ClinVar for MedGen (Select 355268) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24313571.	NM_001202.6(BMP4):c.734G>A (p.Arg245Gln) GRCh37: Chr14:54417243 GRCh38: Chr14:53950525	BMP4	R182Q, R245Q, R292Q	Microphthalmia with brain and digit anomalies	Uncertain significance (Dec 16, 2022)	criteria provided, single submitter
Select item 22001492.	NM_001202.6(BMP4):c.813C>T (p.Leu271=) GRCh37: Chr14:54417164 GRCh38: Chr14:53950446	BMP4		Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 21816263.	NM_001202.6(BMP4):c.605C>T (p.Thr202Met) GRCh37: Chr14:54417372 GRCh38: Chr14:53950654	BMP4	T202M, T139M, T249M	Orofacial cleft 11, Microphthalmia with brain and digit anomalies	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 21692774.	NM_001202.6(BMP4):c.1209G>A (p.Glu403=) GRCh37: Chr14:54416768 GRCh38: Chr14:53950050	BMP4		Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Likely benign (Jul 9, 2022)	criteria provided, single submitter
Select item 21673255.	NM_001202.6(BMP4):c.632G>A (p.Arg211Gln) GRCh37: Chr14:54417345 GRCh38: Chr14:53950627	BMP4	R148Q, R211Q, R258Q	Orofacial cleft 11, Microphthalmia with brain and digit anomalies, Inborn genetic diseases	Uncertain significance (May 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21671536.	NM_001202.6(BMP4):c.1042C>T (p.His348Tyr) GRCh37: Chr14:54416935 GRCh38: Chr14:53950217	BMP4	H395Y, H285Y, H348Y	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 21630817.	NM_001202.6(BMP4):c.213G>T (p.Pro71=) GRCh37: Chr14:54418728 GRCh38: Chr14:53952010	BMP4		Orofacial cleft 11, Microphthalmia with brain and digit anomalies	Benign (Feb 6, 2022)	criteria provided, single submitter
Select item 21630808.	NM_001202.6(BMP4):c.731C>T (p.Thr244Ile) GRCh37: Chr14:54417246 GRCh38: Chr14:53950528	BMP4	T244I, T181I, T291I	Orofacial cleft 11, Microphthalmia with brain and digit anomalies	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 21594159.	NM_001202.6(BMP4):c.168C>A (p.Asp56Glu) GRCh37: Chr14:54418773 GRCh38: Chr14:53952055	BMP4	D103E, D56E	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 215840110.	NM_001202.6(BMP4):c.89C>T (p.Thr30Met) GRCh37: Chr14:54418852 GRCh38: Chr14:53952134	BMP4	T30M, T77M	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Uncertain significance (Sep 14, 2022)	criteria provided, single submitter
Select item 215716811.	NM_001202.6(BMP4):c.839G>A (p.Arg280Gln) GRCh37: Chr14:54417138 GRCh38: Chr14:53950420	BMP4	R217Q, R280Q, R327Q	Orofacial cleft 11, Microphthalmia with brain and digit anomalies	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 214388212.	NM_001202.6(BMP4):c.862C>T (p.Arg288Trp) GRCh37: Chr14:54417115 GRCh38: Chr14:53950397	BMP4	R288W, R335W, R225W	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 214224113.	NM_001202.6(BMP4):c.1076C>T (p.Thr359Ile) GRCh37: Chr14:54416901 GRCh38: Chr14:53950183	BMP4	T406I, T296I, T359I	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 213758714.	NM_001202.6(BMP4):c.250C>T (p.Arg84Trp) GRCh37: Chr14:54418691 GRCh38: Chr14:53951973	BMP4	R131W, R84W, R21W	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 212191615.	NM_001202.6(BMP4):c.63G>A (p.Ala21=) GRCh37: Chr14:54418878 GRCh38: Chr14:53952160	BMP4		Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 211934416.	NM_001202.6(BMP4):c.430C>G (p.Leu144Val) GRCh37: Chr14:54417547 GRCh38: Chr14:53950829	BMP4	L144V, L191V, L81V	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 211388917.	NM_001202.6(BMP4):c.859C>T (p.Arg287Cys) GRCh37: Chr14:54417118 GRCh38: Chr14:53950400	BMP4	R287C, R224C, R334C	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 210828918.	NM_001202.6(BMP4):c.63G>C (p.Ala21=) GRCh37: Chr14:54418878 GRCh38: Chr14:53952160	BMP4		Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 208885519.	