C0266267[trait identifier] AND "Clinical Genomics, Uppaluri K&H Person - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1801834	NM_000209.4(PDX1):c.77C>T (p.Pro26Leu)	PDX1 (P26L)	Single nucleotide variant (missense variant)	Pancreatic hypoplasia	GUncertain significance
Select item 1801836	NM_000209.4(PDX1):c.82T>G (p.Phe28Val)	PDX1 (F28V)	Single nucleotide variant (missense variant)	Pancreatic hypoplasia	GUncertain risk allele
Select item 1801837	NM_000209.4(PDX1):c.124C>T (p.Pro42Ser)	PDX1 (P42S)	Single nucleotide variant (missense variant)	Pancreatic hypoplasia	GUncertain risk allele
Select item 36404	NM_000209.4(PDX1):c.162G>A (p.Leu54=)	PDX1	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +4 more	GBenign/Likely benign
Select item 1801838	NM_000209.4(PDX1):c.274C>T (p.Leu92Phe)	PDX1 (L92F)	Single nucleotide variant (missense variant)	Pancreatic hypoplasia	GUncertain risk allele
Select item 1801839	NM_000209.4(PDX1):c.395G>A (p.Gly132Asp)	PDX1 (G132D)	Single nucleotide variant (missense variant)	Pancreatic hypoplasia	GUncertain risk allele
Select item 586036	NM_000209.4(PDX1):c.418G>A (p.Ala140Thr)	PDX1 (A140T)	Single nucleotide variant (missense variant)	Pancreatic hypoplasia +1 more	GConflicting classifications of pathogenicity
Select item 129881	NM_000209.4(PDX1):c.716C>A (p.Pro239Gln)	PDX1 (P239Q)	Single nucleotide variant (missense variant)	Pancreatic hypoplasia +5 more	GConflicting classifications of pathogenicity
Select item 36411	NM_000209.4(PDX1):c.725C>T (p.Pro242Leu)	PDX1 (P242L)	Single nucleotide variant (missense variant)	PDX1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 1801846	NM_000209.4(PDX1):c.800C>T (p.Ala267Val)	PDX1 (A267V)	Single nucleotide variant (missense variant)	Pancreatic hypoplasia	GUncertain significance