ClinVar for MedGen (Select 436944) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 137

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2953029	NM_001202.6(BMP4):c.560C>T (p.Pro187Leu)	BMP4 (P124L +2 more)	Single nucleotide variant (missense variant)	Orofacial cleft 11 +1 more	GUncertain significance
Select item 2946480	NM_001202.6(BMP4):c.293A>G (p.Gln98Arg)	BMP4 (Q145R +2 more)	Single nucleotide variant (missense variant)	Orofacial cleft 11 +1 more	GUncertain significance
Select item 2945457	NM_001202.6(BMP4):c.262C>T (p.Arg88Trp)	BMP4 (R25W +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +1 more	GUncertain significance
Select item 2943526	NM_001202.6(BMP4):c.519G>A (p.Arg173=)	BMP4	Single nucleotide variant (synonymous variant)	Orofacial cleft 11 +1 more	GLikely benign
Select item 2939091	NM_001202.6(BMP4):c.521G>A (p.Gly174Asp)	BMP4 (G174D +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +1 more	GUncertain significance
Select item 2935982	NM_001202.6(BMP4):c.171C>G (p.Phe57Leu)	BMP4 (F104L +1 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia with brain and digit anomalies +1 more	GUncertain significance
Select item 2935901	NM_001202.6(BMP4):c.231C>T (p.Ala77=)	BMP4	Single nucleotide variant (synonymous variant)	Microphthalmia with brain and digit anomalies +1 more	GLikely benign
Select item 2935547	NM_001202.6(BMP4):c.180A>G (p.Thr60=)	BMP4	Single nucleotide variant (synonymous variant +1 more)	Orofacial cleft 11 +1 more	GLikely benign
Select item 2935001	NM_001202.6(BMP4):c.394A>T (p.Thr132Ser)	BMP4 (T132S +2 more)	Single nucleotide variant (missense variant)	Orofacial cleft 11 +1 more	GUncertain significance
Select item 2934520	NM_001202.6(BMP4):c.163C>T (p.Arg55Trp)	BMP4 (R55W +1 more)	Single nucleotide variant (missense variant +1 more)	Orofacial cleft 11 +1 more	GUncertain significance
Select item 2931496	NM_001202.6(BMP4):c.764G>A (p.Ser255Asn)	BMP4 (S302N +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +1 more	GUncertain significance
Select item 2928490	NM_001202.6(BMP4):c.762T>C (p.Ile254=)	BMP4	Single nucleotide variant (synonymous variant)	Microphthalmia with brain and digit anomalies +1 more	GLikely benign
Select item 2928199	NM_001202.6(BMP4):c.817G>C (p.Val273Leu)	BMP4 (V273L +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +1 more	GUncertain significance
Select item 2927135	NM_001202.6(BMP4):c.461C>T (p.Ser154Phe)	BMP4 (S154F +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +1 more	GUncertain significance
Select item 2926155	NM_001202.6(BMP4):c.954C>T (p.Ser318=)	BMP4	Single nucleotide variant (synonymous variant)	BMP4-related disorder +2 more	GLikely benign
Select item 2923978	NM_001202.6(BMP4):c.530G>A (p.Arg177His)	BMP4 (R224H +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +1 more	GUncertain significance
Select item 2922391	NM_001202.6(BMP4):c.615C>A (p.Val205=)	BMP4	Single nucleotide variant (synonymous variant)	Microphthalmia with brain and digit anomalies +1 more	GLikely benign
Select item 2273311	NM_001202.6(BMP4):c.251G>A (p.Arg84Gln)	BMP4 (R21Q +2 more)	Single nucleotide variant (missense variant)	Orofacial cleft 11 +2 more	GUncertain significance
Select item 2200149	NM_001202.6(BMP4):c.813C>T (p.Leu271=)	BMP4	Single nucleotide variant (synonymous variant)	Microphthalmia with brain and digit anomalies +2 more	GLikely benign
Select item 2181626	NM_001202.6(BMP4):c.605C>T (p.Thr202Met)	BMP4 (T202M +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +1 more	GUncertain significance
Select item 2169277	NM_001202.6(BMP4):c.1209G>A (p.Glu403=)	BMP4	Single nucleotide variant (synonymous variant)	Orofacial cleft 11 +1 more	GLikely benign
Select item 2167325	NM_001202.6(BMP4):c.632G>A (p.Arg211Gln)	BMP4 (R148Q +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +2 more	GUncertain significance
Select item 2167153	NM_001202.6(BMP4):c.1042C>T (p.His348Tyr)	BMP4 (H395Y +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +1 more	GUncertain significance
Select item 2163081	NM_001202.6(BMP4):c.213G>T (p.Pro71=)	BMP4	Single nucleotide variant (synonymous variant)	Microphthalmia with brain and digit anomalies +1 more	GBenign
Select item 2163080	NM_001202.6(BMP4):c.731C>T (p.Thr244Ile)	BMP4 (T244I +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +1 more	GLikely benign
Select item 2159415	NM_001202.6(BMP4):c.168C>A (p.Asp56Glu)	BMP4 (D103E +1 more)	Single nucleotide variant (missense variant +1 more)	Orofacial cleft 11 +1 more	GUncertain significance
Select item 2158401	NM_001202.6(BMP4):c.89C>T (p.Thr30Met)	BMP4 (T30M +1 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia with brain and digit anomalies +2 more	GUncertain significance
Select item 2157168	NM_001202.6(BMP4):c.839G>A (p.Arg280Gln)	BMP4 (R217Q +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +1 more	GUncertain significance
Select item 2143882	NM_001202.6(BMP4):c.862C>T (p.Arg288Trp)	BMP4 (R288W +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +2 more	GUncertain significance
Select item 2142241	NM_001202.6(BMP4):c.1076C>T (p.Thr359Ile)	BMP4 (T406I +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +1 more	GUncertain significance
Select item 2137587	NM_001202.6(BMP4):c.250C>T (p.Arg84Trp)	BMP4 (R131W +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +1 more	GUncertain significance
Select item 2121916	NM_001202.6(BMP4):c.63G>A (p.Ala21=)	BMP4	Single nucleotide variant (synonymous variant +1 more)	Orofacial cleft 11 +1 more	GLikely benign
Select item 2119344	NM_001202.6(BMP4):c.430C>G (p.Leu144Val)	BMP4 (L144V +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +1 more	GUncertain significance
Select item 2113889	NM_001202.6(BMP4):c.859C>T (p.Arg287Cys)	BMP4 (R287C +2 more)	Single nucleotide variant (missense variant)	Orofacial cleft 11 +1 more	GUncertain significance
Select item 2108289	NM_001202.6(BMP4):c.63G>C (p.Ala21=)	BMP4	Single nucleotide variant (synonymous variant +1 more)	Microphthalmia with brain and digit anomalies +2 more	GLikely benign
Select item 2088855	NM_001202.6(BMP4):c.810C>A (p.Pro270=)	BMP4	Single nucleotide variant (synonymous variant)	Orofacial cleft 11 +1 more	GLikely benign
Select item 2083667	NM_001202.6(BMP4):c.416G>T (p.Arg139Leu)	BMP4 (R76L +2 more)	Single nucleotide variant (missense variant)	Orofacial cleft 11 +1 more	GUncertain significance
Select item 2079294	NM_001202.6(BMP4):c.416G>A (p.Arg139His)	BMP4 (R186H +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +1 more	GUncertain significance
Select item 2068577	NM_001202.6(BMP4):c.476G>A (p.Arg159Gln)	BMP4 (R96Q +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +1 more	GUncertain significance
Select item 2063217	NM_001202.6(BMP4):c.838C>T (p.Arg280Trp)	BMP4 (R217W +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +1 more	GUncertain significance
Select item 2034083	NM_001202.6(BMP4):c.671G>A (p.Trp224Ter)	BMP4 (W271* +2 more)	Single nucleotide variant (nonsense)	Orofacial cleft 11 +1 more	GUncertain significance
Select item 1998403	NM_001202.6(BMP4):c.451G>A (p.Glu151Lys)	BMP4 (E198K +2 more)	Single nucleotide variant (missense variant)	Orofacial cleft 11 +1 more	GUncertain significance
Select item 1992546	NM_001202.6(BMP4):c.979G>T (p.Val327Leu)	BMP4 (V264L +2 more)	Single nucleotide variant (missense variant)	Orofacial cleft 11 +1 more	GUncertain significance
Select item 1991666	NM_001202.6(BMP4):c.442C>T (p.Pro148Ser)	BMP4 (P148S +2 more)	Single nucleotide variant (missense variant)	Orofacial cleft 11 +1 more	GUncertain significance
Select item 1989064	NM_001202.6(BMP4):c.348C>G (p.Thr116=)	BMP4	Single nucleotide variant (synonymous variant)	Microphthalmia with brain and digit anomalies +1 more	GUncertain significance
Select item 1975435	NM_001202.6(BMP4):c.370+19T>C	BMP4	Single nucleotide variant (intron variant)	Orofacial cleft 11 +1 more	GLikely benign
Select item 1974575	NM_001202.6(BMP4):c.280G>A (p.Glu94Lys)	BMP4 (E141K +2 more)	Single nucleotide variant (missense variant)	Orofacial cleft 11 +1 more	GUncertain significance
Select item 1974220	NM_001202.6(BMP4):c.123C>T (p.His41=)	BMP4	Single nucleotide variant (synonymous variant +1 more)	Orofacial cleft 11 +1 more	GLikely benign
Select item 1965934	NM_001202.6(BMP4):c.484C>T (p.Arg162Trp)	BMP4 (R162W +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +1 more	GUncertain significance
Select item 1964148	NM_001202.6(BMP4):c.383A>G (p.Asn128Ser)	BMP4 (N128S +2 more)	Single nucleotide variant (missense variant)	Orofacial cleft 11 +1 more	GUncertain significance
Select item 1916037	NM_001202.6(BMP4):c.667C>T (p.Arg223Cys)	BMP4 (R223C +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +1 more	GUncertain significance
Select item 1805464	NM_001202.6(BMP4):c.169T>C (p.Phe57Leu)	BMP4 (F104L +1 more)	Single nucleotide variant (missense variant +1 more)	Orofacial cleft 11	GUncertain significance
Select item 1705059	NM_001202.6(BMP4):c.733C>T (p.Arg245Trp)	BMP4 (R182W +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1691786	NM_001202.6(BMP4):c.863G>A (p.Arg288Gln)	BMP4 (R225Q +2 more)	Single nucleotide variant	Microphthalmia with brain and digit anomalies +3 more	GConflicting classifications of pathogenicity
Select item 1672848	NM_001202.6(BMP4):c.1179A>G (p.Val393=)	BMP4	Single nucleotide variant (synonymous variant)	Microphthalmia with brain and digit anomalies +1 more	GLikely benign
Select item 1643916	NM_001202.6(BMP4):c.240G>T (p.Pro80=)	BMP4	Single nucleotide variant (synonymous variant)	Microphthalmia with brain and digit anomalies +1 more	GLikely benign
Select item 1595389	NM_001202.6(BMP4):c.485G>A (p.Arg162Gln)	BMP4 (R162Q +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1566916	NM_001202.6(BMP4):c.1032A>G (p.Pro344=)	BMP4	Single nucleotide variant (synonymous variant)	BMP4-related disorder +2 more	GLikely benign
Select item 1559025	NM_001202.6(BMP4):c.510T>C (p.Asp170=)	BMP4	Single nucleotide variant (synonymous variant)	Microphthalmia with brain and digit anomalies +1 more	GLikely benign
Select item 1550225	NM_001202.6(BMP4):c.357C>T (p.Ser119=)	BMP4	Single nucleotide variant (synonymous variant)	Orofacial cleft 11 +1 more	GLikely benign
