SLC2A8[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	LOC130003073, LOC130003074 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130002603, LOC130002604 +1210 more	Copy number gain	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 57204	GRCh38/hg38 9q33.3-34.11(chr9:126081595-127781685)x1	ANGPTL2, CFAP157 +93 more	Copy number loss	See cases	GPathogenic
Select item 2659499	NM_014580.5(SLC2A8):c.18A>C (p.Pro6=)	LOC130002645, SLC2A8	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2268586	NM_014580.5(SLC2A8):c.19G>C (p.Glu7Gln)	LOC130002645, SLC2A8 (E7Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2351588	NM_014580.5(SLC2A8):c.53G>T (p.Gly18Val)	LOC130002645, SLC2A8 (G18V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2373454	NM_014580.5(SLC2A8):c.77T>C (p.Val26Ala)	LOC130002645, SLC2A8 (V26A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380018	NM_014580.5(SLC2A8):c.196G>T (p.Asp66Tyr)	LOC130002645, SLC2A8 (D66Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528557	NM_014580.5(SLC2A8):c.245C>T (p.Ala82Val)	LOC130002646, SLC2A8 (A82V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2561936	NM_014580.5(SLC2A8):c.277C>A (p.Arg93Ser)	LOC130002646, SLC2A8 (R93S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2659500	NM_014580.5(SLC2A8):c.394C>T (p.Leu132=)	SLC2A8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2297416	NM_014580.5(SLC2A8):c.452C>G (p.Pro151Arg)	SLC2A8 (P151R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2308137	NM_014580.5(SLC2A8):c.523G>C (p.Ala175Pro)	SLC2A8 (A12P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569016	NM_014580.5(SLC2A8):c.568G>A (p.Val190Met)	SLC2A8 (V190M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2659501	NM_014580.5(SLC2A8):c.578C>T (p.Ser193Phe)	SLC2A8 (S193F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2531872	NM_014580.5(SLC2A8):c.659C>T (p.Ala220Val)	SLC2A8 (A57V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 778381	NM_014580.5(SLC2A8):c.708dup (p.Ile237fs)	SLC2A8 (I74fs +1 more)	Duplication (frameshift variant)	not provided	GBenign
Select item 2474835	NM_014580.5(SLC2A8):c.725G>C (p.Ser242Thr)	SLC2A8 (S242T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402254	NM_014580.5(SLC2A8):c.743T>C (p.Leu248Pro)	SLC2A8 (L85P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605309	NM_014580.5(SLC2A8):c.758T>A (p.Ile253Asn)	SLC2A8 (I253N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372271	NM_014580.5(SLC2A8):c.809C>T (p.Ser270Leu)	SLC2A8 (S270L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390171	NM_014580.5(SLC2A8):c.860A>C (p.Lys287Thr)	SLC2A8 (K124T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559573	NM_014580.5(SLC2A8):c.952C>T (p.Arg318Trp)	SLC2A8 (R318W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2480498	NM_014580.5(SLC2A8):c.996C>A (p.Ser332Arg)	SLC2A8 (S169R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285096	NM_014580.5(SLC2A8):c.1039C>T (p.Pro347Ser)	SLC2A8 (P184S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455848	NM_014580.5(SLC2A8):c.1057G>A (p.Val353Met)	SLC2A8 (V353M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2204197	NM_014580.5(SLC2A8):c.1084C>A (p.Gln362Lys)	SLC2A8 (Q199K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542381	NM_014580.5(SLC2A8):c.1151G>A (p.Gly384Asp)	SLC2A8 (G384D +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1527560	GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795)	AK1, ANGPTL2 +29 more	Copy number loss	not specified	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1340206	GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3	AK1, ANGPTL2 +75 more	Copy number gain	not provided	GPathogenic
Select item 1056169	NC_000009.11:g.(?_129376729)_(131016993_?)del	AK1, EEIG1 +33 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 983307	GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1	AK1, ANGPTL2 +27 more	Copy number loss	Developmental and epileptic encephalopathy, 4 +1 more	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 563619	GRCh37/hg19 9q33.3-34.11(chr9:130000337-130310336)x3	GARNL3, ZNF79 +4 more	Copy number gain	not provided	GLikely benign
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	SUSD3, SVEP1 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	PPP1R26, PPP3R2 +771 more	Copy number gain	See cases	GPathogenic
Select item 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

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Items: 57