ClinVar for MedGen (Select 41522) - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2676035	NM_000545.8(HNF1A):c.1609A>G (p.Thr537Ala)	HNF1A (T473A +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus type 1	GUncertain significance
Select item 2584620	NM_000525.4(KCNJ11):c.61C>A (p.Pro21Thr)	KCNJ11 (P21T)	Single nucleotide variant (missense variant +2 more)	Type 1 diabetes mellitus 20 +3 more	GUncertain significance
Select item 1695471	NM_000545.8(HNF1A):c.1610C>T (p.Thr537Met)	HNF1A (T537M)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +6 more	GUncertain significance
Select item 1694681	NM_000545.8(HNF1A):c.153C>T (p.Gly51=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +6 more	GLikely benign
Select item 1693221	NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu)	HNF1A (P519L)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1687085	NM_000545.8(HNF1A):c.1778G>C (p.Ser593Thr)	C12orf43, HNF1A (S593T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1687075	NM_000545.8(HNF1A):c.872C>T (p.Pro291Leu)	HNF1A (P291L)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1687067	NM_000545.8(HNF1A):c.1825C>T (p.His609Tyr)	C12orf43, HNF1A (H609Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1676684	NM_000545.8(HNF1A):c.140G>A (p.Gly47Glu)	HNF1A (G47E)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1591844	NM_000545.8(HNF1A):c.498C>T (p.Tyr166=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +6 more	GLikely benign
Select item 1591463	NM_000545.8(HNF1A):c.713+13G>A	HNF1A	Single nucleotide variant (intron variant)	not provided +6 more	GLikely benign
Select item 1541857	NM_000545.8(HNF1A):c.1071G>A (p.Glu357=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +6 more	GLikely benign
Select item 1471754	NM_000545.8(HNF1A):c.1136C>A (p.Pro379His)	HNF1A (P379H)	Single nucleotide variant (missense variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 1391729	NM_000545.8(HNF1A):c.1555C>T (p.Pro519Ser)	HNF1A (P519S)	Single nucleotide variant (missense variant)	Hepatic adenomas, familial +7 more	GUncertain significance
Select item 1390735	NM_000545.8(HNF1A):c.524A>G (p.Gln175Arg)	HNF1A (Q175R)	Single nucleotide variant (missense variant)	Hepatic adenomas, familial +6 more	GUncertain significance
Select item 1364938	NM_000545.8(HNF1A):c.884C>T (p.Pro295Leu)	HNF1A (P295L)	Single nucleotide variant (missense variant)	Hepatic adenomas, familial +6 more	GUncertain significance
Select item 1342947	NM_000545.8(HNF1A):c.-258A>G	HNF1A	Single nucleotide variant (genic upstream transcript variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1338671	NM_000545.8(HNF1A):c.865C>A (p.Pro289Thr)	HNF1A (P289T)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 1338461	NM_000545.8(HNF1A):c.236A>T (p.Glu79Val)	HNF1A (E79V)	Single nucleotide variant (missense variant)	Nonpapillary renal cell carcinoma +6 more	GUncertain significance
Select item 1338392	NM_000545.8(HNF1A):c.1159C>T (p.His387Tyr)	HNF1A (H387Y)	Single nucleotide variant (missense variant)	Nonpapillary renal cell carcinoma +6 more	GUncertain significance
Select item 1334146	NM_000545.8(HNF1A):c.871C>G (p.Pro291Ala)	HNF1A (P291A)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1334141	NM_000545.8(HNF1A):c.257T>A (p.Leu86His)	HNF1A (L86H)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1327613	NM_000545.8(HNF1A):c.1513C>A (p.His505Asn)	HNF1A (H505N)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1318621	NM_000545.8(HNF1A):c.1756G>A (p.Ala586Thr)	HNF1A (A586T +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1315612	NM_000545.8(HNF1A):c.865C>T (p.Pro289Ser)	HNF1A (P289S)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1179147	NM_000545.8(HNF1A):c.1310-2A>G	HNF1A	Single nucleotide variant (splice acceptor variant +1 more)	Nonpapillary renal cell carcinoma +5 more	GLikely pathogenic
Select item 1148460	NM_000545.8(HNF1A):c.1719_1720inv (p.Ser574Gly)	HNF1A (S574G +1 more)	Inversion (missense variant)	not provided +6 more	GLikely benign
