Hoxa13 Variant Search Result - Rat Genome Database

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222 records found for search term Hoxa13

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405201829	CV2978991	single nucleotide variant	NM_000522.5(HOXA13):c.923-3T>C	not provided [RCV003678192]	uncertain significance	7	27198445	27198445	Human		name
150512209	CV1284890	single nucleotide variant	NM_000522.5(HOXA13):c.922+84G>C	not provided [RCV001721759]	benign	7	27199072	27199072	Human		name
405175494	CV3123107	single nucleotide variant	NM_000522.5(HOXA13):c.922+13C>T	not provided [RCV003819506]	benign	7	27199143	27199143	Human		name
597898228	CV3828046	single nucleotide variant	NM_000522.5(HOXA13):c.922+14T>C	not provided [RCV005173121]	likely benign	7	27199142	27199142	Human		name
156164495	CV1971407	single nucleotide variant	NM_000522.5(HOXA13):c.24C>T (p.His8=)	not provided [RCV002594580]	likely benign	7	27200054	27200054	Human		name
402475479	CV2920643	single nucleotide variant	NM_000522.5(HOXA13):c.36C>A (p.Ile12=)	not provided [RCV003571353]	likely benign	7	27200042	27200042	Human		name
152065075	CV1525913	single nucleotide variant	NM_000522.5(HOXA13):c.25C>T (p.Pro9Ser)	not provided [RCV002128859]	likely benign	7	27200053	27200053	Human		name
152082735	CV1608120	single nucleotide variant	NM_000522.5(HOXA13):c.147G>A (p.Ala49=)	not provided [RCV002193236]	benign	7	27199931	27199931	Human		name
156050497	CV1868999	single nucleotide variant	NM_000522.5(HOXA13):c.132G>C (p.Ala44=)	not provided [RCV003052981]	likely benign	7	27199946	27199946	Human		name
155983818	CV1897033	single nucleotide variant	NM_000522.5(HOXA13):c.294G>T (p.Ala98=)	not provided [RCV003097511]	likely benign	7	27199784	27199784	Human		name
156317009	CV1901295	single nucleotide variant	NM_000522.5(HOXA13):c.129A>G (p.Ala43=)	HOXA13-related disorder [RCV004756469]\|not provided [RCV002579006]	benign\|likely benign	7	27199949	27199949	Human	1	name , trait , alternate_id
155985423	CV1979567	single nucleotide variant	NM_000522.5(HOXA13):c.270G>A (p.Leu90=)	not provided [RCV002617785]	likely benign	7	27199808	27199808	Human		name
156140703	CV2167625	single nucleotide variant	NM_000522.5(HOXA13):c.24C>A (p.His8Gln)	not provided [RCV003022510]	uncertain significance	7	27200054	27200054	Human		name
405189471	CV3149565	single nucleotide variant	NM_000522.5(HOXA13):c.261C>T (p.Cys87=)	not provided [RCV003843291]	likely benign	7	27199817	27199817	Human		name
405042194	CV3154081	single nucleotide variant	NM_000522.5(HOXA13):c.177C>G (p.Pro59=)	not provided [RCV003848949]	likely benign	7	27199901	27199901	Human		name
405273929	CV3194900	single nucleotide variant	NM_000522.5(HOXA13):c.228C>A (p.Ala76=)	HOXA13-related disorder [RCV003902142]	likely benign	7	27199850	27199850	Human		name , trait , alternate_id
405258781	CV3215076	single nucleotide variant	NM_000522.5(HOXA13):c.135T>G (p.Ala45=)	HOXA13-related disorder [RCV003942140]	likely benign	7	27199943	27199943	Human		name , trait , alternate_id
408384813	CV3503644	single nucleotide variant	NM_000522.5(HOXA13):c.258G>A (p.Gln86=)	HOXA13-related disorder [RCV004732134]	likely benign	7	27199820	27199820	Human		name , trait , alternate_id
408366705	CV3515062	single nucleotide variant	NM_000522.5(HOXA13):c.123T>G (p.Ala41=)	HOXA13-related disorder [RCV004756952]	likely benign	7	27199955	27199955	Human		name , trait , alternate_id
408366792	CV3516870	single nucleotide variant	NM_000522.5(HOXA13):c.126A>G (p.Ala42=)	HOXA13-related disorder [RCV004757032]	likely benign	7	27199952	27199952	Human		name , trait , alternate_id
597831180	CV3739934	single nucleotide variant	NM_000522.5(HOXA13):c.207C>T (p.Asn69=)	not provided [RCV005062632]	likely benign	7	27199871	27199871	Human		name
597937923	CV3760011	single nucleotide variant	NM_000522.5(HOXA13):c.111G>T (p.Gly37=)	not provided [RCV005076935]	uncertain significance	7	27199967	27199967	Human		name
597871980	CV3813591	single nucleotide variant	NM_000522.5(HOXA13):c.219G>T (p.Ala73=)	not provided [RCV005146853]	likely benign	7	27199859	27199859	Human		name
597894514	CV3828658	single nucleotide variant	NM_000522.5(HOXA13):c.22C>T (p.His8Tyr)	not provided [RCV005169287]	uncertain significance	7	27200056	27200056	Human		name
13214679	CV428705	single nucleotide variant	NM_000522.5(HOXA13):c.159C>G (p.Ala53=)	not specified [RCV000501567]	likely benign	7	27199919	27199919	Human		name
13216429	CV428706	single nucleotide variant	NM_000522.5(HOXA13):c.150T>G (p.Ala50=)	not provided [RCV004705627]\|not specified [RCV000503653]	likely benign	7	27199928	27199928	Human		name
15192596	CV736103	single nucleotide variant	NM_000522.5(HOXA13):c.234T>A (p.Ala78=)	Guttmacher syndrome [RCV002505334]\|not provided [RCV000910589]	likely benign	7	27199844	27199844	Human	1	name
150482829	CV1247518	single nucleotide variant	NM_000522.5(HOXA13):c.504G>A (p.Ala168=)	not provided [RCV001673344]	benign	7	27199574	27199574	Human		name
151355487	CV1328554	single nucleotide variant	NM_000522.5(HOXA13):c.603C>T (p.Ala201=)	not specified [RCV001820559]	uncertain significance	7	27199475	27199475	Human		name
