C1857775[trait identifier] AND "Clinical Genomics, Uppaluri K&H Person - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 393413	NM_001042413.2(GLIS3):c.2095C>T (p.Arg699Cys)	GLIS3, GLIS3-AS1 (R699C +1 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes +2 more	GConflicting classifications of pathogenicity
Select item 730580	NM_001042413.2(GLIS3):c.2089G>A (p.Val697Met)	GLIS3, GLIS3-AS1 (V542M +1 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes +3 more	GConflicting classifications of pathogenicity
Select item 366962	NM_001042413.2(GLIS3):c.1881T>C (p.Tyr627=)	GLIS3	Single nucleotide variant (synonymous variant)	Transitory neonatal diabetes mellitus +2 more	GBenign
Select item 129158	NM_001042413.2(GLIS3):c.1536C>A (p.Asp512Glu)	GLIS3 (D512E +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +4 more	GBenign
Select item 129160	NM_001042413.2(GLIS3):c.1367C>A (p.Pro456Gln)	GLIS3 (P456Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 393415	NM_001042413.2(GLIS3):c.1318A>G (p.Thr440Ala)	GLIS3 (T440A +1 more)	Single nucleotide variant (missense variant)	Transitory neonatal diabetes mellitus +3 more	GBenign/Likely benign
Select item 366981	NM_001042413.2(GLIS3):c.1260C>T (p.Pro420=)	GLIS3	Single nucleotide variant (synonymous variant)	Transitory neonatal diabetes mellitus +3 more	GBenign/Likely benign
Select item 366982	NM_001042413.2(GLIS3):c.1216G>T (p.Gly406Cys)	GLIS3 (G406C +1 more)	Single nucleotide variant (missense variant)	Transitory neonatal diabetes mellitus +2 more	GBenign/Likely benign
Select item 731832	NM_001042413.2(GLIS3):c.1200C>G (p.His400Gln)	GLIS3 (H245Q +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism +2 more	GConflicting classifications of pathogenicity
Select item 549531	NM_001042413.2(GLIS3):c.1154G>T (p.Gly385Val)	GLIS3 (G385V +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism +2 more	GUncertain significance
Select item 366984	NM_001042413.2(GLIS3):c.1126C>T (p.Pro376Ser)	GLIS3 (P376S +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +3 more	GBenign
Select item 393417	NM_001042413.2(GLIS3):c.1085C>A (p.Pro362Gln)	GLIS3 (P362Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 366988	NM_001042413.2(GLIS3):c.954C>T (p.Thr318=)	GLIS3	Single nucleotide variant (synonymous variant)	GLIS3-related condition +4 more	GBenign/Likely benign
Select item 717911	NM_001042413.2(GLIS3):c.793G>T (p.Val265Phe)	GLIS3 (V265F +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism +2 more	GConflicting classifications of pathogenicity
Select item 393419	NM_001042413.2(GLIS3):c.232C>G (p.Arg78Gly)	GLIS3 (R78G)	Single nucleotide variant (missense variant)	Monogenic diabetes +3 more	GConflicting classifications of pathogenicity
Select item 257273	NM_001042413.2(GLIS3):c.171C>T (p.Asn57=)	GLIS3	Single nucleotide variant (synonymous variant)	Neonatal diabetes mellitus with congenital hypothyroidism +3 more	GBenign/Likely benign