"HNF1A-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1327603	NM_000545.8(HNF1A):c.-218T>C	HNF1A	Single nucleotide variant (5 prime UTR variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1315708	NM_000545.8(HNF1A):c.-181G>A	HNF1A	Single nucleotide variant (5 prime UTR variant)	HNF1A-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1204628	NM_000545.8(HNF1A):c.-96T>G	HNF1A	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1203907	NM_000545.8(HNF1A):c.-89T>C	HNF1A	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 994546	NM_000545.8(HNF1A):c.26A>G (p.Gln9Arg)	HNF1A (Q9R)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 3030148	NM_000545.8(HNF1A):c.51C>T (p.Leu17=)	HNF1A	Single nucleotide variant (synonymous variant)	HNF1A-related disorder	GLikely benign
Select item 134503	NM_000545.8(HNF1A):c.155_156delinsCT (p.Gly52Ala)	HNF1A (G52A)	Indel (missense variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 696411	NM_000545.8(HNF1A):c.156C>T (p.Gly52=)	HNF1A	Single nucleotide variant (synonymous variant)	HNF1A-related disorder +2 more	GBenign/Likely benign
Select item 134505	NM_000545.8(HNF1A):c.225C>T (p.Asp75=)	HNF1A	Single nucleotide variant (synonymous variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 307457	NM_000545.8(HNF1A):c.264G>A (p.Glu88=)	HNF1A	Single nucleotide variant (synonymous variant)	HNF1A-related disorder +2 more	GBenign/Likely benign
Select item 3044217	NM_000545.8(HNF1A):c.291G>A (p.Ala97=)	HNF1A	Single nucleotide variant (synonymous variant)	HNF1A-related disorder	GLikely benign
Select item 307459	NM_000545.8(HNF1A):c.336G>A (p.Pro112=)	HNF1A	Single nucleotide variant (synonymous variant)	HNF1A-related disorder +4 more	GBenign/Likely benign
Select item 1338462	NM_000545.8(HNF1A):c.415C>T (p.Leu139Phe)	HNF1A (L139F)	Single nucleotide variant (missense variant)	HNF1A-related disorder +1 more	GUncertain significance
Select item 1327604	NM_000545.8(HNF1A):c.429C>G (p.His143Gln)	HNF1A (H143Q)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 586792	NM_000545.8(HNF1A):c.476G>A (p.Arg159Gln)	HNF1A (R159Q)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 2629699	NM_000545.8(HNF1A):c.506A>G (p.Lys169Arg)	HNF1A (K169R)	Single nucleotide variant (missense variant)	HNF1A-related disorder	GUncertain significance
Select item 3047647	NM_000545.8(HNF1A):c.527-6_527-3del	HNF1A	Deletion (intron variant)	HNF1A-related disorder	GLikely benign
Select item 586794	NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu)	HNF1A (A209E)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 379904	NM_000545.8(HNF1A):c.686G>A (p.Arg229Gln)	HNF1A (R229Q)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 3052987	NM_000545.8(HNF1A):c.694_696delinsGG (p.Leu232fs)	HNF1A (L232fs)	Indel (frameshift variant)	HNF1A-related disorder	GLikely pathogenic
Select item 1676710	NM_000545.8(HNF1A):c.710A>G (p.Asn237Ser)	HNF1A (N237S)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1327591	NM_000545.8(HNF1A):c.798C>G (p.Asn266Lys)	HNF1A (N266K)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 435424	NM_000545.8(HNF1A):c.864del (p.Pro291fs)	HNF1A (P291fs)	Deletion (frameshift variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 447505	NM_000545.8(HNF1A):c.871C>T (p.Pro291Ser)	HNF1A (P291S)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely benign FDA Recognized database
