ClinVar for MedGen (Select 318863) - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3575861	NM_000209.4(PDX1):c.776del (p.Gly259fs)	PDX1 (G259fs)	Deletion (frameshift variant)	Pancreatic agenesis 1 +2 more	GUncertain significance
Select item 3575860	NM_000209.4(PDX1):c.766G>T (p.Ala256Ser)	PDX1 (A256S)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +2 more	GUncertain significance
Select item 3575859	NM_000209.4(PDX1):c.729_731delinsGCCCCG (p.Pro244_Gly245insArg)	PDX1	Indel	Pancreatic agenesis 1 +2 more	GUncertain significance
Select item 3575857	NM_000209.4(PDX1):c.732dup (p.Gly245fs)	PDX1 (G245fs)	Duplication (frameshift variant)	Pancreatic agenesis 1 +2 more	GUncertain significance
Select item 3575856	NM_000209.4(PDX1):c.722del (p.Pro241fs)	PDX1 (P241fs)	Deletion (frameshift variant)	Pancreatic agenesis 1 +2 more	GUncertain significance
Select item 3575855	NM_000209.4(PDX1):c.716C>T (p.Pro239Leu)	PDX1 (P239L)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +2 more	GUncertain significance
Select item 3575854	NM_000209.4(PDX1):c.697G>A (p.Glu233Lys)	PDX1 (E233K)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +2 more	GUncertain significance
Select item 3575853	NM_000209.4(PDX1):c.667C>T (p.Pro223Ser)	PDX1 (P223S)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +2 more	GUncertain significance
Select item 3575852	NM_000209.4(PDX1):c.563G>C (p.Arg188Thr)	PDX1 (R188T)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +2 more	GUncertain significance
Select item 3575851	NM_000209.4(PDX1):c.546G>A (p.Met182Ile)	PDX1 (M182I)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +2 more	GUncertain significance
Select item 3575850	NM_000209.4(PDX1):c.545T>C (p.Met182Thr)	PDX1 (M182T)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +2 more	GUncertain significance
Select item 3575848	NM_000209.4(PDX1):c.506A>G (p.Lys169Arg)	PDX1 (K169R)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +2 more	GUncertain significance
Select item 3575847	NM_000209.4(PDX1):c.422C>A (p.Ala141Glu)	PDX1 (A141E)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +2 more	GUncertain significance
Select item 3575846	NM_000209.4(PDX1):c.413C>T (p.Ala138Val)	PDX1 (A138V)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +2 more	GUncertain significance
Select item 3575845	NM_000209.4(PDX1):c.411C>T (p.Gly137=)	PDX1	Single nucleotide variant (synonymous variant)	Pancreatic agenesis 1 +2 more	GUncertain significance
Select item 3575844	NM_000209.4(PDX1):c.394G>A (p.Gly132Ser)	PDX1 (G132S)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +2 more	GUncertain significance
Select item 3575843	NM_000209.4(PDX1):c.390G>T (p.Trp130Cys)	PDX1 (W130C)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +2 more	GUncertain significance
Select item 3575842	NM_000209.4(PDX1):c.384C>G (p.His128Gln)	PDX1 (H128Q)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +2 more	GUncertain significance
Select item 3575841	NM_000209.4(PDX1):c.338A>G (p.Asn113Ser)	PDX1 (N113S)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +2 more	GUncertain significance
Select item 3575840	NM_000209.4(PDX1):c.307G>A (p.Gly103Arg)	PDX1 (G103R)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +2 more	GUncertain significance
Select item 3575838	NM_000209.4(PDX1):c.286C>G (p.Pro96Ala)	PDX1 (P96A)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +2 more	GUncertain significance
Select item 3575837	NM_000209.4(PDX1):c.280C>T (p.His94Tyr)	PDX1 (H94Y)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +2 more	GUncertain significance
Select item 3575836	NM_000209.4(PDX1):c.272C>T (p.Ala91Val)	PDX1 (A91V)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +2 more	GUncertain significance
Select item 3575835	NM_000209.4(PDX1):c.190G>A (p.Asp64Asn)	PDX1 (D64N)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +2 more	GUncertain significance
Select item 3575834	NM_000209.4(PDX1):c.184C>A (p.Pro62Thr)	PDX1 (P62T)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +2 more	GUncertain significance
Select item 3575833	NM_000209.4(PDX1):c.146C>G (p.Pro49Arg)	PDX1 (P49R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3575832	NM_000209.4(PDX1):c.124C>A (p.Pro42Thr)	PDX1 (P42T)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +2 more	GUncertain significance
