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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNPTG
(R66*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
GNPTG
(G106S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GNPTG
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
GNPTG
(W111*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GNPTG
(N116del)
Microsatellite
(inframe_deletion)
not provided
+2 more
GPathogenic/Likely pathogenic
GNPTG
(D127fs)
Deletion
(frameshift variant)
GNPTG-mucolipidosis
Gnot provided
GNPTG
(A149fs)
Deletion
(frameshift variant)
GNPTG-mucolipidosis
GPathogenic
GNPTG
(L175fs)
Duplication
(frameshift variant)
GNPTG-mucolipidosis
Gnot provided
GNPTG
(Q203fs)
Insertion
(frameshift variant)
GNPTG-mucolipidosis
Gnot provided
GNPTG
Deletion
(intron variant)
GNPTG-mucolipidosis
GPathogenic
GNPTG
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
GNPTG
Single nucleotide variant
(splice acceptor variant)
GNPTG-mucolipidosis
GPathogenic
GNPTG
Deletion
GNPTG-mucolipidosis
GPathogenic
GNPTG
(K207fs)
Insertion
(frameshift variant)
GNPTG-mucolipidosis
Gnot provided
GNPTG
(F213fs)
Deletion
(frameshift variant)
GNPTG-mucolipidosis
GPathogenic
GNPTG
(E214fs)
Deletion
(frameshift variant)
GNPTG-mucolipidosis
GPathogenic
GNPTG
(T286M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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