Bmp4 Variant Search Result - Rat Genome Database

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271 records found for search term Bmp4

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
597689169	CV3710811	single nucleotide variant	NM_001202.6(BMP4):c.*4C>G	Microphthalmia with brain and digit anomalies [RCV005007203]	likely benign	14	53950028	53950028	Human	1	name
401913643	CV2798994	single nucleotide variant	NM_001202.6(BMP4):c.-97G>T	BMP4-related disorder [RCV003400191]	uncertain significance	14	53953365	53953365	Human		name , trait , alternate_id
405280781	CV3190545	single nucleotide variant	NM_001202.6(BMP4):c.-87C>T	BMP4-related disorder [RCV003906984]	benign	14	53953355	53953355	Human		name , trait , alternate_id
11664910	CV329506	single nucleotide variant	NM_001202.6(BMP4):c.*88C>T	Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000336899]\|Microphthalmia with brain and digit anomalies [RCV000398557]\|Orofacial cleft 11 [RCV000283482]\|not provided [RCV001618549]	benign\|likely benign	14	53949944	53949944	Human	3	name
11664981	CV329507	single nucleotide variant	NM_001202.6(BMP4):c.*35C>G	Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000340809]\|Orofacial cleft 11 [RCV000391417]\|Syndromic Microphthalmia, Dominant [RCV000305941]	uncertain significance	14	53949997	53949997	Human	3	name
28911517	CV871932	single nucleotide variant	NM_001202.6(BMP4):c.*31T>A	Microphthalmia with brain and digit anomalies [RCV001110692]\|Orofacial cleft 11 [RCV001110691]	likely benign\|uncertain significance	14	53950001	53950001	Human	2	name
28911518	CV871933	single nucleotide variant	NM_001202.6(BMP4):c.*28A>T	Microphthalmia with brain and digit anomalies [RCV001110694]\|Orofacial cleft 11 [RCV001110693]	benign\|likely benign	14	53950004	53950004	Human	2	name
150416336	CV1181173	deletion	NM_001202.6(BMP4):c.*148del	not provided [RCV001549565]	likely benign	14	53949884	53949884	Human		name
11664867	CV320698	single nucleotide variant	NM_001202.6(BMP4):c.*148A>T	Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000265565]\|Microphthalmia with brain and digit anomalies [RCV000304196]\|Orofacial cleft 11 [RCV000269148]\|not provided [RCV004705291]	benign\|likely benign	14	53949884	53949884	Human	3	name
11664889	CV320704	single nucleotide variant	NM_001202.6(BMP4):c.*143A>T	Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000364994]\|Orofacial cleft 11 [RCV000326517]\|Syndromic Microphthalmia, Dominant [RCV000272736]	uncertain significance	14	53949889	53949889	Human	3	name
405288148	CV3208341	single nucleotide variant	NM_001202.6(BMP4):c.-365C>G	BMP4-related disorder [RCV003924779]	uncertain significance	14	53956782	53956782	Human		name , trait , alternate_id
405278842	CV3212706	single nucleotide variant	NM_001202.6(BMP4):c.-335G>C	BMP4-related disorder [RCV003954730]	likely benign	14	53956752	53956752	Human		name , trait , alternate_id
11664919	CV329500	single nucleotide variant	NM_001202.6(BMP4):c.*251C>T	Microphthalmia with brain and digit anomalies [RCV000304420]\|Orofacial cleft 11 [RCV000281922]\|Orofacial cleft [RCV000392088]	benign\|likely benign\|uncertain significance	14	53949781	53949781	Human	4	name
11664909	CV329501	deletion	NM_001202.6(BMP4):c.*150del	BMP4-Related Syndromic Microphthalmia [RCV000319852]\|Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000279585]\|Orofacial cleft [RCV000307921]\|Syndromic Microphthalmia, Dominant [RCV000333475]\|not provided [RCV004693170]	uncertain significance	14	53949882	53949882	Human	5	name , trait
11664901	CV329508	single nucleotide variant	NM_001202.6(BMP4):c.-146T>C	Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000276539]\|Microphthalmia with brain and digit anomalies [RCV000297665]\|Orofacial cleft 11 [RCV000371089]	benign\|likely benign	14	53956563	53956563	Human	3	name
11664892	CV329509	single nucleotide variant	NM_001202.6(BMP4):c.-342G>A	Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000367518]\|Orofacial cleft 11 [RCV000312897]\|Syndromic Microphthalmia, Dominant [RCV000272960]	uncertain significance	14	53956759	53956759	Human	3	name
11664905	CV336094	single nucleotide variant	NM_001202.6(BMP4):c.*272A>G	Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000392095]\|Orofacial cleft 11 [RCV000278710]\|Syndromic Microphthalmia, Dominant [RCV000336144]	uncertain significance	14	53949760	53949760	Human	3	name
11664962	CV336096	single nucleotide variant	NM_001202.6(BMP4):c.*149G>A	Orofacial cleft 11 [RCV000408409]\|Orofacial cleft [RCV000334903]\|Syndromic Microphthalmia, Dominant [RCV000299933]\|not provided [RCV003389792]	benign\|uncertain significance	14	53949883	53949883	Human	4	name
11664953	CV338038	single nucleotide variant	NM_001202.6(BMP4):c.*131A>T	Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000294998]\|Orofacial cleft 11 [RCV000333573]\|Syndromic Microphthalmia, Dominant [RCV000371833]	uncertain significance	14	53949901	53949901	Human	3	name
408378343	CV3512099	single nucleotide variant	NM_001202.6(BMP4):c.-347A>T	BMP4-related disorder [RCV004752220]	uncertain significance	14	53956764	53956764	Human		name , trait , alternate_id
28871154	CV871931	single nucleotide variant	NM_001202.6(BMP4):c.*254A>T	Orofacial cleft 11 [RCV001113926]	uncertain significance	14	53949778	53949778	Human	1	name
28868847	CV871939	single nucleotide variant	NM_001202.6(BMP4):c.-155G>A	Microphthalmia with brain and digit anomalies [RCV001112767]\|Orofacial cleft 11 [RCV001110776]	benign\|likely benign	14	53956572	53956572	Human	2	name
28868850	CV871940	single nucleotide variant	NM_001202.6(BMP4):c.-251C>G	Orofacial cleft 11 [RCV001112768]	uncertain significance	14	53956668	53956668	Human	1	name
28868853	CV871941	single nucleotide variant	NM_001202.6(BMP4):c.-329T>C	Orofacial cleft 11 [RCV001112769]	uncertain significance	14	53956746	53956746	Human	1	name
150407936	CV1182456	single nucleotide variant	NM_001202.6(BMP4):c.-7-39A>G	Microphthalmia with brain and digit anomalies [RCV001554240]\|not provided [RCV001707909]	benign	14	53952268	53952268	Human	1	name
150407939	CV1182457	single nucleotide variant	NM_001202.6(BMP4):c.-8+29C>T	Microphthalmia with brain and digit anomalies [RCV001554241]\|not provided [RCV004716777]	benign	14	53953247	53953247	Human	1	name
150535419	CV1300556	single nucleotide variant	NM_001202.6(BMP4):c.370+1G>T	not provided [RCV001758684]	uncertain significance	14	53951852	53951852	Human		name
405854079	CV3395831	single nucleotide variant	NM_001202.6(BMP4):c.371-2A>G	Microphthalmia with brain and digit anomalies [RCV004556167]	likely pathogenic	14	53950890	53950890	Human	1	name
597676368	CV3710836	single nucleotide variant	NM_001202.6(BMP4):c.371-8G>A	Microphthalmia with brain and digit anomalies [RCV005005653]	uncertain significance	14	53950896	53950896	Human	1	name
127309324	CV1157270	single nucleotide variant	NM_001202.6(BMP4):c.-7-159T>G	Microphthalmia with brain and digit anomalies [RCV001517843]\|not provided [RCV001676010]	benign	14	53952388	53952388	Human	1	name
127309329	CV1157271	single nucleotide variant	NM_001202.6(BMP4):c.-7-163C>G	Microphthalmia with brain and digit anomalies [RCV001517844]\|not provided [RCV001597285]	benign	14	53952392	53952392	Human	1	name
150406974	CV1194845	single nucleotide variant	NM_001202.6(BMP4):c.371-24C>T	not provided [RCV001572196]	likely benign	14	53950912	53950912	Human		name
150473139	CV1281375	single nucleotide variant	NM_001202.6(BMP4):c.-7-133G>C	not provided [RCV001713481]	benign	14	53952362	53952362	Human		name
