ClinVar for MedGen (Select 863174) - ClinVar - NCBI

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Items: 13

	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)	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome +1 more	GUncertain significance
Select item 2429343	NM_001371909.1(C10orf67):c.1570+4090T>C	C10orf67, LINC01552	Single nucleotide variant (intron variant)	Pancreatic agenesis 2	GPathogenic
Select item 2179361	NM_178161.3(PTF1A):c.703_720del (p.Gly235_Gly240del)	PTF1A	Deletion (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 1803846	NM_178161.3(PTF1A):c.987A>G (p.Ter329Trp)	PTF1A	Single nucleotide variant (stop lost)	Pancreatic agenesis 2 +1 more	GUncertain significance
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 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 800794	NM_178161.3(PTF1A):c.571C>A (p.Pro191Thr)	PTF1A (P191T)	Single nucleotide variant (missense variant)	Kallikrein, decreased urinary activity of +1 more	GPathogenic/Likely pathogenic
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 299628	NM_178161.3(PTF1A):c.*15G>A	PTF1A	Single nucleotide variant (3 prime UTR variant)	Pancreatic agenesis 2 +2 more	GBenign
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 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 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 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