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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COMP
(M1V)
Single nucleotide variant
(missense variant +1 more)
Carpal tunnel syndrome 2
GUncertain significance
COMP
(V66E)
Single nucleotide variant
(missense variant)
Carpal tunnel syndrome 2
GPathogenic
COMP
(D385N)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
COMP
Single nucleotide variant
(synonymous variant)
Carpal tunnel syndrome 2
+4 more
GBenign
COMP
(A171T)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign
COMP
(T585R)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
+2 more
GPathogenic
COMP
(R718W)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
+1 more
GPathogenic/Likely pathogenic
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