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Links from MedGen

Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDP, NDP-AS1
(L103V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Atrophia bulborum hereditaria
GLikely pathogenic
NDP, NDP-AS1
(E76fs)
Duplication
(non-coding transcript variant +1 more)
Atrophia bulborum hereditaria
GPathogenic
NDP, NDP-AS1
(Y44fs)
Deletion
(frameshift variant)
Atrophia bulborum hereditaria
GLikely pathogenic
NDP, NDP-AS1
(M1I)
Single nucleotide variant
(missense variant +1 more)
Atrophia bulborum hereditaria
+1 more
GConflicting classifications of pathogenicity
NDP, NDP-AS1
(F81S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Atrophia bulborum hereditaria
GLikely pathogenic
NDP-AS1, NDP
(G20*)
Single nucleotide variant
(nonsense)
Atrophia bulborum hereditaria
GPathogenic
NDP, NDP-AS1
(T119P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Atrophia bulborum hereditaria
GLikely pathogenic
NDP, NDP-AS1
(R90H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hearing impairment
+1 more
GConflicting classifications of pathogenicity
NDP, NDP-AS1
(R90C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Atrophia bulborum hereditaria
GLikely pathogenic
NDP, NDP-AS1
(L52*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
TSPAN12
(C181F)
Single nucleotide variant
(missense variant)
Atrophia bulborum hereditaria
+3 more
GPathogenic
FZD4, PRSS23
(M105V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+4 more
GPathogenic
NDP, NDP-AS1
(R74C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GPathogenic
NDP, NDP-AS1
(R37*)
Single nucleotide variant
(nonsense)
Atrophia bulborum hereditaria
+1 more
GPathogenic/Likely pathogenic
NDP, NDP-AS1
(S101F)
Single nucleotide variant
(non-coding transcript variant +1 more)
Atrophia bulborum hereditaria
GPathogenic
NDP, NDP-AS1
(S73*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Atrophia bulborum hereditaria
GPathogenic
NDP, NDP-AS1
(V45E)
Single nucleotide variant
(missense variant)
Atrophia bulborum hereditaria
GPathogenic
NDP, NDP-AS1
(C96W)
Single nucleotide variant
(non-coding transcript variant +1 more)
Atrophia bulborum hereditaria
GPathogenic
NDP, NDP-AS1
(A105T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Atrophia bulborum hereditaria
GPathogenic
NDP, NDP-AS1
(D35fs)
Deletion
(frameshift variant)
Atrophia bulborum hereditaria
GPathogenic
NDP, NDP-AS1
(L61F)
Single nucleotide variant
(non-coding transcript variant +1 more)
Atrophia bulborum hereditaria
GPathogenic
NDP, NDP-AS1
(L13R)
Single nucleotide variant
(missense variant)
Atrophia bulborum hereditaria
GPathogenic
NDP, NDP-AS1
(R121W)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
NDP, NDP-AS1
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
NDP, NDP-AS1
(C128*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Atrophia bulborum hereditaria
+1 more
GPathogenic
NDP, NDP-AS1
(C69S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Atrophia bulborum hereditaria
GPathogenic
NDP, NDP-AS1
(C96Y)
Single nucleotide variant
(non-coding transcript variant +1 more)
Atrophia bulborum hereditaria
GPathogenic
NDP, NDP-AS1
(Y44C)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
NDP, NDP-AS1
(V60E)
Single nucleotide variant
(non-coding transcript variant +1 more)
Atrophia bulborum hereditaria
GPathogenic
NDP, NDP-AS1
(S75C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Exudative vitreoretinopathy 2, X-linked
GLikely pathogenic
NDP, NDP-AS1
(R90P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
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