ClinVar for MedGen (Select 854723) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 172

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233564	NM_001089.3(ABCA3):c.4090G>A (p.Glu1364Lys)	ABCA3 (E1364K)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency +2 more	GLikely pathogenic
Select item 3233553	NM_000352.6(ABCC8):c.4432G>C (p.Gly1478Arg)	ABCC8 (G1477R +3 more)	Single nucleotide variant (missense variant +1 more)	Familial hyperinsulinism	GPathogenic
Select item 3233511	NC_000011.9:g.(17453792_17464266)_(17464860_17470062)del	ABCC8	Deletion	Familial hyperinsulinism	GPathogenic
Select item 2506148	NM_000162.5(GCK):c.1354G>C (p.Val452Leu)	GCK (V115L +5 more)	Single nucleotide variant (missense variant)	Familial hyperinsulinism	GLikely pathogenic
Select item 2501069	NM_000352.6(ABCC8):c.580-2A>G	ABCC8	Single nucleotide variant (splice acceptor variant)	Familial hyperinsulinism	GLikely pathogenic
Select item 2137020	NM_000352.6(ABCC8):c.19G>C (p.Gly7Arg)	ABCC8 (G7R)	Single nucleotide variant (missense variant +1 more)	Familial hyperinsulinism +3 more	GLikely pathogenic
Select item 1878337	NM_000352.6(ABCC8):c.1630+1G>A	ABCC8	Single nucleotide variant (splice donor variant)	Hyperinsulinemic hypoglycemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 1687413	NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg)	ABCC8 (G315R +1 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, transient neonatal, 2 +5 more	GConflicting classifications of pathogenicity
Select item 1526017	NM_000352.6(ABCC8):c.1330C>T (p.Gln444Ter)	ABCC8 (Q443* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 1459964	NM_000352.6(ABCC8):c.502C>T (p.Arg168Cys)	ABCC8 (R168C)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 1338676	NM_000352.6(ABCC8):c.805del (p.Ala269fs)	ABCC8 (A269fs)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus +3 more	GPathogenic/Likely pathogenic
Select item 1338491	NM_000352.6(ABCC8):c.76T>A (p.Cys26Ser)	ABCC8 (C26S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1098777	NM_000352.6(ABCC8):c.4288del (p.Leu1430fs)	ABCC8 (L1429fs +3 more)	Deletion (frameshift variant +1 more)	Familial hyperinsulinism +1 more	GPathogenic/Likely pathogenic
Select item 1069205	NM_000352.6(ABCC8):c.1617T>A (p.Tyr539Ter)	ABCC8 (Y538* +1 more)	Single nucleotide variant (nonsense +1 more)	Neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 996301	NM_000352.6(ABCC8):c.2521C>T (p.Arg841Ter)	ABCC8 (R840* +3 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 962983	NM_000352.6(ABCC8):c.2117-2A>T	ABCC8	Single nucleotide variant (splice acceptor variant)	Type 2 diabetes mellitus +4 more	GPathogenic
Select item 942720	NM_000352.6(ABCC8):c.35C>A (p.Ser12Ter)	ABCC8 (S12*)	Single nucleotide variant (nonsense +1 more)	Familial hyperinsulinism +1 more	GPathogenic
Select item 899353	NM_175914.5(HNF4A):c.*35C>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 1 +2 more	GConflicting classifications of pathogenicity
Select item 899352	NM_175914.5(HNF4A):c.*7G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +1 more	GBenign
Select item 899288	NM_175914.5(HNF4A):c.582+12C>T	HNF4A	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 899287	NM_175914.5(HNF4A):c.562G>A (p.Glu188Lys)	HNF4A (E210K +3 more)	Single nucleotide variant (missense variant)	Familial hyperinsulinism +4 more	GUncertain significance/Uncertain risk allele
Select item 898527	NM_175914.5(HNF4A):c.*2511A>G	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 1 +2 more	GConflicting classifications of pathogenicity
Select item 898453	NM_175914.5(HNF4A):c.*1809C>G	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 1 +2 more	GConflicting classifications of pathogenicity
Select item 898305	NM_175914.5(HNF4A):c.*427G>T	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GBenign/Likely benign
Select item 898237	NM_175914.5(HNF4A):c.1290C>T (p.Ala430=)	HNF4A	Single nucleotide variant (synonymous variant)	Familial hyperinsulinism +1 more	GUncertain significance
Select item 897432	NM_175914.5(HNF4A):c.*3052G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +2 more	GConflicting classifications of pathogenicity
Select item 897369	NM_175914.5(HNF4A):c.*2297C>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +2 more	GConflicting classifications of pathogenicity
Select item 897368	NM_175914.5(HNF4A):c.*2256C>G	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +2 more	GBenign/Likely benign
Select item 897283	NM_175914.5(HNF4A):c.*1395C>T	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +2 more	GConflicting classifications of pathogenicity