Select item 1536146	NM_001202.6(BMP4):c.159C>T (p.Leu53=)	BMP4	Single nucleotide variant (synonymous variant +1 more)	Orofacial cleft 11 +1 more	GLikely benign
Select item 1507407	NM_001202.6(BMP4):c.481T>C (p.Phe161Leu)	BMP4 (F98L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1484975	NM_001202.6(BMP4):c.295A>G (p.Ile99Val)	BMP4 (I146V +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +1 more	GUncertain significance
Select item 1474402	NM_001202.6(BMP4):c.436A>G (p.Ser146Gly)	BMP4 (S146G +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +1 more	GUncertain significance
Select item 1473583	NM_001202.6(BMP4):c.1223G>A (p.Arg408His)	BMP4 (R345H +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +2 more	GUncertain significance
Select item 1472848	NM_001202.6(BMP4):c.1085A>G (p.Asn362Ser)	BMP4 (N362S +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +1 more	GUncertain significance
Select item 1458344	NM_001202.6(BMP4):c.205_214del (p.Arg69fs)	BMP4 (R69fs +2 more)	Deletion (frameshift variant)	Orofacial cleft 11 +1 more	GPathogenic
Select item 1455396	NC_000014.8:g.(?_54416750)_(55369403_?)del	BMP4, CDKN3 +5 more	Deletion	Microphthalmia with brain and digit anomalies +1 more	GPathogenic
Select item 1434076	NM_001202.6(BMP4):c.220A>G (p.Ser74Gly)	BMP4 (S11G +2 more)	Single nucleotide variant (missense variant)	Orofacial cleft 11 +1 more	GUncertain significance
Select item 1429870	NM_001202.6(BMP4):c.153T>G (p.His51Gln)	BMP4 (H51Q +1 more)	Single nucleotide variant (missense variant +1 more)	Orofacial cleft 11 +1 more	GUncertain significance
Select item 1424062	NM_001202.6(BMP4):c.568G>A (p.Val190Met)	BMP4 (V190M +2 more)	Single nucleotide variant (missense variant)	Orofacial cleft 11 +1 more	GUncertain significance
Select item 1381981	NM_001202.6(BMP4):c.118G>A (p.Gly40Ser)	BMP4 (G87S +1 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia with brain and digit anomalies +2 more	GConflicting classifications of pathogenicity
Select item 1371084	NM_001202.6(BMP4):c.668G>A (p.Arg223His)	BMP4 (R270H +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +1 more	GUncertain significance
Select item 1368151	NM_001202.6(BMP4):c.475C>T (p.Arg159Trp)	BMP4 (R96W +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +2 more	GUncertain significance
Select item 1352611	NM_001202.6(BMP4):c.200T>A (p.Leu67Gln)	BMP4 (L114Q +2 more)	Single nucleotide variant (missense variant)	Orofacial cleft 11 +1 more	GUncertain significance
Select item 1349863	NM_001202.6(BMP4):c.979G>A (p.Val327Met)	BMP4 (V264M +2 more)	Single nucleotide variant (missense variant)	Orofacial cleft 11 +1 more	GUncertain significance
Select item 1346066	NM_001202.6(BMP4):c.17G>A (p.Arg6Gln)	BMP4 (R6Q)	Single nucleotide variant (missense variant +1 more)	Microphthalmia with brain and digit anomalies +1 more	GUncertain significance
Select item 1311100	NM_001202.6(BMP4):c.351G>A (p.Val117=)	BMP4	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1307713	NM_001202.6(BMP4):c.928C>T (p.Arg310Cys)	BMP4 (R247C +2 more)	Single nucleotide variant (missense variant)	BMP4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1285542	NM_001202.6(BMP4):c.184C>G (p.Leu62Val)	BMP4 (L109V +1 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia with brain and digit anomalies +1 more	GUncertain significance
Select item 1284650	NM_001202.6(BMP4):c.348C>T (p.Thr116=)	BMP4	Single nucleotide variant (synonymous variant)	Orofacial cleft 11 +1 more	GLikely benign
Select item 1195040	NM_001202.6(BMP4):c.677G>A (p.Arg226Gln)	BMP4 (R163Q +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +2 more	GConflicting classifications of pathogenicity
Select item 1167993	NM_001202.6(BMP4):c.-7-163C>G	BMP4	Single nucleotide variant (intron variant)	Microphthalmia with brain and digit anomalies +2 more	GBenign
Select item 1167992	NM_001202.6(BMP4):c.-7-159T>G	BMP4	Single nucleotide variant (intron variant)	Microphthalmia with brain and digit anomalies +2 more	GBenign
Select item 1167991	NM_001202.6(BMP4):c.370+160C>T	BMP4	Single nucleotide variant (intron variant)	Microphthalmia with brain and digit anomalies +2 more	GBenign
Select item 1071168	NC_000014.8:g.(?_54416336)_54418690del	BMP4	Deletion	Orofacial cleft 11 +1 more	GPathogenic
Select item 1022631	NM_001202.6(BMP4):c.857G>A (p.Arg286Gln)	BMP4 (R223Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1006001	NM_001202.6(BMP4):c.935C>T (p.Ser312Leu)	BMP4 (S249L +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +1 more	GUncertain significance
Select item 971910	NM_001202.6(BMP4):c.426T>A (p.Phe142Leu)	BMP4 (F79L +2 more)	Single nucleotide variant (missense variant)	Orofacial cleft 11 +1 more	GUncertain significance
Select item 965809	NM_001202.6(BMP4):c.865_879delinsGT (p.Arg289fs)	BMP4 (R289fs +2 more)	Indel (frameshift variant)	Orofacial cleft 11 +1 more	GUncertain significance
Select item 883533	NM_001202.6(BMP4):c.291G>A (p.Glu97=)	BMP4	Single nucleotide variant (synonymous variant)	Orofacial cleft 11	GUncertain significance
Select item 883532	NM_001202.6(BMP4):c.305C>T (p.Thr102Ile)	BMP4 (T102I +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +1 more	GConflicting classifications of pathogenicity
Select item 883475	NM_001202.6(BMP4):c.*254A>T	BMP4	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 11	GUncertain significance
Select item 882794	NM_001202.6(BMP4):c.-329T>C	BMP4, LOC109433677	Single nucleotide variant (5 prime UTR variant +1 more)	Orofacial cleft 11	GUncertain significance
Select item 882793	NM_001202.6(BMP4):c.-251C>G	BMP4, LOC109433677	Single nucleotide variant (5 prime UTR variant +1 more)	Orofacial cleft 11	GUncertain significance
Select item 882740	NM_001202.6(BMP4):c.673A>G (p.Thr225Ala)	BMP4 (T272A +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +2 more	GConflicting classifications of pathogenicity
Select item 882739	NM_001202.6(BMP4):c.753T>C (p.His251=)	BMP4	Single nucleotide variant (synonymous variant)	Microphthalmia with brain and digit anomalies +2 more	GConflicting classifications of pathogenicity
Select item 881630	NM_001202.6(BMP4):c.-155G>A	BMP4, LOC109433677	Single nucleotide variant (5 prime UTR variant +1 more)	Microphthalmia with brain and digit anomalies +1 more	GBenign/Likely benign
Select item 881629	NM_001202.6(BMP4):c.124G>C (p.Ala42Pro)	BMP4 (A42P +1 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia with brain and digit anomalies +3 more	GConflicting classifications of pathogenicity
Select item 881588	NM_001202.6(BMP4):c.*28A>T	BMP4	Single nucleotide variant (3 prime UTR variant)	Microphthalmia with brain and digit anomalies +1 more	GBenign/Likely benign

<< First< Prev

Page of 2