NM_001202.6(BMP4):c.810C>A (p.Pro270=) GRCh37: Chr14:54417167 GRCh38: Chr14:53950449	BMP4		Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 208366720.	NM_001202.6(BMP4):c.416G>T (p.Arg139Leu) GRCh37: Chr14:54417561 GRCh38: Chr14:53950843	BMP4	R76L, R139L, R186L	Orofacial cleft 11, Microphthalmia with brain and digit anomalies	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 207929421.	NM_001202.6(BMP4):c.416G>A (p.Arg139His) GRCh37: Chr14:54417561 GRCh38: Chr14:53950843	BMP4	R186H, R139H, R76H	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 206857722.	NM_001202.6(BMP4):c.476G>A (p.Arg159Gln) GRCh37: Chr14:54417501 GRCh38: Chr14:53950783	BMP4	R96Q, R206Q, R159Q	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 206321723.	NM_001202.6(BMP4):c.838C>T (p.Arg280Trp) GRCh37: Chr14:54417139 GRCh38: Chr14:53950421	BMP4	R217W, R280W, R327W	Orofacial cleft 11, Microphthalmia with brain and digit anomalies	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 203408324.	NM_001202.6(BMP4):c.671G>A (p.Trp224Ter) GRCh37: Chr14:54417306 GRCh38: Chr14:53950588	BMP4	W271, W224, W161*	Orofacial cleft 11, Microphthalmia with brain and digit anomalies	Uncertain significance (Oct 12, 2022)	criteria provided, single submitter
Select item 199840325.	NM_001202.6(BMP4):c.451G>A (p.Glu151Lys) GRCh37: Chr14:54417526 GRCh38: Chr14:53950808	BMP4	E198K, E151K, E88K	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Uncertain significance (May 26, 2022)	criteria provided, single submitter
Select item 199254626.	NM_001202.6(BMP4):c.979G>T (p.Val327Leu) GRCh37: Chr14:54416998 GRCh38: Chr14:53950280	BMP4	V264L, V374L, V327L	Orofacial cleft 11, Microphthalmia with brain and digit anomalies	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 199166627.	NM_001202.6(BMP4):c.442C>T (p.Pro148Ser) GRCh37: Chr14:54417535 GRCh38: Chr14:53950817	BMP4	P148S, P85S, P195S	Orofacial cleft 11, Microphthalmia with brain and digit anomalies	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 198906428.	NM_001202.6(BMP4):c.348C>G (p.Thr116=) GRCh37: Chr14:54418593 GRCh38: Chr14:53951875	BMP4		Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 197543529.	NM_001202.6(BMP4):c.370+19T>C GRCh37: Chr14:54418552 GRCh38: Chr14:53951834	BMP4		Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 197457530.	NM_001202.6(BMP4):c.280G>A (p.Glu94Lys) GRCh37: Chr14:54418661 GRCh38: Chr14:53951943	BMP4	E141K, E94K, E31K	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Uncertain significance (Jul 24, 2022)	criteria provided, single submitter
Select item 197422031.	NM_001202.6(BMP4):c.123C>T (p.His41=) GRCh37: Chr14:54418818 GRCh38: Chr14:53952100	BMP4		Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 196593432.	NM_001202.6(BMP4):c.484C>T (p.Arg162Trp) GRCh37: Chr14:54417493 GRCh38: Chr14:53950775	BMP4	R162W, R209W, R99W	Orofacial cleft 11, Microphthalmia with brain and digit anomalies	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 196414833.	NM_001202.6(BMP4):c.383A>G (p.Asn128Ser) GRCh37: Chr14:54417594 GRCh38: Chr14:53950876	BMP4	N128S, N175S, N65S	Orofacial cleft 11, Microphthalmia with brain and digit anomalies	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 191603734.	NM_001202.6(BMP4):c.667C>T (p.Arg223Cys) GRCh37: Chr14:54417310 GRCh38: Chr14:53950592	BMP4	R223C, R270C, R160C	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 169178635.	NM_001202.6(BMP4):c.863G>A (p.Arg288Gln) GRCh37: Chr14:54417114 GRCh38: Chr14:53950396	BMP4	R225Q, R288Q, R335Q	Microphthalmia with brain and digit anomalies, Orofacial cleft 11, not provided	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167284836.	NM_001202.6(BMP4):c.1179A>G (p.Val393=) GRCh37: Chr14:54416798 GRCh38: Chr14:53950080	BMP4		Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 164391637.	NM_001202.6(BMP4):c.240G>T (p.Pro80=) GRCh37: Chr14:54418701 GRCh38: Chr14:53951983	BMP4		Orofacial cleft 11, Microphthalmia with brain and digit anomalies	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 159538938.	NM_001202.6(BMP4):c.485G>A (p.Arg162Gln) GRCh37: Chr14:54417492 GRCh38: Chr14:53950774	BMP4	R162Q, R209Q, R99Q	Microphthalmia with brain and digit anomalies, Orofacial cleft 11, not specified	Conflicting interpretations of pathogenicity (Jun 23, 2022)	criteria provided, conflicting interpretations
