"GeneDx"[submitter] AND "PDX1"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 145957	GRCh38/hg38 13q12.13-12.3(chr13:26965244-30097858)x3	CDX2, FLT1 +123 more	Copy number gain	See cases	GLikely pathogenic
Select item 1232517	NC_000013.11:g.27919720T>G	PDX1	Single nucleotide variant	not provided	GBenign
Select item 669733	NM_000209.3(PDX1):c.-279G>A	PDX1	Single nucleotide variant	not provided	GBenign
Select item 1179450	NM_000209.4(PDX1):c.-106del	PDX1	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 1219299	NM_000209.4(PDX1):c.-86G>T	PDX1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 422562	NM_000209.4(PDX1):c.-50CTCCCGG[3]	PDX1	Microsatellite (5 prime UTR variant)	not specified	GLikely benign
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 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 8862	NM_000209.4(PDX1):c.52T>C (p.Cys18Arg)	PDX1 (C18R)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +3 more	GUncertain significance
Select item 1256412	NM_000209.4(PDX1):c.97C>G (p.Pro33Ala)	PDX1 (P33A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 1702571	NM_000209.4(PDX1):c.134C>G (p.Pro45Arg)	PDX1 (P45R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 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 2442632	NM_000209.4(PDX1):c.284C>A (p.Pro95Gln)	PDX1 (P95Q)	Single nucleotide variant (missense variant)	not provided	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 3363952	NM_000209.4(PDX1):c.300C>G (p.Phe100Leu)	PDX1 (F100L)	Single nucleotide variant (missense variant)	not provided	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 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 3364833	NM_000209.4(PDX1):c.349C>G (p.Leu117Val)	PDX1 (L117V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 683833	NM_000209.4(PDX1):c.406+268C>G	PDX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669787	NM_000209.4(PDX1):c.407-291G>A	PDX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276703	NM_000209.4(PDX1):c.407-128C>G	PDX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673552	NM_000209.4(PDX1):c.407-70G>C	PDX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673553	NM_000209.4(PDX1):c.407-68G>T	PDX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 586036	NM_000209.4(PDX1):c.418G>A (p.Ala140Thr)	PDX1 (A140T)	Single nucleotide variant (missense variant)	not provided +1 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	GUncertain significance
Select item 1303849	NM_000209.4(PDX1):c.485A>C (p.Glu162Ala)	PDX1 (E162A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1708924	NM_000209.4(PDX1):c.664G>A (p.Glu222Lys)	PDX1 (E222K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1304109	NM_000209.4(PDX1):c.681C>A (p.Cys227Ter)	PDX1 (C227*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 2504962	NM_000209.4(PDX1):c.694_697delinsAGCT (p.Gly232_Glu233delinsSerTer)	PDX1	Indel (nonsense)	not provided	GUncertain significance
Select item 2578231	NM_000209.4(PDX1):c.707del (p.Leu236fs)	PDX1 (L236fs)	Deletion (frameshift variant)	not provided	GUncertain significance
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 3373071	NM_000209.4(PDX1):c.718C>T (p.Pro240Ser)	PDX1 (P240S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 36411	NM_000209.4(PDX1):c.725C>T (p.Pro242Leu)	PDX1 (P242L)	Single nucleotide variant (missense variant)	Pancreatic hypoplasia +3 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 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 668654	NM_000209.4(PDX1):c.848G>A (p.Arg283Gln)	PDX1 (R283Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

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Items: 49