Select item 897282	NM_175914.5(HNF4A):c.*1364G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 897281	NM_175914.5(HNF4A):c.*1363C>T	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 897280	NM_175914.5(HNF4A):c.*1293C>T	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 897218	NM_175914.5(HNF4A):c.*867G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 897217	NM_175914.5(HNF4A):c.*785G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +2 more	GBenign/Likely benign
Select item 896939	NM_175914.5(HNF4A):c.*2786C>T	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +2 more	GBenign/Likely benign
Select item 896938	NM_175914.5(HNF4A):c.*2782A>C	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +2 more	GConflicting classifications of pathogenicity
Select item 896868	NM_175914.5(HNF4A):c.*2006T>C	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +2 more	GUncertain significance
Select item 896801	NM_175914.5(HNF4A):c.*1127T>C	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +3 more	GConflicting classifications of pathogenicity
Select item 896743	NM_175914.5(HNF4A):c.*764C>T	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +2 more	GConflicting classifications of pathogenicity
Select item 896689	NM_175914.5(HNF4A):c.*217C>T	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +2 more	GConflicting classifications of pathogenicity
Select item 896688	NM_175914.5(HNF4A):c.*168G>T	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +2 more	GConflicting classifications of pathogenicity
Select item 896610	NM_175914.5(HNF4A):c.1020C>G (p.Gly340=)	HNF4A	Single nucleotide variant (synonymous variant)	Familial hyperinsulinism +2 more	GConflicting classifications of pathogenicity
Select item 895537	NM_175914.5(HNF4A):c.*2761G>C	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +1 more	GUncertain significance
Select item 895536	NM_175914.5(HNF4A):c.*2656G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GBenign/Likely benign
Select item 895468	NM_175914.5(HNF4A):c.*1975G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 895467	NM_175914.5(HNF4A):c.*1826G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 895405	NM_175914.5(HNF4A):c.*1013G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 895404	NM_175914.5(HNF4A):c.*993G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GUncertain significance
Select item 895326	NM_175914.5(HNF4A):c.*657G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 895325	NM_175914.5(HNF4A):c.*568G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +2 more	GBenign/Likely benign
Select item 895324	NM_175914.5(HNF4A):c.*547G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 895252	NM_175914.5(HNF4A):c.*76G>T	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +1 more	GBenign/Likely benign
Select item 895197	NM_175914.5(HNF4A):c.723G>C (p.Arg241=)	HNF4A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 895123	NM_175914.5(HNF4A):c.50-4630T>C	HNF4A (L19P)	Single nucleotide variant (missense variant +2 more)	Maturity onset diabetes mellitus in young +2 more	GUncertain significance/Uncertain risk allele
Select item 749281	NM_175914.5(HNF4A):c.582+4A>G	HNF4A	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 633028	NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)	ABCC8 (W898* +3 more)	Single nucleotide variant (nonsense +1 more)	Familial hyperinsulinism +4 more	GPathogenic/Likely pathogenic
Select item 633027	NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter)	ABCC8 (W232*)	Single nucleotide variant (nonsense +1 more)	Maturity onset diabetes mellitus in young +5 more	GConflicting classifications of pathogenicity
Select item 633026	NM_000352.6(ABCC8):c.1176+2T>C	ABCC8	Single nucleotide variant (splice donor variant)	Familial hyperinsulinism +4 more	GPathogenic
Select item 632619	NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln)	ABCC8 (R1214Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 632373	NM_175914.5(HNF4A):c.863G>A (p.Arg288Gln)	HNF4A (R285Q +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 587515	NM_000352.6(ABCC8):c.4051G>A (p.Val1351Met)	ABCC8 (V1351M +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +4 more	GUncertain significance
Select item 587475	NM_000352.6(ABCC8):c.3346C>G (p.Pro1116Ala)	ABCC8 (P1116A +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 558304	NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys)	ABCC8 (E501K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 555287	NM_000352.6(ABCC8):c.579+2T>A	ABCC8	Single nucleotide variant (splice donor variant)	Familial hyperinsulinism +4 more	GConflicting classifications of pathogenicity
Select item 553752	NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys)	ABCC8 (R526C +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hyperinsulinism +6 more	GPathogenic/Likely pathogenic