Select item 972813	NM_000545.8(HNF1A):c.932C>A (p.Ala311Asp)	HNF1A (A311D)	Single nucleotide variant (missense variant)	HNF1A-related disorder +1 more	GUncertain significance
Select item 2630662	NM_000545.8(HNF1A):c.943del (p.Ser315fs)	HNF1A (S315fs)	Deletion (frameshift variant)	HNF1A-related disorder	GPathogenic
Select item 2634375	NM_000545.8(HNF1A):c.1042C>T (p.Leu348Phe)	HNF1A (L348F)	Single nucleotide variant (missense variant)	HNF1A-related disorder	GUncertain significance
Select item 435426	NM_000545.8(HNF1A):c.1137del (p.Val380fs)	HNF1A (V380fs)	Deletion (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 3057319	NM_000545.8(HNF1A):c.1156C>T (p.Leu386=)	HNF1A	Single nucleotide variant (synonymous variant)	HNF1A-related disorder	GLikely benign
Select item 3030239	NM_000545.8(HNF1A):c.1302G>C (p.Leu434=)	HNF1A	Single nucleotide variant (synonymous variant)	HNF1A-related disorder	GLikely benign
Select item 3029871	NM_000545.8(HNF1A):c.1308C>T (p.Ile436=)	HNF1A	Single nucleotide variant (synonymous variant)	HNF1A-related disorder	GLikely benign
Select item 3061587	NM_000545.8(HNF1A):c.1335T>C (p.Ser445=)	HNF1A	Single nucleotide variant (synonymous variant +1 more)	HNF1A-related disorder	GLikely benign
Select item 3039133	NM_000545.8(HNF1A):c.1364_1368del (p.Ser455fs)	HNF1A (S455fs)	Deletion (frameshift variant +1 more)	HNF1A-related disorder	GPathogenic
Select item 3047074	NM_000545.8(HNF1A):c.1407C>T (p.His469=)	HNF1A	Single nucleotide variant (synonymous variant +1 more)	HNF1A-related disorder	GLikely benign
Select item 695861	NM_000545.8(HNF1A):c.1446C>T (p.Ser482=)	HNF1A	Single nucleotide variant (synonymous variant)	HNF1A-related disorder +9 more	GBenign/Likely benign
Select item 2979736	NM_000545.8(HNF1A):c.1497C>A (p.Pro499=)	HNF1A	Single nucleotide variant (synonymous variant +1 more)	HNF1A-related disorder +1 more	GLikely benign
Select item 586786	NM_000545.8(HNF1A):c.1500C>T (p.His500=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +3 more	GBenign/Likely benign
Select item 135665	NM_000545.8(HNF1A):c.1522G>A (p.Glu508Lys)	HNF1A (E508K)	Single nucleotide variant (missense variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 2038638	NM_000545.8(HNF1A):c.1602C>T (p.Ala534=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 882513	NM_000545.8(HNF1A):c.1695C>T (p.Leu565=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 586788	NM_000545.8(HNF1A):c.1704C>T (p.Pro568=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +2 more	GBenign/Likely benign
Select item 14939	NM_000545.8(HNF1A):c.1720= (p.Ser574=)	HNF1A	Single nucleotide variant (no sequence alteration)	not specified +2 more	GBenign/Likely benign
Select item 393435	NM_000545.8(HNF1A):c.1722C>A (p.Ser574Arg)	HNF1A (S581R +1 more)	Single nucleotide variant (missense variant)	HNF1A-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1779194	NM_000545.8(HNF1A):c.1740G>A (p.Pro580=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 14940	NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)	HNF1A (R583Q +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +7 more	GConflicting classifications of pathogenicity
Select item 2635466	NM_000545.8(HNF1A):c.1766_1767del (p.Thr589fs)	HNF1A (T525fs +2 more)	Microsatellite (frameshift variant)	HNF1A-related disorder	GPathogenic
Select item 3033231	NM_000545.8(HNF1A):c.1768+2T>G	HNF1A	Single nucleotide variant (splice donor variant)	HNF1A-related disorder	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 47