3651[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ABCC4, ABHD13 +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009615, LOC130009616 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009928, LOC130009929 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009333, LOC130009334 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC130009474, LOC130009475 +489 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LINC00397, LINC00398 +2040 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009358, LOC130009359 +416 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009990, LOC130009991 +2028 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LINC00366, LINC00367 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	LOC130009318, LOC130009319 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC126861755, LOC126861756 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 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 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 422562	NM_000209.4(PDX1):c.-50CTCCCGG[3]	PDX1	Microsatellite (5 prime UTR variant)	not specified	GLikely benign
Select item 3030289	NM_000209.4(PDX1):c.-35_-22del	PDX1	Deletion (5 prime UTR variant)	PDX1-related disorder	GUncertain significance
Select item 3053922	NM_000209.4(PDX1):c.-25C>T	PDX1	Single nucleotide variant (5 prime UTR variant)	PDX1-related disorder	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 +2 more	GBenign/Likely benign
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 447924	NM_000209.4(PDX1):c.28G>A (p.Ala10Thr)	PDX1 (A10T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1483616	NM_000209.4(PDX1):c.47A>T (p.Asp16Val)	PDX1 (D16V)	Single nucleotide variant (missense variant)	not provided	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 1954509	NM_000209.4(PDX1):c.57G>C (p.Ala19=)	PDX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796932	NM_000209.4(PDX1):c.62A>T (p.Gln21Leu)	PDX1 (Q21L)	Single nucleotide variant (missense variant)	not provided	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 3575830	NM_000209.4(PDX1):c.84C>G (p.Phe28Leu)	PDX1 (F28L)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +2 more	GUncertain significance
Select item 2171868	NM_000209.4(PDX1):c.92G>A (p.Ser31Asn)	PDX1 (S31N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3654512	NM_000209.4(PDX1):c.95C>G (p.Pro32Arg)	PDX1 (P32R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1898245	NM_000209.4(PDX1):c.97C>T (p.Pro33Ser)	PDX1 (P33S)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +4 more	GUncertain significance
Select item 1256412	NM_000209.4(PDX1):c.97C>G (p.Pro33Ala)	PDX1 (P33A)	Single nucleotide variant (missense variant)	not provided +4 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 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 755324	NM_000209.4(PDX1):c.99T>C (p.Pro33=)	PDX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1336622	NM_000209.4(PDX1):c.101C>T (p.Ala34Val)	PDX1 (A34V)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +4 more	GUncertain significance
Select item 1807293	NM_000209.4(PDX1):c.102G>A (p.Ala34=)	PDX1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 804927	NM_000209.4(PDX1):c.110A>T (p.Tyr37Phe)	PDX1 (Y37F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2906816	NM_000209.4(PDX1):c.112A>T (p.Met38Leu)	PDX1 (M38L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945488	NM_000209.4(PDX1):c.117C>T (p.Gly39=)	PDX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3575832	NM_000209.4(PDX1):c.124C>A (p.Pro42Thr)	PDX1 (P42T)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +2 more	GUncertain significance
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 2434641	NM_000209.4(PDX1):c.128CGC[6] (p.Pro47_His48insPro)	PDX1	Microsatellite (inframe_insertion)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 917444	NM_000209.4(PDX1):c.127_128insGCCG (p.Pro43fs)	PDX1 (P43fs)	Insertion (frameshift variant)	Monogenic diabetes	GUncertain significance
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 2776315	NM_000209.4(PDX1):c.140C>T (p.Pro47Leu)	PDX1 (P47L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3666947	NM_000209.4(PDX1):c.141_142delinsTT (p.His48Tyr)	PDX1 (H48Y)	Indel (missense variant)	not provided	GUncertain significance
