotide variant	NM_172232.4(ABCA5):c.3362A>G (p.Tyr1121Cys)	not specified [RCV004924485]	uncertain significance	17	69261702	69261702	Human		name
598243579	CV3966799	single nucleotide variant	NM_172232.4(ABCA5):c.4028T>G (p.Ile1343Ser)	not specified [RCV005344735]	uncertain significance	17	69255583	69255583	Human		name
598244508	CV3977308	single nucleotide variant	NM_172232.4(ABCA5):c.4340T>C (p.Met1447Thr)	not specified [RCV005344880]	uncertain significance	17	69253648	69253648	Human		name
15192926	CV704331	single nucleotide variant	NM_172232.4(ABCA5):c.3475G>A (p.Gly1159Arg)	not provided [RCV000955218]	likely benign	17	69261214	69261214	Human		name
15171906	CV740985	single nucleotide variant	NM_172232.4(ABCA5):c.3943G>A (p.Ala1315Thr)	not provided [RCV000905562]	likely benign	17	69255766	69255766	Human		name
15171910	CV740986	single nucleotide variant	NM_172232.4(ABCA5):c.3778G>A (p.Asp1260Asn)	not provided [RCV000905563]	likely benign	17	69256237	69256237	Human		name
15171913	CV740987	single nucleotide variant	NM_172232.4(ABCA5):c.3517A>G (p.Ile1173Val)	not provided [RCV000905564]	likely benign	17	69261172	69261172	Human		name
152999810	CV1683370	microsatellite	NM_172232.4(ABCA5):c.2167_2168del (p.Leu723fs)	See cases [RCV002252554]	likely pathogenic	17	69286002	69286003	Human		name
405652793	CV3225876	microsatellite	NM_172232.4(ABCA5):c.1632_1633del (p.Arg544fs)	Gingival fibromatosis-hypertrichosis syndrome [RCV003990935]	likely pathogenic	17	69290011	69290012	Human		name

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