"Myriad Genetics, Inc."[submitter] AND "GNPTG"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1725799	NM_032520.5(GNPTG):c.37_38delinsT (p.Gly13fs)	GNPTG, LOC130058158 (G13fs)	Indel (frameshift variant)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 1725961	NM_032520.5(GNPTG):c.88_90delinsTT (p.Val30fs)	GNPTG, LOC130058158 (V30fs)	Indel (frameshift variant)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 1726441	NM_032520.5(GNPTG):c.216_217del (p.Phe72fs)	GNPTG (F72fs)	Deletion (frameshift variant)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 552294	NM_032520.5(GNPTG):c.233+1G>A	GNPTG	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1726675	NM_032520.5(GNPTG):c.237C>A (p.Tyr79Ter)	GNPTG (Y79*)	Single nucleotide variant (nonsense)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 1724640	NM_032520.5(GNPTG):c.238A>T (p.Lys80Ter)	GNPTG (K80*)	Single nucleotide variant (nonsense)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 550212	NM_032520.5(GNPTG):c.238_243del (p.Lys80_Tyr81del)	GNPTG	Deletion (inframe_deletion)	GNPTG-mucolipidosis +1 more	GConflicting classifications of pathogenicity
Select item 1725183	NM_032520.5(GNPTG):c.599_600insG (p.Ile200fs)	GNPTG (I200fs)	Insertion (frameshift variant)	GNPTG-mucolipidosis	GLikely pathogenic
Select item 1725822	NM_032520.5(GNPTG):c.691G>T (p.Glu231Ter)	GNPTG (E231*)	Single nucleotide variant (nonsense)	GNPTG-mucolipidosis	GLikely pathogenic