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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHRND
(L279F +3 more)
Single nucleotide variant
(missense variant)
Lethal multiple pterygium syndrome
+1 more
GConflicting classifications of pathogenicity
CHRNA1
(A142T +1 more)
Single nucleotide variant
(missense variant)
Myasthenic syndrome, slow-channel congenital
GUncertain significance
C17orf107, CHRNE
(E44fs)
Duplication
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4A
+6 more
GPathogenic
CHRNA1
(S271F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CHRNA1
(S271Y +1 more)
Single nucleotide variant
(missense variant)
Myasthenic syndrome, slow-channel congenital
GPathogenic
COLQ
(Y430S +2 more)
Single nucleotide variant
(missense variant)
Myasthenic syndrome, slow-channel congenital
+1 more
GPathogenic
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