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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IHH
(M1V)
Single nucleotide variant
(missense variant +1 more)
Brachydactyly type A1A
GLikely pathogenic
IHH
(Q263*)
Single nucleotide variant
(nonsense)
Brachydactyly type A1A
GConflicting classifications of pathogenicity
IHH
(H139fs)
Duplication
(frameshift variant)
Brachydactyly type A1A
GPathogenic
IHH
(T284M)
Single nucleotide variant
(missense variant)
Brachydactyly type A1A
+1 more
GUncertain significance
IHH
Single nucleotide variant
(synonymous variant)
Acrocapitofemoral dysplasia
+3 more
GBenign/Likely benign
IHH
(D100N)
Single nucleotide variant
(missense variant)
Brachydactyly type A1A
+1 more
GPathogenic
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