156269770	CV2026842	single nucleotide variant	NM_001202.6(BMP4):c.370+19T>C	Microphthalmia with brain and digit anomalies [RCV002746597]	likely benign	14	53951834	53951834	Human	1	name
11664903	CV336109	single nucleotide variant	NM_001202.6(BMP4):c.370+12C>T	Orofacial cleft 11 [RCV000331749]\|Orofacial cleft [RCV000369966]\|Syndromic Microphthalmia, Dominant [RCV000277850]	uncertain significance	14	53951841	53951841	Human	4	name
597856361	CV3870754	single nucleotide variant	NM_001202.6(BMP4):c.370+20C>T	Microphthalmia with brain and digit anomalies [RCV005228955]	likely benign	14	53951833	53951833	Human	1	name
597857848	CV3877871	single nucleotide variant	NM_001202.6(BMP4):c.370+12C>G	Microphthalmia with brain and digit anomalies [RCV005229180]	likely benign	14	53951841	53951841	Human	1	name
13462776	CV438960	single nucleotide variant	NM_001202.6(BMP4):c.370+28G>A	Microphthalmia with brain and digit anomalies [RCV001515453]\|not provided [RCV000514808]\|not specified [RCV000727687]	benign\|likely benign	14	53951825	53951825	Human	1	name
127309319	CV1157269	single nucleotide variant	NM_001202.6(BMP4):c.370+160C>T	Microphthalmia with brain and digit anomalies [RCV001517842]\|not provided [RCV001638112]	benign	14	53951693	53951693	Human	1	name
401830626	CV2473271	single nucleotide variant	NM_001202.6(BMP4):c.370+441G>A	Kapur-Toriello syndrome [RCV003326066]	uncertain significance	14	53951412	53951412	Human	1	name
150407942	CV1182458	single nucleotide variant	NM_001202.6(BMP4):c.-132-117A>G	Microphthalmia with brain and digit anomalies [RCV001554242]\|not provided [RCV004715520]	benign	14	53953517	53953517	Human	1	name
152035067	CV1670084	deletion	NM_001202.6(BMP4):c.-8_-8+40del	not provided [RCV002223618]	uncertain significance	14	53953236	53953276	Human		name
401902017	CV2810431	duplication	NM_001202.6(BMP4):c.147_148dup	not provided [RCV003393435]	benign	14	53949883	53949884	Human		name
11664886	CV336097	deletion	NM_001202.6(BMP4):c.148_149del	BMP4-Related Syndromic Microphthalmia [RCV000368043]\|Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000329666]\|Orofacial cleft [RCV000276116]\|Syndromic Microphthalmia, Dominant [RCV000272234]\|not provided [RCV001540170]	benign\|uncertain significance	14	53949883	53949884	Human	5	name , trait
11664949	CV336106	duplication	NM_001202.6(BMP4):c.146_148dup	BMP4-Related Syndromic Microphthalmia [RCV000315014]\|Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000292892]\|Orofacial cleft [RCV000350277]\|Syndromic Microphthalmia, Dominant [RCV000408416]\|not provided [RCV001642974]	benign\|uncertain significance	14	53949883	53949884	Human	5	name , trait
11664937	CV338023	deletion	NM_001202.6(BMP4):c.145_149del	BMP4-Related Syndromic Microphthalmia [RCV000391556]\|Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000345407]\|Orofacial cleft [RCV000310719]\|Syndromic Microphthalmia, Dominant [RCV000288055]	uncertain significance	14	53949883	53949887	Human	5	name , trait
11664995	CV320697	insertion	NM_001202.6(BMP4):c.148_149insT	BMP4-Related Syndromic Microphthalmia [RCV000391547]\|Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000349187]\|Orofacial cleft [RCV000314154]\|Syndromic Microphthalmia, Dominant [RCV000371315]\|not provided [RCV001683260]	benign\|uncertain significance	14	53949883	53949884	Human	5	name , trait
11664860	CV338009	insertion	NM_001202.6(BMP4):c.148_149insAT	BMP4-Related Syndromic Microphthalmia [RCV000299171]\|Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000262764]\|Orofacial cleft [RCV000284761]\|Syndromic Microphthalmia, Dominant [RCV000260248]\|not provided [RCV001723897]	benign\|uncertain significance	14	53949883	53949884	Human	5	name , trait
11664940	CV338016	insertion	NM_001202.6(BMP4):c.148_149insAG	BMP4-Related Syndromic Microphthalmia [RCV000289496]\|Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000384935]\|Orofacial cleft [RCV000346822]\|Syndromic Microphthalmia, Dominant [RCV000381643]	uncertain significance	14	53949883	53949884	Human	5	name , trait
11664874	CV329502	insertion	NM_001202.6(BMP4):c.148_149insAAT	BMP4-Related Syndromic Microphthalmia [RCV000324834]\|Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000320310]\|Orofacial cleft [RCV000267337]\|Syndromic Microphthalmia, Dominant [RCV000377294]\|not provided [RCV001538484]	benign\|uncertain significance	14	53949883	53949884	Human	5	name , trait
155986017	CV2159703	single nucleotide variant	NM_001202.6(BMP4):c.63G>C (p.Ala21=)	BMP4-related disorder [RCV003953821]\|Microphthalmia with brain and digit anomalies [RCV003034099]	likely benign	14	53952160	53952160	Human	2	name , trait , alternate_id
156240874	CV2177110	single nucleotide variant	NM_001202.6(BMP4):c.63G>A (p.Ala21=)	Microphthalmia with brain and digit anomalies [RCV003043438]	likely benign	14	53952160	53952160	Human	1	name
13501927	CV463821	single nucleotide variant	NM_001202.6(BMP4):c.76T>C (p.Leu26=)	Microphthalmia with brain and digit anomalies [RCV000541449]\|Microphthalmia with brain and digit anomalies [RCV001110775]\|Orofacial cleft 11 [RCV001110774]\|not provided [RCV001529820]\|not specified [RCV001701039]	benign\|likely benign\|uncertain significance	14	53952147	53952147	Human	2	name
15099299	CV682864	single nucleotide variant	NM_001202.6(BMP4):c.4A>T (p.Ile2Phe)	Aplasia/hypoplasia involving bones of the lower limbs [RCV000856839]\|Microphthalmia with brain and digit anomalies [RCV005004461]	uncertain significance	14	53952219	53952219	Human	4	name
15113982	CV725691	single nucleotide variant	NM_001202.6(BMP4):c.93G>C (p.Gly31=)	Microphthalmia with brain and digit anomalies [RCV000894772]	likely benign	14	53952130	53952130	Human	1	name
15141553	CV784730	single nucleotide variant	NM_001202.6(BMP4):c.51G>C (p.Leu17=)	not provided [RCV000982999]	likely benign	14	53952172	53952172	Human		name
151820275	CV1378355	single nucleotide variant	NM_001202.6(BMP4):c.17G>A (p.Arg6Gln)	Microphthalmia with brain and digit anomalies [RCV002029825]	uncertain significance	14	53952206	53952206	Human	1	name
152094246	CV1648850	single nucleotide variant	NM_001202.6(BMP4):c.159C>T (p.Leu53=)	Microphthalmia with brain and digit anomalies [RCV002078121]	likely benign	14	53952064	53952064	Human	1	name
152144325	CV1651654	single nucleotide variant	NM_001202.6(BMP4):c.240G>T (p.Pro80=)	Microphthalmia with brain and digit anomalies [RCV002138589]	likely benign	14	53951983	53951983	Human	1	name
156412989	CV1891498	single nucleotide variant	NM_001202.6(BMP4):c.213G>T (p.Pro71=)	Microphthalmia with brain and digit anomalies [RCV003073111]	benign	14	53952010	53952010	Human	1	name
156177504	CV2023156	single nucleotide variant	NM_001202.6(BMP4):c.123C>T (p.His41=)	Microphthalmia with brain and digit anomalies [RCV002765510]	likely benign	14	53952100	53952100	Human	1	name
405003526	CV3095690	single nucleotide variant	NM_001202.6(BMP4):c.231C>T (p.Ala77=)	Microphthalmia with brain and digit anomalies [RCV003793995]	likely benign	14	53951992	53951992	Human	1	name
404999983	CV3099220	single nucleotide variant	NM_001202.6(BMP4):c.180A>G (p.Thr60=)	Microphthalmia with brain and digit anomalies [RCV003793641]	likely benign	14	53952043	53952043	Human	1	name
11664918	CV336119	single nucleotide variant	NM_001202.6(BMP4):c.288A>G (p.Glu96=)	Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000377211]\|Orofacial cleft 11 [RCV000320231]\|Syndromic Microphthalmia, Dominant [RCV000373611]	uncertain significance	14	53951935	53951935	Human	3	name
