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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BMPR1B
(T24I +1 more)
Single nucleotide variant
(missense variant)
Brachydactyly type A1D
+1 more
GUncertain significance
BMPR1B
(R214S +1 more)
Single nucleotide variant
(missense variant)
Brachydactyly type A1D
+3 more
GPathogenic
BMPR1B
Single nucleotide variant
(intron variant)
Brachydactyly
+3 more
GBenign/Likely benign
BMPR1B
(K325N +1 more)
Single nucleotide variant
(missense variant)
Brachydactyly type A1D
GPathogenic
BMPR1B
Single nucleotide variant
(splice acceptor variant)
Brachydactyly type A1D
GPathogenic
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