SLC2A11[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59279	GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3	LOC130067034, LOC130067035 +535 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 147737	GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1	AIFM3, BCR +265 more	Copy number loss	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149700	GRCh38/hg38 22q11.21-11.23(chr22:21207181-24247140)x3	BCR, C22orf15 +229 more	Copy number gain	See cases	GUncertain significance
Select item 59252	GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)x1	BCR, C22orf15 +223 more	Copy number loss	See cases	GPathogenic
Select item 148615	GRCh38/hg38 22q11.21-11.23(chr22:21454661-24247140)x1	BCR, C22orf15 +223 more	Copy number loss	See cases	GPathogenic
Select item 59264	GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1	BCR, C22orf15 +222 more	Copy number loss	See cases	GPathogenic
Select item 59267	GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1	BCR, C22orf15 +227 more	Copy number loss	See cases	GPathogenic
Select item 545272	Single allele	DDTL, DERL3 +164 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 155683	GRCh38/hg38 22q11.22-11.23(chr22:22655333-24647020)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 154068	GRCh38/hg38 22q11.22-11.23(chr22:22655333-24630890)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 153611	GRCh38/hg38 22q11.22-11.23(chr22:22655333-24663664)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 149196	GRCh38/hg38 22q11.22-11.23(chr22:22660239-24596054)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 148729	GRCh38/hg38 22q11.22-11.23(chr22:22660239-24600238)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 148336	GRCh38/hg38 22q11.22-11.23(chr22:22660239-24644628)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 160821	GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3	ADORA2A, ADORA2A-AS1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 33061	GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3	ADORA2A, ADORA2A-AS1 +160 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 146821	GRCh38/hg38 22q11.22-11.23(chr22:22669599-24670517)x3	DRICH1, FAM230I +162 more	Copy number gain	See cases	GUncertain significance
Select item 59329	GRCh38/hg38 22q11.22-11.23(chr22:22686122-24577664)x3	IGLV3-22, IGLV3-25 +160 more	Copy number gain	See cases	GUncertain significance
Select item 59330	GRCh38/hg38 22q11.22-11.23(chr22:22703701-24669609)x3	ADORA2A, ADORA2A-AS1 +157 more	Copy number gain	See cases	GUncertain significance
Select item 155476	GRCh38/hg38 22q11.22-11.23(chr22:22920775-24606692)x3	ADORA2A, ADORA2A-AS1 +124 more	Copy number gain	See cases	GUncertain significance
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 59331	GRCh38/hg38 22q11.23(chr22:23285152-24723136)x3	ADORA2A, ADORA2A-AS1 +84 more	Copy number gain	See cases	GUncertain significance
Select item 153399	GRCh38/hg38 22q11.23(chr22:23308686-24647020)x3	ADORA2A, ADORA2A-AS1 +81 more	Copy number gain	See cases	GUncertain significance
Select item 155495	GRCh38/hg38 22q11.23(chr22:23310399-24643051)x3	ADORA2A, ADORA2A-AS1 +81 more	Copy number gain	See cases	GLikely benign
Select item 150614	GRCh38/hg38 22q11.23(chr22:23311976-24669609)x3	ADORA2A, ADORA2A-AS1 +80 more	Copy number gain	See cases	GUncertain significance
Select item 148933	GRCh38/hg38 22q11.23(chr22:23311976-24600238)x3	LOC130067094, LOC130067095 +80 more	Copy number gain	See cases	GUncertain significance
Select item 148633	GRCh38/hg38 22q11.23(chr22:23311976-24644628)x3	ADORA2A, ADORA2A-AS1 +80 more	Copy number gain	See cases	GUncertain significance
Select item 545275	Single allele	DDT, C22orf15 +78 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545274	Single allele	LRRC75B, MIF +78 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 59341	GRCh38/hg38 22q11.23(chr22:23338443-24577664)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 59340	GRCh38/hg38 22q11.23(chr22:23338443-24610403)x3	ADORA2A, ADORA2A-AS1 +76 more	Copy number gain	See cases	GUncertain significance
Select item 155560	GRCh38/hg38 22q11.23(chr22:23348201-24647020)x3	LOC130067120, LOC130067121 +76 more	Copy number gain	See cases	GUncertain significance
Select item 59342	GRCh38/hg38 22q11.23(chr22:23354221-24541945)x3	ADORA2A, ADORA2A-AS1 +70 more	Copy number gain	See cases	GUncertain significance
Select item 59343	GRCh38/hg38 22q11.23(chr22:23369950-24669609)x3	ADORA2A, ADORA2A-AS1 +76 more	Copy number gain	See cases	GUncertain significance
Select item 160934	GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 33448	GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 59346	GRCh38/hg38 22q11.23(chr22:23414627-24563859)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 1213705	NC_000022.11:g.23774226_23859697dup	DERL3, LOC111721701 +3 more	Duplication	Intellectual disability, autosomal dominant 15	GUncertain significance
Select item 148575	GRCh38/hg38 22q11.23(chr22:23787850-23954973)x3	DERL3, LOC111721701 +5 more	Copy number gain	See cases	GUncertain significance
Select item 148096	GRCh38/hg38 22q11.23(chr22:23804407-24669609)x3	ADORA2A, ADORA2A-AS1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 145847	GRCh38/hg38 22q11.23(chr22:23859833-23930947)x3	LOC112694770, MIF +2 more	Copy number gain	See cases	GLikely benign
Select item 2324555	NM_001024939.4(SLC2A11):c.56C>A (p.Thr19Asn)	SLC2A11 (T23N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164092	NM_001024939.4(SLC2A11):c.89A>T (p.Gln30Leu)	SLC2A11 (Q30L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319438	NM_001024939.4(SLC2A11):c.164C>T (p.Ala55Val)	SLC2A11 (A59V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228530	NM_001024939.4(SLC2A11):c.166C>T (p.Arg56Cys)	SLC2A11 (R53C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164095	NM_001024939.4(SLC2A11):c.205A>G (p.Met69Val)	SLC2A11 (M69V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3319440	NM_001024939.4(SLC2A11):c.211T>G (p.Ser71Ala)	SLC2A11 (S75A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339336	NM_001024939.4(SLC2A11):c.220G>A (p.Val74Met)	SLC2A11 (V74M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164096	NM_001024939.4(SLC2A11):c.298T>G (p.Ser100Ala)	SLC2A11 (S104A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616236	NM_001024939.4(SLC2A11):c.325G>A (p.Val109Met)	SLC2A11 (V113M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207177	NM_001024939.4(SLC2A11):c.368C>T (p.Ser123Phe)	SLC2A11 (S120F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211978	NM_001024939.4(SLC2A11):c.464A>T (p.Lys155Met)	SLC2A11 (K155M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541771	NM_001024939.4(SLC2A11):c.501C>G (p.Ile167Met)	SLC2A11 (I164M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164097	NM_001024939.4(SLC2A11):c.563C>T (p.Pro188Leu)	SLC2A11 (P185L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351923	NM_001024939.4(SLC2A11):c.649C>T (p.Arg217Cys)	SLC2A11 (R221C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360696	NM_001024939.4(SLC2A11):c.682G>A (p.Ala228Thr)	SLC2A11 (A225T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164099	NM_001024939.4(SLC2A11):c.701G>A (p.Arg234Gln)	SLC2A11 (R238Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2351762	NM_001024939.4(SLC2A11):c.703C>T (p.Arg235Trp)	SLC2A11 (R232W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164100	NM_001024939.4(SLC2A11):c.772G>A (p.Gly258Ser)	SLC2A11 (G255S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164101	NM_001024939.4(SLC2A11):c.784C>T (p.Arg262Trp)	SLC2A11 (R262W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362638	NM_001024939.4(SLC2A11):c.787C>T (p.Arg263Cys)	SLC2A11 (R267C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164102	NM_001024939.4(SLC2A11):c.791C>T (p.Pro264Leu)	SLC2A11 (P261L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164103	NM_001024939.4(SLC2A11):c.811C>G (p.Arg271Gly)	SLC2A11 (R271G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223936	NM_001024939.4(SLC2A11):c.812G>A (p.Arg271Gln)	SLC2A11 (R275Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164104	NM_001024939.4(SLC2A11):c.860T>C (p.Met287Thr)	SLC2A11 (M284T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220483	NM_001024939.4(SLC2A11):c.890C>G (p.Ala297Gly)	SLC2A11 (A294G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618124	NM_001024939.4(SLC2A11):c.910C>T (p.Arg304Trp)	SLC2A11 (R301W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370105	NM_001024939.4(SLC2A11):c.1018C>T (p.Arg340Trp)	SLC2A11 (R337W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3164093	NM_001024939.4(SLC2A11):c.1021C>T (p.Arg341Cys)	SLC2A11 (R345C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2394354	NM_001024939.4(SLC2A11):c.1022G>A (p.Arg341His)	SLC2A11 (R341H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2463009	NM_001024939.4(SLC2A11):c.1024G>A (p.Val342Met)	SLC2A11 (V342M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2557215	NM_001024939.4(SLC2A11):c.1028T>C (p.Leu343Pro)	SLC2A11 (L347P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2376529	NM_001024939.4(SLC2A11):c.1090C>G (p.Leu364Val)	SLC2A11 (L361V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3319439	NM_001024939.4(SLC2A11):c.1147A>C (p.Ile383Leu)	SLC2A11 (I383L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488000	NM_001024939.4(SLC2A11):c.1172C>G (p.Ala391Gly)	SLC2A11 (A391G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507916	NM_001024939.4(SLC2A11):c.1247C>T (p.Ala416Val)	SLC2A11 (A413V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374566	NM_001024939.4(SLC2A11):c.1261A>T (p.Met421Leu)	SLC2A11 (M425L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270111	NM_001024939.4(SLC2A11):c.1402C>G (p.Gln468Glu)	SLC2A11 (Q465E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2379571	NM_001024939.4(SLC2A11):c.1412C>G (p.Ser471Cys)	SLC2A11 (P475A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319441	NM_001024939.4(SLC2A11):c.1469G>C (p.Ser490Thr)	SLC2A11 (S490T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148953	GRCh37/hg19 22q11.23(chr22:23702548-25008068)x3	ADORA2A, C22orf15 +25 more	Copy number gain	not provided	GUncertain significance
Select item 3148894	GRCh37/hg19 22q11.21-11.23(chr22:21804597-24629406)x3	BCR, C22orf15 +43 more	Copy number gain	not provided	GUncertain significance
Select item 3148891	GRCh37/hg19 22q11.23(chr22:23652549-25002659)x3	ADORA2A, BCR +26 more	Copy number gain	See cases	GPathogenic
Select item 2684933	GRCh37/hg19 22q11.23(chr22:23690388-25066472)x3	ADORA2A, C22orf15 +25 more	Copy number gain	not provided	GPathogenic
Select item 2672922	GRCh37/hg19 22q11.22-11.23(chr22:22989453-25019883)x3	ADORA2A, BCR +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 2580295	GRCh37/hg19 22q11.23(chr22:23658260-25114888)x3	ADORA2A, BCR +26 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 2424624	NC_000022.10:g.(?_24130008)_(24237293_?)dup	DERL3, MIF +2 more	Duplication	not provided	GUncertain significance
Select item 1808733	GRCh37/hg19 22q11.22-11.23(chr22:22953515-24995256)x3	ADORA2A, BCR +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808567	GRCh37/hg19 22q11.23(chr22:23650872-25002483)x3	ADORA2A, BCR +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808230	GRCh37/hg19 22q11.22-11.23(chr22:22997929-24995256)x3	ADORA2A, BCR +31 more	Copy number gain	not provided	GPathogenic
Select item 1807958	GRCh37/hg19 22q11.23(chr22:24134808-24271732)x3	DERL3, MIF +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807709	GRCh37/hg19 22q11.23(chr22:23650201-24992266)x3	ADORA2A, BCR +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 1704348	GRCh37/hg19 22q11.23(chr22:23652519-25059631)x3	ADORA2A, BCR +26 more	Copy number gain	Unilateral renal agenesis	GUncertain significance
Select item 1703645	GRCh37/hg19 22q11.21-11.23(chr22:21798906-25039018)	ADORA2A, BCR +50 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1442392	NC_000022.10:g.(?_23915453)_(24237293_?)del	C22orf15, CHCHD10 +10 more	Deletion	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1340764	GRCh37/hg19 22q11.21-11.23(chr22:21465661-24631791)x3	BCR, C22orf15 +45 more	Copy number gain	not provided	GPathogenic

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