ClinVar for Gene (Select 169792) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3371086	NM_001042413.2(GLIS3):c.1273G>A (p.Ala425Thr)	GLIS3 (A270T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3351236	NM_001042413.2(GLIS3):c.1290C>T (p.Thr430=)	GLIS3	Single nucleotide variant (synonymous variant)	GLIS3-related disorder	GLikely benign
Select item 3350400	NM_001042413.2(GLIS3):c.*5T>C	GLIS3	Single nucleotide variant (3 prime UTR variant)	GLIS3-related disorder	GLikely benign
Select item 3281609	NM_001042413.2(GLIS3):c.1331C>T (p.Pro444Leu)	GLIS3 (P444L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281608	NM_001042413.2(GLIS3):c.1361C>T (p.Pro454Leu)	GLIS3 (P299L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281607	NM_001042413.2(GLIS3):c.49C>G (p.Pro17Ala)	GLIS3 (P17A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281606	NM_001042413.2(GLIS3):c.556A>G (p.Met186Val)	GLIS3 (M31V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281605	NM_001042413.2(GLIS3):c.2569T>A (p.Phe857Ile)	GLIS3 (F702I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3281603	NM_001042413.2(GLIS3):c.202A>G (p.Met68Val)	GLIS3 (M68V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281602	NM_001042413.2(GLIS3):c.2567C>G (p.Ser856Trp)	GLIS3 (S701W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3245400	NC_000009.11:g.(?_3828272)_(4585558_?)dup	GLIS3, SLC1A1	Duplication	not provided	GUncertain significance
Select item 3148906	GRCh37/hg19 9p24.2(chr9:2527902-4077112)x3	GLIS3, KCNV2 +3 more	Copy number gain	See cases	GUncertain significance
Select item 3100288	NM_001042413.2(GLIS3):c.1274C>T (p.Ala425Val)	GLIS3 (A425V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100286	NM_001042413.2(GLIS3):c.1204G>A (p.Gly402Ser)	GLIS3 (G247S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100285	NM_001042413.2(GLIS3):c.897G>T (p.Lys299Asn)	GLIS3 (K144N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100283	NM_001042413.2(GLIS3):c.28C>A (p.Leu10Ile)	GLIS3 (L10I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100282	NM_001042413.2(GLIS3):c.2620T>A (p.Phe874Ile)	GLIS3 (F874I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100281	NM_001042413.2(GLIS3):c.211C>G (p.Gln71Glu)	GLIS3 (Q71E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100280	NM_001042413.2(GLIS3):c.2443T>A (p.Ser815Thr)	GLIS3 (S660T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100279	NM_001042413.2(GLIS3):c.2434A>G (p.Thr812Ala)	GLIS3 (T657A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100278	NM_001042413.2(GLIS3):c.2404G>C (p.Gly802Arg)	GLIS3 (G802R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100277	NM_001042413.2(GLIS3):c.2287G>A (p.Gly763Arg)	GLIS3 (G608R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100276	NM_001042413.2(GLIS3):c.2209C>T (p.Pro737Ser)	GLIS3 (P737S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100275	NM_001042413.2(GLIS3):c.2204G>C (p.Ser735Thr)	GLIS3 (S580T +1 more)	Single nucleotide variant (missense variant)	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 3100271	NM_001042413.2(GLIS3):c.1895C>T (p.Pro632Leu)	GLIS3 (P632L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100270	NM_001042413.2(GLIS3):c.1603A>G (p.Thr535Ala)	GLIS3 (T380A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100269	NM_001042413.2(GLIS3):c.1483G>C (p.Gly495Arg)	GLIS3 (G340R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063123	GRCh37/hg19 9p24.3-24.1(chr9:203862-8548307)x1	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 3063104	GRCh37/hg19 9p24.2(chr9:3898270-4246395)x1	GLIS3	Copy number loss	not specified	GUncertain significance
Select item 3063089	GRCh37/hg19 9p24.3-23(chr9:203861-9128400)x1	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 3063080	GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1	AK3, BRD10 +47 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063070	GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1	ADAMTSL1, AK3 +57 more	Copy number loss	not specified	GPathogenic
Select item 3061644	NM_001042413.2(GLIS3):c.1254G>A (p.Pro418=)	GLIS3	Single nucleotide variant (synonymous variant)	GLIS3-related disorder	GLikely benign
Select item 3050208	NM_001042413.2(GLIS3):c.1011G>C (p.Ser337=)	GLIS3	Single nucleotide variant (synonymous variant)	GLIS3-related disorder	GLikely benign
Select item 3030919	NM_001042413.2(GLIS3):c.8del (p.Gly3fs)	GLIS3 (G3fs)	Deletion (frameshift variant)	GLIS3-related disorder	GUncertain significance
