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Links from MedGen

Items: 1 to 100 of 128

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHRNE, LOC130060041
(P351R)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 4A
+2 more
GLikely pathogenic
CHRNE
Single nucleotide variant
(splice donor variant)
Congenital myasthenic syndrome 4C
GPathogenic
CHRNE
(Y487*)
Single nucleotide variant
(nonsense)
Congenital myasthenic syndrome 4C
GUncertain significance
C17orf107, CHRNE
(R306M)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4A
+3 more
GConflicting classifications of pathogenicity
C17orf107, CHRNE
(Q283*)
Single nucleotide variant
(nonsense +1 more)
Congenital myasthenic syndrome 4B
+2 more
GPathogenic/Likely pathogenic
CHRNE
(A372V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
GFPT1
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 12
+2 more
GConflicting classifications of pathogenicity
CHRNE
(A477fs)
Deletion
(frameshift variant)
Congenital myasthenic syndrome 4A
+3 more
GPathogenic/Likely pathogenic
ASL
(T417fs +2 more)
Deletion
(frameshift variant)
Congenital myasthenic syndrome 4C
GPathogenic
CHRNE, C17orf107
(N190S)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4A
+2 more
GUncertain significance
CHRNE
(P340S)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 4A
+2 more
GUncertain significance
C17orf107, CHRNE
(V150fs)
Deletion
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4A
+1 more
GPathogenic
CHRNE
(E419fs)
Duplication
(frameshift variant)
Congenital myasthenic syndrome 4A
+2 more
GPathogenic/Likely pathogenic
C17orf107, CHRNE
(V147I)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4B
+2 more
GUncertain significance
CHRNB1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 4C
GUncertain significance
CHRNB1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 4C
GUncertain significance
CHRNB1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 4C
GUncertain significance
CHRNB1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 4C
GUncertain significance
CHRNB1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 4C
GUncertain significance
CHRNB1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 4C
GUncertain significance
CHRNB1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 4C
GUncertain significance
CHRNB1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 4C
GBenign
CHRNB1
(V252I)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 4C
+2 more
GConflicting classifications of pathogenicity
CHRNB1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 4C
GUncertain significance
CHRNB1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 4C
GUncertain significance
CHRNB1
(D161N)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 4C
+2 more
GUncertain significance
CHRNB1
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 4C
+1 more
GBenign/Likely benign
CHRNB1
(L79S)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 2A
+1 more
GUncertain significance
CHRNB1
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 2A
+1 more
GConflicting classifications of pathogenicity
CHRNB1
(Q450K)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 4C
GUncertain significance
CHRNB1
(P423Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CHRNB1
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 4C
GUncertain significance
CHAT
(S490* +2 more)
Single nucleotide variant
(nonsense)
Congenital myasthenic syndrome 4C
GLikely pathogenic
CHAT
(D246fs +2 more)
Deletion
(frameshift variant)
Familial infantile myasthenia
+1 more
GPathogenic/Likely pathogenic
CHRNB1, LOC130060147
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 4C
+1 more
GConflicting classifications of pathogenicity
CHRNB1
(M465T)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 2A
+2 more
GConflicting classifications of pathogenicity
CHRNB1
(F475S)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 4C
+2 more
GConflicting classifications of pathogenicity
CHRNE
(C423fs)
Duplication
(frameshift variant)
Abnormality of the musculature
+2 more
GPathogenic/Likely pathogenic
C17orf107, CHRNE
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 4C
+3 more
GBenign
C17orf107, CHRNE
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4A
+2 more
GLikely pathogenic
C17orf107, CHRNE
Indel
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4A
+2 more
GUncertain significance
CHRNB1
(I203fs)
Duplication
(frameshift variant)
Congenital myasthenic syndrome 2A
+1 more
GConflicting classifications of pathogenicity
CHRNE, LOC130060041
(E361fs)
Deletion
(frameshift variant)
Congenital myasthenic syndrome 4C
GPathogenic
CHRNB1
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 2A
+3 more
GBenign/Likely benign
CHRNE, C17orf107
(L299P)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+5 more
GUncertain significance
CHRNB1
(V114M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
C17orf107, CHRNE
(L9R)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 4A
+2 more
GUncertain significance
CHRNB1, LOC130060147
(A18G)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 2A
+1 more
GUncertain significance
CHRNE, C17orf107
(R237H)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+5 more
GUncertain significance
CHRNB1
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 4C
+2 more
GConflicting classifications of pathogenicity
GFPT1
Single nucleotide variant
(intron variant +1 more)
GFPT1-related myasthenic syndrome
+5 more
GPathogenic
C17orf107, CHRNE
(I194T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+6 more
GUncertain significance
CHRNE, C17orf107
(L98P)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CHRNB1
(V56A)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 4C
+3 more
GUncertain significance
C17orf107, CHRNE
(R40W)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4A
+3 more
GUncertain significance
CHRNE
Single nucleotide variant
(splice donor variant)
Congenital myasthenic syndrome 4C
+1 more
GPathogenic/Likely pathogenic
CHRNB1
(Y172*)
Single nucleotide variant
(nonsense)
Congenital myasthenic syndrome 4C
+1 more
GConflicting classifications of pathogenicity
CHRNB1
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 4C
+1 more
GBenign/Likely benign
CHRNE, LOC130060040
Duplication
(nonsense)
not provided
+2 more
GPathogenic
CHRNE, LOC130060041
Microsatellite
(inframe_insertion)
not provided
+3 more
GUncertain significance
C17orf107, CHRNE
(M312del)
Deletion
(5 prime UTR variant +1 more)
Congenital myasthenic syndrome 4A
+3 more
GPathogenic/Likely pathogenic
Fetal akinesia deformation sequence 1
+1 more
GLikely pathogenic
GFPT1
(R14Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
C17orf107, CHRNE
(P265L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
CHRNB1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 4C
GUncertain significance
CHRNB1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 4C
GUncertain significance
CHRNB1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 4C
GBenign
CHRNB1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 4C
GUncertain significance
CHRNB1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 4C
GBenign
CHRNB1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 4C
+1 more
GBenign
CHRNB1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 4C
GUncertain significance
CHRNB1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 4C
GUncertain significance
CHRNB1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 4C
+1 more
GBenign
CHRNB1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 4C
GUncertain significance
CHRNB1
(P409A)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 4C
+3 more
GConflicting classifications of pathogenicity
CHRNB1
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 2A
+1 more
GUncertain significance
CHRNB1
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 2A
+1 more
GUncertain significance
CHRNB1
(P363T)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 4C
GUncertain significance
CHRNB1
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 2A
+1 more
GConflicting classifications of pathogenicity
CHRNB1
(L332R)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 2A
+2 more
GUncertain significance
CHRNB1
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 4C
+2 more
GConflicting classifications of pathogenicity
CHRNB1
(G227E)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 4C
GUncertain significance
CHRNB1
(G189R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CHRNB1
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 4C
+1 more
GConflicting classifications of pathogenicity
CHRNB1
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 4C
GUncertain significance
CHRNB1
(R102P)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 2A
+2 more
GConflicting classifications of pathogenicity
CHRNB1
(A93G)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 4C
GUncertain significance
CHRNB1
Single nucleotide variant
(5 prime UTR variant)
not specified
+2 more
GBenign/Likely benign
CHRNB1
Single nucleotide variant
(5 prime UTR variant)
Congenital myasthenic syndrome 4C
GUncertain significance
C17orf107, CHRNE
(Q169L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome
+5 more
GConflicting classifications of pathogenicity
CHRNE
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 4B
+3 more
GBenign
CHRNE
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome 4B
+4 more
GBenign
LOC130060041, CHRNE
(E348K)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 4A
+4 more
GUncertain significance
CHRNE, C17orf107
(Y35H)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4A
+6 more
GConflicting classifications of pathogenicity
CHRNB1
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 2A
+2 more
GConflicting classifications of pathogenicity
CHRNB1
Single nucleotide variant
(3 prime UTR variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CHRNE, C17orf107
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4B
+4 more
GBenign
LOC130060040, CHRNE
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 4B
+4 more
GBenign/Likely benign
CHRNE
(N452fs)
Duplication
(frameshift variant)
Congenital myasthenic syndrome 4C
+3 more
GPathogenic
CHRNE, MINK1
+1 more
Deletion
(splice acceptor variant)
Congenital myasthenic syndrome 4C
+4 more
GPathogenic
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