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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDP, NDP-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GBenign
NDP, NDP-AS1
(C128*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Atrophia bulborum hereditaria
+1 more
GPathogenic
NDP, NDP-AS1
(Y122C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NDP, NDP-AS1
(R109*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GPathogenic
NDP, NDP-AS1
(F89S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NDP, NDP-AS1
(R74C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Atrophia bulborum hereditaria
+1 more
GPathogenic
NDP, NDP-AS1
(L52*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
NDP, NDP-AS1
(R37*)
Single nucleotide variant
(nonsense)
Atrophia bulborum hereditaria
+1 more
GPathogenic/Likely pathogenic
NDP, NDP-AS1
(D23E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign
NDP, NDP-AS1
(H4L)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
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