BMP7 — 130 ClinVar variants
All ClinVar germline BMP7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →
2 Pathogenic · 33 Benign · 24 Likely benign · 71 Uncertain significance
Full BMP7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 69
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 33
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BMP7 p.Pro116Ser Uncertain significance Multiple submitters
- BMP7 p.Ala316Ser Uncertain significance Single submitter
- BMP7 p.Ala329Ser Uncertain significance Single submitter
- BMP7 p.Ala350Val Uncertain significance Single submitter
- BMP7 p.Arg182Trp Uncertain significance Single submitter
- BMP7 p.Arg184Gly Uncertain significance Single submitter
- BMP7 p.Arg240Gln Uncertain significance Single submitter
- BMP7 p.Arg7Pro Uncertain significance Single submitter
- BMP7 p.Asn375Ser Uncertain significance Single submitter
- BMP7 p.Asn77Asp Uncertain significance Single submitter
- BMP7 p.Asn77Ser Uncertain significance Single submitter
- BMP7 p.Asp325Asn Uncertain significance Single submitter
- BMP7 p.Asp341Asn Uncertain significance Single submitter
- BMP7 p.Asp34Glu Uncertain significance Single submitter
- BMP7 p.Asp85Glu Uncertain significance Single submitter
- BMP7 p.Glu53Lys Uncertain significance Single submitter
- BMP7 p.Gly102Asp Uncertain significance Single submitter
- BMP7 p.Gly266Arg Uncertain significance Single submitter
- BMP7 p.Gly295Glu Uncertain significance Single submitter
- BMP7 p.His12Gln Uncertain significance Single submitter
- BMP7 p.Leu160Pro Uncertain significance Single submitter
- BMP7 p.Met90Arg Uncertain significance Single submitter
- BMP7 p.Pro11Arg Uncertain significance Single submitter
- BMP7 p.Pro20Ser Uncertain significance Single submitter
-
BMP7 p.Ser112Gly
Uncertain significance
Single submitter
congenital anomaly of kidney and urinary tract
-
BMP7 p.Ser300Arg
Uncertain significance
Single submitter
congenital anomaly of kidney and urinary tract
- BMP7 p.Thr294Ala Uncertain significance Single submitter
- BMP7 p.Thr399Met Uncertain significance Single submitter
- BMP7 p.Val194Ile Uncertain significance Single submitter
- BMP7 p.Val286Ala Uncertain significance Single submitter
- BMP7 p.Val318Met Uncertain significance Single submitter
-
BMP7 p.Val415Ile
Uncertain significance
Single submitter
BMP7-related disorder
-
BMP7 p.Ala29Ser
Uncertain significance
No assertion criteria
BMP7-related disorder
Predictors split 36
The independent predictors disagree with each other — read with care.
- BMP7 p.Arg150His Uncertain significance Multiple submitters
- BMP7 p.Arg267Gln Uncertain significance Multiple submitters
- BMP7 p.His241Tyr Uncertain significance Multiple submitters
- BMP7 p.Ile386Val Uncertain significance Multiple submitters
-
BMP7 p.Leu160Phe
Uncertain significance
Multiple submitters
BMP7-related disorder
-
BMP7 p.Ser248Leu
Uncertain significance
Multiple submitters
BMP7-related disorder
-
BMP7 p.Thr251Met
Uncertain significance
Multiple submitters
congenital anomaly of kidney and urinary tract
-
BMP7 p.Ala329Gly
Uncertain significance
Single submitter
BMP7-related disorder
- BMP7 p.Ala329Pro Uncertain significance Single submitter
- BMP7 p.Ala364Ser Uncertain significance Single submitter