Select item 3575830	NM_000209.4(PDX1):c.84C>G (p.Phe28Leu)	PDX1 (F28L)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +2 more	GUncertain significance
Select item 3383339	NM_000209.4(PDX1):c.178G>T (p.Gly60Cys)	PDX1 (G60C)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 4	GUncertain significance
Select item 3383115	NM_000209.4(PDX1):c.433G>A (p.Glu145Lys)	PDX1 (E145K)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +2 more	GUncertain significance
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 2442632	NM_000209.4(PDX1):c.284C>A (p.Pro95Gln)	PDX1 (P95Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2171868	NM_000209.4(PDX1):c.92G>A (p.Ser31Asn)	PDX1 (S31N)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 4 +3 more	GUncertain significance
Select item 1898245	NM_000209.4(PDX1):c.97C>T (p.Pro33Ser)	PDX1 (P33S)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 4 +4 more	GUncertain significance
Select item 1755049	NM_000209.4(PDX1):c.671_672dup (p.Gln225fs)	PDX1 (Q225fs)	Duplication (frameshift variant)	Maturity-onset diabetes of the young type 4 +3 more	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 1708924	NM_000209.4(PDX1):c.664G>A (p.Glu222Lys)	PDX1 (E222K)	Single nucleotide variant (missense variant)	not provided +3 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)	Pancreatic agenesis 1 +4 more	GLikely benign
Select item 1515252	NM_000209.4(PDX1):c.107T>G (p.Leu36Arg)	PDX1 (L36R)	Single nucleotide variant (missense variant)	not provided +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)	Maturity-onset diabetes of the young type 4 +3 more	GUncertain significance
Select item 1409937	NM_000209.4(PDX1):c.841G>C (p.Glu281Gln)	PDX1 (E281Q)	Single nucleotide variant (missense variant)	not provided +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 1336622	NM_000209.4(PDX1):c.101C>T (p.Ala34Val)	PDX1 (A34V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1256412	NM_000209.4(PDX1):c.97C>G (p.Pro33Ala)	PDX1 (P33A)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +4 more	GConflicting classifications of pathogenicity
Select item 1200171	NM_000209.4(PDX1):c.463C>A (p.Arg155Ser)	PDX1 (R155S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1043044	NM_000209.4(PDX1):c.211C>A (p.Pro71Thr)	PDX1 (P71T)	Single nucleotide variant (missense variant)	PDX1-related disorder +5 more	GConflicting classifications of pathogenicity
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)	Maturity-onset diabetes of the young type 4 +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)	PDX1-related disorder +6 more	GUncertain significance
Select item 447925	NM_000209.4(PDX1):c.312C>T (p.Ala104=)	PDX1	Single nucleotide variant (synonymous variant)	not specified +5 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 436282	NM_000209.4(PDX1):c.502A>C (p.Asn168His)	PDX1 (N168H)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +1 more	GLikely pathogenic
Select item 129881	NM_000209.4(PDX1):c.716C>A (p.Pro239Gln)	PDX1 (P239Q)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 4 +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 mellitus in young +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 +2 more	GConflicting classifications of pathogenicity
Select item 36412	NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro)	PDX1	Microsatellite (inframe_insertion)	Monogenic diabetes +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)	Maturity-onset diabetes of the young type 4 +3 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)	Neonatal diabetes mellitus +4 more	GLikely benign
Select item 36404	NM_000209.4(PDX1):c.162G>A (p.Leu54=)	PDX1	Single nucleotide variant (synonymous variant)	Pancreatic hypoplasia +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)	not provided +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)	not provided +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 of the young type 4 +5 more	GBenign/Likely benign

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Items: 76