597689271	CV3710839	single nucleotide variant	NM_001202.6(BMP4):c.222C>T (p.Ser74=)	Microphthalmia with brain and digit anomalies [RCV005007213]	uncertain significance	14	53952001	53952001	Human	1	name
597841253	CV3873687	single nucleotide variant	NM_001202.6(BMP4):c.168C>T (p.Asp56=)	Microphthalmia with brain and digit anomalies [RCV005226514]	likely benign	14	53952055	53952055	Human	1	name
13214410	CV429580	single nucleotide variant	NM_001202.6(BMP4):c.252G>A (p.Arg84=)	Microphthalmia with brain and digit anomalies [RCV002060105]\|not specified [RCV000501077]	likely benign	14	53951971	53951971	Human	1	name
15171863	CV739240	single nucleotide variant	NM_001202.6(BMP4):c.108C>T (p.Ala36=)	not provided [RCV000905552]	likely benign	14	53952115	53952115	Human		name
28871356	CV871937	single nucleotide variant	NM_001202.6(BMP4):c.291G>A (p.Glu97=)	Orofacial cleft 11 [RCV001114030]	uncertain significance	14	53951932	53951932	Human	1	name
150489736	CV1274503	single nucleotide variant	NM_001202.6(BMP4):c.348C>T (p.Thr116=)	Microphthalmia with brain and digit anomalies [RCV002073285]\|not provided [RCV001727947]\|not specified [RCV001700537]	benign\|likely benign	14	53951875	53951875	Human	1	name
150534231	CV1300481	single nucleotide variant	NM_001202.6(BMP4):c.351G>A (p.Val117=)	Microphthalmia with brain and digit anomalies [RCV002540412]\|not provided [RCV001758609]	likely benign\|uncertain significance	14	53951872	53951872	Human	1	name
152154895	CV1563690	single nucleotide variant	NM_001202.6(BMP4):c.510T>C (p.Asp170=)	Microphthalmia with brain and digit anomalies [RCV002202528]	likely benign	14	53950749	53950749	Human	1	name
152052694	CV1659161	single nucleotide variant	NM_001202.6(BMP4):c.357C>T (p.Ser119=)	Microphthalmia with brain and digit anomalies [RCV002189605]	likely benign	14	53951866	53951866	Human	1	name
156404521	CV1883383	single nucleotide variant	NM_001202.6(BMP4):c.89C>T (p.Thr30Met)	BMP4-related disorder [RCV003404067]\|Microphthalmia with brain and digit anomalies [RCV003069750]	uncertain significance	14	53952134	53952134	Human	2	name , trait , alternate_id
156189859	CV1934061	single nucleotide variant	NM_001202.6(BMP4):c.813C>T (p.Leu271=)	BMP4-related disorder [RCV003946335]\|Microphthalmia with brain and digit anomalies [RCV002625324]	likely benign	14	53950446	53950446	Human	2	name , trait , alternate_id
156018699	CV2044303	single nucleotide variant	NM_001202.6(BMP4):c.348C>G (p.Thr116=)	Microphthalmia with brain and digit anomalies [RCV002795477]	uncertain significance	14	53951875	53951875	Human	1	name
155904713	CV2137621	single nucleotide variant	NM_001202.6(BMP4):c.810C>A (p.Pro270=)	Microphthalmia with brain and digit anomalies [RCV003011849]	likely benign	14	53950449	53950449	Human	1	name
156343228	CV2364081	single nucleotide variant	NM_001202.6(BMP4):c.88A>G (p.Thr30Ala)	Inborn genetic diseases [RCV002674694]\|Microphthalmia with brain and digit anomalies [RCV005227862]	uncertain significance	14	53952135	53952135	Human	2	name
243064945	CV2409513	single nucleotide variant	NM_001202.6(BMP4):c.43C>G (p.Gln15Glu)	not provided [RCV003143803]	uncertain significance	14	53952180	53952180	Human		name
405024068	CV3081999	single nucleotide variant	NM_001202.6(BMP4):c.615C>A (p.Val205=)	Microphthalmia with brain and digit anomalies [RCV003785605]	likely benign	14	53950644	53950644	Human	1	name
402507431	CV3090648	single nucleotide variant	NM_001202.6(BMP4):c.762T>C (p.Ile254=)	Microphthalmia with brain and digit anomalies [RCV003789264]	likely benign	14	53950497	53950497	Human	1	name
405034743	CV3093090	single nucleotide variant	NM_001202.6(BMP4):c.954C>T (p.Ser318=)	BMP4-related disorder [RCV003893391]\|Microphthalmia with brain and digit anomalies [RCV003786441]	likely benign	14	53950305	53950305	Human	2	name , trait , alternate_id
405171695	CV3104586	single nucleotide variant	NM_001202.6(BMP4):c.519G>A (p.Arg173=)	Microphthalmia with brain and digit anomalies [RCV003803084]	likely benign	14	53950740	53950740	Human	1	name
405274154	CV3211532	single nucleotide variant	NM_001202.6(BMP4):c.942T>C (p.Tyr314=)	BMP4-related disorder [RCV003951369]	likely benign	14	53950317	53950317	Human		name , trait , alternate_id
597676342	CV3710832	single nucleotide variant	NM_001202.6(BMP4):c.654C>T (p.Ser218=)	Microphthalmia with brain and digit anomalies [RCV005005651]	uncertain significance	14	53950605	53950605	Human	1	name
597676428	CV3710845	single nucleotide variant	NM_001202.6(BMP4):c.41G>A (p.Cys14Tyr)	Microphthalmia with brain and digit anomalies [RCV005005658]	uncertain significance	14	53952182	53952182	Human	1	name
8567810	CV38571	duplication	NM_001202.6(BMP4):c.171dup (p.Glu58fs)	Microphthalmia with brain and digit anomalies [RCV000022457]	pathogenic	14	53952051	53952052	Human	1	name
597867042	CV3869016	single nucleotide variant	NM_001202.6(BMP4):c.483C>T (p.Phe161=)	Microphthalmia with brain and digit anomalies [RCV005215137]	likely benign	14	53950776	53950776	Human	1	name
597859410	CV3878038	single nucleotide variant	NM_001202.6(BMP4):c.666T>C (p.Leu222=)	Microphthalmia with brain and digit anomalies [RCV005229348]	likely benign	14	53950593	53950593	Human	1	name
597842785	CV3878353	single nucleotide variant	NM_001202.6(BMP4):c.957T>C (p.Asp319=)	Microphthalmia with brain and digit anomalies [RCV005226842]	likely benign	14	53950302	53950302	Human	1	name
597843211	CV3878430	single nucleotide variant	NM_001202.6(BMP4):c.309T>C (p.Gly103=)	Microphthalmia with brain and digit anomalies [RCV005226920]	likely benign	14	53951914	53951914	Human	1	name
13794463	CV553355	single nucleotide variant	NM_001202.6(BMP4):c.58G>A (p.Gly20Ser)	Tooth agenesis [RCV001784307]	uncertain significance	14	53952165	53952165	Human	2	name
15153181	CV702899	single nucleotide variant	NM_001202.6(BMP4):c.345C>T (p.Asn115=)	Microphthalmia with brain and digit anomalies [RCV000946030]\|Microphthalmia with brain and digit anomalies [RCV001114027]\|Orofacial cleft 11 [RCV001114026]\|not provided [RCV001578226]\|not specified [RCV001700514]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	53951878	53951878	Human	2	name
15132554	CV714162	single nucleotide variant	NM_001202.6(BMP4):c.624T>C (p.Asn208=)	Microphthalmia with brain and digit anomalies [RCV002547293]	likely benign	14	53950635	53950635	Human	1	name
15132448	CV714163	single nucleotide variant	NM_001202.6(BMP4):c.450C>T (p.Asn150=)	Microphthalmia with brain and digit anomalies [RCV002548303]	benign	14	53950809	53950809	Human	1	name
15133265	CV739237	single nucleotide variant	NM_001202.6(BMP4):c.582C>T (p.His194=)	not provided [RCV000898103]	likely benign	14	53950677	53950677	Human		name
15159983	CV754073	single nucleotide variant	NM_001202.6(BMP4):c.315G>A (p.Glu105=)	Microphthalmia with brain and digit anomalies [RCV000925392]	likely benign	14	53951908	53951908	Human	1	name
28868709	CV871934	single nucleotide variant	NM_001202.6(BMP4):c.753T>C (p.His251=)	BMP4-related disorder [RCV003906210]\|Microphthalmia with brain and digit anomalies [RCV001856490]\|Orofacial cleft 11 [RCV001112671]	likely benign\|uncertain significance	14	53950506	53950506	Human	2	name , trait , alternate_id
8635237	CV90459	single nucleotide variant	NM_001202.3(BMP4):c.906G>A (p.Arg302=)	Malignant melanoma [RCV000070557]	not provided	14	53950353	53950353	Human		name
127230349	CV1087082	deletion	NM_001202.6(BMP4):c.666del (p.Arg223fs)	See cases [RCV001420254]	likely pathogenic	14	53950593	53950593	Human		name
