ClinVar for OMIM (Select 606392) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2580179	NM_000209.4(PDX1):c.363G>T (p.Trp121Cys)	PDX1 (W121C)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 4	GUncertain significance
Select item 2505338	NM_000209.4(PDX1):c.735dup (p.Gly246fs)	PDX1 (G246fs)	Duplication (frameshift variant)	Maturity-onset diabetes of the young type 4	GLikely pathogenic
Select item 1723209	NM_000209.4(PDX1):c.593G>T (p.Arg198Leu)	PDX1 (R198L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1678768	NM_000209.4(PDX1):c.164G>A (p.Gly55Asp)	PDX1 (G55D)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 4 +1 more	GConflicting classifications of pathogenicity
Select item 1675329	NM_000209.4(PDX1):c.769C>T (p.Arg257Ter)	PDX1 (R257*)	Single nucleotide variant (nonsense)	Maturity-onset diabetes of the young type 4	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 1515252	NM_000209.4(PDX1):c.107T>G (p.Leu36Arg)	PDX1 (L36R)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 4 +2 more	GUncertain significance
Select item 1440161	NM_000209.4(PDX1):c.651del (p.Gly218fs)	PDX1 (G218fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1415209	NM_000209.4(PDX1):c.98C>A (p.Pro33His)	PDX1 (P33H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1409937	NM_000209.4(PDX1):c.841G>C (p.Glu281Gln)	PDX1 (E281Q)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +3 more	GUncertain significance
Select item 1408111	NM_000209.4(PDX1):c.296C>A (p.Pro99His)	PDX1 (P99H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1339118	NM_000209.4(PDX1):c.282C>G (p.His94Gln)	PDX1 (H94Q)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 4	GUncertain significance
Select item 1256412	NM_000209.4(PDX1):c.97C>G (p.Pro33Ala)	PDX1 (P33A)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1043044	NM_000209.4(PDX1):c.211C>A (p.Pro71Thr)	PDX1 (P71T)	Single nucleotide variant (missense variant)	PDX1-related condition +5 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 provided +4 more	GUncertain significance
Select item 447926	NM_000209.4(PDX1):c.719C>G (p.Pro240Arg)	PDX1 (P240R)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +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 447924	NM_000209.4(PDX1):c.28G>A (p.Ala10Thr)	PDX1 (A10T)	Single nucleotide variant (missense variant)	Monogenic diabetes +4 more	GUncertain significance
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 129881	NM_000209.4(PDX1):c.716C>A (p.Pro239Gln)	PDX1 (P239Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 36414	NM_000209.4(PDX1):c.97C>A (p.Pro33Thr)	PDX1 (P33T)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 4 +5 more	GConflicting classifications of pathogenicity
Select item 36413	NM_000209.4(PDX1):c.773A>G (p.Glu258Gly)	PDX1 (E258G)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 4	GLikely pathogenic
Select item 36412	NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro)	PDX1	Microsatellite (inframe_insertion)	Maturity onset diabetes mellitus in young +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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 36409	NM_000209.4(PDX1):c.571A>C (p.Lys191Gln)	PDX1 (K191Q)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 4	GLikely pathogenic
Select item 36408	NM_000209.4(PDX1):c.543C>T (p.Val181=)	PDX1	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 4 +3 more	GConflicting classifications of pathogenicity
Select item 36407	NM_000209.4(PDX1):c.442C>G (p.Arg148Gly)	PDX1 (R148G)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 4	GLikely pathogenic
Select item 36406	NM_000209.4(PDX1):c.318G>T (p.Pro106=)	PDX1	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 4	GLikely benign
Select item 36405	NM_000209.4(PDX1):c.216C>T (p.Pro72=)	PDX1	Single nucleotide variant (synonymous variant)	Pancreatic agenesis 1 +4 more	GLikely benign
Select item 36404	NM_000209.4(PDX1):c.162G>A (p.Leu54=)	PDX1	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 4 +4 more	GBenign/Likely benign
Select item 36403	NM_000209.4(PDX1):c.-50CTCCCGG[5]	PDX1	Microsatellite (5 prime UTR variant)	Maturity-onset diabetes of the young type 4	GUncertain significance
Select item 36402	NM_000209.4(PDX1):c.-18C>T	PDX1	Single nucleotide variant (5 prime UTR variant)	Maturity-onset diabetes of the young type 4 +1 more	GConflicting classifications of pathogenicity
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 8863	NM_000209.4(PDX1):c.670G>A (p.Glu224Lys)	PDX1 (E224K)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +5 more	GConflicting classifications of pathogenicity
Select item 8862	NM_000209.4(PDX1):c.52T>C (p.Cys18Arg)	PDX1 (C18R)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 4 +3 more	GUncertain significance
Select item 8859	NM_000209.4(PDX1):c.226G>A (p.Asp76Asn)	PDX1 (D76N)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +5 more	GConflicting classifications of pathogenicity

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Links from OMIM

Items: 39