151854211	CV1372601	single nucleotide variant	NM_000522.5(HOXA13):c.921C>G (p.Pro307=)	not provided [RCV001996336]	uncertain significance	7	27199157	27199157	Human		name
151809515	CV1476409	single nucleotide variant	NM_000522.5(HOXA13):c.46G>A (p.Val16Ile)	Guttmacher syndrome [RCV002490001]\|HOXA13-related disorder [RCV004756301]\|not provided [RCV001899805]	likely benign\|uncertain significance	7	27200032	27200032	Human	2	name , trait , alternate_id
152056359	CV1523026	single nucleotide variant	NM_000522.5(HOXA13):c.456A>G (p.Gln152=)	not provided [RCV002167485]	likely benign	7	27199622	27199622	Human		name
152052556	CV1587378	single nucleotide variant	NM_000522.5(HOXA13):c.897C>T (p.Pro299=)	not provided [RCV002145864]	benign	7	27199181	27199181	Human		name
152063719	CV1612136	single nucleotide variant	NM_000522.5(HOXA13):c.678G>A (p.Lys226=)	not provided [RCV002128672]	likely benign	7	27199400	27199400	Human		name
156449092	CV1944347	single nucleotide variant	NM_000522.5(HOXA13):c.591C>G (p.Pro197=)	not provided [RCV003121204]	likely benign	7	27199487	27199487	Human		name
156218133	CV1963457	single nucleotide variant	NM_000522.5(HOXA13):c.870C>T (p.Tyr290=)	not provided [RCV002575418]	likely benign	7	27199208	27199208	Human		name
156228036	CV2006136	single nucleotide variant	NM_000522.5(HOXA13):c.360T>A (p.Ala120=)	not provided [RCV002667474]	likely benign	7	27199718	27199718	Human		name
156031893	CV2029813	single nucleotide variant	NM_000522.5(HOXA13):c.423G>A (p.Pro141=)	not provided [RCV002735840]	likely benign	7	27199655	27199655	Human		name
156215399	CV2135921	single nucleotide variant	NM_000522.5(HOXA13):c.588G>A (p.Gln196=)	not provided [RCV003007159]	likely benign	7	27199490	27199490	Human		name
405209801	CV2871468	single nucleotide variant	NM_000522.5(HOXA13):c.477G>C (p.Ala159=)	not provided [RCV003552427]	benign	7	27199601	27199601	Human		name
405085921	CV2943177	single nucleotide variant	NM_000522.5(HOXA13):c.579G>A (p.Ser193=)	not provided [RCV003664949]	likely benign	7	27199499	27199499	Human		name
405228391	CV2973685	single nucleotide variant	NM_000522.5(HOXA13):c.339C>A (p.Pro113=)	not provided [RCV003681831]	likely benign	7	27199739	27199739	Human		name
405207476	CV3036988	single nucleotide variant	NM_000522.5(HOXA13):c.372C>G (p.Ala124=)	not provided [RCV003708192]	likely benign	7	27199706	27199706	Human		name
405109143	CV3136786	single nucleotide variant	NM_000522.5(HOXA13):c.366G>C (p.Ala122=)	not provided [RCV003835940]	likely benign	7	27199712	27199712	Human		name
402464090	CV3172638	single nucleotide variant	NM_000522.5(HOXA13):c.363C>T (p.Ala121=)	not provided [RCV003872576]	likely benign	7	27199715	27199715	Human		name
405284673	CV3190512	single nucleotide variant	NM_000522.5(HOXA13):c.849C>T (p.Asn283=)	HOXA13-related disorder [RCV003909319]	likely benign	7	27199229	27199229	Human		name , trait , alternate_id
405282562	CV3191057	single nucleotide variant	NM_000522.5(HOXA13):c.384C>G (p.Ala128=)	HOXA13-related disorder [RCV003921475]	likely benign	7	27199694	27199694	Human		name , trait , alternate_id
405277877	CV3191382	single nucleotide variant	NM_000522.5(HOXA13):c.363C>G (p.Ala121=)	HOXA13-related disorder [RCV003904741]	likely benign	7	27199715	27199715	Human		name , trait , alternate_id
405283516	CV3191406	single nucleotide variant	NM_000522.5(HOXA13):c.390C>A (p.Ala130=)	HOXA13-related disorder [RCV003921795]	likely benign	7	27199688	27199688	Human		name , trait , alternate_id
405259247	CV3194607	single nucleotide variant	NM_000522.5(HOXA13):c.390C>G (p.Ala130=)	HOXA13-related disorder [RCV003894001]	likely benign	7	27199688	27199688	Human		name , trait , alternate_id
405279080	CV3206831	single nucleotide variant	NM_000522.5(HOXA13):c.372C>A (p.Ala124=)	HOXA13-related disorder [RCV003919394]	likely benign	7	27199706	27199706	Human		name , trait , alternate_id
405286919	CV3213867	single nucleotide variant	NM_000522.5(HOXA13):c.375T>G (p.Ala125=)	HOXA13-related disorder [RCV003924262]	likely benign	7	27199703	27199703	Human		name , trait , alternate_id
408366714	CV3515155	single nucleotide variant	NM_000522.5(HOXA13):c.378A>C (p.Ala126=)	HOXA13-related disorder [RCV004756960]	likely benign	7	27199700	27199700	Human		name , trait , alternate_id
408366854	CV3518014	single nucleotide variant	NM_000522.5(HOXA13):c.67G>A (p.Gly23Ser)	Guttmacher syndrome [RCV005038819]\|HOXA13-related disorder [RCV004757088]	uncertain significance	7	27200011	27200011	Human	2	name , trait , alternate_id
597702825	CV3719063	single nucleotide variant	NM_000522.5(HOXA13):c.606C>A (p.Ala202=)	Guttmacher syndrome [RCV005047912]	uncertain significance	7	27199472	27199472	Human	1	name
597702838	CV3719066	single nucleotide variant	NM_000522.5(HOXA13):c.465C>T (p.Pro155=)	Guttmacher syndrome [RCV005047913]	uncertain significance	7	27199613	27199613	Human	1	name
597703479	CV3719080	single nucleotide variant	NM_000522.5(HOXA13):c.88G>C (p.Glu30Gln)	Guttmacher syndrome [RCV005033724]	uncertain significance	7	27199990	27199990	Human	1	name