Select item 3575833	NM_000209.4(PDX1):c.146C>G (p.Pro49Arg)	PDX1 (P49R)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +3 more	GUncertain significance
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 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 3058041	NM_000209.4(PDX1):c.165C>T (p.Gly55=)	PDX1	Single nucleotide variant (synonymous variant)	PDX1-related disorder	GLikely 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 2874489	NM_000209.4(PDX1):c.175C>A (p.Gln59Lys)	PDX1 (Q59K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 8860	NM_000209.4(PDX1):c.176A>T (p.Gln59Leu)	PDX1 (Q59L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3630014	NM_000209.4(PDX1):c.177G>A (p.Gln59=)	PDX1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 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 3575834	NM_000209.4(PDX1):c.184C>A (p.Pro62Thr)	PDX1 (P62T)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +2 more	GUncertain significance
Select item 2086897	NM_000209.4(PDX1):c.184C>T (p.Pro62Ser)	PDX1 (P62S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3575835	NM_000209.4(PDX1):c.190G>A (p.Asp64Asn)	PDX1 (D64N)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +2 more	GUncertain significance
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 1400792	NM_000209.4(PDX1):c.191A>G (p.Asp64Gly)	PDX1 (D64G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2630765	NM_000209.4(PDX1):c.206A>G (p.Glu69Gly)	PDX1 (E69G)	Single nucleotide variant (missense variant)	PDX1-related disorder	GUncertain significance
Select item 917442	NM_000209.4(PDX1):c.208G>A (p.Val70Met)	PDX1 (V70M)	Single nucleotide variant (missense variant)	Pancreatic agenesis 1 +3 more	GUncertain significance
Select item 1256398	NM_000209.4(PDX1):c.210G>T (p.Val70=)	PDX1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 586034	NM_000209.4(PDX1):c.217dup (p.Leu73fs)	PDX1 (L73fs)	Duplication (frameshift variant)	Familial Monogenic Diabetes (Maturity Onset Diabetes Of The Young 4)/Neonatal Diabetes Mellitus +1 more	GConflicting classifications of pathogenicity
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)	not provided +5 more	GConflicting classifications of pathogenicity
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 2977668	NM_000209.4(PDX1):c.217C>G (p.Leu73Val)	PDX1 (L73V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 8859	NM_000209.4(PDX1):c.226G>A (p.Asp76Asn)	PDX1 (D76N)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1928906	NM_000209.4(PDX1):c.229C>T (p.Pro77Ser)	PDX1 (P77S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 1498849	NM_000209.4(PDX1):c.239C>T (p.Ala80Val)	PDX1 (A80V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3609358	NM_000209.4(PDX1):c.247C>T (p.His83Tyr)	PDX1 (H83Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 586035	NM_000209.4(PDX1):c.259C>G (p.Pro87Ala)	PDX1 (P87A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3710671	NM_000209.4(PDX1):c.261G>C (p.Pro87=)	PDX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3575836	NM_000209.4(PDX1):c.272C>T (p.Ala91Val)	PDX1 (A91V)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +2 more	GUncertain significance
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 1807292	NM_000209.4(PDX1):c.279C>T (p.Pro93=)	PDX1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3575837	NM_000209.4(PDX1):c.280C>T (p.His94Tyr)	PDX1 (H94Y)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +2 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 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 211894	NM_000209.4(PDX1):c.285G>A (p.Pro95=)	PDX1	Single nucleotide variant (synonymous variant)	not specified	GConflicting classifications of pathogenicity
Select item 3575838	NM_000209.4(PDX1):c.286C>G (p.Pro96Ala)	PDX1 (P96A)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +2 more	GUncertain significance
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 3768863	NM_000209.4(PDX1):c.295C>T (p.Pro99Ser)	PDX1 (P99S)	Single nucleotide variant (missense variant)	not specified	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 3363952	NM_000209.4(PDX1):c.300C>G (p.Phe100Leu)	PDX1 (F100L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3033038	NM_000209.4(PDX1):c.300C>T (p.Phe100=)	PDX1	Single nucleotide variant (synonymous variant)	PDX1-related disorder	GLikely benign

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