Select item 156691639.	NM_001202.6(BMP4):c.1032A>G (p.Pro344=) GRCh37: Chr14:54416945 GRCh38: Chr14:53950227	BMP4		Orofacial cleft 11, Microphthalmia with brain and digit anomalies	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 155902540.	NM_001202.6(BMP4):c.510T>C (p.Asp170=) GRCh37: Chr14:54417467 GRCh38: Chr14:53950749	BMP4		Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 155022541.	NM_001202.6(BMP4):c.357C>T (p.Ser119=) GRCh37: Chr14:54418584 GRCh38: Chr14:53951866	BMP4		Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 153614642.	NM_001202.6(BMP4):c.159C>T (p.Leu53=) GRCh37: Chr14:54418782 GRCh38: Chr14:53952064	BMP4		Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Likely benign (Jun 5, 2022)	criteria provided, single submitter
Select item 150740743.	NM_001202.6(BMP4):c.481T>C (p.Phe161Leu) GRCh37: Chr14:54417496 GRCh38: Chr14:53950778	BMP4	F98L, F161L, F208L	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 148497544.	NM_001202.6(BMP4):c.295A>G (p.Ile99Val) GRCh37: Chr14:54418646 GRCh38: Chr14:53951928	BMP4	I146V, I99V, I36V	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 147440245.	NM_001202.6(BMP4):c.436A>G (p.Ser146Gly) GRCh37: Chr14:54417541 GRCh38: Chr14:53950823	BMP4	S146G, S83G, S193G	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 147358346.	NM_001202.6(BMP4):c.1223G>A (p.Arg408His) GRCh37: Chr14:54416754 GRCh38: Chr14:53950036	BMP4	R345H, R408H, R455H	Microphthalmia with brain and digit anomalies, Orofacial cleft 11, Inborn genetic diseases	Uncertain significance (Jul 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147284847.	NM_001202.6(BMP4):c.1085A>G (p.Asn362Ser) GRCh37: Chr14:54416892 GRCh38: Chr14:53950174	BMP4	N362S, N409S, N299S	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 145834448.	NM_001202.6(BMP4):c.205_214del (p.Arg69fs) GRCh37: Chr14:54418727-54418736 GRCh38: Chr14:53952009-53952018	BMP4	R69fs, R116fs, R6fs	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Pathogenic (Aug 15, 2021)	criteria provided, single submitter
Select item 145539649.	NC_000014.8:g.(?_54416750)_(55369403_?)del GRCh37: Chr14:54416750-55369403	BMP4, CDKN3, CGRRF1, CNIH1, GCH1, GMFB, SAMD4A		Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Pathogenic (Feb 15, 2021)	criteria provided, single submitter
Select item 143407650.	NM_001202.6(BMP4):c.220A>G (p.Ser74Gly) GRCh37: Chr14:54418721 GRCh38: Chr14:53952003	BMP4	S11G, S121G, S74G	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 142987051.	NM_001202.6(BMP4):c.153T>G (p.His51Gln) GRCh37: Chr14:54418788 GRCh38: Chr14:53952070	BMP4	H51Q, H98Q	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 142406252.	NM_001202.6(BMP4):c.568G>A (p.Val190Met) GRCh37: Chr14:54417409 GRCh38: Chr14:53950691	BMP4	V190M, V127M, V237M	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Uncertain significance (Aug 16, 2021)	criteria provided, single submitter
Select item 138198153.	NM_001202.6(BMP4):c.118G>A (p.Gly40Ser) GRCh37: Chr14:54418823 GRCh38: Chr14:53952105	BMP4	G87S, G40S	Orofacial cleft 11, Microphthalmia with brain and digit anomalies	Uncertain significance (Oct 21, 2021)	criteria provided, single submitter