- BMP7 p.Ala427Thr Uncertain significance Single submitter
- BMP7 p.Arg154Gln Uncertain significance Single submitter
- BMP7 p.Arg214Cys Uncertain significance Single submitter
- BMP7 p.Arg240Trp Uncertain significance Single submitter
-
BMP7 p.Arg289His
Uncertain significance
Single submitter
nephrotic syndrome, type 12
- BMP7 p.Arg303Cys Uncertain significance Single submitter
- BMP7 p.Arg314Trp Uncertain significance Single submitter
- BMP7 p.Arg426Gln Uncertain significance Single submitter
- BMP7 p.Asn138Ser Uncertain significance Single submitter
- BMP7 p.Asn402His Uncertain significance Single submitter
- BMP7 p.Glu250Gly Uncertain significance Single submitter
- BMP7 p.Glu94Lys Uncertain significance Single submitter
- BMP7 p.Leu160Val Uncertain significance Single submitter
- BMP7 p.Leu198Phe Uncertain significance Single submitter
- BMP7 p.Leu264Met Uncertain significance Single submitter
- BMP7 p.Lys162Asn Uncertain significance Single submitter
- BMP7 p.Met54Thr Uncertain significance Single submitter
- BMP7 p.Pro239Leu Uncertain significance Single submitter
- BMP7 p.Ser219Leu Uncertain significance Single submitter
- BMP7 p.Ser40Arg Uncertain significance Single submitter
- BMP7 p.Thr189Met Uncertain significance Single submitter
- BMP7 p.Thr231Ala Uncertain significance Single submitter
- BMP7 p.Thr284Met Uncertain significance Single submitter
- BMP7 p.Thr294Met Uncertain significance Single submitter
- BMP7 p.Val197Met Uncertain significance Single submitter
-
BMP7 p.Ala283Thr
Benign
No assertion criteria
tetralogy of fallot
All BMP7 variants
Pathogenic 2
- p.Arg175Trp No assertion criteria congenital heart defects, multiple types, 4
- p.Asp85Val No assertion criteria ventricular septal defect 1
Benign 33
- c.1146+192G>A Multiple submitters
- c.1146+50C>T Multiple submitters
- c.761-73A>G Multiple submitters
- c.761-73A>T Multiple submitters
- c.959-141C>A Multiple submitters
- c.-363C>T Multiple submitters
- p.Asn321Ser Multiple submitters congenital total pulmonary venous return anomaly
- p.Gln199= Multiple submitters
- p.Glu93= Multiple submitters
- p.His152= Multiple submitters
- p.Ser405= Multiple submitters
- c.1035+206T>C Single submitter
- c.1035+6G>A Single submitter
- c.1036-341_1036-337del Single submitter
- c.1147-152A>G Single submitter
- c.418+227G>A Single submitter
- c.418+283G>T Single submitter
- c.419-210G>A Single submitter
- c.611+136G>A Single submitter
- c.611+176G>A Single submitter
- c.611+6228C>A Single submitter
- c.612-5C>T Single submitter
- c.760+180A>G Single submitter
- c.761-182A>G Single submitter
- c.958+123T>C Single submitter
- c.958+186T>C Single submitter
- c.958+216G>A Single submitter
- c.958+296del Single submitter
- p.Arg191= Single submitter
- p.Gly269= Single submitter
- p.Ile348= Single submitter
- p.Met315Ile Single submitter atrial septal defect 8
- p.Ala283Thr No assertion criteria tetralogy of fallot ⚠
Likely benign 24
- c.958+54C>T Multiple submitters
- c.-146C>T Multiple submitters
- c.1146+151dup Single submitter
- c.418+10G>A Single submitter
- c.418+172C>A Single submitter
- c.419-7C>T Single submitter
- c.611+14G>A Single submitter
- c.612-117G>A Single submitter
