ClinVar for MedGen (Select 347541) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2502239	NM_001042413.2(GLIS3):c.122C>A (p.Ser41Ter)	GLIS3 (S41*)	Single nucleotide variant (nonsense)	Neonatal diabetes mellitus with congenital hypothyroidism	GLikely pathogenic
Select item 2502229	NM_001042413.2(GLIS3):c.389-7364T>G	GLIS3	Single nucleotide variant (intron variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 2502188	NM_001042413.2(GLIS3):c.505A>G (p.Ser169Gly)	GLIS3 (S14G +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 2502165	NM_001042413.2(GLIS3):c.491T>A (p.Ile164Asn)	GLIS3 (I164N +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 2442123	NM_001042413.2(GLIS3):c.706T>G (p.Ser236Ala)	GLIS3 (S236A +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 2442082	NM_001042413.2(GLIS3):c.2206C>A (p.His736Asn)	GLIS3 (H581N +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 2432166	NM_001042413.2(GLIS3):c.35G>A (p.Arg12Gln)	GLIS3 (R12Q)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 2432165	NM_001042413.2(GLIS3):c.1079C>T (p.Pro360Leu)	GLIS3 (P205L +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 2432164	NM_001042413.2(GLIS3):c.1033C>T (p.Pro345Ser)	GLIS3 (P190S +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 1803893	NM_001042413.2(GLIS3):c.187C>T (p.Pro63Ser)	GLIS3 (P63S)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism +1 more	GUncertain significance
Select item 1803892	NM_001042413.2(GLIS3):c.1710+59006G>A	GLIS3	Single nucleotide variant (intron variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 1803891	NM_001042413.2(GLIS3):c.1710+80188T>A	GLIS3	Single nucleotide variant (intron variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 1803858	NM_001042413.2(GLIS3):c.389-58616G>C	GLIS3	Single nucleotide variant (intron variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 1803857	NM_001042413.2(GLIS3):c.709C>T (p.Leu237Phe)	GLIS3 (L237F +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 1803824	NM_001042413.2(GLIS3):c.-98-4A>G	GLIS3	Single nucleotide variant (intron variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 1660763	NM_001042413.2(GLIS3):c.2297+16T>C	GLIS3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1639018	NM_001042413.2(GLIS3):c.1984-16C>T	GLIS3, GLIS3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Neonatal diabetes mellitus with congenital hypothyroidism +1 more	GLikely benign
Select item 1629658	NM_001042413.2(GLIS3):c.2473+13C>T	GLIS3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1605144	NM_001042413.2(GLIS3):c.2657-17C>T	GLIS3	Single nucleotide variant (intron variant)	Neonatal diabetes mellitus with congenital hypothyroidism +1 more	GLikely benign
Select item 1563677	NM_001042413.2(GLIS3):c.1686T>G (p.Ser562=)	GLIS3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1502124	NM_001042413.2(GLIS3):c.950A>G (p.Asn317Ser)	GLIS3 (N162S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1445264	NM_001042413.2(GLIS3):c.2681C>T (p.Ser894Leu)	GLIS3 (S894L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1408018	NM_001042413.2(GLIS3):c.1994G>A (p.Ser665Asn)	GLIS3, GLIS3-AS1 (S665N +1 more)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus with congenital hypothyroidism +1 more	GUncertain significance
Select item 1398568	NM_001042413.2(GLIS3):c.2531T>C (p.Ile844Thr)	GLIS3 (I844T +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism +1 more	GUncertain significance
Select item 1371257	NM_001042413.2(GLIS3):c.2503C>G (p.Pro835Ala)	GLIS3 (P680A +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism +1 more	GUncertain significance
Select item 1367887	NM_001042413.2(GLIS3):c.1416G>T (p.Glu472Asp)	GLIS3 (E472D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1363878	NM_001042413.2(GLIS3):c.2746G>A (p.Val916Met)	GLIS3 (V761M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1362519	NM_001042413.2(GLIS3):c.1210C>A (p.Gln404Lys)	GLIS3 (Q404K +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism +1 more	GUncertain significance
Select item 1337367	NM_001042413.2(GLIS3):c.1395T>C (p.His465=)	GLIS3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1309872	NM_001042413.2(GLIS3):c.1779C>T (p.Gly593=)	GLIS3	Single nucleotide variant (synonymous variant)	Neonatal diabetes mellitus with congenital hypothyroidism +1 more	GConflicting classifications of pathogenicity
Select item 1030060	NM_001042413.2(GLIS3):c.94C>T (p.Arg32Ter)	GLIS3 (R32*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1030059	NM_001042413.2(GLIS3):c.2528G>A (p.Arg843Lys)	GLIS3 (R688K +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 1030058	NM_001042413.2(GLIS3):c.205G>A (p.Ala69Thr)	GLIS3 (A69T)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 976632	NM_001042413.2(GLIS3):c.*513G>A	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 976631	NM_001042413.2(GLIS3):c.*515G>A	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 917459	NM_001042413.2(GLIS3):c.24G>T (p.Met8Ile)	GLIS3 (M8I)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism +1 more	GUncertain significance
Select item 917457	NM_001042413.2(GLIS3):c.95G>C (p.Arg32Pro)	GLIS3 (R32P)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism +1 more	GUncertain significance
Select item 917455	NM_001042413.2(GLIS3):c.275C>T (p.Thr92Ile)	GLIS3 (T92I)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GUncertain significance
Select item 915010	NM_001042413.2(GLIS3):c.-542C>T	GLIS3, GLIS3-AS2	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 915009	NM_001042413.2(GLIS3):c.-510T>G	GLIS3, GLIS3-AS2	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 915008	NM_001042413.2(GLIS3):c.-419T>C	GLIS3, GLIS3-AS2	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 915007	NM_001042413.2(GLIS3):c.-379C>A	GLIS3-AS2, GLIS3	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914962	NM_001042413.2(GLIS3):c.287C>T (p.Pro96Leu)	GLIS3 (P96L)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914961	NM_001042413.2(GLIS3):c.388G>A (p.Gly130Arg)	GLIS3 (G130R)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914915	NM_001042413.2(GLIS3):c.969G>A (p.Ser323=)	GLIS3	Single nucleotide variant (synonymous variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914914	NM_001042413.2(GLIS3):c.1027C>T (p.Pro343Ser)	GLIS3 (P188S +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914826	NM_001042413.2(GLIS3):c.2077G>A (p.Ala693Thr)	GLIS3, GLIS3-AS1 (A693T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 914825	NM_001042413.2(GLIS3):c.2107C>T (p.Pro703Ser)	GLIS3, GLIS3-AS1 (P703S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 914792	NM_001042413.2(GLIS3):c.*557A>G	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GLikely benign
Select item 914791	NM_001042413.2(GLIS3):c.*564C>T	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914790	NM_001042413.2(GLIS3):c.*593G>C	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914789	NM_001042413.2(GLIS3):c.*673T>C	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GLikely benign
Select item 914788	NM_001042413.2(GLIS3):c.*679C>A	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914787	NM_001042413.2(GLIS3):c.*701T>C	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914736	NM_001042413.2(GLIS3):c.*1507T>C	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914735	NM_001042413.2(GLIS3):c.*1566T>G	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914734	NM_001042413.2(GLIS3):c.*1673A>G	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914691	NM_001042413.2(GLIS3):c.*2657T>G	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914690	NM_001042413.2(GLIS3):c.*2697T>G	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914653	NM_001042413.2(GLIS3):c.*3337T>A	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914652	NM_001042413.2(GLIS3):c.*3340T>A	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914651	NM_001042413.2(GLIS3):c.*3343T>A	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914497	NM_001042413.2(GLIS3):c.-205C>G	GLIS3, GLIS3-AS2	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914496	NM_001042413.2(GLIS3):c.-204C>G	GLIS3, GLIS3-AS2	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914495	NM_001042413.2(GLIS3):c.-132C>G	GLIS3, GLIS3-AS2	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914403	NM_001042413.2(GLIS3):c.1092G>C (p.Pro364=)	GLIS3	Single nucleotide variant (synonymous variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914402	NM_001042413.2(GLIS3):c.1111G>T (p.Gly371Cys)	GLIS3 (G216C +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914401	NM_001042413.2(GLIS3):c.1124C>A (p.Ala375Asp)	GLIS3 (A375D +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914329	NM_001042413.2(GLIS3):c.2350G>C (p.Ala784Pro)	GLIS3 (A629P +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism +1 more	GUncertain significance
Select item 914328	NM_001042413.2(GLIS3):c.2494A>G (p.Lys832Glu)	GLIS3 (K677E +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism +1 more	GUncertain significance
Select item 914327	NM_001042413.2(GLIS3):c.2538G>A (p.Pro846=)	GLIS3	Single nucleotide variant (synonymous variant)	Neonatal diabetes mellitus with congenital hypothyroidism +1 more	GConflicting classifications of pathogenicity
Select item 914326	NM_001042413.2(GLIS3):c.2568G>A (p.Ser856=)	GLIS3	Single nucleotide variant (synonymous variant)	Neonatal diabetes mellitus with congenital hypothyroidism +1 more	GConflicting classifications of pathogenicity
Select item 914325	NM_001042413.2(GLIS3):c.2656+3G>A	GLIS3	Single nucleotide variant (intron variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914290	NM_001042413.2(GLIS3):c.*836A>G	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914289	NM_001042413.2(GLIS3):c.*863T>C	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914288	NM_001042413.2(GLIS3):c.*962G>A	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914287	NM_001042413.2(GLIS3):c.*969C>T	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914246	NM_001042413.2(GLIS3):c.*1765G>A	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914198	NM_001042413.2(GLIS3):c.*2759A>C	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914197	NM_001042413.2(GLIS3):c.*2764C>G	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914196	NM_001042413.2(GLIS3):c.*2766G>C	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914195	NM_001042413.2(GLIS3):c.*2787G>A	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GLikely benign
Select item 914153	NM_001042413.2(GLIS3):c.*3344T>A	GLIS3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 914152	NM_001042413.2(GLIS3):c.*3394T>C	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914151	NM_001042413.2(GLIS3):c.*3441T>C	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914150	NM_001042413.2(GLIS3):c.*3576G>A	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914149	NM_001042413.2(GLIS3):c.*3601C>A	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GLikely benign
Select item 914148	NM_001042413.2(GLIS3):c.*3611T>C	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914147	NM_001042413.2(GLIS3):c.*3641A>G	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 913798	NM_001042413.2(GLIS3):c.*2891G>C	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GBenign
Select item 913796	NM_001042413.2(GLIS3):c.*2962G>C	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 913750	NM_001042413.2(GLIS3):c.*3764G>A	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 913749	NM_001042413.2(GLIS3):c.*3934A>G	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 913748	NM_001042413.2(GLIS3):c.*3948G>T	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 913747	NM_001042413.2(GLIS3):c.*4017T>C	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 913375	NM_001042413.2(GLIS3):c.41C>G (p.Ser14Trp)	GLIS3 (S14W)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 913327	NM_001042413.2(GLIS3):c.596+6A>C	GLIS3	Single nucleotide variant (intron variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 913326	NM_001042413.2(GLIS3):c.596+8G>A	GLIS3	Single nucleotide variant (intron variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 913287	NM_001042413.2(GLIS3):c.1227C>A (p.Asn409Lys)	GLIS3 (N254K +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism +1 more	GUncertain significance
Select item 913286	NM_001042413.2(GLIS3):c.1287G>C (p.Lys429Asn)	GLIS3 (K274N +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance

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