ClinVar for Gene (Select 652) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3134543	NM_001202.6(BMP4):c.403A>G (p.Asn135Asp)	BMP4 (N182D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134542	NM_001202.6(BMP4):c.338G>A (p.Arg113Gln)	BMP4 (R113Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134541	NM_001202.6(BMP4):c.329C>T (p.Pro110Leu)	BMP4 (P110L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134540	NM_001202.6(BMP4):c.167A>T (p.Asp56Val)	BMP4 (D56V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3066294	NM_001202.6(BMP4):c.539_561del (p.Ile180fs)	BMP4 (I117fs +2 more)	Deletion (frameshift variant)	Microphthalmia with brain and digit anomalies	GUncertain significance
Select item 3063322	GRCh37/hg19 14q22.2(chr14:54361222-54823763)x1	BMP4	Copy number loss	not specified	GPathogenic
Select item 3061843	GRCh38/hg38 14q22.2-22.3(chr14:53949639-56297420)x1	CGRRF1, LOC130055695 +89 more	Copy number loss	Dystonia 5	GPathogenic
Select item 3061441	NM_001202.6(BMP4):c.729G>C (p.Gln243His)	BMP4 (Q180H +2 more)	Single nucleotide variant (missense variant)	BMP4-related condition	GUncertain significance
Select item 3050720	NM_001202.6(BMP4):c.-335G>C	BMP4, LOC109433677	Single nucleotide variant (5 prime UTR variant +1 more)	BMP4-related condition	GLikely benign
Select item 3049473	NM_001202.6(BMP4):c.1026C>G (p.Pro342=)	BMP4	Single nucleotide variant (synonymous variant)	BMP4-related condition	GLikely benign
Select item 3045639	NM_001202.6(BMP4):c.942T>C (p.Tyr314=)	BMP4	Single nucleotide variant (synonymous variant)	BMP4-related condition	GLikely benign
Select item 3044168	NM_001202.6(BMP4):c.-365C>G	BMP4, LOC109433677 (S13R)	Single nucleotide variant (5 prime UTR variant +1 more)	BMP4-related condition	GUncertain significance
Select item 3034612	NM_001202.6(BMP4):c.-87C>T	BMP4	Single nucleotide variant (5 prime UTR variant +1 more)	BMP4-related condition	GBenign
Select item 3032625	NM_001202.6(BMP4):c.1176G>A (p.Val392=)	BMP4	Single nucleotide variant (synonymous variant)	BMP4-related condition	GLikely benign
Select item 3026515	NM_001202.6(BMP4):c.856C>T (p.Arg286Ter)	BMP4 (R223* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2953029	NM_001202.6(BMP4):c.560C>T (p.Pro187Leu)	BMP4 (P124L +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +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)	Orofacial cleft 11 +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)	Orofacial cleft 11 +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)	Orofacial cleft 11 +1 more	GUncertain significance
Select item 2928490	NM_001202.6(BMP4):c.762T>C (p.Ile254=)	BMP4	Single nucleotide variant (synonymous variant)	Orofacial cleft 11 +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)	Orofacial cleft 11 +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)	Microphthalmia with brain and digit anomalies +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 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2662638	NM_001202.6(BMP4):c.277G>T (p.Glu93Ter)	BMP4 (E140* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2644247	NM_001202.6(BMP4):c.147_148dup	BMP4	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 2633667	NM_001202.6(BMP4):c.-97G>T	BMP4 (C33F)	Single nucleotide variant (5 prime UTR variant +1 more)	BMP4-related condition	GUncertain significance
Select item 2631942	NM_001202.6(BMP4):c.326G>A (p.Arg109His)	BMP4 (R109H +2 more)	Single nucleotide variant (missense variant)	BMP4-related condition	GUncertain significance
Select item 2611814	NM_001202.6(BMP4):c.703G>C (p.Ala235Pro)	BMP4 (A235P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606564	NM_001202.6(BMP4):c.769T>C (p.Ser257Pro)	BMP4 (S194P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606402	NM_001202.6(BMP4):c.119G>A (p.Gly40Asp)	BMP4 (G40D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2531165	NM_001202.6(BMP4):c.1088C>T (p.Ser363Phe)	BMP4 (S363F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498193	NM_001202.6(BMP4):c.370+441G>A	BMP4	Single nucleotide variant (intron variant)	Kapur-Toriello syndrome	GUncertain significance
Select item 2439534	NM_001202.6(BMP4):c.43C>G (p.Gln15Glu)	BMP4 (Q15E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2439533	NM_001202.6(BMP4):c.101A>G (p.Lys34Arg)	BMP4 (K34R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2431357	NM_001202.6(BMP4):c.734G>A (p.Arg245Gln)	BMP4 (R182Q +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies	GUncertain significance
Select item 2423893	NC_000014.8:g.(?_53513486)_(54418940_?)dup	BMP4, DDHD1	Duplication	Hereditary spastic paraplegia 28	GUncertain significance
Select item 2422501	NC_000014.8:g.(?_54410919)_(55369403_?)del	BMP4, CDKN3 +5 more	Deletion	Dystonia 5 +1 more	GPathogenic