- c.-145G>A Single submitter
- p.Ala10= Single submitter
- p.Ala172= Single submitter
- p.Ala262= Single submitter
- p.Ala91= Single submitter
- p.Arg175= Single submitter
- p.Arg289= Single submitter
- p.Arg51= Single submitter
- p.Lys418= Single submitter
- p.Pro388= Single submitter
- p.Ser324= Single submitter
- p.Thr284= Single submitter
- p.Asn368= No assertion criteria BMP7-related disorder
- p.Gln49= No assertion criteria BMP7-related disorder
- p.Pro116= No assertion criteria BMP7-related disorder
- p.Thr294= No assertion criteria BMP7-related disorder
Uncertain significance 71
- p.Arg150His Multiple submitters ⚠
- p.Arg267Gln Multiple submitters ⚠
- p.His241Tyr Multiple submitters ⚠
- p.Ile386Val Multiple submitters ⚠
- p.Leu160Phe Multiple submitters BMP7-related disorder ⚠
- p.Pro116Ser Multiple submitters ⚠
- p.Ser248Leu Multiple submitters BMP7-related disorder ⚠
- p.Thr251Met Multiple submitters congenital anomaly of kidney and urinary tract ⚠
- c.1147-3C>T Single submitter
- p.Ala230_Thr231del Single submitter
- p.Ala316Ser Single submitter ⚠
- p.Ala329Gly Single submitter BMP7-related disorder ⚠
- p.Ala329Pro Single submitter ⚠
- p.Ala329Ser Single submitter ⚠
- p.Ala350Val Single submitter ⚠
- p.Ala364Ser Single submitter ⚠
- p.Ala427Thr Single submitter ⚠
- p.Arg154Gln Single submitter ⚠
- p.Arg182Trp Single submitter ⚠
- p.Arg184Gly Single submitter ⚠
- p.Arg214Cys Single submitter ⚠
- p.Arg240Gln Single submitter ⚠
- p.Arg240Trp Single submitter ⚠
- p.Arg289His Single submitter nephrotic syndrome, type 12 ⚠
- p.Arg303Cys Single submitter ⚠
- p.Arg314Trp Single submitter ⚠
- p.Arg426Gln Single submitter ⚠
- p.Arg7Pro Single submitter ⚠
- p.Asn138Ser Single submitter ⚠
- p.Asn375Ser Single submitter ⚠
- p.Asn402His Single submitter ⚠
- p.Asn77Asp Single submitter ⚠
- p.Asn77Ser Single submitter ⚠
- p.Asp325Asn Single submitter ⚠
- p.Asp341Asn Single submitter ⚠
- p.Asp34Glu Single submitter ⚠
- p.Asp85Glu Single submitter ⚠
- p.Glu250Gly Single submitter ⚠
- p.Glu53Lys Single submitter ⚠
- p.Glu94Lys Single submitter ⚠
- p.Gly102Asp Single submitter ⚠
- p.Gly266Arg Single submitter ⚠
- p.Gly295Glu Single submitter ⚠
- p.His12Gln Single submitter ⚠
- p.His153fs Single submitter
- p.Leu160Pro Single submitter ⚠
- p.Leu160Val Single submitter ⚠
- p.Leu198Phe Single submitter ⚠
- p.Leu264Met Single submitter ⚠
- p.Lys162Asn Single submitter ⚠
- p.Met54Thr Single submitter ⚠
- p.Met90Arg Single submitter ⚠
- p.Pro11Arg Single submitter ⚠
- p.Pro20Ser Single submitter ⚠
- p.Pro239Leu Single submitter ⚠
- p.Ser112Gly Single submitter congenital anomaly of kidney and urinary tract ⚠
- p.Ser219Leu Single submitter ⚠
- p.Ser300Arg Single submitter congenital anomaly of kidney and urinary tract ⚠
- p.Ser40Arg Single submitter ⚠
- p.Thr189Met Single submitter ⚠
- p.Thr231Ala Single submitter ⚠
- p.Thr284Met Single submitter ⚠
- p.Thr294Ala Single submitter ⚠
- p.Thr294Met Single submitter ⚠
- p.Thr399Met Single submitter ⚠
- p.Val194Ile Single submitter ⚠
- p.Val197Met Single submitter ⚠
- p.Val286Ala Single submitter ⚠
- p.Val318Met Single submitter ⚠
- p.Val415Ile Single submitter BMP7-related disorder ⚠
- p.Ala29Ser No assertion criteria BMP7-related disorder ⚠