150453130	CV1275385	single nucleotide variant	NM_001202.6(BMP4):c.184C>G (p.Leu62Val)	Microphthalmia with brain and digit anomalies [RCV003992540]\|Microphthalmia with brain and digit anomalies [RCV005005993]\|Orofacial cleft 11 [RCV001706899]	uncertain significance	14	53952039	53952039	Human	2	name
151781845	CV1341940	single nucleotide variant	NM_001202.6(BMP4):c.118G>A (p.Gly40Ser)	Inborn genetic diseases [RCV004041245]\|Microphthalmia with brain and digit anomalies [RCV001897316]	likely benign\|uncertain significance	14	53952105	53952105	Human	2	name
151825333	CV1393701	single nucleotide variant	NM_001202.6(BMP4):c.295A>G (p.Ile99Val)	Microphthalmia with brain and digit anomalies [RCV002030288]	uncertain significance	14	53951928	53951928	Human	1	name
151733611	CV1477603	single nucleotide variant	NM_001202.6(BMP4):c.153T>G (p.His51Gln)	Microphthalmia with brain and digit anomalies [RCV001967361]	uncertain significance	14	53952070	53952070	Human	1	name
151884546	CV1497774	single nucleotide variant	NM_001202.6(BMP4):c.220A>G (p.Ser74Gly)	Microphthalmia with brain and digit anomalies [RCV001962357]	uncertain significance	14	53952003	53952003	Human	1	name
151719226	CV1505820	single nucleotide variant	NM_001202.6(BMP4):c.200T>A (p.Leu67Gln)	Microphthalmia with brain and digit anomalies [RCV002039819]	uncertain significance	14	53952023	53952023	Human	1	name
152077274	CV1531295	single nucleotide variant	NM_001202.6(BMP4):c.1179A>G (p.Val393=)	Microphthalmia with brain and digit anomalies [RCV002210762]	likely benign	14	53950080	53950080	Human	1	name
152104136	CV1622559	single nucleotide variant	NM_001202.6(BMP4):c.1032A>G (p.Pro344=)	BMP4-related disorder [RCV003958578]\|Microphthalmia with brain and digit anomalies [RCV002214572]	likely benign	14	53950227	53950227	Human	2	name , trait , alternate_id
155799390	CV1862476	single nucleotide variant	NM_001202.6(BMP4):c.169T>C (p.Phe57Leu)	Orofacial cleft 11 [RCV002471882]	uncertain significance	14	53952054	53952054	Human	1	name
156314090	CV1874706	single nucleotide variant	NM_001202.6(BMP4):c.250C>T (p.Arg84Trp)	Microphthalmia with brain and digit anomalies [RCV003062632]	uncertain significance	14	53951973	53951973	Human	1	name
156246456	CV1890422	single nucleotide variant	NM_001202.6(BMP4):c.168C>A (p.Asp56Glu)	Microphthalmia with brain and digit anomalies [RCV003085943]	uncertain significance	14	53952055	53952055	Human	1	name
156378984	CV1903224	single nucleotide variant	NM_001202.6(BMP4):c.1209G>A (p.Glu403=)	Microphthalmia with brain and digit anomalies [RCV003093117]	likely benign	14	53950050	53950050	Human	1	name
156183634	CV2033711	single nucleotide variant	NM_001202.6(BMP4):c.280G>A (p.Glu94Lys)	Microphthalmia with brain and digit anomalies [RCV002765691]	uncertain significance	14	53951943	53951943	Human	1	name
156142864	CV2268753	single nucleotide variant	NM_001202.6(BMP4):c.251G>A (p.Arg84Gln)	Inborn genetic diseases [RCV002826310]\|Microphthalmia with brain and digit anomalies [RCV003777797]	uncertain significance	14	53951972	53951972	Human	2	name
243064944	CV2409512	single nucleotide variant	NM_001202.6(BMP4):c.101A>G (p.Lys34Arg)	not provided [RCV003143802]	uncertain significance	14	53952122	53952122	Human		name
401887907	CV2768833	single nucleotide variant	NM_001202.6(BMP4):c.119G>A (p.Gly40Asp)	Inborn genetic diseases [RCV003352643]	likely benign	14	53952104	53952104	Human	1	name
401912925	CV2830089	single nucleotide variant	NM_001202.6(BMP4):c.277G>T (p.Glu93Ter)	not provided [RCV003441303]	pathogenic	14	53951946	53951946	Human		name
405053197	CV3094908	single nucleotide variant	NM_001202.6(BMP4):c.163C>T (p.Arg55Trp)	Microphthalmia with brain and digit anomalies [RCV003798222]	uncertain significance	14	53952060	53952060	Human	1	name
405028799	CV3095771	single nucleotide variant	NM_001202.6(BMP4):c.171C>G (p.Phe57Leu)	Microphthalmia with brain and digit anomalies [RCV003796268]	uncertain significance	14	53952052	53952052	Human	1	name
405092370	CV3105228	single nucleotide variant	NM_001202.6(BMP4):c.262C>T (p.Arg88Trp)	Microphthalmia with brain and digit anomalies [RCV003801111]	uncertain significance	14	53951961	53951961	Human	1	name
405057109	CV3108140	single nucleotide variant	NM_001202.6(BMP4):c.293A>G (p.Gln98Arg)	Microphthalmia with brain and digit anomalies [RCV003808718]	uncertain significance	14	53951930	53951930	Human	1	name
405274312	CV3195071	single nucleotide variant	NM_001202.6(BMP4):c.1176G>A (p.Val392=)	BMP4-related disorder [RCV003902311]	likely benign	14	53950083	53950083	Human		name , trait , alternate_id
405285862	CV3209737	single nucleotide variant	NM_001202.6(BMP4):c.1026C>G (p.Pro342=)	BMP4-related disorder [RCV003959299]	likely benign	14	53950233	53950233	Human		name , trait , alternate_id
8600698	CV32740	single nucleotide variant	NM_001202.6(BMP4):c.278A>G (p.Glu93Gly)	Microphthalmia with brain and digit anomalies [RCV000019275]\|not provided [RCV005243100]	pathogenic\|likely benign	14	53951945	53951945	Human	1	name
8600700	CV32742	single nucleotide variant	NM_001202.6(BMP4):c.272C>G (p.Ser91Cys)	Microphthalmia with brain and digit anomalies [RCV001109988]\|Microphthalmia with brain and digit anomalies [RCV002054447]\|Orofacial cleft 11 [RCV000019277]\|not provided [RCV003390692]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	53951951	53951951	Human	2	name
405749577	CV3291223	single nucleotide variant	NM_001202.6(BMP4):c.167A>T (p.Asp56Val)	Inborn genetic diseases [RCV004431893]	uncertain significance	14	53952056	53952056	Human	1	name
11664931	CV336131	single nucleotide variant	NM_001202.6(BMP4):c.224A>G (p.Lys75Arg)	Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000344659]\|Microphthalmia with brain and digit anomalies [RCV002480133]\|Orofacial cleft 11 [RCV000289710]\|Syndromic Microphthalmia, Dominant [RCV000400269]\|not provided [RCV000438985]	uncertain significance	14	53951999	53951999	Human	4	name
11664967	CV336135	single nucleotide variant	NM_001202.6(BMP4):c.215A>G (p.Gln72Arg)	Microphthalmia with brain and digit anomalies [RCV000393894]\|Microphthalmia with brain and digit anomalies [RCV005003637]\|Orofacial cleft 11 [RCV000341050]\|Orofacial cleft [RCV000301329]\|not provided [RCV000439978]	likely benign\|uncertain significance	14	53952008	53952008	Human	4	name
408387147	CV3524417	single nucleotide variant	NM_001202.6(BMP4):c.248T>G (p.Met83Arg)	not provided [RCV004768291]	uncertain significance	14	53951975	53951975	Human		name
408392251	CV3525170	deletion	NM_001202.6(BMP4):c.676del (p.Arg226fs)	not provided [RCV004771056]	uncertain significance	14	53950583	53950583	Human		name
408393618	CV3529535	deletion	NM_001202.6(BMP4):c.602del (p.Asp201fs)	Microphthalmia with brain and digit anomalies [RCV004776376]	likely pathogenic	14	53950657	53950657	Human	1	name
597689260	CV3710838	single nucleotide variant	NM_001202.6(BMP4):c.239C>G (p.Pro80Arg)	Microphthalmia with brain and digit anomalies [RCV005007212]	uncertain significance	14	53951984	53951984	Human	1	name
597689281	CV3710840	single nucleotide variant	NM_001202.6(BMP4):c.208C>T (p.Arg70Cys)	Microphthalmia with brain and digit anomalies [RCV005007214]	uncertain significance	14	53952015	53952015	Human	1	name
597689289	CV3710841	single nucleotide variant	NM_001202.6(BMP4):c.190A>T (p.Met64Leu)	Microphthalmia with brain and digit anomalies [RCV005007215]	uncertain significance	14	53952033	53952033	Human	1	name
