Related gene-specific medical variations for Gene (Select 84850) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281604	NM_001042413.2(GLIS3):c.2072C>A (p.Ala691Asp)	GLIS3, GLIS3-AS1 (A536D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3100274	NM_001042413.2(GLIS3):c.2072C>T (p.Ala691Val)	GLIS3, GLIS3-AS1 (A536V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3100273	NM_001042413.2(GLIS3):c.2000A>C (p.Glu667Ala)	GLIS3, GLIS3-AS1 (E667A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3100272	NM_001042413.2(GLIS3):c.1995C>G (p.Ser665Arg)	GLIS3, GLIS3-AS1 (S510R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2888495	NM_001042413.2(GLIS3):c.2109C>T (p.Pro703=)	GLIS3, GLIS3-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2881773	NM_001042413.2(GLIS3):c.2034C>T (p.Thr678=)	GLIS3, GLIS3-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2282666	NM_001042413.2(GLIS3):c.1987C>T (p.Arg663Trp)	GLIS3, GLIS3-AS1 (R508W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266886	NM_001042413.2(GLIS3):c.1988G>C (p.Arg663Pro)	GLIS3, GLIS3-AS1 (R508P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2050490	NM_001042413.2(GLIS3):c.2010A>G (p.Pro670=)	GLIS3, GLIS3-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1994733	NM_001042413.2(GLIS3):c.2128+19G>C	GLIS3, GLIS3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1944367	NM_001042413.2(GLIS3):c.2086A>C (p.Thr696Pro)	GLIS3, GLIS3-AS1 (T696P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1913920	NM_001042413.2(GLIS3):c.1984-17C>T	GLIS3, GLIS3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 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 1273256	NM_001042413.2(GLIS3):c.1984-152T>C	GLIS3, GLIS3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 730580	NM_001042413.2(GLIS3):c.2089G>A (p.Val697Met)	GLIS3, GLIS3-AS1 (V542M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 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 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 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 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 366957	NM_001042413.2(GLIS3):c.2110G>A (p.Gly704Arg)	GLIS3-AS1, GLIS3 (G704R +1 more)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance

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Links from Gene

Items: 24