Select item 1026109	NM_000545.8(HNF1A):c.1380_1406del (p.Gln460_Leu468del)	HNF1A	Deletion (inframe_deletion)	Maturity-onset diabetes of the young type 3 +5 more	GConflicting classifications of pathogenicity
Select item 1025247	NM_000545.8(HNF1A):c.780G>A (p.Thr260=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 3 +7 more	GConflicting classifications of pathogenicity
Select item 995306	NM_000545.8(HNF1A):c.125G>A (p.Gly42Asp)	HNF1A (G42D)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 994544	NM_000545.8(HNF1A):c.1706G>A (p.Ser569Asn)	HNF1A (S569N +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +7 more	GUncertain significance
Select item 994543	NM_000545.8(HNF1A):c.1699G>A (p.Val567Ile)	HNF1A (V567I +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +4 more	GUncertain significance
Select item 994542	NM_000545.8(HNF1A):c.1637A>C (p.Asp546Ala)	HNF1A (D546A +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +7 more	GUncertain significance/Uncertain risk allele
Select item 992538	NM_014009.4(FOXP3):c.102C>A (p.Asp34Glu)	FOXP3 (D34E)	Single nucleotide variant (missense variant)	Diabetes mellitus type 1 +1 more	GUncertain significance
Select item 972814	NM_000545.8(HNF1A):c.871C>A (p.Pro291Thr)	HNF1A (P291T)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 972767	NM_000545.8(HNF1A):c.1400C>T (p.Pro467Leu)	HNF1A (P467L)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +5 more	GUncertain significance
Select item 972763	NM_000545.8(HNF1A):c.962G>A (p.Arg321His)	HNF1A (R321H)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +6 more	GConflicting classifications of pathogenicity
Select item 972757	NM_000545.8(HNF1A):c.481G>A (p.Ala161Thr)	HNF1A (A161T)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 884166	NM_000545.8(HNF1A):c.499G>A (p.Val167Ile)	HNF1A (V167I)	Single nucleotide variant (missense variant)	Diabetes mellitus type 1 +6 more	GUncertain significance/Uncertain risk allele
Select item 882514	NM_000545.8(HNF1A):c.1727A>C (p.Gln576Pro)	HNF1A (Q583P +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus type 1 +6 more	GUncertain significance/Uncertain risk allele
Select item 882461	NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg)	HNF1A (G47R)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 805629	NM_000545.8(HNF1A):c.1322C>A (p.Thr441Lys)	HNF1A (T441K)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +7 more	GUncertain significance
Select item 730224	NM_000207.3(INS):c.67G>A (p.Ala23Thr)	INS, INS-IGF2 (A23T)	Single nucleotide variant (missense variant +1 more)	INS-IGF2-related condition +8 more	GConflicting classifications of pathogenicity
Select item 698851	NM_000545.8(HNF1A):c.685C>A (p.Arg229=)	HNF1A	Single nucleotide variant (synonymous variant)	Type 1 diabetes mellitus 20 +8 more	GConflicting classifications of pathogenicity
Select item 695861	NM_000545.8(HNF1A):c.1446C>T (p.Ser482=)	HNF1A	Single nucleotide variant (synonymous variant)	not specified +9 more	GBenign/Likely benign
Select item 695395	NM_000545.8(HNF1A):c.1108-4G>A	HNF1A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +7 more	GConflicting classifications of pathogenicity
Select item 667246	NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser)	HNF1A (T525S)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +8 more	GUncertain significance
Select item 586795	NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del)	HNF1A (E275del)	Microsatellite (inframe_deletion)	Type 1 diabetes mellitus 20 +7 more	GConflicting classifications of pathogenicity
Select item 562466	NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn)	HNF1A (D526N)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 447503	NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys)	HNF1A (R272C)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 447482	NM_000545.8(HNF1A):c.1386C>T (p.Val462=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign/Likely benign
