ClinVar for MedGen (Select 856095) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1749138	NM_000209.4(PDX1):c.569T>C (p.Ile190Thr)	PDX1 (I190T)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +1 more	GUncertain significance
Select item 1577228	NM_000209.4(PDX1):c.498A>G (p.Leu166=)	PDX1	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +5 more	GLikely benign
Select item 1415209	NM_000209.4(PDX1):c.98C>A (p.Pro33His)	PDX1 (P33H)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +3 more	GUncertain significance
Select item 1409937	NM_000209.4(PDX1):c.841G>C (p.Glu281Gln)	PDX1 (E281Q)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +3 more	GUncertain significance
Select item 1408111	NM_000209.4(PDX1):c.296C>A (p.Pro99His)	PDX1 (P99H)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +3 more	GUncertain significance
Select item 1043044	NM_000209.4(PDX1):c.211C>A (p.Pro71Thr)	PDX1 (P71T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 917442	NM_000209.4(PDX1):c.208G>A (p.Val70Met)	PDX1 (V70M)	Single nucleotide variant (missense variant)	Monogenic diabetes +3 more	GUncertain significance
Select item 586037	NM_000209.4(PDX1):c.8G>C (p.Gly3Ala)	PDX1 (G3A)	Single nucleotide variant (missense variant)	Pancreatic hypoplasia +4 more	GUncertain significance
Select item 449080	NM_000209.4(PDX1):c.820G>T (p.Val274Phe)	PDX1 (V274F)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 447926	NM_000209.4(PDX1):c.719C>G (p.Pro240Arg)	PDX1 (P240R)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 447925	NM_000209.4(PDX1):c.312C>T (p.Ala104=)	PDX1	Single nucleotide variant (synonymous variant)	Pancreatic agenesis 1 +5 more	GLikely benign
Select item 436282	NM_000209.4(PDX1):c.502A>C (p.Asn168His)	PDX1 (N168H)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 4 +1 more	GLikely pathogenic
Select item 36405	NM_000209.4(PDX1):c.216C>T (p.Pro72=)	PDX1	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 30124	NM_000209.4(PDX1):c.533A>G (p.Glu178Gly)	PDX1 (E178G)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +1 more	GPathogenic
Select item 21124	NM_000209.4(PDX1):c.188del (p.Pro63fs)	PDX1 (P63fs)	Deletion (frameshift variant)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 8865	NM_000209.4(PDX1):c.532G>A (p.Glu178Lys)	PDX1 (E178K)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1	GPathogenic
Select item 8864	NM_000209.4(PDX1):c.492G>T (p.Glu164Asp)	PDX1 (E164D)	Single nucleotide variant (missense variant)	Diabetes mellitus type 2, susceptibility to +1 more	GPathogenic; risk factor
Select item 8862	NM_000209.4(PDX1):c.52T>C (p.Cys18Arg)	PDX1 (C18R)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +3 more	GUncertain significance