Select item 137108454.	NM_001202.6(BMP4):c.668G>A (p.Arg223His) GRCh37: Chr14:54417309 GRCh38: Chr14:53950591	BMP4	R270H, R160H, R223H	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Uncertain significance (May 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136815155.	NM_001202.6(BMP4):c.475C>T (p.Arg159Trp) GRCh37: Chr14:54417502 GRCh38: Chr14:53950784	BMP4	R96W, R159W, R206W	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Uncertain significance (Aug 7, 2021)	criteria provided, single submitter
Select item 135261156.	NM_001202.6(BMP4):c.200T>A (p.Leu67Gln) GRCh37: Chr14:54418741 GRCh38: Chr14:53952023	BMP4	L114Q, L4Q, L67Q	Orofacial cleft 11, Microphthalmia with brain and digit anomalies	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 134986357.	NM_001202.6(BMP4):c.979G>A (p.Val327Met) GRCh37: Chr14:54416998 GRCh38: Chr14:53950280	BMP4	V264M, V374M, V327M	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 134606658.	NM_001202.6(BMP4):c.17G>A (p.Arg6Gln) GRCh37: Chr14:54418924 GRCh38: Chr14:53952206	BMP4	R6Q	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 131110059.	NM_001202.6(BMP4):c.351G>A (p.Val117=) GRCh37: Chr14:54418590 GRCh38: Chr14:53951872	BMP4		not provided, Orofacial cleft 11, Microphthalmia with brain and digit anomalies	Conflicting interpretations of pathogenicity (Sep 24, 2022)	criteria provided, conflicting interpretations
Select item 128465060.	NM_001202.6(BMP4):c.348C>T (p.Thr116=) GRCh37: Chr14:54418593 GRCh38: Chr14:53951875	BMP4		Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Likely benign (Dec 4, 2020)	criteria provided, single submitter
Select item 119504061.	NM_001202.6(BMP4):c.677G>A (p.Arg226Gln) GRCh37: Chr14:54417300 GRCh38: Chr14:53950582	BMP4	R163Q, R226Q, R273Q	Microphthalmia with brain and digit anomalies, Orofacial cleft 11, not provided	Conflicting interpretations of pathogenicity (Jun 9, 2022)	criteria provided, conflicting interpretations
Select item 119250062.	NM_001202.6(BMP4):c.-132-117A>G GRCh37: Chr14:54420235 GRCh38: Chr14:53953517	LOC109433677, BMP4		Microphthalmia with brain and digit anomalies	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 119249963.	NM_001202.6(BMP4):c.-8+29C>T GRCh37: Chr14:54419965 GRCh38: Chr14:53953247	BMP4		Microphthalmia with brain and digit anomalies	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 119249864.	NM_001202.6(BMP4):c.-7-39A>G GRCh37: Chr14:54418986 GRCh38: Chr14:53952268	BMP4		Microphthalmia with brain and digit anomalies, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 116799365.	NM_001202.6(BMP4):c.-7-163C>G GRCh37: Chr14:54419110 GRCh38: Chr14:53952392	BMP4		Microphthalmia with brain and digit anomalies, Orofacial cleft 11, not provided	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116799266.	NM_001202.6(BMP4):c.-7-159T>G GRCh37: Chr14:54419106 GRCh38: Chr14:53952388	BMP4		Microphthalmia with brain and digit anomalies, Orofacial cleft 11, not provided	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116799167.	NM_001202.6(BMP4):c.370+160C>T GRCh37: Chr14:54418411 GRCh38: Chr14:53951693	BMP4		Microphthalmia with brain and digit anomalies, Orofacial cleft 11, not provided	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107116868.	NC_000014.8:g.(?_54416336)_54418690del	BMP4		Orofacial cleft 11, Microphthalmia with brain and digit anomalies	Pathogenic (Mar 20, 2020)	criteria provided, single submitter
