ClinVar for Gene (Select 66035) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2580295	GRCh37/hg19 22q11.23(chr22:23658260-25114888)x3	ADORA2A, BCR +26 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
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 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 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 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 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 2424624	NC_000022.10:g.(?_24130008)_(24237293_?)dup	DERL3, MIF +2 more	Duplication	not provided	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
Select item 1340018	GRCh37/hg19 22q11.23(chr22:24134356-24271818)x3	DERL3, MIF +2 more	Copy number gain	not provided	GUncertain significance
Select item 1330169	GRCh37/hg19 22q11.22-11.23(chr22:23166334-24237343)x3	BCR, C22orf15 +16 more	Copy number gain	Generalized-onset seizure +1 more	GUncertain significance
Select item 1328446	GRCh37/hg19 22q11.23(chr22:23689960-25000632)x3	DDT, ADORA2A +25 more	Copy number gain	not provided	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 1004379	NC_000022.10:g.(?_23915453)_(24921762_?)dup	DERL3, DRICH1 +21 more	Duplication	not provided	GUncertain significance
Select item 997818	Single allele	DERL3, DRICH1 +25 more	Duplication	Epilepsy +1 more	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 983159	GRCh37/hg19 22q11.23(chr22:23720181-25066484)x3	GGT5, ZNF70 +25 more	Copy number gain	See cases	GUncertain significance
Select item 981206	GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3	RTN4R, SCARF2 +124 more	Copy number gain	Cat eye syndrome +1 more	GPathogenic
Select item 979600	GRCh37/hg19 22q11.23(chr22:23650873-25043046)x3	LRRC75B, MIF +26 more	Copy number gain	not provided	GPathogenic
Select item 979598	GRCh37/hg19 22q11.22-11.23(chr22:23258368-25059827)x3	DDTL, GUCD1 +29 more	Copy number gain	not provided	GPathogenic
Select item 830686	NC_000022.10:g.(?_24129357)_(24836024_?)del	ADORA2A, CABIN1 +12 more	Deletion	not provided	GPathogenic
Select item 830423	NC_000022.10:g.(?_24129357)_(24836024_?)dup	DERL3, GGT5 +12 more	Duplication	not provided	GUncertain significance
Select item 816211	GRCh37/hg19 22q11.23(chr22:23650871-25066472)x3	ADORA2A, DDTL +26 more	Copy number gain	not provided	GPathogenic
Select item 816209	GRCh37/hg19 22q11.22-11.23(chr22:22953514-25002483)x3	GSTT1, CHCHD10 +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 816203	GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3	ADORA2A, AIFM3 +66 more	Copy number gain	not provided	GPathogenic
Select item 816197	GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3	HIC2, HIRA +133 more	Copy number gain	not provided	GPathogenic
Select item 689054	GRCh37/hg19 22q11.23(chr22:24171304-24258403)x3	DERL3, MIF +2 more	Copy number gain	not provided	GUncertain significance
Select item 688980	GRCh37/hg19 22q11.23(chr22:23698818-25042987)x3	ADORA2A, C22orf15 +25 more	Copy number gain	not provided	GPathogenic
Select item 688543	GRCh37/hg19 22q11.23(chr22:23650200-25066472)x3	ADORA2A, BCR +26 more	Copy number gain	not provided	GPathogenic
Select item 688127	GRCh37/hg19 22q11.23(chr22:24134356-24354513)x3	DDT, DDTL +6 more	Copy number gain	not provided	GUncertain significance
Select item 686931	GRCh37/hg19 22q11.22-11.23(chr22:22962196-25059631)x3	SMARCB1, SNRPD3 +32 more	Copy number gain	not provided	GPathogenic
Select item 685920	GRCh37/hg19 22q11.22-11.23(chr22:22962195-25002659)x3	ADORA2A, BCR +32 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 685223	GRCh37/hg19 22q11.23(chr22:24173393-24261143)x3	DERL3, MIF +2 more	Copy number gain	not provided	GUncertain significance
Select item 684928	GRCh37/hg19 22q11.23(chr22:23650871-25066472)x3	GSTT2, IGLL1 +26 more	Copy number gain	not provided	GPathogenic
Select item 684901	GRCh37/hg19 22q11.22-11.23(chr22:22962196-25145601)x3	GUCD1, IGLC1 +33 more	Copy number gain	not provided	GPathogenic
Select item 684543	Single allele	DDTL, DERL3 +4 more	Duplication	not provided	Gnot provided
Select item 636297	GRCh37/hg19 22q11.23(chr22:23652517-25002659)x3	ADORA2A, BCR +26 more	Copy number gain	22q11.2 distal duplication syndrome	GUncertain significance
Select item 635766	GRCh37/hg19 22q11.22-11.23(chr22:22998284-25119103)x3	CHCHD10, CABIN1 +33 more	Copy number gain	Global developmental delay	GLikely pathogenic
Select item 625627	GRCh37/hg19 22q11.23(chr22:23653987-25158391)	ADORA2A, BCR +27 more	Copy number gain	not provided	GLikely pathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 565045	GRCh37/hg19 22q11.21-11.23(chr22:21465661-24885806)x1	ADORA2A, BCR +47 more	Copy number loss	not provided	GPathogenic
Select item 565043	GRCh37/hg19 22q11.21-11.23(chr22:21465661-24653491)x1	BCR, C22orf15 +45 more	Copy number loss	not provided	GPathogenic
Select item 565031	GRCh37/hg19 22q11.22-11.23(chr22:22951048-25156289)x3	DDT, ZNF70 +33 more	Copy number gain	not provided	GLikely pathogenic
Select item 565029	GRCh37/hg19 22q11.22-11.23(chr22:22945889-25059631)x3	GSTT2B, GNAZ +32 more	Copy number gain	not provided	GPathogenic
Select item 565019	GRCh37/hg19 22q11.23(chr22:23650871-25002659)x3	ADORA2A, UPB1 +26 more	Copy number gain	not provided	GLikely pathogenic
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 545272	Single allele	DDTL, DERL3 +164 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 523242	GRCh37/hg19 22q11.23(chr22:23720171-25065576)	ADORA2A, C22orf15 +25 more	Copy number gain	Cerebellar ataxia	GUncertain significance
Select item 443888	GRCh37/hg19 22q11.23(chr22:23690387-25066472)x3	ADORA2A, C22orf15 +25 more	Copy number gain	See cases	GUncertain significance
Select item 443476	GRCh37/hg19 22q11.23(chr22:23653979-25066472)x3	ADORA2A, BCR +26 more	Copy number gain	See cases	GUncertain significance
Select item 443145	GRCh37/hg19 22q11.23(chr22:24174144-24261143)x3	DERL3, MIF +2 more	Copy number gain	See cases	GUncertain significance
Select item 443019	GRCh37/hg19 22q11.23(chr22:24134807-24271732)x3	DERL3, MIF +2 more	Copy number gain	See cases	GUncertain significance

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