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Links from MedGen

Items: 1 to 100 of 193

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BMP2
(Y78fs)
Deletion
(frameshift variant)
Type A2 brachydactyly
GUncertain significance
BMPR1B
Deletion
Type A2 brachydactyly
GLikely pathogenic
BMPR1B
(Q465* +1 more)
Single nucleotide variant
(nonsense)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
(T279I +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
(S175C +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
(F242C +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
Single nucleotide variant
(intron variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
(D113Y +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
Single nucleotide variant
(synonymous variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
Single nucleotide variant
(synonymous variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
Single nucleotide variant
(synonymous variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
(N284T +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
(T127S +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
Single nucleotide variant
(intron variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
Single nucleotide variant
(synonymous variant)
Acromesomelic dysplasia 3
+1 more
GBenign
BMPR1B
(K208Q +1 more)
Indel
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
(D365G +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
(P53A +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
(F242Y +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
(E16G +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
(I142T +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+2 more
GUncertain significance
BMPR1B
(D113H +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
(K208E +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
Single nucleotide variant
(intron variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
(I530V +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
(L176P +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
Microsatellite
(intron variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
Single nucleotide variant
(synonymous variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
Single nucleotide variant
(synonymous variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
(D166N +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
Single nucleotide variant
(synonymous variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
Single nucleotide variant
(synonymous variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
(P25H +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
(I366T +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
(Y281C +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
Single nucleotide variant
(synonymous variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
(I338V +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+2 more
GUncertain significance
BMPR1B
(S300L +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
(R456L +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
Single nucleotide variant
(synonymous variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
(C165fs +1 more)
Microsatellite
(frameshift variant)
Acromesomelic dysplasia 3
+1 more
GPathogenic
BMPR1B
(T198S +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
(S175F +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
(T185S +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
(S216T +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
Single nucleotide variant
(intron variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
Single nucleotide variant
(splice donor variant)
Acromesomelic dysplasia 3
+1 more
GLikely pathogenic
BMPR1B
(R121I +1 more)
Single nucleotide variant
(missense variant)
BMPR1B-related condition
+2 more
GUncertain significance
BMPR1B
(M466L +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+2 more
GUncertain significance
BMPR1B
(L194Q +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+2 more
GUncertain significance
BMPR1B
Single nucleotide variant
(synonymous variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
(R443T +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
Single nucleotide variant
(intron variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
(V410F +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
(T51I +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
(M236V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
BMPR1B
Single nucleotide variant
(synonymous variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
(V140G +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
Single nucleotide variant
(synonymous variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
(K322R +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
Single nucleotide variant
(intron variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
(R26H +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
(D113N +1 more)
Single nucleotide variant
(missense variant)
Type A2 brachydactyly
+1 more
GUncertain significance
BMPR1B
(V29F +1 more)
Single nucleotide variant
(missense variant)
Type A2 brachydactyly
+1 more
GUncertain significance
BMPR1B
(Q465R +1 more)
Single nucleotide variant
(missense variant)
Type A2 brachydactyly
+1 more
GLikely benign
BMPR1B
(T155N +1 more)
Single nucleotide variant
(missense variant)
Type A2 brachydactyly
+1 more
GLikely benign
BMPR1B
(M427T +1 more)
Single nucleotide variant
(missense variant)
Type A2 brachydactyly
+1 more
GUncertain significance
BMPR1B
(S310G +1 more)
Single nucleotide variant
(missense variant)
Type A2 brachydactyly
+1 more
GUncertain significance
BMPR1B
Single nucleotide variant
(synonymous variant)
Type A2 brachydactyly
+1 more
GLikely benign
BMPR1B
Single nucleotide variant
(intron variant)
Type A2 brachydactyly
+1 more
GLikely benign
BMPR1B
(Y177C +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
(E246A +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+2 more
GUncertain significance
BMPR1B
(E124K +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
(L363V +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
(H421Y +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
(A264S +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
(A357T +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
(D365N +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+2 more
GUncertain significance
BMPR1B
(K341N +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
(R413S +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
(C462F +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GUncertain significance
BMPR1B
(G467A +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+2 more
GUncertain significance
BMPR1B
Single nucleotide variant
(intron variant)
Type A2 brachydactyly
+1 more
GLikely benign
BMPR1B
Single nucleotide variant
(intron variant)
Type A2 brachydactyly
+1 more
GLikely benign
BMPR1B
Single nucleotide variant
(synonymous variant)
Type A2 brachydactyly
+1 more
GLikely benign
BMPR1B
(S175P +1 more)
Single nucleotide variant
(missense variant)
Type A2 brachydactyly
+2 more
GLikely benign
BMPR1B
Single nucleotide variant
(intron variant)
Type A2 brachydactyly
+1 more
GBenign
BMPR1B
Single nucleotide variant
(intron variant)
Type A2 brachydactyly
+1 more
GLikely benign
BMPR1B
Single nucleotide variant
(synonymous variant)
Type A2 brachydactyly
+1 more
GLikely benign
BMPR1B
Single nucleotide variant
(synonymous variant)
Type A2 brachydactyly
+1 more
GLikely benign
BMPR1B
Single nucleotide variant
(intron variant)
Type A2 brachydactyly
+1 more
GLikely benign
BMPR1B
Single nucleotide variant
(synonymous variant)
Type A2 brachydactyly
+1 more
GLikely benign
BMPR1B
Single nucleotide variant
(synonymous variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
Single nucleotide variant
(intron variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
(T361K +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
Single nucleotide variant
(intron variant)
Acromesomelic dysplasia 3
+1 more
GLikely benign
BMPR1B
Single nucleotide variant
(intron variant)
Type A2 brachydactyly
+1 more
GLikely benign
BMPR1B
(K299R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
BMPR1B
Single nucleotide variant
(synonymous variant)
Type A2 brachydactyly
+1 more
GLikely benign
BMPR1B
Single nucleotide variant
(synonymous variant)
Type A2 brachydactyly
+1 more
GLikely benign
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