GLIS1[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	LOC129930559, LOC129930560 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 2541858	NM_001367484.1(GLIS1):c.2314G>C (p.Asp772His)	GLIS1 (D772H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239924	NM_001367484.1(GLIS1):c.2186G>A (p.Arg729Gln)	GLIS1 (R737Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600027	NM_001367484.1(GLIS1):c.2180C>T (p.Pro727Leu)	GLIS1 (P727L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589402	NM_001367484.1(GLIS1):c.2141G>T (p.Gly714Val)	GLIS1 (G722V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2253369	NM_001367484.1(GLIS1):c.2130A>C (p.Glu710Asp)	GLIS1 (E718D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258294	NM_001367484.1(GLIS1):c.2078T>C (p.Phe693Ser)	GLIS1 (F518S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488805	NM_001367484.1(GLIS1):c.1984C>T (p.Pro662Ser)	GLIS1 (P670S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350299	NM_001367484.1(GLIS1):c.1962G>C (p.Gln654His)	GLIS1 (Q479H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249912	NM_001367484.1(GLIS1):c.1943C>G (p.Pro648Arg)	GLIS1 (P656R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558897	NM_001367484.1(GLIS1):c.1898T>C (p.Leu633Pro)	GLIS1 (L641P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483163	NM_001367484.1(GLIS1):c.1889G>A (p.Gly630Glu)	GLIS1 (G455E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265215	NM_001367484.1(GLIS1):c.1889G>C (p.Gly630Ala)	GLIS1 (G630A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479969	NM_001367484.1(GLIS1):c.1774C>G (p.Leu592Val)	GLIS1 (L600V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607434	NM_001367484.1(GLIS1):c.1757A>G (p.Asn586Ser)	GLIS1 (N594S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245390	NM_001367484.1(GLIS1):c.1709G>A (p.Gly570Asp)	GLIS1 (G578D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 784949	NM_001367484.1(GLIS1):c.1593+10C>G	GLIS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2215461	NM_001367484.1(GLIS1):c.1552G>A (p.Val518Ile)	GLIS1 (V343I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599872	NM_001367484.1(GLIS1):c.1453G>A (p.Ala485Thr)	GLIS1 (A485T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604139	NM_001367484.1(GLIS1):c.1349G>A (p.Arg450Gln)	GLIS1 (R458Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250872	NM_001367484.1(GLIS1):c.1295C>T (p.Ser432Leu)	GLIS1 (S257L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791795	NM_001367484.1(GLIS1):c.1244A>G (p.Tyr415Cys)	GLIS1 (Y240C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2292541	NM_001367484.1(GLIS1):c.1241G>A (p.Arg414His)	GLIS1 (R414H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370352	NM_001367484.1(GLIS1):c.1240C>G (p.Arg414Gly)	GLIS1 (R414G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602518	NM_001367484.1(GLIS1):c.1204G>A (p.Glu402Lys)	GLIS1 (E227K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591619	NM_001367484.1(GLIS1):c.1196G>A (p.Arg399His)	GLIS1 (R224H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480236	NM_001367484.1(GLIS1):c.1151A>G (p.Gln384Arg)	GLIS1 (Q209R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218788	NM_001367484.1(GLIS1):c.1142A>G (p.Tyr381Cys)	GLIS1 (Y206C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406858	NM_001367484.1(GLIS1):c.1106G>T (p.Arg369Leu)	GLIS1 (R194L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336547	NM_001367484.1(GLIS1):c.1105C>T (p.Arg369Trp)	GLIS1 (R194W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478826	NM_001367484.1(GLIS1):c.1102G>T (p.Gly368Trp)	GLIS1 (G193W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543719	NM_001367484.1(GLIS1):c.1024C>G (p.Pro342Ala)	GLIS1 (P342A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 771841	NM_001367484.1(GLIS1):c.992T>C (p.Leu331Pro)	GLIS1 (L331P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2281496	NM_001367484.1(GLIS1):c.970C>T (p.Pro324Ser)	GLIS1 (P149S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348790	NM_001367484.1(GLIS1):c.926T>C (p.Leu309Ser)	GLIS1 (L309S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302744	NM_001367484.1(GLIS1):c.887G>A (p.Arg296Gln)	GLIS1 (R296Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284651	NM_001367484.1(GLIS1):c.809C>T (p.Thr270Met)	GLIS1 (T270M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 730659	NM_001367484.1(GLIS1):c.777C>G (p.Ser259=)	GLIS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 790299	NM_001367484.1(GLIS1):c.759C>T (p.Ser253=)	GLIS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2255379	NM_001367484.1(GLIS1):c.758C>T (p.Ser253Phe)	GLIS1 (S78F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638826	NM_001367484.1(GLIS1):c.741C>T (p.Pro247=)	GLIS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2569755	NM_001367484.1(GLIS1):c.715C>T (p.Arg239Trp)	GLIS1 (R239W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620967	NM_001367484.1(GLIS1):c.700G>A (p.Glu234Lys)	GLIS1 (E59K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569763	NM_001367484.1(GLIS1):c.697C>T (p.Pro233Ser)	GLIS1 (P58S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 786804	NM_001367484.1(GLIS1):c.673G>A (p.Gly225Ser)	GLIS1 (G225S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2540407	NM_001367484.1(GLIS1):c.616C>T (p.Leu206Phe)	GLIS1 (L206F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369063	NM_001367484.1(GLIS1):c.581G>A (p.Gly194Asp)	GLIS1 (G19D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398738	NM_001367484.1(GLIS1):c.563G>A (p.Arg188Gln)	GLIS1 (R13Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599320	NM_001367484.1(GLIS1):c.550T>A (p.Ser184Thr)	GLIS1 (S9T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 1047872	GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	CYB5RL, EPS15 +49 more	Copy number loss	Abnormality of the kidney +1 more	GPathogenic
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	JUN, KANK4 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 814083	GRCh37/hg19 1p32.3(chr1:54168363-54247627)x1	GLIS1, NDC1	Copy number loss	not provided	GUncertain significance
Select item 685398	GRCh37/hg19 1p32.3(chr1:54002963-54575440)x3	DIO1, GLIS1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 443438	GRCh37/hg19 1p32.3(chr1:53370010-54017544)x3	CPT2, CZIB +8 more	Copy number gain	See cases	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394094	GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1	ACOT11, BTF3L4 +42 more	Copy number loss	See cases	GPathogenic

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Items: 63