"Ambry Genetics"[submitter] AND "PDX1"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 385192	NM_000209.4(PDX1):c.6C>T (p.Asn2=)	PDX1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely 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 36414	NM_000209.4(PDX1):c.97C>A (p.Pro33Thr)	PDX1 (P33T)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 2434641	NM_000209.4(PDX1):c.128CGC[6] (p.Pro47_His48insPro)	PDX1	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 36404	NM_000209.4(PDX1):c.162G>A (p.Leu54=)	PDX1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 517723	NM_000209.4(PDX1):c.165C>A (p.Gly55=)	PDX1	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +2 more	GBenign/Likely benign
Select item 21124	NM_000209.4(PDX1):c.188del (p.Pro63fs)	PDX1 (P63fs)	Deletion (frameshift variant)	Type 2 diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 2453720	NM_000209.4(PDX1):c.190G>T (p.Asp64Tyr)	PDX1 (D64Y)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 1256398	NM_000209.4(PDX1):c.210G>T (p.Val70=)	PDX1	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GLikely benign
Select item 1787241	NM_000209.4(PDX1):c.217del (p.Leu73fs)	PDX1 (L73fs)	Deletion (frameshift variant)	not provided +1 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 disorder +5 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 of the young type 4 +5 more	GConflicting classifications of pathogenicity
Select item 1789551	NM_000209.4(PDX1):c.231C>T (p.Pro77=)	PDX1	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 1789991	NM_000209.4(PDX1):c.234G>T (p.Ala78=)	PDX1	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 1793494	NM_000209.4(PDX1):c.258C>T (p.Leu86=)	PDX1	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 1797268	NM_000209.4(PDX1):c.288C>G (p.Pro96=)	PDX1	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
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 283359	NM_000209.4(PDX1):c.336C>G (p.Pro112=)	PDX1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 3305614	NM_000209.4(PDX1):c.339C>T (p.Asn113=)	PDX1	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 3305612	NM_000209.4(PDX1):c.453G>A (p.Thr151=)	PDX1	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 3305613	NM_000209.4(PDX1):c.471G>A (p.Gln157=)	PDX1	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 1577228	NM_000209.4(PDX1):c.498A>G (p.Leu166=)	PDX1	Single nucleotide variant (synonymous variant)	Pancreatic agenesis 1 +4 more	GLikely benign
Select item 1967589	NM_000209.4(PDX1):c.528G>T (p.Arg176=)	PDX1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 36408	NM_000209.4(PDX1):c.543C>T (p.Val181=)	PDX1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 1755049	NM_000209.4(PDX1):c.671_672dup (p.Gln225fs)	PDX1 (Q225fs)	Duplication (frameshift variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 8863	NM_000209.4(PDX1):c.670G>A (p.Glu224Lys)	PDX1 (E224K)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1755376	NM_000209.4(PDX1):c.677A>C (p.Asp226Ala)	PDX1 (D226A)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 1979944	NM_000209.4(PDX1):c.693C>G (p.Ser231=)	PDX1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 716439	NM_000209.4(PDX1):c.693C>T (p.Ser231=)	PDX1	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +2 more	GBenign/Likely benign
Select item 1757091	NM_000209.4(PDX1):c.708G>C (p.Leu236=)	PDX1	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 36412	NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro)	PDX1	Microsatellite (inframe_insertion)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 129881	NM_000209.4(PDX1):c.716C>A (p.Pro239Gln)	PDX1 (P239Q)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 390803	NM_000209.4(PDX1):c.732C>G (p.Pro244=)	PDX1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1762269	NM_000209.4(PDX1):c.816C>T (p.Ser272=)	PDX1	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 1762663	NM_000209.4(PDX1):c.825G>C (p.Ala275=)	PDX1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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Items: 36