"Illumina Laboratory Services, Illumina"[submitter] AND "PTF1A"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 880486	NM_178161.3(PTF1A):c.8C>T (p.Ala3Val)	PTF1A (A3V)	Single nucleotide variant (missense variant)	Pancreatic agenesis 2 +2 more	GUncertain significance
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 299621	NM_178161.3(PTF1A):c.102C>T (p.Asp34=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 880487	NM_178161.3(PTF1A):c.115G>A (p.Gly39Ser)	PTF1A (G39S)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	GUncertain significance
Select item 299622	NM_178161.3(PTF1A):c.162C>T (p.Ser54=)	PTF1A	Single nucleotide variant (synonymous variant)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 880488	NM_178161.3(PTF1A):c.201C>T (p.Cys67=)	PTF1A	Single nucleotide variant (synonymous variant)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 880489	NM_178161.3(PTF1A):c.229G>A (p.Ala77Thr)	PTF1A (A77T)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome +1 more	GLikely benign
Select item 299623	NM_178161.3(PTF1A):c.263G>A (p.Gly88Asp)	PTF1A (G88D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 549537	NM_178161.3(PTF1A):c.265C>A (p.Leu89Ile)	PTF1A (L89I)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome +3 more	GUncertain significance
Select item 130054	NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala)	PTF1A (G90A)	Single nucleotide variant (missense variant)	Monogenic diabetes +4 more	GConflicting classifications of pathogenicity
Select item 877718	NM_178161.3(PTF1A):c.341C>T (p.Ser114Leu)	PTF1A (S114L)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	GUncertain significance
Select item 877719	NM_178161.3(PTF1A):c.362G>A (p.Cys121Tyr)	PTF1A (C121Y)	Single nucleotide variant (missense variant)	Pancreatic agenesis 2 +1 more	GUncertain significance
Select item 299624	NM_178161.3(PTF1A):c.386C>T (p.Ala129Val)	PTF1A (A129V)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome +2 more	GBenign/Likely benign
Select item 877720	NM_178161.3(PTF1A):c.446C>T (p.Ala149Val)	PTF1A (A149V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 877721	NM_178161.3(PTF1A):c.462G>T (p.Arg154=)	PTF1A	Single nucleotide variant (synonymous variant)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 436444	NM_178161.3(PTF1A):c.499G>A (p.Ala167Thr)	PTF1A (A167T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 299625	NM_178161.3(PTF1A):c.617G>T (p.Arg206Leu)	PTF1A (R206L)	Single nucleotide variant (missense variant)	Pancreatic agenesis 2 +1 more	GUncertain significance
Select item 299626	NM_178161.3(PTF1A):c.654C>A (p.Leu218=)	PTF1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 130055	NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro)	PTF1A (S263P)	Single nucleotide variant (missense variant)	Pancreatic beta cell agenesis with neonatal diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 299627	NM_178161.3(PTF1A):c.960C>A (p.Asn320Lys)	PTF1A (N320K)	Single nucleotide variant (missense variant)	Monogenic diabetes +1 more	GUncertain significance
Select item 299628	NM_178161.3(PTF1A):c.*15G>A	PTF1A	Single nucleotide variant (3 prime UTR variant)	Pancreatic agenesis 2 +2 more	GBenign
Select item 299629	NM_178161.3(PTF1A):c.*117A>G	PTF1A	Single nucleotide variant (3 prime UTR variant)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	GUncertain significance
Select item 299630	NM_178161.3(PTF1A):c.126_129del	PTF1A	Deletion (3 prime UTR variant)	Permanent neonatal diabetes mellitus	GUncertain significance
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 299633	NM_178161.3(PTF1A):c.*265A>G	PTF1A	Single nucleotide variant (3 prime UTR variant)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	GUncertain significance
Select item 879345	NM_178161.3(PTF1A):c.*272G>A	PTF1A	Single nucleotide variant (3 prime UTR variant)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	GUncertain significance
Select item 879346	NM_178161.3(PTF1A):c.*283T>C	PTF1A	Single nucleotide variant (3 prime UTR variant)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	GUncertain significance
Select item 299634	NM_178161.3(PTF1A):c.*306C>G	PTF1A	Single nucleotide variant (3 prime UTR variant)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	GUncertain significance
Select item 879347	NM_178161.3(PTF1A):c.*316T>C	PTF1A	Single nucleotide variant (3 prime UTR variant)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	GUncertain significance

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Items: 30