"Fulgent Genetics, Fulgent Genetics"[submitter] AND "GNPTG"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 989917	NM_032520.5(GNPTG):c.-10C>A	GNPTG, LOC130058158	Single nucleotide variant (5 prime UTR variant)	GNPTG-mucolipidosis	GUncertain significance
Select item 550565	NM_032520.5(GNPTG):c.7G>A (p.Ala3Thr)	GNPTG, LOC130058158 (A3T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 555879	NM_032520.5(GNPTG):c.234-1G>A	GNPTG	Single nucleotide variant (splice acceptor variant)	GNPTG-mucolipidosis +1 more	GPathogenic/Likely pathogenic
Select item 1005964	NM_032520.5(GNPTG):c.276C>G (p.His92Gln)	GNPTG (H92Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2799	NM_032520.5(GNPTG):c.316G>A (p.Gly106Ser)	GNPTG (G106S)	Single nucleotide variant (missense variant)	GNPTG-mucolipidosis +1 more	GPathogenic/Likely pathogenic
Select item 1165418	NM_032520.5(GNPTG):c.318-18G>A	GNPTG	Single nucleotide variant (intron variant)	GNPTG-mucolipidosis +1 more	GBenign/Likely benign
Select item 21715	NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del)	GNPTG (N116del)	Microsatellite (inframe_deletion)	GNPTG-mucolipidosis +2 more	GPathogenic/Likely pathogenic
Select item 317895	NM_032520.5(GNPTG):c.887G>A (p.Arg296Gln)	GNPTG (R296Q)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity

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