Select item 3026671	NM_001042413.2(GLIS3):c.2335C>A (p.Pro779Thr)	GLIS3 (P624T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026165	NM_001042413.2(GLIS3):c.2474-1G>C	GLIS3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3023684	NM_001042413.2(GLIS3):c.2190C>T (p.Pro730=)	GLIS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019331	NM_001042413.2(GLIS3):c.1590A>G (p.Lys530=)	GLIS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003794	NM_001042413.2(GLIS3):c.2208C>T (p.His736=)	GLIS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997312	NM_001042413.2(GLIS3):c.1873-23TTCT[5]	GLIS3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2983374	NM_001042413.2(GLIS3):c.1663C>T (p.Leu555=)	GLIS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980955	NM_001042413.2(GLIS3):c.2682G>A (p.Ser894=)	GLIS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973390	NM_001042413.2(GLIS3):c.1335C>G (p.Pro445=)	GLIS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971560	NM_001042413.2(GLIS3):c.2473+12G>A	GLIS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968789	NM_001042413.2(GLIS3):c.2688C>T (p.Leu896=)	GLIS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956439	NM_001042413.2(GLIS3):c.2365C>T (p.Leu789=)	GLIS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914581	NM_001042413.2(GLIS3):c.1161C>T (p.Asp387=)	GLIS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905249	NM_001042413.2(GLIS3):c.1806G>A (p.Pro602=)	GLIS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2885221	NM_001042413.2(GLIS3):c.999G>T (p.Gly333=)	GLIS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883495	NM_001042413.2(GLIS3):c.2484G>T (p.Gly828=)	GLIS3	Single nucleotide variant (synonymous variant)	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 2855198	NM_001042413.2(GLIS3):c.1443C>G (p.Ala481=)	GLIS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837518	NM_001042413.2(GLIS3):c.1830C>T (p.Asn610=)	GLIS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808630	NM_001042413.2(GLIS3):c.2391C>G (p.Thr797=)	GLIS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807283	NM_001042413.2(GLIS3):c.1446G>A (p.Leu482=)	GLIS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796937	NM_001042413.2(GLIS3):c.1035G>A (p.Pro345=)	GLIS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790025	NM_001042413.2(GLIS3):c.2637G>T (p.Ser879=)	GLIS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2736361	NM_001042413.2(GLIS3):c.596+9T>A	GLIS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2705826	NM_001042413.2(GLIS3):c.1983+9_1983+10insGGAAAAAGGTAATTTTATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGTCAGGGGCGCGCTTACGCGGGGAGGCTCCTGTGCTCTCCGGCTGCTGGGGCGACGGGTTTGGGGGGGGGGGGGTTAGCTGGGAGGGGAGAATCCAACAATC	GLIS3	Insertion (splice donor variant)	not provided	GUncertain significance
Select item 2701672	NM_001042413.2(GLIS3):c.1359G>C (p.Pro453=)	GLIS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700443	NM_001042413.2(GLIS3):c.2656+20C>T	GLIS3	Single nucleotide variant (intron variant)	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 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2671611	Single allele	AK3, BNC2 +49 more	Deletion	not provided	GPathogenic
Select item 2659041	NM_001042413.2(GLIS3):c.273C>T (p.Leu91=)	GLIS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659040	NM_001042413.2(GLIS3):c.630G>A (p.Thr210=)	GLIS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615226	NM_001042413.2(GLIS3):c.215A>G (p.Asn72Ser)	GLIS3 (N72S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2604964	NM_001042413.2(GLIS3):c.2579G>A (p.Cys860Tyr)	GLIS3 (C860Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604841	NM_001042413.2(GLIS3):c.1561A>G (p.Ile521Val)	GLIS3 (I366V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2554672	NM_001042413.2(GLIS3):c.2752C>T (p.Arg918Cys)	GLIS3 (R918C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545799	NM_001042413.2(GLIS3):c.385A>C (p.Lys129Gln)	GLIS3 (K129Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544602	NM_001042413.2(GLIS3):c.144T>G (p.Ser48Arg)	GLIS3 (S48R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530492	NM_001042413.2(GLIS3):c.2697G>C (p.Glu899Asp)	GLIS3 (E899D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508535	NM_001042413.2(GLIS3):c.153G>C (p.Met51Ile)	GLIS3 (M51I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2505757	NM_001042413.2(GLIS3):c.2746_2755delinsC (p.Val916_Cys919delinsArg)	GLIS3	Indel (inframe_indel)	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 2502111	NM_001042413.2(GLIS3):c.546A>G (p.Leu182=)	GLIS3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2462615	NM_001042413.2(GLIS3):c.122C>T (p.Ser41Leu)	GLIS3 (S41L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446669	NM_001042413.2(GLIS3):c.527A>G (p.Asn176Ser)	GLIS3 (N176S +1 more)	Single nucleotide variant (missense variant)	not provided	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 2427401	NC_000009.11:g.(?_3828272)_(3829512_?)del	GLIS3	Deletion	not provided	GUncertain significance
Select item 2427400	NC_000009.11:g.(?_3828272)_(5126791_?)del	AK3, CDC37L1 +7 more	Deletion	not provided	GPathogenic
Select item 2419790	NM_001042413.2(GLIS3):c.1013C>T (p.Pro338Leu)	GLIS3 (P183L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2385799	NM_001042413.2(GLIS3):c.2471A>C (p.His824Pro)	GLIS3 (H669P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2383766	NM_001042413.2(GLIS3):c.320C>T (p.Ser107Leu)	GLIS3 (S107L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351948	NM_001042413.2(GLIS3):c.252A>T (p.Leu84Phe)	GLIS3 (L84F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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