ClinVar for MedGen (Select 87433) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3526037	NM_000458.4(HNF1B):c.621A>G (p.Pro207=)	HNF1B, LOC126862549	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 3526036	NM_000458.4(HNF1B):c.618T>C (p.Phe206=)	HNF1B, LOC126862549	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 3526035	NM_000458.4(HNF1B):c.936G>A (p.Lys312=)	HNF1B	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 3519370	NM_000162.5(GCK):c.996G>A (p.Thr332=)	GCK	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 3519369	NM_000162.5(GCK):c.942G>A (p.Leu314=)	GCK	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 3519368	NM_000162.5(GCK):c.237G>A (p.Leu79=)	GCK	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 3519367	NM_000162.5(GCK):c.951C>T (p.His317=)	GCK	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 3416695	NM_000209.4(PDX1):c.442C>A (p.Arg148=)	PDX1	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 3336431	NM_000545.8(HNF1A):c.838A>T (p.Lys280Ter)	HNF1A (K280*)	Single nucleotide variant (nonsense)	Maturity onset diabetes mellitus in young	GPathogenic
Select item 3305614	NM_000209.4(PDX1):c.339C>T (p.Asn113=)	PDX1	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 3305613	NM_000209.4(PDX1):c.471G>A (p.Gln157=)	PDX1	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 3305612	NM_000209.4(PDX1):c.453G>A (p.Thr151=)	PDX1	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 3284533	NM_000458.4(HNF1B):c.1014del (p.Gln338fs)	HNF1B (Q338fs +1 more)	Deletion (frameshift variant)	Maturity onset diabetes mellitus in young	GPathogenic
Select item 3284532	NM_000458.4(HNF1B):c.165G>A (p.Glu55=)	HNF1B	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 3284531	NM_000545.8(HNF1A):c.918C>T (p.Gly306=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 3281010	NM_000162.5(GCK):c.1155G>A (p.Gly385=)	GCK	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 3232045	NM_000545.8(HNF1A):c.292G>A (p.Ala98Thr)	HNF1A (A98T)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 3232044	NM_000545.8(HNF1A):c.286G>A (p.Glu96Lys)	HNF1A (E96K)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 3231754	NM_000458.4(HNF1B):c.300C>G (p.Thr100=)	HNF1B	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 3230480	NM_000162.5(GCK):c.905del (p.Val302fs)	GCK (V301fs +2 more)	Deletion (frameshift variant +1 more)	Maturity onset diabetes mellitus in young	GPathogenic
Select item 3230479	NM_000162.5(GCK):c.818A>G (p.Tyr273Cys)	GCK (Y272C +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 3230478	NM_000162.5(GCK):c.814G>T (p.Glu272Ter)	GCK (E271* +2 more)	Single nucleotide variant (nonsense)	Maturity onset diabetes mellitus in young	GPathogenic
Select item 3230477	NM_000162.5(GCK):c.750C>G (p.Arg250=)	GCK	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 3106362	NM_000545.8(HNF1A):c.479C>T (p.Ala160Val)	HNF1A (A160V)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 3075822	NM_000545.8(HNF1A):c.1238_1239dup (p.Ile414fs)	HNF1A (I414fs)	Duplication (frameshift variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 3075768	NM_000162.5(GCK):c.116_123dup (p.Asp42fs)	GCK (D41fs +2 more)	Duplication (frameshift variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 3068849	NM_000162.5(GCK):c.899A>G (p.Glu300Gly)	GCK (E299G +2 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GLikely pathogenic
Select item 3068603	NM_173560.4(RFX6):c.166G>T (p.Glu56Ter)	LOC127407129, RFX6 (E56*)	Single nucleotide variant (nonsense)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 3068502	NM_000352.6(ABCC8):c.3122TGACCC[3] (p.Thr1044_Pro1045insLeuThr)	ABCC8	Microsatellite (inframe_insertion +1 more)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 3024424	NM_000162.5(GCK):c.449_451del (p.Phe150del)	GCK (F149del +2 more)	Deletion (inframe_deletion)	Monogenic diabetes	GPathogenicFDA Recognized database
Select item 2887986	NM_000458.4(HNF1B):c.429C>T (p.Thr143=)	HNF1B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2882865	NM_000545.8(HNF1A):c.1275G>A (p.Thr425=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2775418	NM_000352.6(ABCC8):c.188G>T (p.Ser63Ile)	ABCC8 (S63I)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 2775417	NM_000162.5(GCK):c.1079C>T (p.Ser360Leu)	GCK (S361L +4 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 2775416	NM_175914.5(HNF4A):c.426G>C (p.Gln142His)	HNF4A (Q164H +3 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 2775412	NM_175914.5(HNF4A):c.241G>T (p.Val81Leu)	HNF4A (V103L +3 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 2775406	NM_000545.8(HNF1A):c.1614_1617del (p.Thr539fs)	HNF1A (T539fs +1 more)	Deletion (frameshift variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2775401	NM_000162.5(GCK):c.-429G>A	GCK	Single nucleotide variant (5 prime UTR variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 2735987	NM_000545.8(HNF1A):c.1417C>T (p.Gln473Ter)	HNF1A (Q473*)	Single nucleotide variant (nonsense +1 more)	Maturity onset diabetes mellitus in young +1 more	GPathogenic
Select item 2735006	NM_000162.5(GCK):c.753G>A (p.Met251Ile)	GCK (M250I +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GLikely pathogenic
Select item 2690995	NM_175914.5(HNF4A):c.194G>T (p.Ser65Ile)	HNF4A (S62I +3 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2682389	NM_000545.8(HNF1A):c.1766dup (p.Val590fs)	HNF1A (V526fs +2 more)	Duplication (frameshift variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2627337	NM_000545.8(HNF1A):c.544C>T (p.Gln182Ter)	HNF1A (Q182*)	Single nucleotide variant (nonsense)	Maturity onset diabetes mellitus in young	GPathogenic
Select item 2627283	NM_000352.6(ABCC8):c.1069G>A (p.Val357Ile)	ABCC8 (V356I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GUncertain significance
Select item 2603668	NM_000458.4(HNF1B):c.271A>G (p.Ile91Val)	HNF1B (I91V)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 2587710	NM_000545.8(HNF1A):c.373C>T (p.Gln125Ter)	HNF1A (Q125*)	Single nucleotide variant (nonsense)	Maturity onset diabetes mellitus in young	GPathogenic
Select item 2581134	NM_175914.5(HNF4A):c.734G>A (p.Arg245His)	HNF4A (R242H +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenicFDA Recognized database
Select item 2580880	NM_000162.5(GCK):c.484G>A (p.Gly162Ser)	GCK (G161S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2580879	NM_000162.5(GCK):c.484-11_484-6del	GCK	Deletion (intron variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580878	NM_000162.5(GCK):c.482A>G (p.Lys161Arg)	GCK (K160R +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580877	NM_000162.5(GCK):c.356C>G (p.Ala119Gly)	GCK (A118G +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 2580876	NM_000162.5(GCK):c.208+15C>G	GCK	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580875	NM_175914.5(HNF4A):c.1063G>C (p.Gly355Arg)	HNF4A (G352R +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenicFDA Recognized database
Select item 2580874	NM_175914.5(HNF4A):c.426G>A (p.Gln142=)	HNF4A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 2580873	NM_175914.5(HNF4A):c.225-3C>A	HNF4A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580872	NM_000545.8(HNF1A):c.1742_1768+2delinsACAGGG	HNF1A	Indel (splice donor variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580871	NM_000545.8(HNF1A):c.1623G>A (p.Gln541=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580870	NM_000545.8(HNF1A):c.1501+4A>G	HNF1A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580869	NM_000162.5(GCK):c.208G>C (p.Glu70Gln)	GCK (E69Q +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580868	NM_000545.8(HNF1A):c.955+5G>C	HNF1A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580867	NM_000545.8(HNF1A):c.713+10C>T	HNF1A	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2580866	NM_000545.8(HNF1A):c.526+5G>A	HNF1A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580865	NM_000162.5(GCK):c.1190_1253+11dup	GCK	Duplication (splice donor variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580864	NM_000162.5(GCK):c.1019+20G>A	GCK	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580863	NM_000162.5(GCK):c.1019G>C (p.Ser340Thr)	GCK (S339T +2 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580862	NM_000162.5(GCK):c.863+5G>A	GCK	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580861	NM_000162.5(GCK):c.680-6C>G	GCK	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GPathogenic
Select item 2580860	NM_000162.5(GCK):c.679+5G>A	GCK	Single nucleotide variant (intron variant)	not provided +1 more	GLikely pathogenic
Select item 2580859	NM_000162.5(GCK):c.679G>C (p.Gly227Arg)	GCK (G226R +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2 +1 more	GLikely pathogenic
Select item 2580858	NM_000162.5(GCK):c.677T>G (p.Val226Gly)	GCK (V225G +2 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580857	NM_000162.5(GCK):c.580-3del	GCK	Deletion (intron variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 2580856	NM_000162.5(GCK):c.580-3C>A	GCK	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 2 +1 more	GUncertain significance
Select item 2580855	NM_000162.5(GCK):c.580-9T>G	GCK	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 2578346	NM_175914.5(HNF4A):c.225-21A>G	HNF4A	Single nucleotide variant (intron variant)	Monogenic diabetes	GPathogenicFDA Recognized database
Select item 2576993	NM_178161.3(PTF1A):c.784+1G>A	PTF1A	Single nucleotide variant (splice donor variant)	Maturity onset diabetes mellitus in young	GPathogenic
Select item 2573411	NC_000017.10:g.(?_36046433)_(36105070_?)del	HNF1B	Deletion	Maturity onset diabetes mellitus in young	GPathogenic
Select item 2568072	NM_000545.8(HNF1A):c.408C>G (p.Thr136=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 2567920	NM_000162.5(GCK):c.458C>A (p.Pro153His)	GCK (P152H +2 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenicFDA Recognized database
Select item 2561394	NM_000162.5(GCK):c.534G>A (p.Gly178=)	GCK	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 2525968	NM_000458.4(HNF1B):c.988C>T (p.Leu330Phe)	HNF1B (L304F +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +3 more	GUncertain significance
Select item 2502593	NM_000545.8(HNF1A):c.998_1013del (p.Val333fs)	HNF1A (V333fs)	Deletion (frameshift variant)	Maturity onset diabetes mellitus in young +1 more	GPathogenic/Likely pathogenic
Select item 2496716	NM_000545.8(HNF1A):c.1719C>T (p.Ala573=)	HNF1A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2496645	NM_000162.5(GCK):c.921C>G (p.Leu307=)	GCK	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 2453846	NM_000545.8(HNF1A):c.204G>A (p.Arg68=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 2442326	NM_175914.5(HNF4A):c.50-4560G>T	HNF4A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 2442319	NM_175914.5(HNF4A):c.*2761G>T	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GBenign
Select item 2442318	NM_175914.5(HNF4A):c.2698_2703dup	HNF4A	Duplication (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 2442317	NM_175914.5(HNF4A):c.2678_2679insTT	HNF4A	Insertion (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 2434641	NM_000209.4(PDX1):c.128CGC[6] (p.Pro47_His48insPro)	PDX1	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2431839	NM_000162.5(GCK):c.579+4del	GCK	Deletion (intron variant)	Monogenic diabetes	GPathogenicFDA Recognized database
Select item 2231273	NM_000458.4(HNF1B):c.907C>T (p.Arg303Cys)	HNF1B (R277C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2176373	NM_000162.5(GCK):c.264G>A (p.Leu88=)	GCK	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2164895	NM_000545.8(HNF1A):c.492C>G (p.Thr164=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GBenign/Likely benign
Select item 2136524	NM_000162.5(GCK):c.526G>A (p.Ala176Thr)	GCK (A177T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2136518	NM_000162.5(GCK):c.679G>A (p.Gly227Ser)	GCK (G227S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2136509	NM_000162.5(GCK):c.1151C>A (p.Ala384Glu)	GCK (A47E +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2043239	NM_000458.4(HNF1B):c.999C>T (p.Gly333=)	HNF1B	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GLikely benign
Select item 2038638	NM_000545.8(HNF1A):c.1602C>T (p.Ala534=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GLikely benign
Select item 1983855	NM_000162.5(GCK):c.852C>T (p.Pro284=)	GCK	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GLikely benign

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