"Genetic Services Laboratory, University of Chicago"[submitter] AND "H - ClinVar

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

Search results

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1337204	NR_184036.1(R3HDML-AS1):n.22T>A	HNF4A, R3HDML-AS1	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 435430	NR_184036.1(R3HDML-AS1):n.3A>G	HNF4A, R3HDML-AS1	Single nucleotide variant (non-coding transcript variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1336599	NM_175914.4(HNF4A):c.-426C>G	HNF4A	Single nucleotide variant	not specified	GUncertain significance
Select item 435431	NM_175914.4(HNF4A):c.-401G>A	HNF4A	Single nucleotide variant	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1336763	NM_175914.4(HNF4A):c.-378T>A	HNF4A	Single nucleotide variant	not specified	GUncertain significance
Select item 435432	NM_175914.4(HNF4A):c.-278G>A	HNF4A	Single nucleotide variant	not specified +2 more	GBenign/Likely benign
Select item 435433	NM_175914.4(HNF4A):c.-276G>T	HNF4A	Single nucleotide variant	not specified	GBenign
Select item 1336901	NM_175914.4(HNF4A):c.-197G>A	HNF4A	Single nucleotide variant	not specified	GUncertain significance
Select item 1337271	NM_175914.4(HNF4A):c.-171A>G	HNF4A	Single nucleotide variant	not specified	GUncertain significance
Select item 1198303	NM_175914.4(HNF4A):c.-129T>C	HNF4A	Single nucleotide variant	not specified +1 more	GLikely benign
Select item 435434	NM_175914.5(HNF4A):c.-83C>T	HNF4A	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GUncertain significance/Uncertain risk allele
Select item 1337587	NM_175914.5(HNF4A):c.-46C>A	HNF4A	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1336871	NM_175914.5(HNF4A):c.-44C>T	HNF4A	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1337492	NM_175914.5(HNF4A):c.-18G>A	HNF4A	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 129239	NM_175914.5(HNF4A):c.50-5C>T	HNF4A	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 36347	NM_175914.5(HNF4A):c.84G>A (p.Ala28=)	HNF4A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 129238	NM_175914.5(HNF4A):c.135C>T (p.Ala45=)	HNF4A	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 1 +4 more	GBenign
Select item 156152	NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp)	HNF4A (R60W +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 435436	NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln)	HNF4A (R64Q +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 804913	NM_175914.5(HNF4A):c.224+1G>A	HNF4A	Single nucleotide variant (splice donor variant)	Maturity onset diabetes mellitus in young +1 more	GPathogenic/Likely pathogenic
Select item 1338399	NM_175914.5(HNF4A):c.225-1G>C	HNF4A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1338363	NM_175914.5(HNF4A):c.241G>A (p.Val81Met)	HNF4A (V103M +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1338424	NM_175914.5(HNF4A):c.325C>T (p.Gln109Ter)	HNF4A (Q106* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 427034	NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln)	HNF4A (R109Q +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 9212	NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)	HNF4A (R114W +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 129240	NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile)	HNF4A (T114I +3 more)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 36350	NM_175914.5(HNF4A):c.381G>A (p.Leu127=)	HNF4A	Single nucleotide variant (synonymous variant)	Familial hyperinsulinism +4 more	GConflicting classifications of pathogenicity
Select item 450787	NM_175914.5(HNF4A):c.403C>T (p.Gln135Ter)	HNF4A (Q132* +3 more)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 36352	NM_175914.5(HNF4A):c.426+6G>A	HNF4A	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 1 +3 more	GConflicting classifications of pathogenicity
Select item 211146	NM_175914.5(HNF4A):c.427-5C>T	HNF4A	Single nucleotide variant (intron variant)	Monogenic diabetes	GLikely benign FDA Recognized database
Select item 447517	NM_175914.5(HNF4A):c.427-4G>A	HNF4A	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 36353	NM_175914.5(HNF4A):c.439G>A (p.Val147Ile)	HNF4A (V147I +3 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1338343	NM_175914.5(HNF4A):c.445G>A (p.Gly149Arg)	HNF4A (G146R +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 435437	NM_175914.5(HNF4A):c.470AGA[1] (p.Lys158del)	HNF4A (K155del +3 more)	Microsatellite (inframe_deletion)	Maturity-onset diabetes of the young type 1 +1 more	GConflicting classifications of pathogenicity
Select item 488999	NM_175914.5(HNF4A):c.514C>T (p.Gln172Ter)	HNF4A (Q169* +3 more)	Single nucleotide variant (nonsense)	Maturity onset diabetes mellitus in young +1 more	GPathogenic
Select item 2443143	NM_175914.5(HNF4A):c.527T>C (p.Leu176Pro)	HNF4A (L173P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1698544	NM_175914.5(HNF4A):c.569C>T (p.Pro190Leu)	HNF4A (P187L +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2443144	NM_175914.5(HNF4A):c.604G>A (p.Ala202Thr)	HNF4A (A199T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1338628	NM_175914.5(HNF4A):c.614A>C (p.His205Pro)	HNF4A (H202P +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1338308	NM_175914.5(HNF4A):c.617T>A (p.Leu206Gln)	HNF4A (L203Q +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 36357	NM_175914.5(HNF4A):c.669A>G (p.Leu223=)	HNF4A	Single nucleotide variant (synonymous variant)	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young +6 more	GBenign/Likely benign
Select item 1186689	NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp)	HNF4A (R228W +3 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 36358	NM_175914.5(HNF4A):c.696C>T (p.His232=)	HNF4A	Single nucleotide variant (synonymous variant)	Familial hyperinsulinism +4 more	GBenign/Likely benign
Select item 338427	NM_175914.5(HNF4A):c.726G>A (p.Val242=)	HNF4A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +3 more	GConflicting classifications of pathogenicity
Select item 435438	NM_175914.5(HNF4A):c.740T>C (p.Leu247Pro)	HNF4A (L244P +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1338451	NM_175914.5(HNF4A):c.742G>T (p.Asp248Tyr)	HNF4A (D245Y +3 more)	Single nucleotide variant (missense variant)	HNF4A-related disorder +1 more	GUncertain significance
Select item 36359	NM_175914.5(HNF4A):c.744C>T (p.Asp248=)	HNF4A	Single nucleotide variant (synonymous variant)	Familial hyperinsulinism +6 more	GBenign/Likely benign
Select item 804918	NM_175914.5(HNF4A):c.869G>A (p.Arg290His)	HNF4A (R312H +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 435435	NM_175914.5(HNF4A):c.906C>T (p.Asn302=)	HNF4A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GLikely benign
Select item 36364	NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys)	HNF4A (R309C +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 2018786	NM_175914.5(HNF4A):c.932G>T (p.Arg311Leu)	HNF4A (R333L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 435439	NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup)	HNF4A	Microsatellite (inframe_insertion)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 744325	NM_175914.5(HNF4A):c.999C>T (p.Ile333=)	HNF4A	Single nucleotide variant (synonymous variant)	HNF4A-related disorder +5 more	GBenign/Likely benign
Select item 1337905	NM_175914.5(HNF4A):c.1081C>T (p.Pro361Ser)	HNF4A (P358S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1338590	NM_175914.5(HNF4A):c.1144G>A (p.Val382Ile)	HNF4A (V379I +3 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +3 more	GUncertain significance
Select item 435440	NM_175914.5(HNF4A):c.1177G>A (p.Gly393Arg)	HNF4A (G390R +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 1338475	NM_175914.5(HNF4A):c.1229C>A (p.Thr410Asn)	HNF4A (T397N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 211145	NM_175914.5(HNF4A):c.1243C>T (p.Pro415Ser)	HNF4A (P412S +6 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1 +4 more	GConflicting classifications of pathogenicity
Select item 129237	NM_175914.5(HNF4A):c.1267C>T (p.Pro423Ser)	HNF4A (P420S +6 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 1337790	NM_175914.5(HNF4A):c.1270T>C (p.Tyr424His)	HNF4A (Y411H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336989	NM_175914.5(HNF4A):c.1303G>A (p.Val435Ile)	HNF4A (V422I +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 36345	NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val)	HNF4A (I431V +6 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GBenign FDA Recognized database

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: 62