"GeneDx"[submitter] AND "PTF1A"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1283982	NC_000010.11:g.23192288A>G	PTF1A	Single nucleotide variant	not provided	GBenign
Select item 451673	NM_178161.3(PTF1A):c.44C>T (p.Ala15Val)	PTF1A (A15V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 265703	NM_178161.3(PTF1A):c.705del (p.Pro236fs)	PTF1A (P236fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1236546	NM_178161.3(PTF1A):c.784+120A>G	PTF1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295948	NM_178161.3(PTF1A):c.784+165_784+166del	PTF1A	Deletion (intron variant)	not provided	GBenign
Select item 1234986	NM_178161.3(PTF1A):c.784+166del	PTF1A	Deletion (intron variant)	not provided	GBenign
Select item 130055	NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro)	PTF1A (S263P)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 1307620	NM_178161.3(PTF1A):c.808G>C (p.Asp270His)	PTF1A (D270H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 299628	NM_178161.3(PTF1A):c.*15G>A	PTF1A	Single nucleotide variant (3 prime UTR variant)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome +2 more	GBenign
Select item 299631	NM_178161.3(PTF1A):c.*157GAT[1]	PTF1A	Microsatellite (3 prime UTR variant)	Permanent neonatal diabetes mellitus +1 more	GBenign/Likely benign
Select item 299632	NM_178161.3(PTF1A):c.*190C>T	PTF1A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 1257978	NC_000010.11:g.23219094G>A	C10orf67, PTF1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286213	NC_000010.11:g.23219800C>T	PTF1A, C10orf67	Single nucleotide variant (intron variant)	not provided	GBenign