597703492	CV3719081	single nucleotide variant	NM_000522.5(HOXA13):c.68G>C (p.Gly23Ala)	Guttmacher syndrome [RCV005033725]	uncertain significance	7	27200010	27200010	Human	1	name
597896883	CV3744525	single nucleotide variant	NM_000522.5(HOXA13):c.327C>T (p.Pro109=)	not provided [RCV005071803]	likely benign	7	27199751	27199751	Human		name
597916689	CV3838217	single nucleotide variant	NM_000522.5(HOXA13):c.636T>C (p.Asp212=)	not provided [RCV005191592]	likely benign	7	27199442	27199442	Human		name
15108451	CV722484	single nucleotide variant	NM_000522.5(HOXA13):c.480G>A (p.Ala160=)	Guttmacher syndrome [RCV002501486]\|not provided [RCV000893672]\|not specified [RCV001729738]	benign\|likely benign	7	27199598	27199598	Human	1	name
15177665	CV736099	single nucleotide variant	NM_000522.5(HOXA13):c.591C>A (p.Pro197=)	not provided [RCV000906704]	benign	7	27199487	27199487	Human		name
15192094	CV736101	single nucleotide variant	NM_000522.5(HOXA13):c.366G>T (p.Ala122=)	not provided [RCV000910437]	likely benign	7	27199712	27199712	Human		name
15148624	CV736102	single nucleotide variant	NM_000522.5(HOXA13):c.342G>A (p.Pro114=)	HOXA13-related disorder [RCV003975732]\|not provided [RCV000900759]	likely benign	7	27199736	27199736	Human	1	name , trait , alternate_id
15130051	CV750600	single nucleotide variant	NM_000522.5(HOXA13):c.561C>T (p.His187=)	not provided [RCV000919937]	likely benign	7	27199517	27199517	Human		name
15144377	CV782846	single nucleotide variant	NM_000522.5(HOXA13):c.357T>C (p.Ala119=)	not provided [RCV000983480]	likely benign	7	27199721	27199721	Human		name
150545807	CV1297616	single nucleotide variant	NM_000522.5(HOXA13):c.263G>A (p.Arg88His)	Guttmacher syndrome [RCV002489757]\|Inborn genetic diseases [RCV003355531]\|not provided [RCV001763204]	uncertain significance	7	27199815	27199815	Human	2	name
151819369	CV1386828	single nucleotide variant	NM_000522.5(HOXA13):c.280C>G (p.Pro94Ala)	not provided [RCV001954605]	uncertain significance	7	27199798	27199798	Human		name
151823032	CV1448386	single nucleotide variant	NM_000522.5(HOXA13):c.175C>T (p.Pro59Ser)	Guttmacher syndrome [RCV002479518]\|Inborn genetic diseases [RCV002562162]\|not provided [RCV001934329]	uncertain significance	7	27199903	27199903	Human	2	name
151849712	CV1464775	single nucleotide variant	NM_000522.5(HOXA13):c.140C>T (p.Ala47Val)	not provided [RCV001995801]	uncertain significance	7	27199938	27199938	Human		name
152074412	CV1647499	single nucleotide variant	NM_000522.5(HOXA13):c.175C>G (p.Pro59Ala)	Guttmacher syndrome [RCV005397335]\|HOXA13-related disorder [RCV003951330]\|not provided [RCV002210401]	likely benign\|uncertain significance	7	27199903	27199903	Human	2	name , trait , alternate_id
155800015	CV1862758	duplication	NM_000522.5(HOXA13):c.741dup (p.Gly248fs)	Hand-foot-genital syndrome [RCV002472165]	likely pathogenic	7	27199336	27199337	Human	1	name
156406591	CV1917783	single nucleotide variant	NM_000522.5(HOXA13):c.1071C>G (p.Ala357=)	not provided [RCV002606643]	benign	7	27198294	27198294	Human		name
156354136	CV1920800	single nucleotide variant	NM_000522.5(HOXA13):c.275C>G (p.Ala92Gly)	not provided [RCV002632200]	uncertain significance	7	27199803	27199803	Human		name
156377775	CV2000503	single nucleotide variant	NM_000522.5(HOXA13):c.191C>A (p.Ala64Glu)	Guttmacher syndrome [RCV005034347]\|not provided [RCV002653428]	uncertain significance	7	27199887	27199887	Human	1	name
156036286	CV2124440	single nucleotide variant	NM_000522.5(HOXA13):c.196G>T (p.Ala66Ser)	HOXA13-related disorder [RCV004756444]\|not provided [RCV002923727]	likely benign\|uncertain significance	7	27199882	27199882	Human	1	name , trait , alternate_id
155973236	CV2211000	single nucleotide variant	NM_000522.5(HOXA13):c.157G>A (p.Ala53Thr)	Inborn genetic diseases [RCV002687689]	uncertain significance	7	27199921	27199921	Human	1	name
156135641	CV2245613	single nucleotide variant	NM_000522.5(HOXA13):c.112G>A (p.Ala38Thr)	Inborn genetic diseases [RCV002763211]	uncertain significance	7	27199966	27199966	Human	1	name
243060030	CV2407778	single nucleotide variant	NM_000522.5(HOXA13):c.133G>A (p.Ala45Thr)	Guttmacher syndrome [RCV005036672]\|not provided [RCV003135613]	uncertain significance	7	27199945	27199945	Human	1	name
329390360	CV2453684	single nucleotide variant	NM_000522.5(HOXA13):c.245C>A (p.Ala82Asp)	Inborn genetic diseases [RCV003191496]	uncertain significance	7	27199833	27199833	Human	1	name
401723940	CV2684919	single nucleotide variant	NM_000522.5(HOXA13):c.191C>T (p.Ala64Val)	Inborn genetic diseases [RCV003245335]	uncertain significance	7	27199887	27199887	Human	1	name
401750634	CV2715711	single nucleotide variant	NM_000522.5(HOXA13):c.193G>A (p.Ala65Thr)	Inborn genetic diseases [RCV003295247]	uncertain significance	7	27199885	27199885	Human	1	name
405221638	CV2966247	single nucleotide variant	NM_000522.5(HOXA13):c.154G>T (p.Gly52Trp)	not provided [RCV003680779]	uncertain significance	7	27199924	27199924	Human		name
405248540	CV2984866	single nucleotide variant	NM_000522.5(HOXA13):c.133G>T (p.Ala45Ser)	not provided [RCV003721082]	uncertain significance	7	27199945	27199945	Human		name