Select item 102263169.	NM_001202.6(BMP4):c.857G>A (p.Arg286Gln) GRCh37: Chr14:54417120 GRCh38: Chr14:53950402	BMP4	R223Q, R286Q, R333Q	Inborn genetic diseases, Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100600170.	NM_001202.6(BMP4):c.935C>T (p.Ser312Leu) GRCh37: Chr14:54417042 GRCh38: Chr14:53950324	BMP4	S249L, S312L, S359L	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Uncertain significance (Aug 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97191071.	NM_001202.6(BMP4):c.426T>A (p.Phe142Leu) GRCh37: Chr14:54417551 GRCh38: Chr14:53950833	BMP4	F79L, F142L, F189L	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 96580972.	NM_001202.6(BMP4):c.865_879delinsGT (p.Arg289fs) GRCh37: Chr14:54417098-54417112 GRCh38: Chr14:53950380-53950394	BMP4	R289fs, R226fs, R336fs	Orofacial cleft 11, Microphthalmia with brain and digit anomalies	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 88353273.	NM_001202.6(BMP4):c.305C>T (p.Thr102Ile) GRCh37: Chr14:54418636 GRCh38: Chr14:53951918	BMP4	T102I, T39I, T149I	Microphthalmia with brain and digit anomalies, Microphthalmia with brain and digit anomalies, Orofacial cleft 11, Orofacial cleft 11	Conflicting interpretations of pathogenicity (Jul 31, 2022)	criteria provided, conflicting interpretations
Select item 88274074.	NM_001202.6(BMP4):c.673A>G (p.Thr225Ala) GRCh37: Chr14:54417304 GRCh38: Chr14:53950586	BMP4	T272A, T162A, T225A	Orofacial cleft 11, Microphthalmia with brain and digit anomalies, Microphthalmia with brain and digit anomalies	Conflicting interpretations of pathogenicity (Oct 9, 2022)	criteria provided, conflicting interpretations
Select item 88273975.	NM_001202.6(BMP4):c.753T>C (p.His251=) GRCh37: Chr14:54417224 GRCh38: Chr14:53950506	BMP4		Orofacial cleft 11, Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Conflicting interpretations of pathogenicity (Sep 5, 2022)	criteria provided, conflicting interpretations
Select item 88163076.	NM_001202.6(BMP4):c.-155G>A GRCh37: Chr14:54423290 GRCh38: Chr14:53956572	BMP4, LOC109433677		Orofacial cleft 11, Microphthalmia with brain and digit anomalies	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 88162977.	NM_001202.6(BMP4):c.124G>C (p.Ala42Pro) GRCh37: Chr14:54418817 GRCh38: Chr14:53952099	BMP4	A42P, A89P	Inborn genetic diseases, Microphthalmia with brain and digit anomalies, Orofacial cleft 11, not provided, Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Conflicting interpretations of pathogenicity (Jan 3, 2023)	criteria provided, conflicting interpretations
Select item 88158878.	NM_001202.6(BMP4):c.*28A>T GRCh37: Chr14:54416722 GRCh38: Chr14:53950004	BMP4		Orofacial cleft 11, Microphthalmia with brain and digit anomalies	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88158779.	NM_001202.6(BMP4):c.*31T>A GRCh37: Chr14:54416719 GRCh38: Chr14:53950001	BMP4		Orofacial cleft 11, Microphthalmia with brain and digit anomalies	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 78327280.	NM_001202.6(BMP4):c.624T>C (p.Asn208=) GRCh37: Chr14:54417353 GRCh38: Chr14:53950635	BMP4		Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 78325681.	NM_001202.6(BMP4):c.450C>T (p.Asn150=) GRCh37: Chr14:54417527 GRCh38: Chr14:53950809	BMP4		Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Benign (Mar 20, 2022)	criteria provided, single submitter
Select item 76732082.	NM_001202.6(BMP4):c.345C>T (p.Asn115=) GRCh37: Chr14:54418596 GRCh38: Chr14:53951878	BMP4		Orofacial cleft 11, Microphthalmia with brain and digit anomalies, Orofacial cleft 11, not provided, Microphthalmia with brain and digit anomalies	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 74858383.	NM_001202.6(BMP4):c.315G>A (p.Glu105=) GRCh37: Chr14:54418626 GRCh38: Chr14:53951908	BMP4		Orofacial cleft 11, Microphthalmia with brain and digit anomalies	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 72834084.	NM_001202.6(BMP4):c.806G>A (p.Arg269Gln) GRCh37: Chr14:54417171 GRCh38: Chr14:53950453	BMP4	R316Q, R206Q, R269Q	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 72763085.	NM_001202.6(BMP4):c.394A>G (p.Thr132Ala) GRCh37: Chr14:54417583 GRCh38: Chr14:53950865	BMP4	T69A, T132A, T179A	Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 72594386.	