Select item 435422	NM_000545.8(HNF1A):c.29C>T (p.Thr10Met)	HNF1A (T10M)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 435421	NM_000545.8(HNF1A):c.1541A>G (p.His514Arg)	HNF1A (H514R)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +7 more	GConflicting classifications of pathogenicity
Select item 435420	NM_000545.8(HNF1A):c.1501+6C>T	HNF1A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +8 more	GConflicting classifications of pathogenicity
Select item 431970	NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)	HNF1A (P379A)	Single nucleotide variant (missense variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 430837	NM_000545.8(HNF1A):c.1501+1G>A	HNF1A	Single nucleotide variant (splice donor variant +1 more)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 420064	NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter)	HNF1A (R229*)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 402948	NM_000545.8(HNF1A):c.923C>T (p.Pro308Leu)	HNF1A (P308L)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance/Uncertain risk allele
Select item 307461	NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser)	HNF1A (G339S)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +8 more	GLikely benign
Select item 304051	NM_000207.3(INS):c.*22A>C	INS, INS-IGF2 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +8 more	GConflicting classifications of pathogenicity
Select item 288582	NM_000545.8(HNF1A):c.-167TGGGGGT[3]	HNF1A	Microsatellite (5 prime UTR variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 268095	NM_014009.4(FOXP3):c.398C>T (p.Pro133Leu)	FOXP3 (P133L +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus type 1	GLikely pathogenic
Select item 267889	46;XX;inv(14)(q24.1q32.1)dn		Inversion	Cardiac arrhythmia +12 more	GUncertain significance
Select item 256599	NM_000545.8(HNF1A):c.326+6_326+10dup	HNF1A	Duplication (intron variant)	Diabetes mellitus type 1 +8 more	GBenign/Likely benign
Select item 256594	NM_000545.8(HNF1A):c.1377G>A (p.Leu459=)	HNF1A	Single nucleotide variant (synonymous variant)	Diabetes mellitus type 1 +8 more	GBenign/Likely benign
Select item 134508	NM_000545.8(HNF1A):c.341G>A (p.Arg114His)	HNF1A (R114H)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 129235	NM_000545.8(HNF1A):c.608G>A (p.Arg203His)	HNF1A (R203H)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 128688	NM_001807.6(CEL):c.1966G>C (p.Ala656Pro)	CEL (A656P)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 36827	NM_000545.8(HNF1A):c.713+14C>T	HNF1A	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +7 more	GConflicting classifications of pathogenicity
Select item 36810	NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly)	HNF1A (S581G +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 36805	NM_000545.8(HNF1A):c.1539C>T (p.Thr513=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 3 +6 more	GConflicting classifications of pathogenicity
Select item 36804	NM_000545.8(HNF1A):c.150C>T (p.Cys50=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 3 +7 more	GBenign/Likely benign
Select item 36800	NM_000545.8(HNF1A):c.1323G>A (p.Thr441=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 3 +8 more	GBenign/Likely benign
Select item 14948	NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)	HNF1A (G31D)	Single nucleotide variant (missense variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 14940	NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)	HNF1A (R583Q +1 more)	Single nucleotide variant (missense variant)	HNF1A-related condition +7 more	GConflicting classifications of pathogenicity
Select item 14928	NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu)	HNF1A (P447L)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 14927	NM_000545.8(HNF1A):c.872dup (p.Gly292fs)	HNF1A (G292fs)	Duplication (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 13392	NM_000207.3(INS):c.163C>T (p.Arg55Cys)	INS, INS-IGF2 (R55C)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes +2 more	GPathogenic/Likely pathogenic/Likely risk allele

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Items: 78