405797521	CV3263290	single nucleotide variant	NM_000522.5(HOXA13):c.131C>T (p.Ala44Val)	Inborn genetic diseases [RCV004401929]	uncertain significance	7	27199947	27199947	Human	1	name
407528026	CV3433780	single nucleotide variant	NM_000522.5(HOXA13):c.203G>C (p.Gly68Ala)	Inborn genetic diseases [RCV004632989]	uncertain significance	7	27199875	27199875	Human	1	name
408388637	CV3522747	single nucleotide variant	NM_000522.5(HOXA13):c.1089G>A (p.Glu363=)	not provided [RCV004769128]	uncertain significance	7	27198276	27198276	Human		name
597692071	CV3679587	single nucleotide variant	NM_000522.5(HOXA13):c.113C>A (p.Ala38Glu)	Inborn genetic diseases [RCV004985922]	uncertain significance	7	27199965	27199965	Human	1	name
597692078	CV3679588	single nucleotide variant	NM_000522.5(HOXA13):c.279C>G (p.His93Gln)	Inborn genetic diseases [RCV004985923]	uncertain significance	7	27199799	27199799	Human	1	name
597703457	CV3719077	single nucleotide variant	NM_000522.5(HOXA13):c.275C>T (p.Ala92Val)	Guttmacher syndrome [RCV005033722]	uncertain significance	7	27199803	27199803	Human	1	name
597702867	CV3719078	single nucleotide variant	NM_000522.5(HOXA13):c.181C>A (p.Pro61Thr)	Guttmacher syndrome [RCV005047916]	uncertain significance	7	27199897	27199897	Human	1	name
598191550	CV3971683	single nucleotide variant	NM_000522.5(HOXA13):c.103A>G (p.Met35Val)	Inborn genetic diseases [RCV005354304]	uncertain significance	7	27199975	27199975	Human	1	name
15182571	CV722483	single nucleotide variant	NM_000522.5(HOXA13):c.1002A>G (p.Leu334=)	not provided [RCV000886022]	benign\|likely benign	7	27198363	27198363	Human		name
150446000	CV1261294	single nucleotide variant	NM_000522.5(HOXA13):c.496C>A (p.Pro166Thr)	Guttmacher syndrome [RCV002488462]\|not provided [RCV001679968]	benign	7	27199582	27199582	Human	2	name
150446000	CV1261294	single nucleotide variant	NM_000522.5(HOXA13):c.496C>A (p.Pro166Thr)	Guttmacher syndrome [RCV002488462]\|not provided [RCV001679968]	benign	7	27199582	27199583	Human	2	name
150532865	CV1293717	single nucleotide variant	NM_000522.5(HOXA13):c.962G>A (p.Arg321Lys)	not provided [RCV001757994]	uncertain significance	7	27198403	27198403	Human		name
150554229	CV1296631	single nucleotide variant	NM_000522.5(HOXA13):c.527G>A (p.Ser176Asn)	Guttmacher syndrome [RCV002496096]\|not provided [RCV001770868]	uncertain significance	7	27199551	27199551	Human	1	name
150551516	CV1297410	single nucleotide variant	NM_000522.5(HOXA13):c.499G>T (p.Ala167Ser)	Guttmacher syndrome [RCV002503204]\|not provided [RCV001767092]	uncertain significance	7	27199579	27199579	Human	1	name
150550500	CV1298958	single nucleotide variant	NM_000522.5(HOXA13):c.481C>T (p.Gln161Ter)	not provided [RCV001765752]	uncertain significance	7	27199597	27199597	Human		name
151739771	CV1455244	single nucleotide variant	NM_000522.5(HOXA13):c.373G>A (p.Ala125Thr)	not provided [RCV002005700]	uncertain significance	7	27199705	27199705	Human		name
151819636	CV1514088	single nucleotide variant	NM_000522.5(HOXA13):c.431C>T (p.Pro144Leu)	Guttmacher syndrome [RCV005031941]\|not provided [RCV001934016]	uncertain significance	7	27199647	27199647	Human	1	name
155795008	CV1858684	single nucleotide variant	NM_000522.5(HOXA13):c.869A>C (p.Tyr290Ser)	Hand-foot-genital syndrome [RCV002463573]	likely pathogenic	7	27199209	27199209	Human	1	name
156405068	CV1919178	single nucleotide variant	NM_000522.5(HOXA13):c.784G>A (p.Gly262Ser)	not provided [RCV002585567]	uncertain significance	7	27199294	27199294	Human		name
156419336	CV1932497	single nucleotide variant	NM_000522.5(HOXA13):c.529G>C (p.Gly177Arg)	not provided [RCV002612566]	likely benign	7	27199549	27199549	Human		name
156437087	CV1936915	single nucleotide variant	NM_000522.5(HOXA13):c.662T>A (p.Phe221Tyr)	Inborn genetic diseases [RCV003377919]\|not provided [RCV003106617]	uncertain significance	7	27199416	27199416	Human	1	name
156093689	CV1980786	single nucleotide variant	NM_000522.5(HOXA13):c.418G>T (p.Gly140Cys)	not provided [RCV002621952]	uncertain significance	7	27199660	27199660	Human		name
156393074	CV2006150	single nucleotide variant	NM_000522.5(HOXA13):c.448G>A (p.Ala150Thr)	Guttmacher syndrome [RCV005042949]\|Inborn genetic diseases [RCV004983073]\|not provided [RCV002680957]	uncertain significance	7	27199630	27199630	Human	2	name
156018281	CV2019189	single nucleotide variant	NM_000522.5(HOXA13):c.956A>G (p.Tyr319Cys)	not provided [RCV002690872]	uncertain significance	7	27198409	27198409	Human		name
156032789	CV2037049	single nucleotide variant	NM_000522.5(HOXA13):c.496C>T (p.Pro166Ser)	not provided [RCV002781180]	likely benign	7	27199582	27199582	Human		name
155951739	CV2046799	single nucleotide variant	NM_000522.5(HOXA13):c.850G>A (p.Gly284Ser)	not provided [RCV002775810]	uncertain significance	7	27199228	27199228	Human		name
156168575	CV2133477	single nucleotide variant	NM_000522.5(HOXA13):c.470C>T (p.Ser157Leu)	not provided [RCV003005316]	uncertain significance	7	27199608	27199608	Human		name
156169205	CV2197767	single nucleotide variant	NM_000522.5(HOXA13):c.505C>G (p.Leu169Val)	Guttmacher syndrome [RCV005045379]\|Inborn genetic diseases [RCV002664627]	uncertain significance	7	27199573	27199573	Human	2	name
156089213	CV2202046	single nucleotide variant	NM_000522.5(HOXA13):c.544G>T (p.Ala182Ser)	Inborn genetic diseases [RCV002661251]	uncertain significance	7	27199534	27199534	Human	1	name
156232532	CV2227690	single nucleotide variant	NM_000522.5(HOXA13):c.631A>T (p.Met211Leu)	Inborn genetic diseases [RCV002712855]	uncertain significance	7	27199447	27199447	Human	1	name
156141406	CV2243820	single nucleotide variant	NM_000522.5(HOXA13):c.421C>T (p.Pro141Ser)	Inborn genetic diseases [RCV002763555]	uncertain significance	7	27199657	27199657	Human	1	name
155917883	CV2275101	single nucleotide variant	NM_000522.5(HOXA13):c.538C>T (p.Pro180Ser)	Inborn genetic diseases [RCV002859238]	uncertain significance	7	27199540	27199540	Human	1	name
156010501	CV2291030	single nucleotide variant	NM_000522.5(HOXA13):c.500C>G (p.Ala167Gly)	Inborn genetic diseases [RCV002884062]	uncertain significance	7	27199578	27199578	Human	1	name
156058109	CV2305219	single nucleotide variant	NM_000522.5(HOXA13):c.614C>T (p.Ala205Val)	Inborn genetic diseases [RCV002911612]	uncertain significance	7	27199464	27199464	Human	1	name
156172063	CV2312618	single nucleotide variant	NM_000522.5(HOXA13):c.848A>G (p.Asn283Ser)	Guttmacher syndrome [RCV005047349]\|Inborn genetic diseases [RCV002916610]	uncertain significance	7	27199230	27199230	Human	2	name
156347925	CV2375590	single nucleotide variant	NM_000522.5(HOXA13):c.424G>C (p.Ala142Pro)	Inborn genetic diseases [RCV002719944]	uncertain significance	7	27199654	27199654	Human	1	name
156347931	CV2375591	single nucleotide variant	NM_000522.5(HOXA13):c.431C>G (p.Pro144Arg)	Inborn genetic diseases [RCV002719945]	uncertain significance	7	27199647	27199647	Human	1	name
155902923	CV2386376	single nucleotide variant	NM_000522.5(HOXA13):c.950G>C (p.Ser317Thr)	Inborn genetic diseases [RCV002748995]\|not provided [RCV003730380]	uncertain significance	7	27198415	27198415	Human	1	name
329381962	CV2424280	single nucleotide variant	NM_000522.5(HOXA13):c.644G>A (p.Gly215Asp)	Inborn genetic diseases [RCV003188286]	uncertain significance	7	27199434	27199434	Human	1	name
329359497	CV2446293	single nucleotide variant	NM_000522.5(HOXA13):c.529G>A (p.Gly177Ser)	Inborn genetic diseases [RCV003179454]\|not provided [RCV005101231]	uncertain significance	7	27199549	27199549	Human	1	name
329397694	CV2463916	single nucleotide variant	NM_000522.5(HOXA13):c.331G>C (p.Glu111Gln)	Inborn genetic diseases [RCV003220135]	uncertain significance	7	27199747	27199747	Human	1	name
329398422	CV2464562	single nucleotide variant	NM_000522.5(HOXA13):c.784G>T (p.Gly262Cys)	Inborn genetic diseases [RCV003196083]	uncertain significance	7	27199294	27199294	Human	1	name
401725758	CV2687240	single nucleotide variant	NM_000522.5(HOXA13):c.887C>A (p.Ala296Glu)	Inborn genetic diseases [RCV003245977]	uncertain significance	7	27199191	27199191	Human	1	name
401772135	CV2708144	single nucleotide variant	NM_000522.5(HOXA13):c.476C>T (p.Ala159Val)	Inborn genetic diseases [RCV003261736]	uncertain significance	7	27199602	27199602	Human	1	name
401932723	CV2801843	single nucleotide variant	NM_000522.5(HOXA13):c.652G>A (p.Ala218Thr)	HOXA13-related disorder [RCV003408811]	uncertain significance	7	27199426	27199426	Human		name , trait , alternate_id
405212106	CV2878601	single nucleotide variant	NM_000522.5(HOXA13):c.562C>G (p.Pro188Ala)	not provided [RCV003552746]	likely benign	7	27199516	27199516	Human		name
8600007	CV29929	single nucleotide variant	NM_000522.5(HOXA13):c.407C>A (p.Ser136Ter)	Hand-foot-genital syndrome [RCV000016019]	pathogenic	7	27199671	27199671	Human	1	name
8600010	CV29933	insertion	HOXA13, 18-BP DUP, ALANINE TRACT EXPANSION	Hand-foot-genital syndrome [RCV000016023]	pathogenic				Human		name
405271181	CV3209269	single nucleotide variant	NM_000522.5(HOXA13):c.566A>G (p.Asn189Ser)	HOXA13-related disorder [RCV003949625]	uncertain significance	7	27199512	27199512	Human		name , trait , alternate_id
405261391	CV3221448	single nucleotide variant	NM_000522.5(HOXA13):c.461G>A (p.Ser154Asn)	HOXA13-related disorder [RCV003966927]	uncertain significance	7	27199617	27199617	Human		name , trait , alternate_id
405797524	CV3263291	single nucleotide variant	NM_000522.5(HOXA13):c.871T>C (p.Cys291Arg)	Inborn genetic diseases [RCV004401930]	uncertain significance	7	27199207	27199207	Human	1	name
405855287	CV3394049	single nucleotide variant	NM_000522.5(HOXA13):c.884A>C (p.Gln295Pro)	Hand-foot-genital syndrome [RCV004547275]	uncertain significance	7	27199194	27199194	Human	1	name
407528023	CV3433779	single nucleotide variant	NM_000522.5(HOXA13):c.551T>A (p.Met184Lys)	Inborn genetic diseases [RCV004632988]\|not provided [RCV004759432]	uncertain significance	7	27199527	27199527	Human	1	name
407528027	CV3433781	single nucleotide variant	NM_000522.5(HOXA13):c.401C>T (p.Ser134Leu)	Inborn genetic diseases [RCV004632990]	uncertain significance	7	27199677	27199677	Human	1	name
408374455	CV3502452	single nucleotide variant	NM_000522.5(HOXA13):c.352G>A (p.Ala118Thr)	not provided [RCV004726039]	uncertain significance	7	27199726	27199726	Human		name
408366608	CV3511312	single nucleotide variant	NM_000522.5(HOXA13):c.406T>C (p.Ser136Pro)	HOXA13-related disorder [RCV004756774]	uncertain significance	7	27199672	27199672	Human		name , trait , alternate_id
408393774	CV3519923	single nucleotide variant	NM_000522.5(HOXA13):c.622G>C (p.Asp208His)	not provided [RCV004764219]	uncertain significance	7	27199456	27199456	Human		name
596925307	CV3541895	single nucleotide variant	NM_000522.5(HOXA13):c.730C>T (p.Gln244Ter)	Guttmacher syndrome [RCV004795609]	pathogenic\|likely pathogenic	7	27199348	27199348	Human	1	name
12849813	CV363643	single nucleotide variant	NM_000522.5(HOXA13):c.633G>T (p.Met211Ile)	not provided [RCV000436352]	benign\|likely benign	7	27199445	27199445	Human		name
597692089	CV3679590	single nucleotide variant	NM_000522.5(HOXA13):c.455A>C (p.Gln152Pro)	Inborn genetic diseases [RCV004985925]	uncertain significance	7	27199623	27199623	Human	1	name
597692096	CV3679591	single nucleotide variant	NM_000522.5(HOXA13):c.394G>A (p.Ala132Thr)	Inborn genetic diseases [RCV004985926]\|not provided [RCV005061765]	uncertain significance	7	27199684	27199684	Human	1	name
597692106	CV3679592	single nucleotide variant	NM_000522.5(HOXA13):c.798C>A (p.His266Gln)	Inborn genetic diseases [RCV004985927]	uncertain significance	7	27199280	27199280	Human	1	name
597702789	CV3719051	single nucleotide variant	NM_000522.5(HOXA13):c.979G>A (p.Val327Met)	Guttmacher syndrome [RCV005047909]	uncertain significance	7	27198386	27198386	Human	1	name
597703272	CV3719052	single nucleotide variant	NM_000522.5(HOXA13):c.859G>A (p.Gly287Ser)	Guttmacher syndrome [RCV005033706]	likely benign	7	27199219	27199219	Human	1	name
597702801	CV3719053	single nucleotide variant	NM_000522.5(HOXA13):c.839C>T (p.Ala280Val)	Guttmacher syndrome [RCV005047910]	uncertain significance	7	27199239	27199239	Human	1	name
597703284	CV3719054	single nucleotide variant	NM_000522.5(HOXA13):c.837G>A (p.Trp279Ter)	Guttmacher syndrome [RCV005033707]	likely pathogenic	7	27199241	27199241	Human	1	name
597703295	CV3719055	single nucleotide variant	NM_000522.5(HOXA13):c.742G>A (p.Gly248Ser)	Guttmacher syndrome [RCV005033708]	uncertain significance	7	27199336	27199336	Human	1	name
597703306	CV3719056	single nucleotide variant	NM_000522.5(HOXA13):c.700G>A (p.Gly234Ser)	Guttmacher syndrome [RCV005033709]	uncertain significance	7	27199378	27199378	Human	1	name
597703316	CV3719057	single nucleotide variant	NM_000522.5(HOXA13):c.683T>C (p.Phe228Ser)	Guttmacher syndrome [RCV005033710]	uncertain significance	7	27199395	27199395	Human	1	name
597702811	CV3719058	single nucleotide variant	NM_000522.5(HOXA13):c.677A>G (p.Lys226Arg)	Guttmacher syndrome [RCV005047911]	uncertain significance	7	27199401	27199401	Human	1	name
597703330	CV3719059	single nucleotide variant	NM_000522.5(HOXA13):c.643G>A (p.Gly215Ser)	Guttmacher syndrome [RCV005033711]	uncertain significance	7	27199435	27199435	Human	1	name
597703341	CV3719061	single nucleotide variant	NM_000522.5(HOXA13):c.631A>C (p.Met211Leu)	Guttmacher syndrome [RCV005033712]	uncertain significance	7	27199447	27199447	Human	1	name
597703355	CV3719062	single nucleotide variant	NM_000522.5(HOXA13):c.613G>T (p.Ala205Ser)	Guttmacher syndrome [RCV005033713]	uncertain significance	7	27199465	27199465	Human	1	name
597703367	CV3719064	single nucleotide variant	NM_000522.5(HOXA13):c.581G>C (p.Cys194Ser)	Guttmacher syndrome [RCV005033714]	uncertain significance	7	27199497	27199497	Human	1	name
597703380	CV3719065	single nucleotide variant	NM_000522.5(HOXA13):c.512A>G (p.Tyr171Cys)	Guttmacher syndrome [RCV005033715]	uncertain significance	7	27199566	27199566	Human	1	name
597703428	CV3719070	single nucleotide variant	NM_000522.5(HOXA13):c.400T>C (p.Ser134Pro)	Guttmacher syndrome [RCV005033719]	uncertain significance	7	27199678	27199678	Human	1	name
597703437	CV3719072	single nucleotide variant	NM_000522.5(HOXA13):c.328G>T (p.Gly110Trp)	Guttmacher syndrome [RCV005033720]\|Inborn genetic diseases [RCV005336053]	uncertain significance	7	27199750	27199750	Human	2	name
597703447	CV3719073	single nucleotide variant	NM_000522.5(HOXA13):c.326C>T (p.Pro109Leu)	Guttmacher syndrome [RCV005033721]	uncertain significance	7	27199752	27199752	Human	1	name
597702858	CV3719076	single nucleotide variant	NM_000522.5(HOXA13):c.304G>C (p.Ala102Pro)	Guttmacher syndrome [RCV005047915]	uncertain significance	7	27199774	27199774	Human	1	name
597970373	CV3750231	single nucleotide variant	NM_000522.5(HOXA13):c.452A>G (p.Lys151Arg)	not provided [RCV005084172]	uncertain significance	7	27199626	27199626	Human		name
597842146	CV3776958	single nucleotide variant	NM_000522.5(HOXA13):c.890A>G (p.Gln297Arg)	not provided [RCV005117117]	uncertain significance	7	27199188	27199188	Human		name
597866299	CV3795000	single nucleotide variant	NM_000522.5(HOXA13):c.319A>C (p.Ser107Arg)	not provided [RCV005140968]	uncertain significance	7	27199759	27199759	Human		name
597863652	CV3800377	single nucleotide variant	NM_000522.5(HOXA13):c.709G>A (p.Ala237Thr)	not provided [RCV005137469]	uncertain significance	7	27199369	27199369	Human		name
597899522	CV3821842	single nucleotide variant	NM_000522.5(HOXA13):c.620C>T (p.Ala207Val)	not provided [RCV005174320]	uncertain significance	7	27199458	27199458	Human		name
597919983	CV3855883	single nucleotide variant	NM_000522.5(HOXA13):c.610G>A (p.Ala204Thr)	not provided [RCV005194864]	uncertain significance	7	27199468	27199468	Human		name
598191538	CV3971681	single nucleotide variant	NM_000522.5(HOXA13):c.371C>A (p.Ala124Asp)	Inborn genetic diseases [RCV005354302]	uncertain significance	7	27199707	27199707	Human	1	name
13832138	CV582629	single nucleotide variant	NM_000522.5(HOXA13):c.960G>C (p.Arg320Ser)	not provided [RCV000722821]	uncertain significance	7	27198405	27198405	Human		name
15167035	CV736100	single nucleotide variant	NM_000522.5(HOXA13):c.575A>G (p.Lys192Arg)	Inborn genetic diseases [RCV005348249]\|not provided [RCV000904568]	likely benign\|uncertain significance	7	27199503	27199503	Human	1	name
156220060	CV2078330	single nucleotide variant	NM_000522.5(HOXA13):c.1159A>G (p.Thr387Ala)	not provided [RCV002894147]	uncertain significance	7	27198206	27198206	Human		name
156301618	CV2149933	single nucleotide variant	NM_000522.5(HOXA13):c.1082T>C (p.Leu361Pro)	not provided [RCV003028121]	uncertain significance	7	27198283	27198283	Human		name
401757488	CV2735048	single nucleotide variant	NM_000522.5(HOXA13):c.1058G>A (p.Arg353Lys)	Inborn genetic diseases [RCV003297754]	uncertain significance	7	27198307	27198307	Human	1	name
401796922	CV2739923	single nucleotide variant	NM_000522.5(HOXA13):c.1085C>A (p.Ser362Tyr)	not provided [RCV003319884]	uncertain significance	7	27198280	27198280	Human		name
8600006	CV29928	single nucleotide variant	NM_000522.5(HOXA13):c.1107G>A (p.Trp369Ter)	Hand-foot-genital syndrome [RCV000016018]	pathogenic	7	27198258	27198258	Human	1	name
8600009	CV29931	single nucleotide variant	NM_000522.5(HOXA13):c.1114A>C (p.Asn372His)	Hand-foot-genital syndrome [RCV000016021]	pathogenic	7	27198251	27198251	Human	1	name
404990466	CV2998803	single nucleotide variant	NM_000522.5(HOXA13):c.1115A>G (p.Asn372Ser)	not provided [RCV003692213]	uncertain significance	7	27198250	27198250	Human		name
597692084	CV3679589	single nucleotide variant	NM_000522.5(HOXA13):c.1052A>G (p.Lys351Arg)	Inborn genetic diseases [RCV004985924]	uncertain significance	7	27198313	27198313	Human	1	name
597703261	CV3719048	single nucleotide variant	NM_000522.5(HOXA13):c.1148A>G (p.Lys383Arg)	Guttmacher syndrome [RCV005033705]	uncertain significance	7	27198217	27198217	Human	1	name
597702768	CV3719049	single nucleotide variant	NM_000522.5(HOXA13):c.1141A>T (p.Ile381Phe)	Guttmacher syndrome [RCV005047907]	uncertain significance	7	27198224	27198224	Human	1	name
597702780	CV3719050	single nucleotide variant	NM_000522.5(HOXA13):c.1073C>T (p.Thr358Met)	Guttmacher syndrome [RCV005047908]	uncertain significance	7	27198292	27198292	Human	1	name
152982342	CV1677283	microsatellite	NM_000522.5(HOXA13):c.381CGC[5] (p.Ala133del)	HOXA13-related disorder [RCV003933709]\|not specified [RCV002248989]	benign\|likely benign	7	27199680	27199682	Human		name , trait , alternate_id
8600012	CV29935	duplication	NM_000522.5(HOXA13):c.355_406dup (p.Ser136fs)	Hand-foot-genital syndrome [RCV000016025]	pathogenic	7	27199671	27199672	Human	1	name
596927787	CV3541230	deletion	NM_000522.5(HOXA13):c.329_342del (p.Gly110fs)	Guttmacher syndrome [RCV004797101]	uncertain significance	7	27199736	27199749	Human	1	name
405232814	CV2985440	deletion	NM_000522.5(HOXA13):c.375_377del (p.Ala133del)	not provided [RCV003711799]	likely benign	7	27199701	27199703	Human		name
8564508	CV29932	single nucleotide variant	HOXA13, GLN50LEU AND 2-BP DEL, -79GC, PROMOTER	Guttmacher syndrome [RCV000016022]	pathogenic				Human		name
597703417	CV3719069	indel	NM_000522.5(HOXA13):c.423_424delinsA (p.Ala142fs)	Guttmacher syndrome [RCV005033718]	likely pathogenic	7	27199654	27199655	Human		name
126910506	CV1037776	deletion	NM_000522.5(HOXA13):c.126_152del (p.Ala43_Ala51del)	not provided [RCV001354585]	likely benign	7	27199926	27199952	Human		name
156398787	CV1881173	deletion	NM_000522.5(HOXA13):c.234_251del (p.Ala79_Ala84del)	not provided [RCV003068926]	uncertain significance	7	27199827	27199844	Human		name
156405547	CV1913148	indel	NM_000522.5(HOXA13):c.504_505delinsAG (p.Leu169Val)	Guttmacher syndrome [RCV005045327]\|not provided [RCV002606355]	uncertain significance	7	27199573	27199574	Human		name
402474891	CV3182832	deletion	NM_000522.5(HOXA13):c.235_252del (p.Ala79_Ala84del)	not provided [RCV003875076]	uncertain significance	7	27199826	27199843	Human		name
597703404	CV3719067	microsatellite	NM_000522.5(HOXA13):c.421CCGGCGGGC[1] (p.141PAG[1])	Guttmacher syndrome [RCV005033717]	uncertain significance	7	27199640	27199648	Human		name
597900378	CV3822630	deletion	NM_000522.5(HOXA13):c.129_140del (p.Ala48_Ala51del)	not provided [RCV005175161]	uncertain significance	7	27199938	27199949	Human		name
151817467	CV1505616	microsatellite	NM_000522.5(HOXA13):c.598GCC[4] (p.Ala204_Ala205del)	not provided [RCV002049459]	uncertain significance	7	27199463	27199468	Human		name