Select item 2381876	NM_001202.6(BMP4):c.88A>G (p.Thr30Ala)	BMP4 (T77A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301648	NM_001202.6(BMP4):c.1171A>G (p.Lys391Glu)	BMP4 (K328E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284292	NM_001202.6(BMP4):c.373C>T (p.His125Tyr)	BMP4 (H172Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2214282	NM_001202.6(BMP4):c.593G>A (p.Arg198Gln)	BMP4 (R135Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211655	NM_001202.6(BMP4):c.496G>A (p.Asp166Asn)	BMP4 (D166N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205310	NM_001202.6(BMP4):c.1099A>C (p.Ser367Arg)	BMP4 (S304R +2 more)	Single nucleotide variant (missense variant)	BMP4-related condition +1 more	GUncertain significance
Select item 2200149	NM_001202.6(BMP4):c.813C>T (p.Leu271=)	BMP4	Single nucleotide variant (synonymous variant)	BMP4-related condition +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)	Orofacial cleft 11 +1 more	GUncertain significance
Select item 2169277	NM_001202.6(BMP4):c.1209G>A (p.Glu403=)	BMP4	Single nucleotide variant (synonymous variant)	Microphthalmia with brain and digit anomalies +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)	Inborn genetic diseases +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)	Orofacial cleft 11 +1 more	GBenign
Select item 2163080	NM_001202.6(BMP4):c.731C>T (p.Thr244Ile)	BMP4 (T244I +2 more)	Single nucleotide variant (missense variant)	Orofacial cleft 11 +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)	Orofacial cleft 11 +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)	Orofacial cleft 11 +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 +1 more	GUncertain significance
Select item 2142241	NM_001202.6(BMP4):c.1076C>T (p.Thr359Ile)	BMP4 (T406I +2 more)	Single nucleotide variant (missense variant)	Orofacial cleft 11 +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)	Microphthalmia with brain and digit anomalies +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)	Microphthalmia with brain and digit anomalies +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)	Microphthalmia with brain and digit anomalies +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)	Microphthalmia with brain and digit anomalies +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)	Orofacial cleft 11 +1 more	GUncertain significance
Select item 2034083	NM_001202.6(BMP4):c.671G>A (p.Trp224Ter)	BMP4 (W271* +2 more)	Single nucleotide variant (nonsense)	Microphthalmia with brain and digit anomalies +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)	Microphthalmia with brain and digit anomalies +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)	Microphthalmia with brain and digit anomalies +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)	Microphthalmia with brain and digit anomalies +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)	Microphthalmia with brain and digit anomalies +1 more	GUncertain significance
Select item 1974220	NM_001202.6(BMP4):c.123C>T (p.His41=)	BMP4	Single nucleotide variant (5 prime UTR variant +1 more)	Microphthalmia with brain and digit anomalies +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)	Orofacial cleft 11 +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)	Microphthalmia with brain and digit anomalies +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 1710448	NM_001202.6(BMP4):c.683A>G (p.Lys228Arg)	BMP4 (K165R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710338	NM_001202.6(BMP4):c.1118G>A (p.Cys373Tyr)	BMP4 (C310Y +2 more)	Single nucleotide variant (missense variant)	Irido-corneo-trabecular dysgenesis	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1705059	NM_001202.6(BMP4):c.733C>T (p.Arg245Trp)	BMP4 (R182W +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +3 more	GUncertain significance
Select item 1691786	NM_001202.6(BMP4):c.863G>A (p.Arg288Gln)	BMP4 (R225Q +2 more)	Single nucleotide variant	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1678395	NM_001202.6(BMP4):c.-8_-8+40del	BMP4	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 1672848	NM_001202.6(BMP4):c.1179A>G (p.Val393=)	BMP4	Single nucleotide variant (synonymous variant)	Orofacial cleft 11 +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)	Microphthalmia with brain and digit anomalies +2 more	GConflicting classifications of pathogenicity
Select item 1566916	NM_001202.6(BMP4):c.1032A>G (p.Pro344=)	BMP4	Single nucleotide variant (synonymous variant)	Microphthalmia with brain and digit anomalies +2 more	GLikely benign
Select item 1559025	NM_001202.6(BMP4):c.510T>C (p.Asp170=)	BMP4	Single nucleotide variant (synonymous variant)	Orofacial cleft 11 +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

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