Related gene-specific medical variations for Gene (Select 256297) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2502253	NM_178161.3(PTF1A):c.673T>G (p.Leu225Val)	PTF1A (L225V)	Single nucleotide variant (missense variant)	Pancreatic agenesis 2 +1 more	GUncertain significance
Select item 1803846	NM_178161.3(PTF1A):c.987A>G (p.Ter329Trp)	PTF1A	Single nucleotide variant (stop lost)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome +1 more	GUncertain significance
Select item 1286213	NC_000010.11:g.23219800C>T	PTF1A, C10orf67	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257978	NC_000010.11:g.23219094G>A	C10orf67, PTF1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 444147	NC_000010.11:g.23233560C>T	C10orf67, PTF1A	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444145	NC_000010.11:g.23255343T>C	C10orf67, PTF1A	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444144	NC_000010.11:g.23283453A>C	C10orf67, PTF1A	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444142	NC_000010.11:g.23259604C>A	C10orf67, PTF1A	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444141	NC_000010.11:g.23290495G>A	C10orf67, PTF1A	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444140	NC_000010.11:g.23163713A>G	PTF1A	Single nucleotide variant	Type 2 diabetes mellitus	GBenign
Select item 444139	NC_000010.11:g.23167584A>C	PTF1A	Single nucleotide variant	Type 2 diabetes mellitus	GBenign
Select item 444138	NC_000010.11:g.23177805G>A	PTF1A	Single nucleotide variant	Type 2 diabetes mellitus	GBenign