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Links from MedGen

Items: 1 to 100 of 495

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHRNE
Duplication
(splice donor variant)
Congenital myasthenic syndrome
GLikely pathogenic
C17orf107, CHRNE
(N202Y)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome
+1 more
GConflicting classifications of pathogenicity
CHRNE
(S373fs)
Deletion
(frameshift variant)
Congenital myasthenic syndrome 4A
+2 more
GPathogenic
COLQ
(C257fs +2 more)
Deletion
(frameshift variant)
Congenital myasthenic syndrome
GLikely pathogenic
DOK7
(E147fs +2 more)
Deletion
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome
GLikely pathogenic
DOK7
(Q151*)
Single nucleotide variant
(nonsense +1 more)
Congenital myasthenic syndrome 10
+2 more
GLikely pathogenic
CHAT
(R151* +2 more)
Single nucleotide variant
(nonsense)
Familial infantile myasthenia
+2 more
GPathogenic/Likely pathogenic
GFPT1
(E71*)
Single nucleotide variant
(nonsense)
Congenital myasthenic syndrome
GLikely pathogenic
CHAT
(E372fs +2 more)
Indel
(frameshift variant)
Congenital myasthenic syndrome
+1 more
GLikely pathogenic
GFPT1
Single nucleotide variant
(intron variant +1 more)
Congenital myasthenic syndrome
GLikely pathogenic
DOK7
Single nucleotide variant
(synonymous variant +1 more)
not provided
+4 more
GLikely pathogenic
DOK7
Deletion
Congenital myasthenic syndrome
GLikely pathogenic
CHRNE, C17orf107
(E151del)
Deletion
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4A
+1 more
GConflicting classifications of pathogenicity
COLQ
(G224* +2 more)
Single nucleotide variant
(nonsense)
Congenital myasthenic syndrome
+1 more
GPathogenic
CHRNE
(S329P)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome
GUncertain significance
GFPT1
(R512W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DOK7
(H171fs +2 more)
Duplication
(3 prime UTR variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
C17orf107, CHRNE
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4A
GLikely benign
C17orf107, CHRNE
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 4A
GLikely benign
C17orf107, CHRNE
(Y28*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4A
GPathogenic
C17orf107, CHRNE
(E177fs)
Deletion
(3 prime UTR variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
RAPSN
(C97*)
Single nucleotide variant
(nonsense)
Fetal akinesia deformation sequence 1
+2 more
GPathogenic
RAPSN
Single nucleotide variant
(splice donor variant)
Congenital myasthenic syndrome 11
+2 more
GPathogenic/Likely pathogenic
GFPT1
(T15M)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 12
+1 more
GPathogenic
RAPSN
(C106Y)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 11
+1 more
GUncertain significance
C17orf107, CHRNE
(V249M)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4A
GUncertain significance
CHRNE
(V464M)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 4A
+1 more
GUncertain significance
RAPSN
(E11D)
Single nucleotide variant
(missense variant)
Fetal akinesia deformation sequence 1
+2 more
GUncertain significance
C17orf107, CHRNE
(D125N)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4A
GUncertain significance
C17orf107, CHRNE
(S163W)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CHRNE, LOC130060041
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 4A
GLikely benign
RAPSN
(A272T)
Single nucleotide variant
(missense variant +1 more)
Fetal akinesia deformation sequence 1
+2 more
GUncertain significance
RAPSN
(C109G)
Single nucleotide variant
(missense variant)
Fetal akinesia deformation sequence 1
+1 more
GUncertain significance
RAPSN
(R205W)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 11
+1 more
GUncertain significance
C17orf107, CHRNE
(T200A)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
CHRNE
(R421C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CHRNE
(T335A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CHRNE, LOC130060041
(A365T)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 4A
GUncertain significance
RAPSN
(L302V +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 11
+1 more
GUncertain significance
CHRNE, C17orf107
(E68K)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4A
GUncertain significance
RAPSN
(L83Q)
Single nucleotide variant
(missense variant)
Fetal akinesia deformation sequence 1
+1 more
GUncertain significance
CHRNE, C17orf107
(I231V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4A
GUncertain significance
C17orf107, CHRNE
(V136M)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4A
+1 more
GUncertain significance
RAPSN
(N194S)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 11
+2 more
GUncertain significance
RAPSN
(T300M +1 more)
Single nucleotide variant
(missense variant)
Fetal akinesia deformation sequence 1
+1 more
GUncertain significance
CHRNE, LOC130060040
(E383del)
Microsatellite
(inframe_deletion)
Congenital myasthenic syndrome 4A
GUncertain significance
RAPSN
(L110F)
Single nucleotide variant
(missense variant)
Fetal akinesia deformation sequence 1
+1 more
GUncertain significance
CHRNE, C17orf107
(R306G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome
GPathogenic
RAPSN
Single nucleotide variant
(synonymous variant)
Fetal akinesia deformation sequence 1
+1 more
GLikely benign
RAPSN
