"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "PPT1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 204600	NM_000310.4(PPT1):c.*6G>A	PPT1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 199009	NM_000310.4(PPT1):c.904A>G (p.Ile302Val)	PPT1 (I302V +2 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 130023	NM_000310.4(PPT1):c.837G>C (p.Gln279His)	PPT1 (Q279H +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 138792	NM_000310.4(PPT1):c.799-19A>C	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1 +1 more	GBenign/Likely benign
Select item 297245	NM_000310.4(PPT1):c.676G>A (p.Val226Met)	PPT1 (V226M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 56211	NM_000310.4(PPT1):c.674T>C (p.Phe225Ser)	PPT1 (F122S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 56202	NM_000310.4(PPT1):c.541G>T (p.Val181Leu)	PPT1 (V181L +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1 +3 more	GPathogenic/Likely pathogenic
Select item 558948	NM_000310.4(PPT1):c.536+25T>C	PPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 8904	NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)	PPT1 (R151* +1 more)	Single nucleotide variant (nonsense)	PPT1-related disorder +5 more	GPathogenic/Likely pathogenic
Select item 130022	NM_000310.4(PPT1):c.401T>C (p.Ile134Thr)	PPT1 (I134T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 8899	NM_000310.4(PPT1):c.364A>T (p.Arg122Trp)	PPT1 (R122W)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 1 +2 more	GPathogenic
Select item 130021	NM_000310.4(PPT1):c.363-4G>A	PPT1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 138799	NM_000310.4(PPT1):c.363-18C>G	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1 +1 more	GBenign
Select item 56183	NM_000310.4(PPT1):c.175del (p.Glu59fs)	PPT1 (E59fs)	Deletion (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 1 +1 more	GPathogenic
Select item 138801	NM_000310.4(PPT1):c.124+18T>G	LOC129930245, PPT1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign