C1857775[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 913192	NM_001042413.2(GLIS3):c.*69T>C	GLIS3	Single nucleotide variant (3 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	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 366953	NM_001042413.2(GLIS3):c.2710G>A (p.Gly904Arg)	GLIS3 (G904R +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism +1 more	GUncertain significance
Select item 913196	NM_001042413.2(GLIS3):c.2705G>A (p.Arg902His)	GLIS3 (R747H +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism +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 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 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 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 1629658	NM_001042413.2(GLIS3):c.2473+13C>T	GLIS3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 747699	NM_001042413.2(GLIS3):c.2421C>G (p.Ser807=)	GLIS3	Single nucleotide variant (synonymous variant)	Neonatal diabetes mellitus with congenital hypothyroidism +1 more	GLikely benign
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 789018	NM_001042413.2(GLIS3):c.2340G>A (p.Arg780=)	GLIS3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 549528	NM_001042413.2(GLIS3):c.2339G>A (p.Arg780Gln)	GLIS3 (R780Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 366954	NM_001042413.2(GLIS3):c.2323C>T (p.His775Tyr)	GLIS3 (H775Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	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 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 435335	NM_001042413.2(GLIS3):c.2096G>A (p.Arg699His)	GLIS3, GLIS3-AS1 (R544H +1 more)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus with congenital hypothyroidism +3 more	GUncertain significance
Select item 366958	NM_001042413.2(GLIS3):c.2060C>T (p.Ser687Phe)	GLIS3, GLIS3-AS1 (S687F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 366959	NM_001042413.2(GLIS3):c.2027G>T (p.Cys676Phe)	GLIS3, GLIS3-AS1 (C676F +1 more)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus with congenital hypothyroidism +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 366960	NM_001042413.2(GLIS3):c.1988G>A (p.Arg663Gln)	GLIS3, GLIS3-AS1 (R663Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 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 1563677	NM_001042413.2(GLIS3):c.1686T>G (p.Ser562=)	GLIS3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 1337367	NM_001042413.2(GLIS3):c.1395T>C (p.His465=)	GLIS3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 393414	NM_001042413.2(GLIS3):c.1330C>T (p.Pro444Ser)	GLIS3 (P444S +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +1 more	GUncertain significance
Select item 366980	NM_001042413.2(GLIS3):c.1327C>T (p.Leu443=)	GLIS3	Single nucleotide variant (synonymous variant)	Neonatal diabetes mellitus with congenital hypothyroidism +1 more	GBenign/Likely benign
Select item 745810	NM_001042413.2(GLIS3):c.1326C>T (p.Asp442=)	GLIS3	Single nucleotide variant (synonymous variant)	Neonatal diabetes mellitus with congenital hypothyroidism +1 more	GLikely benign
Select item 393415	NM_001042413.2(GLIS3):c.1318A>G (p.Thr440Ala)	GLIS3 (T440A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 913285	NM_001042413.2(GLIS3):c.1310C>T (p.Pro437Leu)	GLIS3 (P282L +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism +2 more	GConflicting classifications of pathogenicity
Select item 750426	NM_001042413.2(GLIS3):c.1272G>A (p.Ser424=)	GLIS3	Single nucleotide variant (synonymous variant)	Neonatal diabetes mellitus with congenital hypothyroidism +1 more	GLikely benign
Select item 435336	NM_001042413.2(GLIS3):c.1263C>T (p.Asp421=)	GLIS3	Single nucleotide variant (synonymous variant)	Neonatal diabetes mellitus with congenital hypothyroidism +2 more	GLikely benign
Select item 366981	NM_001042413.2(GLIS3):c.1260C>T (p.Pro420=)	GLIS3	Single nucleotide variant (synonymous variant)	Neonatal diabetes mellitus with congenital hypothyroidism +2 more	GBenign/Likely benign
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 366983	NM_001042413.2(GLIS3):c.1214C>T (p.Pro405Leu)	GLIS3 (P405L +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism	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 549531	NM_001042413.2(GLIS3):c.1154G>T (p.Gly385Val)	GLIS3 (G385V +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GUncertain significance
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 129156	NM_001042413.2(GLIS3):c.938G>C (p.Gly313Ala)	GLIS3 (G313A +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism +3 more	GBenign/Likely benign
Select item 717912	NM_001042413.2(GLIS3):c.744A>G (p.Leu248=)	GLIS3	Single nucleotide variant (synonymous variant)	Neonatal diabetes mellitus with congenital hypothyroidism +1 more	GBenign/Likely benign
Select item 366991	NM_001042413.2(GLIS3):c.638G>A (p.Ser213Asn)	GLIS3 (S213N +1 more)	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 667376	NM_001042413.2(GLIS3):c.571_572dup (p.Leu191_Asn192insTer)	GLIS3	Duplication (frameshift variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GPathogenic/Likely pathogenic
Select item 754374	NM_001042413.2(GLIS3):c.555A>C (p.Ala185=)	GLIS3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 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 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 498558	NM_001042413.2(GLIS3):c.220G>A (p.Val74Met)	GLIS3 (V74M)	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 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 367002	NM_001042413.2(GLIS3):c.82A>G (p.Ile28Val)	GLIS3 (I28V)	Single nucleotide variant (missense 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 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

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Items: 55