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Links from MedGen

Items: 1 to 100 of 190

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
Single nucleotide variant
(intron variant)
Acromesomelic dysplasia 3
GUncertain significance
BMPR1B
Single nucleotide variant
(intron variant)
Acromesomelic dysplasia 3
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
(G373D +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
GUncertain significance
BMPR1B
(R112W +1 more)
Single nucleotide variant
(missense variant)
Acromesomelic dysplasia 3
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
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