"GeneDx"[submitter] AND "BMP4"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic
Select item 1256684	NC_000014.9:g.53949729del	BMP4	Deletion	not provided	GBenign
Select item 313344	NM_001202.6(BMP4):c.146_148dup	BMP4	Duplication (3 prime UTR variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 313342	NM_001202.6(BMP4):c.148_149insAAT	BMP4	Insertion (3 prime UTR variant)	Syndromic Microphthalmia, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 313341	NM_001202.6(BMP4):c.148_149insT	BMP4	Insertion (3 prime UTR variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 313339	NM_001202.6(BMP4):c.148_149insAT	BMP4	Insertion (3 prime UTR variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 313338	NM_001202.6(BMP4):c.148_149del	BMP4	Deletion (3 prime UTR variant)	Syndromic Microphthalmia, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 1189262	NM_001202.6(BMP4):c.*148del	BMP4	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 313349	NM_001202.6(BMP4):c.*88C>T	BMP4	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 3370640	NM_001202.6(BMP4):c.1010G>A (p.Cys337Tyr)	BMP4 (C274Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307713	NM_001202.6(BMP4):c.928C>T (p.Arg310Cys)	BMP4 (R247C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 388306	NM_001202.6(BMP4):c.898C>T (p.Arg300Trp)	BMP4 (R300W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 1308531	NM_001202.6(BMP4):c.818T>C (p.Val273Ala)	BMP4 (V210A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331305	NM_001202.6(BMP4):c.766C>T (p.Arg256Ter)	BMP4 (R193* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 3365963	NM_001202.6(BMP4):c.676del (p.Arg226fs)	BMP4 (R163fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 497489	NM_001202.6(BMP4):c.676C>T (p.Arg226Trp)	BMP4 (R226W +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +3 more	GConflicting classifications of pathogenicity
Select item 424492	NM_001202.6(BMP4):c.512G>A (p.Trp171Ter)	BMP4 (W171* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 197190	NM_001202.6(BMP4):c.455T>C (p.Val152Ala)	BMP4 (V152A +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +4 more	GBenign/Likely benign
Select item 1327682	NM_001202.6(BMP4):c.398G>A (p.Ser133Asn)	BMP4 (S133N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421813	NM_001202.6(BMP4):c.380_392del (p.Glu127fs)	BMP4 (E174fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1205512	NM_001202.6(BMP4):c.371-24C>T	BMP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1311175	NM_001202.6(BMP4):c.370+1G>T	BMP4	Single nucleotide variant (splice donor variant)	not provided	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 767320	NM_001202.6(BMP4):c.345C>T (p.Asn115=)	BMP4	Single nucleotide variant (synonymous variant)	Orofacial cleft 11 +2 more	GConflicting classifications of pathogenicity
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 3365210	NM_001202.6(BMP4):c.248T>G (p.Met83Arg)	BMP4 (M130R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 313353	NM_001202.6(BMP4):c.224A>G (p.Lys75Arg)	BMP4 (K75R +2 more)	Single nucleotide variant (missense variant)	Microphthalmia with brain and digit anomalies +4 more	GUncertain significance
Select item 313354	NM_001202.6(BMP4):c.215A>G (p.Gln72Arg)	BMP4 (Q72R +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 881629	NM_001202.6(BMP4):c.124G>C (p.Ala42Pro)	BMP4 (A42P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1192498	NM_001202.6(BMP4):c.-7-39A>G	BMP4	Single nucleotide variant (intron variant)	Microphthalmia with brain and digit anomalies +1 more	GBenign
Select item 1291561	NM_001202.6(BMP4):c.-7-133G>C	BMP4	Single nucleotide variant (intron variant)	not provided	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 1167993	NM_001202.6(BMP4):c.-7-163C>G	BMP4	Single nucleotide variant (intron variant)	Microphthalmia with brain and digit anomalies +2 more	GBenign

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Items: 36