"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "GNPTG"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 317804	NM_032520.5(GNPTG):c.67G>C (p.Gly23Arg)	GNPTG, LOC130058158 (G23R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 559018	NM_032520.5(GNPTG):c.179-28C>G	GNPTG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 990358	NM_032520.5(GNPTG):c.203C>T (p.Ser68Leu)	GNPTG (S68L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 559019	NM_032520.5(GNPTG):c.204G>C (p.Ser68=)	GNPTG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 317881	NM_032520.5(GNPTG):c.255G>A (p.Pro85=)	GNPTG	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 559020	NM_032520.5(GNPTG):c.318-5C>A	GNPTG	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2138799	NM_032520.5(GNPTG):c.400C>T (p.Arg134Trp)	GNPTG (R134W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2159580	NM_032520.5(GNPTG):c.609G>A (p.Gln203=)	GNPTG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 317890	NM_032520.5(GNPTG):c.741+5C>T	GNPTG	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 21724	NM_032520.5(GNPTG):c.857C>T (p.Thr286Met)	GNPTG (T286M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance