Related gene-specific medical variations for Gene (Select 169792) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 73

	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 3063104	GRCh37/hg19 9p24.2(chr9:3898270-4246395)x1	GLIS3	Copy number loss	not specified	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 2685335	GRCh37/hg19 9p24.2(chr9:3898271-4244361)x1	GLIS3	Copy number loss	not provided	GUncertain significance
Select item 2502239	NM_001042413.2(GLIS3):c.122C>A (p.Ser41Ter)	GLIS3 (S41*)	Single nucleotide variant (nonsense)	Neonatal diabetes mellitus with congenital hypothyroidism	GLikely pathogenic
Select item 2502229	NM_001042413.2(GLIS3):c.389-7364T>G	GLIS3	Single nucleotide variant (intron variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 2502188	NM_001042413.2(GLIS3):c.505A>G (p.Ser169Gly)	GLIS3 (S14G +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 2502165	NM_001042413.2(GLIS3):c.491T>A (p.Ile164Asn)	GLIS3 (I164N +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
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 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 2432166	NM_001042413.2(GLIS3):c.35G>A (p.Arg12Gln)	GLIS3 (R12Q)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 2432165	NM_001042413.2(GLIS3):c.1079C>T (p.Pro360Leu)	GLIS3 (P205L +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 2432164	NM_001042413.2(GLIS3):c.1033C>T (p.Pro345Ser)	GLIS3 (P190S +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
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 1803892	NM_001042413.2(GLIS3):c.1710+59006G>A	GLIS3	Single nucleotide variant (intron variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 1803891	NM_001042413.2(GLIS3):c.1710+80188T>A	GLIS3	Single nucleotide variant (intron variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 1803858	NM_001042413.2(GLIS3):c.389-58616G>C	GLIS3	Single nucleotide variant (intron variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 1803857	NM_001042413.2(GLIS3):c.709C>T (p.Leu237Phe)	GLIS3 (L237F +1 more)	Single nucleotide variant (missense variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 1803824	NM_001042413.2(GLIS3):c.-98-4A>G	GLIS3	Single nucleotide variant (intron variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 1676348	NM_152629.4(GLIS3):c.1519-61C>A	GLIS3	Single nucleotide variant	not provided	GBenign
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 1527499	GRCh37/hg19 9p24.2(chr9:3691055-3837855)	GLIS3	Copy number loss	not specified	GUncertain significance
Select item 1527498	GRCh37/hg19 9p24.2(chr9:3543768-4334707)	GLIS3	Copy number gain	not specified	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 1273256	NM_001042413.2(GLIS3):c.1984-152T>C	GLIS3, GLIS3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 915010	NM_001042413.2(GLIS3):c.-542C>T	GLIS3, GLIS3-AS2	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 915009	NM_001042413.2(GLIS3):c.-510T>G	GLIS3, GLIS3-AS2	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 915008	NM_001042413.2(GLIS3):c.-419T>C	GLIS3, GLIS3-AS2	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 915007	NM_001042413.2(GLIS3):c.-379C>A	GLIS3-AS2, GLIS3	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
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 914497	NM_001042413.2(GLIS3):c.-205C>G	GLIS3, GLIS3-AS2	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914496	NM_001042413.2(GLIS3):c.-204C>G	GLIS3, GLIS3-AS2	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 914495	NM_001042413.2(GLIS3):c.-132C>G	GLIS3, GLIS3-AS2	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 913054	NM_001042413.2(GLIS3):c.-588C>T	GLIS3, GLIS3-AS2	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	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 688646	GRCh37/hg19 9p24.2(chr9:3746822-3846049)x3	GLIS3	Copy number gain	not provided	GUncertain significance
Select item 687121	GRCh37/hg19 9p24.2(chr9:3746822-3846049)x3	GLIS3	Copy number gain	not provided	GUncertain significance
Select item 686120	GRCh37/hg19 9p24.2(chr9:4087459-4194689)x1	GLIS3	Copy number loss	not provided	GUncertain significance
Select item 685244	GRCh37/hg19 9p24.2(chr9:3867469-4228604)x3	GLIS3	Copy number gain	not provided	GUncertain significance
Select item 563587	GRCh37/hg19 9p24.2(chr9:4199856-4305558)x1	GLIS3	Copy number loss	not provided	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 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 367021	NM_001042413.2(GLIS3):c.-681C>T	GLIS3, GLIS3-AS2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 367020	NM_001042413.2(GLIS3):c.-641C>A	GLIS3, GLIS3-AS2	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 367019	NM_001042413.2(GLIS3):c.-636C>T	GLIS3-AS2, GLIS3	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GBenign
Select item 367018	NM_001042413.2(GLIS3):c.-619C>G	GLIS3, GLIS3-AS2	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 367017	NM_001042413.2(GLIS3):c.-588C>A	GLIS3, GLIS3-AS2	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 367016	NM_001042413.2(GLIS3):c.-524C>T	GLIS3, GLIS3-AS2	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GBenign
Select item 367015	NM_001042413.2(GLIS3):c.-523C>G	GLIS3, GLIS3-AS2	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GLikely benign
Select item 367014	NM_001042413.2(GLIS3):c.-514G>A	GLIS3, GLIS3-AS2	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 367013	NM_001042413.2(GLIS3):c.-345C>T	GLIS3, GLIS3-AS2	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 367012	NM_001042413.2(GLIS3):c.-344C>T	GLIS3, GLIS3-AS2	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 367011	NM_001042413.2(GLIS3):c.-270C>A	GLIS3, GLIS3-AS2	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism +1 more	GBenign
Select item 367010	NM_001042413.2(GLIS3):c.-223C>T	GLIS3, GLIS3-AS2	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 367009	NM_001042413.2(GLIS3):c.-165C>T	GLIS3-AS2, GLIS3	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 367008	NM_001042413.2(GLIS3):c.-154C>T	GLIS3, GLIS3-AS2	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 367007	NM_001042413.2(GLIS3):c.-131G>A	GLIS3, GLIS3-AS2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 367006	NM_001042413.2(GLIS3):c.-115G>A	GLIS3-AS2, GLIS3	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	GUncertain significance
Select item 367005	NM_001042413.2(GLIS3):c.-110C>G	GLIS3, GLIS3-AS2	Single nucleotide variant (5 prime UTR variant)	Neonatal diabetes mellitus with congenital hypothyroidism	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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 73