156361703	CV2119521	microsatellite	NM_000522.5(HOXA13):c.381CGC[3] (p.Ala131_Ala133del)	not provided [RCV002967021]	uncertain significance	7	27199680	27199688	Human		name
151845504	CV1346076	deletion	NM_000522.5(HOXA13):c.357_389del (p.Ala123_Ala133del)	not provided [RCV001936651]	uncertain significance	7	27199689	27199721	Human		name
156391520	CV1991336	deletion	NM_000522.5(HOXA13):c.357_383del (p.Ala125_Ala133del)	Guttmacher syndrome [RCV005032359]\|not provided [RCV002635036]	likely benign\|uncertain significance	7	27199695	27199721	Human	1	name
156227883	CV2006131	deletion	NM_000522.5(HOXA13):c.366_386del (p.Ala127_Ala133del)	not provided [RCV002667469]	likely benign	7	27199692	27199712	Human		name
405226699	CV3069364	deletion	NM_000522.5(HOXA13):c.354_374del (p.Ala127_Ala133del)	Guttmacher syndrome [RCV005037012]\|not provided [RCV003734176]	likely benign	7	27199704	27199724	Human	1	name
405237482	CV3080996	deletion	NM_000522.5(HOXA13):c.366_374del (p.Ala131_Ala133del)	Guttmacher syndrome [RCV005038503]\|not provided [RCV003736170]	likely benign\|uncertain significance	7	27199704	27199712	Human	1	name
597702848	CV3719071	deletion	NM_000522.5(HOXA13):c.348_377del (p.Ala124_Ala133del)	Guttmacher syndrome [RCV005047914]\|not provided [RCV005105285]	likely benign\|uncertain significance	7	27199701	27199730	Human	1	name
13831927	CV582424	deletion	NM_000522.5(HOXA13):c.360_377del (p.Ala128_Ala133del)	Guttmacher syndrome [RCV002499335]\|HOXA13-related disorder [RCV003980357]\|not provided [RCV000722612]	likely benign\|uncertain significance	7	27199701	27199718	Human	2	name , trait , alternate_id
13832284	CV582777	deletion	NM_000522.5(HOXA13):c.357_395del (p.Ala121_Ala133del)	HOXA13-related disorder [RCV003945772]\|not provided [RCV000722970]	uncertain significance	7	27199683	27199721	Human	1	name , trait , alternate_id
13832310	CV582804	deletion	NM_000522.5(HOXA13):c.351_377del (p.Ala125_Ala133del)	Guttmacher syndrome [RCV002485839]\|not provided [RCV000722997]	likely benign\|uncertain significance	7	27199701	27199727	Human	1	name
13832407	CV582901	deletion	NM_000522.5(HOXA13):c.357_392del (p.Ala122_Ala133del)	not provided [RCV000723095]	uncertain significance	7	27199686	27199721	Human		name
15173035	CV700025	deletion	NM_000522.5(HOXA13):c.357_386del (p.Ala124_Ala133del)	not provided [RCV000950156]	likely benign	7	27199692	27199721	Human		name
405129285	CV3114918	duplication	NM_000522.5(HOXA13):c.138_140dup (p.Ala51_Gly52insAla)	not provided [RCV003815763]	uncertain significance	7	27199937	27199938	Human		name
156228373	CV2115477	microsatellite	NM_000522.5(HOXA13):c.598GCC[7] (p.Ala205_Phe206insAla)	not provided [RCV002932729]	likely benign	7	27199462	27199463	Human		name
405244185	CV3161216	duplication	NM_000522.5(HOXA13):c.597_599dup (p.Ala205_Phe206insAla)	not provided [RCV003868125]	uncertain significance	7	27199478	27199479	Human		name
405227151	CV3142543	microsatellite	NM_000522.5(HOXA13):c.381CGC[9] (p.Ala133_Ser134insAlaAlaAla)	not provided [RCV003848082]	uncertain significance	7	27199679	27199680	Human		name
597917602	CV3843578	microsatellite	NM_000522.5(HOXA13):c.598GCC[9] (p.Ala205_Phe206insAlaAlaAla)	not provided [RCV005192615]	uncertain significance	7	27199462	27199463	Human		name
597869832	CV3799180	duplication	NM_000522.5(HOXA13):c.369_377dup (p.Ala133_Ser134insAlaAlaAla)	not provided [RCV005144576]	uncertain significance	7	27199700	27199701	Human		name
597703467	CV3719079	duplication	NM_000522.5(HOXA13):c.117_128dup (p.Ala51_Gly52insAlaAlaAlaAla)	Guttmacher syndrome [RCV005033723]	uncertain significance	7	27199949	27199950	Human	1	name
150416331	CV1192636	duplication	NM_000522.5(HOXA13):c.360_377dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAla)	Hand-foot-genital syndrome [RCV001568360]	pathogenic\|likely pathogenic	7	27199700	27199701	Human	1	name
13832511	CV583006	insertion	NM_000522.5(HOXA13):c.421_422insAGGCGGGCC (p.Gly140_Pro141insGlnAlaGly)	not provided [RCV000723201]	benign\|uncertain significance	7	27199656	27199657	Human		name
597933879	CV3750359	duplication	NM_000522.5(HOXA13):c.375_395dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAlaAla)	not provided [RCV005076284]	uncertain significance	7	27199682	27199683	Human		name
156149469	CV2175251	duplication	NM_000522.5(HOXA13):c.375_398dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAlaAlaAla)	not provided [RCV003040322]	uncertain significance	7	27199679	27199680	Human		name
8600008	CV29930	duplication	NM_000522.5(HOXA13):c.366_389dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAlaAlaAla)	Hand-foot-genital syndrome [RCV000016020]	pathogenic	7	27199688	27199689	Human	1	name
156055531	CV2089838	duplication	NM_000522.5(HOXA13):c.126_152dup (p.Ala51_Gly52insAlaAlaAlaAlaAlaAlaAlaAlaAla)	not provided [RCV002867925]	uncertain significance	7	27199925	27199926	Human		name
8600011	CV29934	duplication	NM_000522.5(HOXA13):c.366_392dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAlaAlaAlaAla)	Hand-foot-genital syndrome [RCV000016024]	pathogenic	7	27199685	27199686	Human	1	name

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