"Fulgent Genetics, Fulgent Genetics"[submitter] AND "GLIS3-AS1"[gene] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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