C1857775[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 782116	NM_001042413.2(GLIS3):c.1873-9C>G	GLIS3	Single nucleotide variant (intron variant)	Neonatal diabetes mellitus with congenital hypothyroidism +1 more	GConflicting classifications of pathogenicity
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 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 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