597676401	CV3710843	single nucleotide variant	NM_001202.6(BMP4):c.123C>A (p.His41Gln)	Microphthalmia with brain and digit anomalies [RCV005005656]	uncertain significance	14	53952100	53952100	Human	1	name
597676414	CV3710844	single nucleotide variant	NM_001202.6(BMP4):c.111G>C (p.Glu37Asp)	Microphthalmia with brain and digit anomalies [RCV005005657]	uncertain significance	14	53952112	53952112	Human	1	name
597837197	CV3866758	single nucleotide variant	NM_001202.6(BMP4):c.164G>A (p.Arg55Gln)	Microphthalmia with brain and digit anomalies [RCV005225749]	uncertain significance	14	53952059	53952059	Human	1	name
598162055	CV3945881	single nucleotide variant	NM_001202.6(BMP4):c.176C>A (p.Ala59Glu)	Inborn genetic diseases [RCV005307133]	uncertain significance	14	53952047	53952047	Human	1	name
616938774	CV4015829	duplication	NM_001202.6(BMP4):c.323dup (p.Arg109fs)	Microphthalmia with brain and digit anomalies [RCV005414381]	likely pathogenic	14	53951899	53951900	Human	1	name
13832200	CV582692	single nucleotide variant	NM_001202.6(BMP4):c.197G>A (p.Gly66Glu)	not provided [RCV000722884]	uncertain significance	14	53952026	53952026	Human		name
15146956	CV693513	single nucleotide variant	NM_001202.6(BMP4):c.228T>A (p.Ser76Arg)	Microphthalmia with brain and digit anomalies [RCV000878648]\|Microphthalmia with brain and digit anomalies [RCV001109989]\|not provided [RCV004715352]	benign	14	53951995	53951995	Human	1	name
28911557	CV871938	single nucleotide variant	NM_001202.6(BMP4):c.124G>C (p.Ala42Pro)	BMP4-related disorder [RCV004751885]\|Inborn genetic diseases [RCV002558108]\|Microphthalmia with brain and digit anomalies [RCV001110773]\|Microphthalmia with brain and digit anomalies [RCV001856475]\|Orofacial cleft 11 [RCV001110772]\|not provided [RCV003238838]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	53952099	53952099	Human	3	name , trait , alternate_id
126770430	CV1011133	single nucleotide variant	NM_001202.6(BMP4):c.857G>A (p.Arg286Gln)	Inborn genetic diseases [RCV002545112]\|Microphthalmia with brain and digit anomalies [RCV001322566]	uncertain significance	14	53950402	53950402	Human	2	name
150425422	CV1184896	single nucleotide variant	NM_001202.6(BMP4):c.677G>A (p.Arg226Gln)	Microphthalmia with brain and digit anomalies [RCV002569000]\|not provided [RCV001557970]	likely benign\|uncertain significance	14	53950582	53950582	Human	1	name
150546178	CV1296153	single nucleotide variant	NM_001202.6(BMP4):c.818T>C (p.Val273Ala)	not provided [RCV001763443]	uncertain significance	14	53950441	53950441	Human		name
150555230	CV1297661	single nucleotide variant	NM_001202.6(BMP4):c.928C>T (p.Arg310Cys)	BMP4-related disorder [RCV003407792]\|Microphthalmia with brain and digit anomalies [RCV003771968]\|not provided [RCV001772568]	likely pathogenic\|uncertain significance	14	53950331	53950331	Human	2	name , trait , alternate_id
151235042	CV1318301	single nucleotide variant	NM_001202.6(BMP4):c.398G>A (p.Ser133Asn)	not provided [RCV001794624]	uncertain significance	14	53950861	53950861	Human		name
151351770	CV1321980	single nucleotide variant	NM_001202.6(BMP4):c.766C>T (p.Arg256Ter)	not provided [RCV001806650]	likely pathogenic	14	53950493	53950493	Human		name
151771687	CV1410933	single nucleotide variant	NM_001202.6(BMP4):c.436A>G (p.Ser146Gly)	Microphthalmia with brain and digit anomalies [RCV001971244]	uncertain significance	14	53950823	53950823	Human	1	name
151823223	CV1415246	single nucleotide variant	NM_001202.6(BMP4):c.568G>A (p.Val190Met)	Microphthalmia with brain and digit anomalies [RCV001954969]	uncertain significance	14	53950691	53950691	Human	1	name
151753434	CV1424689	single nucleotide variant	NM_001202.6(BMP4):c.475C>T (p.Arg159Trp)	Inborn genetic diseases [RCV004601558]\|Microphthalmia with brain and digit anomalies [RCV001894570]	uncertain significance	14	53950784	53950784	Human	2	name
151816758	CV1427290	single nucleotide variant	NM_001202.6(BMP4):c.668G>A (p.Arg223His)	Microphthalmia with brain and digit anomalies [RCV001878816]	uncertain significance	14	53950591	53950591	Human	1	name
151802077	CV1449697	single nucleotide variant	NM_001202.6(BMP4):c.481T>C (p.Phe161Leu)	Inborn genetic diseases [RCV004046212]\|Microphthalmia with brain and digit anomalies [RCV002048071]	uncertain significance	14	53950778	53950778	Human	2	name
151715832	CV1472686	single nucleotide variant	NM_001202.6(BMP4):c.979G>A (p.Val327Met)	Microphthalmia with brain and digit anomalies [RCV002039322]	uncertain significance	14	53950280	53950280	Human	1	name
152046617	CV1656379	single nucleotide variant	NM_001202.6(BMP4):c.485G>A (p.Arg162Gln)	Microphthalmia with brain and digit anomalies [RCV002126716]\|not specified [RCV002246674]	likely benign\|uncertain significance	14	53950774	53950774	Human	1	name
153001484	CV1684242	single nucleotide variant	NM_001202.6(BMP4):c.863G>A (p.Arg288Gln)	Inborn genetic diseases [RCV004047398]\|Microphthalmia with brain and digit anomalies [RCV002488636]\|not provided [RCV002256947]	likely benign\|uncertain significance	14	53950396	53950396	Human	2	name
155267385	CV1699591	single nucleotide variant	NM_001202.6(BMP4):c.733C>T (p.Arg245Trp)	Microphthalmia with brain and digit anomalies [RCV003774932]\|not provided [RCV003146533]\|not specified [RCV002283384]	uncertain significance	14	53950526	53950526	Human	1	name
155644903	CV1708858	single nucleotide variant	NM_001202.6(BMP4):c.683A>G (p.Lys228Arg)	not provided [RCV002291455]	uncertain significance	14	53950576	53950576	Human		name
156056782	CV1879662	single nucleotide variant	NM_001202.6(BMP4):c.862C>T (p.Arg288Trp)	Inborn genetic diseases [RCV004603282]\|Microphthalmia with brain and digit anomalies [RCV003053194]	uncertain significance	14	53950397	53950397	Human	2	name
156412987	CV1891497	single nucleotide variant	NM_001202.6(BMP4):c.731C>T (p.Thr244Ile)	Microphthalmia with brain and digit anomalies [RCV003073110]	likely benign	14	53950528	53950528	Human	1	name
156027793	CV1893356	single nucleotide variant	NM_001202.6(BMP4):c.839G>A (p.Arg280Gln)	Inborn genetic diseases [RCV005301244]\|Microphthalmia with brain and digit anomalies [RCV003077955]	uncertain significance	14	53950420	53950420	Human	2	name
156259546	CV1906445	single nucleotide variant	NM_001202.6(BMP4):c.632G>A (p.Arg211Gln)	Inborn genetic diseases [RCV003269448]\|Microphthalmia with brain and digit anomalies [RCV003086389]	uncertain significance	14	53950627	53950627	Human	2	name
156405060	CV1916854	single nucleotide variant	NM_001202.6(BMP4):c.605C>T (p.Thr202Met)	Microphthalmia with brain and digit anomalies [RCV002606242]	uncertain significance	14	53950654	53950654	Human	1	name
10048707	CV194351	single nucleotide variant	NM_001202.6(BMP4):c.455T>C (p.Val152Ala)	Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000366338]\|Microphthalmia with brain and digit anomalies [RCV000989226]\|Microphthalmia with brain and digit anomalies [RCV001515452]\|Orofacial cleft 11 [RCV000405370]\|not provided [RCV000835434]\|not specified [RCV000178157]	benign\|likely benign	14	53950804	53950804	Human	7	name
156155349	CV1967619	single nucleotide variant	NM_001202.6(BMP4):c.667C>T (p.Arg223Cys)	Microphthalmia with brain and digit anomalies [RCV002594282]	uncertain significance	14	53950592	53950592	Human	1	name
156122041	CV2020835	single nucleotide variant	NM_001202.6(BMP4):c.383A>G (p.Asn128Ser)	Microphthalmia with brain and digit anomalies [RCV002740236]	uncertain significance	14	53950876	53950876	Human	1	name