Select item 552779	NM_000352.6(ABCC8):c.2222+1G>T	ABCC8	Single nucleotide variant (splice donor variant)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 551999	NM_000352.6(ABCC8):c.4412-13G>A	ABCC8	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +3 more	GPathogenic/Likely pathogenic
Select item 551373	NM_000525.4(KCNJ11):c.119G>A (p.Gly40Asp)	KCNJ11 (G40D)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +6 more	GConflicting classifications of pathogenicity
Select item 550226	NM_000352.6(ABCC8):c.3448_3449del (p.Val1150fs)	ABCC8 (V1150fs +3 more)	Microsatellite (frameshift variant +1 more)	Transitory neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 510584	NM_175914.5(HNF4A):c.624C>T (p.Leu208=)	HNF4A	Single nucleotide variant (synonymous variant)	Familial hyperinsulinism +4 more	GConflicting classifications of pathogenicity
Select item 510279	NM_175914.5(HNF4A):c.138G>A (p.Thr46=)	HNF4A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +5 more	GBenign/Likely benign
Select item 495835	NM_000352.6(ABCC8):c.62T>A (p.Val21Asp)	ABCC8 (V21D)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +7 more	GPathogenic/Likely pathogenic
Select item 495834	NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)	ABCC8 (R74Q)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +6 more	GPathogenic
Select item 493321	NM_175914.5(HNF4A):c.481A>G (p.Ser161Gly)	HNF4A (S158G +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 446765	NM_000352.6(ABCC8):c.1634del (p.Phe545fs)	ABCC8 (F544fs +1 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus +6 more	GConflicting classifications of pathogenicity
Select item 435556	NM_000525.4(KCNJ11):c.868G>A (p.Val290Met)	KCNJ11 (V290M +1 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia, familial, 2 +3 more	GConflicting classifications of pathogenicity
Select item 434056	NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter)	ABCC8 (R598* +1 more)	Single nucleotide variant (nonsense +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +7 more	GPathogenic
Select item 434055	NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter)	ABCC8 (M429* +1 more)	Duplication (nonsense +1 more)	Type 2 diabetes mellitus +6 more	GPathogenic
Select item 371626	NM_000352.6(ABCC8):c.2695-1G>C	ABCC8	Single nucleotide variant (splice acceptor variant)	Familial hyperinsulinism +4 more	GConflicting classifications of pathogenicity
Select item 371380	NM_000352.6(ABCC8):c.220C>T (p.Arg74Trp)	ABCC8 (R74W)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 371346	NM_000352.6(ABCC8):c.584dup (p.Tyr195Ter)	ABCC8 (Y195*)	Duplication (nonsense +1 more)	Transitory neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 370935	NM_000352.6(ABCC8):c.3400-1G>A	ABCC8	Single nucleotide variant (splice acceptor variant)	Familial hyperinsulinism +3 more	GPathogenic/Likely pathogenic
Select item 370464	NM_000352.6(ABCC8):c.1671+1G>C	ABCC8	Single nucleotide variant (splice donor variant)	Familial hyperinsulinism +4 more	GConflicting classifications of pathogenicity
Select item 370210	NM_000352.6(ABCC8):c.3574del (p.Asp1192fs)	ABCC8 (D1192fs +3 more)	Deletion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +6 more	GPathogenic/Likely pathogenic
Select item 370163	NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter)	ABCC8 (R1250* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 338499	NM_175914.5(HNF4A):c.*3153C>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 338498	NM_175914.5(HNF4A):c.*3143G>T	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GBenign/Likely benign
Select item 338496	NM_175914.5(HNF4A):c.*3120T>C	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 338495	NM_175914.5(HNF4A):c.*3104A>C	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 338494	NM_175914.5(HNF4A):c.*3086C>T	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 1 +3 more	GConflicting classifications of pathogenicity
Select item 338493	NM_175914.5(HNF4A):c.*3068C>T	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 338492	NM_175914.5(HNF4A):c.*3024C>T	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 338491	NM_175914.5(HNF4A):c.*3018G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 338490	NM_175914.5(HNF4A):c.*3013A>G	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 338489	NM_175914.5(HNF4A):c.*2992C>T	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 338487	NM_175914.5(HNF4A):c.*2779A>C	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +2 more	GConflicting classifications of pathogenicity
Select item 338474	NM_175914.5(HNF4A):c.*2639T>G	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 338472	NM_175914.5(HNF4A):c.*2558T>C	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 338471	NM_175914.5(HNF4A):c.*2533G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GBenign
Select item 338470	NM_175914.5(HNF4A):c.*2374G>C	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2