(R44C)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome
GUncertain significance
RAPSN
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 11
+1 more
GLikely benign
RAPSN
(L202P)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome
GUncertain significance
RAPSN
(C228R)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome
GUncertain significance
C17orf107, CHRNE
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4A
GLikely benign
CHRNE, LOC130060041
(L350P)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome
GUncertain significance
CHRNE, LOC130060041
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 4A
GLikely benign
CHRNE, LOC130060041
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 4A
GLikely benign
RAPSN
Single nucleotide variant
(synonymous variant +1 more)
Congenital myasthenic syndrome 11
+1 more
GLikely benign
RAPSN
(L283V)
Single nucleotide variant
(missense variant +1 more)
Fetal akinesia deformation sequence 2
+2 more
GUncertain significance
RAPSN
(H270Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
RAPSN
(S273R +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 11
+1 more
GUncertain significance
RAPSN
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 11
+1 more
GLikely benign
RAPSN
Single nucleotide variant
(synonymous variant)
Fetal akinesia deformation sequence 1
+1 more
GUncertain significance
RAPSN
(R344H +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome
GUncertain significance
RAPSN
(M348I +1 more)
Single nucleotide variant
(missense variant)
Fetal akinesia deformation sequence 2
+2 more
GUncertain significance
RAPSN
(R151C)
Single nucleotide variant
(missense variant)
Fetal akinesia deformation sequence 1
+2 more
GUncertain significance
RAPSN
(R257W)
Single nucleotide variant
(missense variant)
Fetal akinesia deformation sequence 1
+1 more
GUncertain significance
CHRNE
(L475H)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 4A
+1 more
GUncertain significance
CHRNE
(P340R)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 4A
GUncertain significance
CHRNE, C17orf107
(N190S)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4A
+2 more
GUncertain significance
RAPSN
(G395R +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 11
+2 more
GUncertain significance
CHRNE, C17orf107
(R216C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
RAPSN
(L89V)
Single nucleotide variant
(missense variant)
Fetal akinesia deformation sequence 1
+2 more
GUncertain significance
RAPSN
(D270N)
Single nucleotide variant
(missense variant +1 more)
Fetal akinesia deformation sequence 1
+2 more
GUncertain significance
C17orf107, CHRNE
(C273S)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4A
GLikely benign
CHRNE
(R421H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CHRNE
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 4A
GUncertain significance
C17orf107, CHRNE
(L6F)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 4A
+1 more
GUncertain significance
C17orf107, CHRNE
(F120S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
RAPSN
(A288V)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
C17orf107, CHRNE
(T137M)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4A
GUncertain significance
C17orf107, CHRNE
(I235M)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4A
GUncertain significance
CHRNE
(P340S)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 4A
+2 more
GUncertain significance
C17orf107, CHRNE
(I207V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4A
GUncertain significance
CHRNE
(R449S)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 4A
+1 more
GUncertain significance
RAPSN
(A159T)
Single nucleotide variant
(missense variant)
Fetal akinesia deformation sequence 1
+2 more
GUncertain significance
CHRNE
(I491V)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 4A
GUncertain significance
RAPSN
(R221C)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 11
+1 more
GUncertain significance
C17orf107, CHRNE
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4A
GUncertain significance
CHRNE
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 4A
GLikely benign
CHRNE, LOC130060041
(P351S)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 4A
+1 more
GUncertain significance
CHRND
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome
+1 more
GUncertain significance
CHRND
Single nucleotide variant
(3 prime UTR variant)
Lethal multiple pterygium syndrome
+1 more
GUncertain significance
CHRND
Single nucleotide variant
(3 prime UTR variant)
Lethal multiple pterygium syndrome
+1 more
GUncertain significance
CHRND
Single nucleotide variant
(intron variant)
CHRND-related disorder
+2 more
GConflicting classifications of pathogenicity
CHRND
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome
+1 more
GUncertain significance
CHRND, CHRNG
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome
+1 more
GConflicting classifications of pathogenicity
CHRND
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome
+1 more
GUncertain significance
CHRND
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome
+1 more
GConflicting classifications of pathogenicity
CHRND
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome
+1 more
GUncertain significance
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