156203265	CV2021325	single nucleotide variant	NM_001202.6(BMP4):c.484C>T (p.Arg162Trp)	Microphthalmia with brain and digit anomalies [RCV002711477]	uncertain significance	14	53950775	53950775	Human	1	name
156225425	CV2048317	single nucleotide variant	NM_001202.6(BMP4):c.442C>T (p.Pro148Ser)	Microphthalmia with brain and digit anomalies [RCV002790794]	uncertain significance	14	53950817	53950817	Human	1	name
156326711	CV2054184	single nucleotide variant	NM_001202.6(BMP4):c.451G>A (p.Glu151Lys)	Microphthalmia with brain and digit anomalies [RCV002810436]	uncertain significance	14	53950808	53950808	Human	1	name
156030065	CV2059068	single nucleotide variant	NM_001202.6(BMP4):c.979G>T (p.Val327Leu)	Microphthalmia with brain and digit anomalies [RCV002796014]	uncertain significance	14	53950280	53950280	Human	1	name
156046039	CV2093289	single nucleotide variant	NM_001202.6(BMP4):c.671G>A (p.Trp224Ter)	Microphthalmia with brain and digit anomalies [RCV002867619]	uncertain significance	14	53950588	53950588	Human	1	name
155995499	CV2122549	single nucleotide variant	NM_001202.6(BMP4):c.476G>A (p.Arg159Gln)	Microphthalmia with brain and digit anomalies [RCV002974930]	uncertain significance	14	53950783	53950783	Human	1	name
156011448	CV2124618	single nucleotide variant	NM_001202.6(BMP4):c.838C>T (p.Arg280Trp)	Microphthalmia with brain and digit anomalies [RCV002948290]	uncertain significance	14	53950421	53950421	Human	1	name
156268403	CV2136326	single nucleotide variant	NM_001202.6(BMP4):c.416G>T (p.Arg139Leu)	Microphthalmia with brain and digit anomalies [RCV003009177]	uncertain significance	14	53950843	53950843	Human	1	name
156155918	CV2142381	single nucleotide variant	NM_001202.6(BMP4):c.416G>A (p.Arg139His)	Microphthalmia with brain and digit anomalies [RCV002982819]	uncertain significance	14	53950843	53950843	Human	1	name
156112573	CV2171784	single nucleotide variant	NM_001202.6(BMP4):c.859C>T (p.Arg287Cys)	Microphthalmia with brain and digit anomalies [RCV003039005]	uncertain significance	14	53950400	53950400	Human	1	name
156097851	CV2183690	single nucleotide variant	NM_001202.6(BMP4):c.430C>G (p.Leu144Val)	Microphthalmia with brain and digit anomalies [RCV003054610]	uncertain significance	14	53950829	53950829	Human	1	name
156270047	CV2195131	single nucleotide variant	NM_001202.6(BMP4):c.593G>A (p.Arg198Gln)	Inborn genetic diseases [RCV002669486]	uncertain significance	14	53950666	53950666	Human	1	name
156263230	CV2201149	single nucleotide variant	NM_001202.6(BMP4):c.496G>A (p.Asp166Asn)	Inborn genetic diseases [RCV002669084]	uncertain significance	14	53950763	53950763	Human	1	name
156235948	CV2268057	single nucleotide variant	NM_001202.6(BMP4):c.373C>T (p.His125Tyr)	Inborn genetic diseases [RCV002853944]	uncertain significance	14	53950886	53950886	Human	1	name
12907358	CV227358	single nucleotide variant	NM_001202.6(BMP4):c.751C>T (p.His251Tyr)	Microphthalmia with brain and digit anomalies [RCV000490360]\|Microphthalmia with brain and digit anomalies [RCV001395311]	likely benign\|uncertain significance	14	53950508	53950508	Human	1	name
243062422	CV2404861	single nucleotide variant	NM_001202.6(BMP4):c.734G>A (p.Arg245Gln)	Microphthalmia with brain and digit anomalies [RCV003225780]	uncertain significance	14	53950525	53950525	Human	1	name
11664942	CV271308	single nucleotide variant	NM_001202.6(BMP4):c.304A>G (p.Thr102Ala)	Microphthalmia with brain and digit anomalies [RCV005003611]\|not provided [RCV000290196]	uncertain significance	14	53951919	53951919	Human	1	name
401895852	CV2768995	single nucleotide variant	NM_001202.6(BMP4):c.769T>C (p.Ser257Pro)	Inborn genetic diseases [RCV003373453]	uncertain significance	14	53950490	53950490	Human	1	name
401894098	CV2770294	single nucleotide variant	NM_001202.6(BMP4):c.703G>C (p.Ala235Pro)	Inborn genetic diseases [RCV003371148]	uncertain significance	14	53950556	53950556	Human	1	name
401936488	CV2798576	single nucleotide variant	NM_001202.6(BMP4):c.326G>A (p.Arg109His)	BMP4-related disorder [RCV003414500]	uncertain significance	14	53951897	53951897	Human		name , trait , alternate_id
405001834	CV3082279	single nucleotide variant	NM_001202.6(BMP4):c.530G>A (p.Arg177His)	Microphthalmia with brain and digit anomalies [RCV003783536]	uncertain significance	14	53950729	53950729	Human	1	name
402524085	CV3086708	single nucleotide variant	NM_001202.6(BMP4):c.461C>T (p.Ser154Phe)	Microphthalmia with brain and digit anomalies [RCV003781325]	conflicting interpretations of pathogenicity\|uncertain significance	14	53950798	53950798	Human	1	name
402485722	CV3093820	single nucleotide variant	NM_001202.6(BMP4):c.817G>C (p.Val273Leu)	Microphthalmia with brain and digit anomalies [RCV003787021]	uncertain significance	14	53950442	53950442	Human	1	name
405019979	CV3094508	single nucleotide variant	NM_001202.6(BMP4):c.764G>A (p.Ser255Asn)	Microphthalmia with brain and digit anomalies [RCV003785198]	uncertain significance	14	53950495	53950495	Human	1	name
404982851	CV3100150	single nucleotide variant	NM_001202.6(BMP4):c.521G>A (p.Gly174Asp)	Inborn genetic diseases [RCV005311068]\|Microphthalmia with brain and digit anomalies [RCV003791817]	uncertain significance	14	53950738	53950738	Human	2	name
402523670	CV3102561	single nucleotide variant	NM_001202.6(BMP4):c.394A>T (p.Thr132Ser)	Microphthalmia with brain and digit anomalies [RCV003790655]	uncertain significance	14	53950865	53950865	Human	1	name
405079142	CV3114585	single nucleotide variant	NM_001202.6(BMP4):c.560C>T (p.Pro187Leu)	Microphthalmia with brain and digit anomalies [RCV003810147]	uncertain significance	14	53950699	53950699	Human	1	name
405267417	CV3186827	single nucleotide variant	NM_001202.6(BMP4):c.856C>T (p.Arg286Ter)	Microphthalmia with brain and digit anomalies [RCV005006325]\|not provided [RCV003886908]	likely pathogenic\|conflicting interpretations of pathogenicity	14	53950403	53950403	Human	1	name
405289011	CV3193946	single nucleotide variant	NM_001202.6(BMP4):c.729G>C (p.Gln243His)	BMP4-related disorder [RCV003983449]	uncertain significance	14	53950530	53950530	Human		name , trait , alternate_id
8600701	CV32743	single nucleotide variant	NM_001202.6(BMP4):c.860G>A (p.Arg287His)	BMP4-related disorder [RCV003934842]\|Microphthalmia with brain and digit anomalies [RCV000644620]\|Microphthalmia with brain and digit anomalies [RCV000989225]\|Orofacial cleft 11 [RCV000019278]	pathogenic\|benign\|likely benign	14	53950399	53950399	Human	2	name , trait , alternate_id
405749583	CV3291224	single nucleotide variant	NM_001202.6(BMP4):c.329C>T (p.Pro110Leu)	Inborn genetic diseases [RCV004431894]\|Microphthalmia with brain and digit anomalies [RCV005003757]	uncertain significance	14	53951894	53951894	Human	2	name
405749592	CV3291225	single nucleotide variant	NM_001202.6(BMP4):c.338G>A (p.Arg113Gln)	Inborn genetic diseases [RCV004431895]\|Microphthalmia with brain and digit anomalies [RCV005006390]	uncertain significance	14	53951885	53951885	Human	2	name
405749596	CV3291226	single nucleotide variant	NM_001202.6(BMP4):c.403A>G (p.Asn135Asp)	Inborn genetic diseases [RCV004431896]	uncertain significance	14	53950856	53950856	Human	1	name
405855070	CV3395657	single nucleotide variant	NM_001202.6(BMP4):c.337C>G (p.Arg113Gly)	See cases [RCV004555930]	pathogenic	14	53951886	53951886	Human		name
405855071	CV3395658	single nucleotide variant	NM_001202.6(BMP4):c.452A>T (p.Glu151Val)	See cases [RCV004555931]	pathogenic	14	53950807	53950807	Human		name
405855072	CV3395659	single nucleotide variant	NM_001202.6(BMP4):c.590C>T (p.Thr197Ile)	See cases [RCV004555932]	pathogenic	14	53950669	53950669	Human		name
