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Links from MedGen

Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTF1A
(L225V)
Single nucleotide variant
(missense variant)
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
+1 more
GUncertain significance
PTF1A
Deletion
(inframe_deletion)
not provided
+2 more
GUncertain significance
PTF1A
Single nucleotide variant
(stop lost)
Pancreatic agenesis 2
+1 more
GUncertain significance
PTF1A
(A77T)
Single nucleotide variant
(missense variant)
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
+1 more
GLikely benign
PTF1A
Single nucleotide variant
(synonymous variant)
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
+1 more
GConflicting classifications of pathogenicity
PTF1A
(G39S)
Single nucleotide variant
(missense variant)
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
GUncertain significance
PTF1A
(A3V)
Single nucleotide variant
(missense variant)
Pancreatic agenesis 2
+2 more
GUncertain significance
PTF1A
Single nucleotide variant
(3 prime UTR variant)
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
GUncertain significance
PTF1A
Single nucleotide variant
(3 prime UTR variant)
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
GUncertain significance
PTF1A
Single nucleotide variant
(3 prime UTR variant)
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
GUncertain significance
PTF1A
Single nucleotide variant
(synonymous variant)
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
+1 more
GConflicting classifications of pathogenicity
PTF1A
(A149V)
Single nucleotide variant
(missense variant)
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
+2 more
GUncertain significance
PTF1A
(C121Y)
Single nucleotide variant
(missense variant)
Pancreatic agenesis 2
+1 more
GUncertain significance
PTF1A
(S114L)
Single nucleotide variant
(missense variant)
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
GUncertain significance
PTF1A
(P191T)
Single nucleotide variant
(missense variant)
Kallikrein, decreased urinary activity of
+1 more
GPathogenic/Likely pathogenic
PTF1A
(L89I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
PTF1A
(A15V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PTF1A
(A167T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PTF1A
Single nucleotide variant
(3 prime UTR variant)
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
GUncertain significance
PTF1A
Single nucleotide variant
(3 prime UTR variant)
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
GUncertain significance
PTF1A
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
PTF1A
Single nucleotide variant
(3 prime UTR variant)
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
GUncertain significance
PTF1A
Single nucleotide variant
(3 prime UTR variant)
Pancreatic agenesis 2
+2 more
GBenign
PTF1A
(N320K)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+1 more
GUncertain significance
PTF1A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PTF1A
(R206L)
Single nucleotide variant
(missense variant)
Pancreatic agenesis 2
+1 more
GUncertain significance
PTF1A
(A129V)
Single nucleotide variant
(missense variant)
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
+2 more
GBenign/Likely benign
PTF1A
(G88D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PTF1A
Single nucleotide variant
(synonymous variant)
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
+2 more
GConflicting classifications of pathogenicity
PTF1A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
PTF1A
(S263P)
Single nucleotide variant
(missense variant)
Pancreatic beta cell agenesis with neonatal diabetes mellitus
+4 more
GConflicting classifications of pathogenicity
PTF1A
(G90A)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+4 more
GConflicting classifications of pathogenicity
PTF1A
Deletion
(inframe_indel)
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
GPathogenic
PTF1A
(P236fs)
Duplication
(frameshift variant)
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
GPathogenic
PTF1A
(R296*)
Single nucleotide variant
(nonsense)
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
GPathogenic
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