"BMP4-related condition"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3049473	NM_001202.6(BMP4):c.1026C>G (p.Pro342=)	BMP4	Single nucleotide variant (synonymous variant)	BMP4-related condition	GLikely benign
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 3045639	NM_001202.6(BMP4):c.942T>C (p.Tyr314=)	BMP4	Single nucleotide variant (synonymous variant)	BMP4-related condition	GLikely benign
Select item 1307713	NM_001202.6(BMP4):c.928C>T (p.Arg310Cys)	BMP4 (R247C +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 17704	NM_001202.6(BMP4):c.860G>A (p.Arg287His)	BMP4 (R287H +2 more)	Single nucleotide variant (missense variant)	Orofacial cleft 11 +2 more	GBenign/Likely benign
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 882739	NM_001202.6(BMP4):c.753T>C (p.His251=)	BMP4	Single nucleotide variant (synonymous variant)	BMP4-related condition +2 more	GConflicting classifications of pathogenicity
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 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 29618	NM_001202.6(BMP4):c.362A>G (p.His121Arg)	BMP4 (H121R +2 more)	Single nucleotide variant (missense variant)	BMP4-related condition +3 more	GConflicting classifications of pathogenicity
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 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 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 3034612	NM_001202.6(BMP4):c.-87C>T	BMP4	Single nucleotide variant (5 prime UTR variant +1 more)	BMP4-related condition	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 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 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

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Items: 20