407429104	CV3413491	single nucleotide variant	NM_001202.6(BMP4):c.845A>T (p.His282Leu)	Microphthalmia with brain and digit anomalies [RCV004594899]	uncertain significance	14	53950414	53950414	Human	1	name
407496226	CV3496518	single nucleotide variant	NM_001202.6(BMP4):c.368A>G (p.Glu123Gly)	not provided [RCV004696719]	uncertain significance	14	53951855	53951855	Human		name
408383948	CV3506165	single nucleotide variant	NM_001202.6(BMP4):c.520G>A (p.Gly174Ser)	BMP4-related disorder [RCV004731427]	uncertain significance	14	53950739	53950739	Human		name , trait , alternate_id
597636736	CV3646745	single nucleotide variant	NM_001202.6(BMP4):c.547G>A (p.Val183Ile)	Inborn genetic diseases [RCV004969974]	uncertain significance	14	53950712	53950712	Human	1	name
597636740	CV3646746	single nucleotide variant	NM_001202.6(BMP4):c.830A>T (p.His277Leu)	Inborn genetic diseases [RCV004969975]	uncertain significance	14	53950429	53950429	Human	1	name
597689190	CV3710815	single nucleotide variant	NM_001202.6(BMP4):c.913A>T (p.Asn305Tyr)	Microphthalmia with brain and digit anomalies [RCV005007205]	uncertain significance	14	53950346	53950346	Human	1	name
597676247	CV3710816	single nucleotide variant	NM_001202.6(BMP4):c.901G>A (p.Ala301Thr)	Microphthalmia with brain and digit anomalies [RCV005005642]	uncertain significance	14	53950358	53950358	Human	1	name
597689199	CV3710817	single nucleotide variant	NM_001202.6(BMP4):c.892T>G (p.Ser298Ala)	Microphthalmia with brain and digit anomalies [RCV005007206]	uncertain significance	14	53950367	53950367	Human	1	name
597676254	CV3710818	single nucleotide variant	NM_001202.6(BMP4):c.877A>G (p.Ser293Gly)	Microphthalmia with brain and digit anomalies [RCV005005643]	uncertain significance	14	53950382	53950382	Human	1	name
597676263	CV3710819	single nucleotide variant	NM_001202.6(BMP4):c.854C>T (p.Thr285Ile)	Microphthalmia with brain and digit anomalies [RCV005005644]	uncertain significance	14	53950405	53950405	Human	1	name
597676274	CV3710820	single nucleotide variant	NM_001202.6(BMP4):c.830A>G (p.His277Arg)	Microphthalmia with brain and digit anomalies [RCV005005645]	uncertain significance	14	53950429	53950429	Human	1	name
597676286	CV3710822	single nucleotide variant	NM_001202.6(BMP4):c.791A>G (p.Asn264Ser)	Microphthalmia with brain and digit anomalies [RCV005005646]	uncertain significance	14	53950468	53950468	Human	1	name
597689211	CV3710823	single nucleotide variant	NM_001202.6(BMP4):c.785G>A (p.Ser262Asn)	Microphthalmia with brain and digit anomalies [RCV005007207]	uncertain significance	14	53950474	53950474	Human	1	name
597689223	CV3710824	single nucleotide variant	NM_001202.6(BMP4):c.740A>C (p.His247Pro)	Microphthalmia with brain and digit anomalies [RCV005007208]	uncertain significance	14	53950519	53950519	Human	1	name
597676299	CV3710825	single nucleotide variant	NM_001202.6(BMP4):c.709G>A (p.Glu237Lys)	Microphthalmia with brain and digit anomalies [RCV005005647]	uncertain significance	14	53950550	53950550	Human	1	name
597676312	CV3710826	single nucleotide variant	NM_001202.6(BMP4):c.700C>A (p.Leu234Ile)	Microphthalmia with brain and digit anomalies [RCV005005648]	uncertain significance	14	53950559	53950559	Human	1	name
597676323	CV3710827	single nucleotide variant	NM_001202.6(BMP4):c.691A>G (p.Asn231Asp)	Microphthalmia with brain and digit anomalies [RCV005005649]	uncertain significance	14	53950568	53950568	Human	1	name
597678449	CV3710828	single nucleotide variant	NM_001202.6(BMP4):c.677G>T (p.Arg226Leu)	Microphthalmia with brain and digit anomalies [RCV005005650]	uncertain significance	14	53950582	53950582	Human	1	name
597689232	CV3710829	single nucleotide variant	NM_001202.6(BMP4):c.673A>T (p.Thr225Ser)	Microphthalmia with brain and digit anomalies [RCV005007209]	uncertain significance	14	53950586	53950586	Human	1	name
597689242	CV3710831	single nucleotide variant	NM_001202.6(BMP4):c.659C>T (p.Ala220Val)	Microphthalmia with brain and digit anomalies [RCV005007210]	uncertain significance	14	53950600	53950600	Human	1	name
597676354	CV3710833	single nucleotide variant	NM_001202.6(BMP4):c.652A>C (p.Ser218Arg)	Microphthalmia with brain and digit anomalies [RCV005005652]	uncertain significance	14	53950607	53950607	Human	1	name
597689252	CV3710834	single nucleotide variant	NM_001202.6(BMP4):c.532A>G (p.Ile178Val)	Microphthalmia with brain and digit anomalies [RCV005007211]	uncertain significance	14	53950727	53950727	Human	1	name
597676382	CV3710837	single nucleotide variant	NM_001202.6(BMP4):c.349G>T (p.Val117Leu)	Microphthalmia with brain and digit anomalies [RCV005005654]	uncertain significance	14	53951874	53951874	Human	1	name
12840836	CV376107	single nucleotide variant	NM_001202.6(BMP4):c.898C>T (p.Arg300Trp)	Microphthalmia with brain and digit anomalies [RCV001865369]\|not provided [RCV000431465]	conflicting interpretations of pathogenicity\|uncertain significance	14	53950361	53950361	Human	1	name
8601965	CV38570	single nucleotide variant	NM_001202.6(BMP4):c.592C>T (p.Arg198Ter)	Inborn genetic diseases [RCV001267506]\|Microphthalmia with brain and digit anomalies [RCV000022456]\|Orofacial cleft 11 [RCV000022455]	pathogenic	14	53950667	53950667	Human	3	name
8601966	CV38572	single nucleotide variant	NM_001202.6(BMP4):c.362A>G (p.His121Arg)	BMP4-related disorder [RCV003974850]\|Microphthalmia with brain and digit anomalies [RCV000022458]\|Microphthalmia with brain and digit anomalies [RCV000952724]\|Orofacial cleft 11 [RCV001114025]\|not provided [RCV003389749]	pathogenic\|likely benign\|uncertain significance	14	53951861	53951861	Human	2	name , trait , alternate_id
597920028	CV3865412	single nucleotide variant	NM_001202.6(BMP4):c.407C>G (p.Ser136Cys)	Microphthalmia with brain and digit anomalies [RCV005223356]	uncertain significance	14	53950852	53950852	Human	1	name
597883948	CV3866075	single nucleotide variant	NM_001202.6(BMP4):c.548T>C (p.Val183Ala)	Microphthalmia with brain and digit anomalies [RCV005217740]	uncertain significance	14	53950711	53950711	Human	1	name
597840065	CV3867822	single nucleotide variant	NM_001202.6(BMP4):c.373C>G (p.His125Asp)	Microphthalmia with brain and digit anomalies [RCV005211018]	uncertain significance	14	53950886	53950886	Human	1	name
597841755	CV3878135	single nucleotide variant	NM_001202.6(BMP4):c.739C>G (p.His247Asp)	Microphthalmia with brain and digit anomalies [RCV005226622]	uncertain significance	14	53950520	53950520	Human	1	name
597834485	CV3878677	single nucleotide variant	NM_001202.6(BMP4):c.770C>T (p.Ser257Leu)	Microphthalmia with brain and digit anomalies [RCV005225047]	uncertain significance	14	53950489	53950489	Human	1	name
598243397	CV3894888	single nucleotide variant	NM_001202.6(BMP4):c.529C>T (p.Arg177Cys)	Microphthalmia with brain and digit anomalies [RCV005365532]	uncertain significance	14	53950730	53950730	Human	1	name
598162050	CV3945880	single nucleotide variant	NM_001202.6(BMP4):c.817G>A (p.Val273Ile)	Inborn genetic diseases [RCV005307132]	uncertain significance	14	53950442	53950442	Human	1	name
616938274	CV4013048	single nucleotide variant	NM_001202.6(BMP4):c.645T>G (p.Phe215Leu)	not provided [RCV005410515]	uncertain significance	14	53950614	53950614	Human		name
12901702	CV409133	single nucleotide variant	NM_001202.6(BMP4):c.512G>A (p.Trp171Ter)	Microphthalmia with brain and digit anomalies [RCV005004188]\|not provided [RCV000485349]	likely pathogenic\|uncertain significance	14	53950747	53950747	Human	1	name