NM_001202.6(BMP4):c.502G>C (p.Gly168Arg) GRCh37: Chr14:54417475 GRCh38: Chr14:53950757	BMP4	G168R, G215R, G105R	Microphthalmia with brain and digit anomalies, Orofacial cleft 11, not specified	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 72128687.	NM_001202.6(BMP4):c.93G>C (p.Gly31=) GRCh37: Chr14:54418848 GRCh38: Chr14:53952130	BMP4		Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70758188.	NM_001202.6(BMP4):c.228T>A (p.Ser76Arg) GRCh37: Chr14:54418713 GRCh38: Chr14:53951995	BMP4	S123R, S13R, S76R	Orofacial cleft 11, Microphthalmia with brain and digit anomalies, Microphthalmia with brain and digit anomalies	Benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 53625889.	NM_001202.6(BMP4):c.361C>T (p.His121Tyr) GRCh37: Chr14:54418580 GRCh38: Chr14:53951862	BMP4	H121Y, H168Y, H58Y	Orofacial cleft 11, Microphthalmia with brain and digit anomalies	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 49748990.	NM_001202.6(BMP4):c.676C>T (p.Arg226Trp) GRCh37: Chr14:54417301 GRCh38: Chr14:53950583	BMP4	R226W, R273W, R163W	not provided, Orofacial cleft 11, Microphthalmia with brain and digit anomalies, Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 46835791.	NM_001202.6(BMP4):c.76T>C (p.Leu26=) GRCh37: Chr14:54418865 GRCh38: Chr14:53952147	BMP4		Orofacial cleft 11, Microphthalmia with brain and digit anomalies, Orofacial cleft 11, Microphthalmia with brain and digit anomalies	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 44568892.	NM_001202.6(BMP4):c.370+28G>A GRCh37: Chr14:54418543 GRCh38: Chr14:53951825	BMP4		Orofacial cleft 11, Microphthalmia with brain and digit anomalies, not provided, not specified	Benign/Likely benign (Sep 18, 2020)	criteria provided, multiple submitters, no conflicts
Select item 43451793.	NM_001202.6(BMP4):c.252G>A (p.Arg84=) GRCh37: Chr14:54418689 GRCh38: Chr14:53951971	BMP4		not specified, Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Likely benign (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38830694.	NM_001202.6(BMP4):c.898C>T (p.Arg300Trp) GRCh37: Chr14:54417079 GRCh38: Chr14:53950361	BMP4	R300W, R237W, R347W	Orofacial cleft 11, Microphthalmia with brain and digit anomalies, not provided	Conflicting interpretations of pathogenicity (Jul 6, 2022)	criteria provided, conflicting interpretations
Select item 31335595.	NM_001202.6(BMP4):c.-146T>C GRCh37: Chr14:54423281 GRCh38: Chr14:53956563	BMP4, LOC109433677		Cleft Lip +/- Cleft Palate, Autosomal Dominant, Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31335496.	NM_001202.6(BMP4):c.215A>G (p.Gln72Arg) GRCh37: Chr14:54418726 GRCh38: Chr14:53952008	BMP4	Q72R, Q9R, Q119R	not provided, Orofacial cleft, Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 31335397.	NM_001202.6(BMP4):c.224A>G (p.Lys75Arg) GRCh37: Chr14:54418717 GRCh38: Chr14:53951999	BMP4	K75R, K12R, K122R	Cleft Lip +/- Cleft Palate, Autosomal Dominant, Orofacial cleft 11, Microphthalmia with brain and digit anomalies, not provided, Orofacial cleft 11, Syndromic Microphthalmia, Dominant	Uncertain significance (Aug 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31334998.	NM_001202.6(BMP4):c.*88C>T GRCh37: Chr14:54416662 GRCh38: Chr14:53949944	BMP4		Cleft Lip +/- Cleft Palate, Autosomal Dominant, Microphthalmia with brain and digit anomalies, not provided, Orofacial cleft 11	Benign/Likely benign (Sep 2, 2019)	criteria provided, multiple submitters, no conflicts
Select item 31334699.	NM_001202.6(BMP4):c.*148A>T GRCh37: Chr14:54416602 GRCh38: Chr14:53949884	BMP4		Cleft Lip +/- Cleft Palate, Autosomal Dominant, Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 313336100.	NM_001202.6(BMP4):c.*251C>T GRCh37: Chr14:54416499 GRCh38: Chr14:53949781	BMP4		Orofacial cleft, Microphthalmia with brain and digit anomalies, Orofacial cleft 11	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations

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