13515480	CV488913	single nucleotide variant	NM_001202.6(BMP4):c.676C>T (p.Arg226Trp)	BMP4-related disorder [RCV003420028]\|Microphthalmia with brain and digit anomalies [RCV001112673]\|Microphthalmia with brain and digit anomalies [RCV001854009]\|Orofacial cleft 11 [RCV001112672]\|See cases [RCV004555870]\|not provided [RCV000594335]	pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	53950583	53950583	Human	2	name , trait , alternate_id
13616369	CV528205	single nucleotide variant	NM_001202.6(BMP4):c.361C>T (p.His121Tyr)	Microphthalmia with brain and digit anomalies [RCV000644619]	uncertain significance	14	53951862	53951862	Human	1	name
13794464	CV553354	single nucleotide variant	NM_001202.6(BMP4):c.614T>C (p.Val205Ala)	Tooth agenesis [RCV000681619]	uncertain significance	14	53950645	53950645	Human	2	name
14696586	CV622112	single nucleotide variant	NM_001202.6(BMP4):c.450C>G (p.Asn150Lys)	Microphthalmia with brain and digit anomalies [RCV005213399]\|not provided [RCV000782227]	uncertain significance	14	53950809	53950809	Human	1	name
14702451	CV626230	single nucleotide variant	NM_001202.6(BMP4):c.839G>C (p.Arg280Pro)	BMP4-Related Syndromic Microphthalmia [RCV000790928]	uncertain significance	14	53950420	53950420	Human	1	name , trait
15158815	CV739236	single nucleotide variant	NM_001202.6(BMP4):c.806G>A (p.Arg269Gln)	Microphthalmia with brain and digit anomalies [RCV002068648]	likely benign	14	53950453	53950453	Human	1	name
15144971	CV739238	single nucleotide variant	NM_001202.6(BMP4):c.502G>C (p.Gly168Arg)	Microphthalmia with brain and digit anomalies [RCV000900086]\|not specified [RCV001818742]	likely benign\|uncertain significance	14	53950757	53950757	Human	1	name
15154679	CV739239	single nucleotide variant	NM_001202.6(BMP4):c.394A>G (p.Thr132Ala)	Microphthalmia with brain and digit anomalies [RCV000902001]	likely benign	14	53950865	53950865	Human	1	name
21074483	CV797037	single nucleotide variant	NM_001202.6(BMP4):c.635G>A (p.Trp212Ter)	not provided [RCV000995176]	likely pathogenic	14	53950624	53950624	Human		name
28868714	CV871935	single nucleotide variant	NM_001202.6(BMP4):c.673A>G (p.Thr225Ala)	Microphthalmia with brain and digit anomalies [RCV001112674]\|Microphthalmia with brain and digit anomalies [RCV001856491]\|not provided [RCV003883555]	benign\|likely benign\|uncertain significance	14	53950586	53950586	Human	1	name
28871351	CV871936	single nucleotide variant	NM_001202.6(BMP4):c.305C>T (p.Thr102Ile)	BMP4-related disorder [RCV004751886]\|Inborn genetic diseases [RCV004963123]\|Microphthalmia with brain and digit anomalies [RCV001114029]\|Microphthalmia with brain and digit anomalies [RCV002556227]\|Orofacial cleft 11 [RCV001114028]	likely benign\|uncertain significance	14	53951918	53951918	Human	3	name , trait , alternate_id
38467247	CV957237	single nucleotide variant	NM_001202.6(BMP4):c.426T>A (p.Phe142Leu)	Microphthalmia with brain and digit anomalies [RCV001247811]	uncertain significance	14	53950833	53950833	Human	1	name
126726692	CV995872	single nucleotide variant	NM_001202.6(BMP4):c.935C>T (p.Ser312Leu)	Microphthalmia with brain and digit anomalies [RCV001302973]	uncertain significance	14	53950324	53950324	Human	1	name
151235484	CV1318808	single nucleotide variant	NM_001202.6(BMP4):c.1001C>A (p.Ala334Asp)	not provided [RCV001795626]	uncertain significance	14	53950258	53950258	Human		name
151754898	CV1391461	single nucleotide variant	NM_001202.6(BMP4):c.1223G>A (p.Arg408His)	Inborn genetic diseases [RCV002573381]\|Microphthalmia with brain and digit anomalies [RCV001969571]	uncertain significance	14	53950036	53950036	Human	2	name
151837072	CV1501093	single nucleotide variant	NM_001202.6(BMP4):c.1085A>G (p.Asn362Ser)	Microphthalmia with brain and digit anomalies [RCV001977257]	uncertain significance	14	53950174	53950174	Human	1	name
155644686	CV1708749	single nucleotide variant	NM_001202.6(BMP4):c.1118G>A (p.Cys373Tyr)	Irido-corneo-trabecular dysgenesis [RCV002291345]	likely pathogenic	14	53950141	53950141	Human	1	name
156221679	CV1879319	single nucleotide variant	NM_001202.6(BMP4):c.1076C>T (p.Thr359Ile)	Microphthalmia with brain and digit anomalies [RCV003058964]	uncertain significance	14	53950183	53950183	Human	1	name
156096836	CV1906274	single nucleotide variant	NM_001202.6(BMP4):c.1042C>T (p.His348Tyr)	Microphthalmia with brain and digit anomalies [RCV003080443]	uncertain significance	14	53950217	53950217	Human	1	name
156251574	CV2196545	single nucleotide variant	NM_001202.6(BMP4):c.1099A>C (p.Ser367Arg)	BMP4-related disorder [RCV003918945]\|Inborn genetic diseases [RCV002668413]\|Microphthalmia with brain and digit anomalies [RCV005002980]	likely benign\|uncertain significance	14	53950160	53950160	Human	3	name , trait , alternate_id
156190531	CV2289274	single nucleotide variant	NM_001202.6(BMP4):c.1171A>G (p.Lys391Glu)	Inborn genetic diseases [RCV002874214]	uncertain significance	14	53950088	53950088	Human	1	name
401726662	CV2695754	single nucleotide variant	NM_001202.6(BMP4):c.1088C>T (p.Ser363Phe)	Inborn genetic diseases [RCV003246437]	uncertain significance	14	53950171	53950171	Human	1	name
8600699	CV32741	single nucleotide variant	NM_001202.6(BMP4):c.1037C>T (p.Ala346Val)	Microphthalmia with brain and digit anomalies [RCV005007876]\|Orofacial cleft 11 [RCV000019276]	pathogenic\|uncertain significance	14	53950222	53950222	Human	2	name
408384376	CV3505202	single nucleotide variant	NM_001202.6(BMP4):c.1150C>G (p.Leu384Val)	BMP4-related disorder [RCV004731759]	uncertain significance	14	53950109	53950109	Human		name , trait , alternate_id
596930988	CV3529830	single nucleotide variant	NM_001202.6(BMP4):c.1010G>A (p.Cys337Tyr)	not provided [RCV004780880]	uncertain significance	14	53950249	53950249	Human		name
597689180	CV3710812	single nucleotide variant	NM_001202.6(BMP4):c.1126A>G (p.Thr376Ala)	Microphthalmia with brain and digit anomalies [RCV005007204]	uncertain significance	14	53950133	53950133	Human	1	name
597923155	CV3867373	single nucleotide variant	NM_001202.6(BMP4):c.1000G>A (p.Ala334Thr)	Microphthalmia with brain and digit anomalies [RCV005223799]	uncertain significance	14	53950259	53950259	Human	1	name
597870901	CV3869981	single nucleotide variant	NM_001202.6(BMP4):c.1189T>A (p.Tyr397Asn)	Microphthalmia with brain and digit anomalies [RCV005215711]	uncertain significance	14	53950070	53950070	Human	1	name
151837373	CV1468059	deletion	NM_001202.6(BMP4):c.205_214del (p.Arg69fs)	Microphthalmia with brain and digit anomalies [RCV001956323]	pathogenic	14	53952009	53952018	Human	1	name
8566352	CV32739	microsatellite	NM_001202.6(BMP4):c.226_227del (p.Ser76fs)	Microphthalmia with brain and digit anomalies [RCV000019274]	pathogenic	14	53951996	53951997	Human		name
616939200	CV4015530	duplication	NM_001202.6(BMP4):c.245_248dup (p.Met83fs)	not provided [RCV005413042]	likely pathogenic	14	53951974	53951975	Human		name
405745778	CV3226307	deletion	NM_001202.6(BMP4):c.539_561del (p.Ile180fs)	Microphthalmia with brain and digit anomalies [RCV003991298]	uncertain significance	14	53950698	53950720	Human	1	name
12900090	CV409134	deletion	NM_001202.6(BMP4):c.380_392del (p.Glu127fs)	not provided [RCV000481644]	uncertain significance	14	53950867	53950879	Human		name
38492873	CV957236	indel	NM_001202.6(BMP4):c.865_879delinsGT (p.Arg289fs)	Microphthalmia with brain and digit anomalies [RCV001240340]	uncertain significance	14	53950380	53950394	Human		name

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