"GeneDx"[submitter] AND "SLC2A2"[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 344154	NM_000340.2(SLC2A2):c.*234C>A	SLC2A2	Single nucleotide variant (3 prime UTR variant)	Fanconi-Bickel syndrome +1 more	GBenign/Likely benign
Select item 130348	NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=)	SLC2A2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 344160	NM_000340.2(SLC2A2):c.1402C>G (p.Leu468Val)	SLC2A2 (L468V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 387979	NM_000340.2(SLC2A2):c.1251G>A (p.Pro417=)	SLC2A2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 16092	NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter)	SLC2A2 (R365* +2 more)	Single nucleotide variant (nonsense)	Fanconi-Bickel syndrome +2 more	GPathogenic
Select item 199012	NM_000340.2(SLC2A2):c.1087G>T (p.Ala363Ser)	SLC2A2 (A363S +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome +1 more	GConflicting classifications of pathogenicity
Select item 513798	NM_000340.2(SLC2A2):c.1077T>C (p.Leu359=)	SLC2A2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +2 more	GLikely benign
Select item 255895	NM_000340.2(SLC2A2):c.1069-9T>C	SLC2A2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1286086	NM_000340.2(SLC2A2):c.1068+344C>G	SLC2A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2430735	NM_000340.2(SLC2A2):c.1068+1G>A	SLC2A2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 388886	NM_000340.2(SLC2A2):c.1038C>T (p.Gly346=)	SLC2A2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2506709	NM_000340.2(SLC2A2):c.980C>T (p.Thr327Ile)	SLC2A2 (T154I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443617	NM_000340.2(SLC2A2):c.966T>G (p.Ile322Met)	SLC2A2 (I149M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224921	NM_000340.2(SLC2A2):c.963+241del	SLC2A2	Deletion (intron variant)	not provided	GBenign
Select item 1269623	NM_000340.2(SLC2A2):c.963+152C>T	SLC2A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 510063	NM_000340.2(SLC2A2):c.963+18C>T	SLC2A2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 681470	NM_000340.2(SLC2A2):c.963+14C>T	SLC2A2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +2 more	GBenign/Likely benign
Select item 514600	NM_000340.2(SLC2A2):c.852G>A (p.Ser284=)	SLC2A2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 255900	NM_000340.2(SLC2A2):c.776-15C>T	SLC2A2	Single nucleotide variant (intron variant)	Fanconi-Bickel syndrome +3 more	GBenign
Select item 1183692	NM_000340.2(SLC2A2):c.775+68T>C	SLC2A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224205	NM_000340.2(SLC2A2):c.775+64G>A	SLC2A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255899	NM_000340.2(SLC2A2):c.661C>T (p.Leu221=)	SLC2A2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1312002	NM_000340.2(SLC2A2):c.620G>A (p.Gly207Asp)	SLC2A2 (G207D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1292091	NM_000340.2(SLC2A2):c.613-142A>G	SLC2A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230960	NM_000340.2(SLC2A2):c.613-204dup	SLC2A2	Duplication (intron variant)	not provided	GBenign
Select item 1180919	NM_000340.2(SLC2A2):c.612+208G>A	SLC2A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292088	NM_000340.2(SLC2A2):c.612+54A>G	SLC2A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 130351	NM_000340.2(SLC2A2):c.594G>A (p.Thr198=)	SLC2A2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 507994	NM_000340.2(SLC2A2):c.588C>T (p.Ile196=)	SLC2A2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 850431	NM_000340.2(SLC2A2):c.497-2A>G	SLC2A2	Single nucleotide variant (splice acceptor variant)	Fanconi-Bickel syndrome +1 more	GPathogenic
Select item 1264817	NM_000340.2(SLC2A2):c.496+89C>T	SLC2A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1327173	NM_000340.2(SLC2A2):c.496+45_496+46dup	SLC2A2	Duplication (intron variant)	not provided	GLikely benign
Select item 1691176	NM_000340.2(SLC2A2):c.496+8AC[24]	SLC2A2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1326565	NM_000340.2(SLC2A2):c.496+8AC[23]	SLC2A2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1292164	NM_000340.2(SLC2A2):c.496+8AC[21]	SLC2A2	Microsatellite (intron variant)	not provided	GBenign
Select item 1277033	NM_000340.2(SLC2A2):c.496+8AC[22]	SLC2A2	Microsatellite (intron variant)	not provided	GBenign
Select item 1246907	NM_000340.2(SLC2A2):c.496+8AC[20]	SLC2A2	Microsatellite (intron variant)	not provided	GBenign
Select item 1292150	NM_000340.2(SLC2A2):c.496+8AC[18]	SLC2A2	Microsatellite (intron variant)	not provided	GBenign
Select item 1217742	NM_000340.2(SLC2A2):c.496+8AC[17]	SLC2A2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1268241	NM_000340.2(SLC2A2):c.496+44A>C	SLC2A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285771	NM_000340.2(SLC2A2):c.496+40_496+42del	SLC2A2	Deletion (intron variant)	not provided	GBenign
Select item 344168	NM_000340.2(SLC2A2):c.496+6_496+7dup	SLC2A2	Duplication (intron variant)	not specified +2 more	GLikely benign
Select item 130350	NM_000340.2(SLC2A2):c.496+8A>T	SLC2A2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 509357	NM_000340.2(SLC2A2):c.372-16C>T	SLC2A2	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 130349	NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile)	SLC2A2 (T110I)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign
Select item 255898	NM_000340.2(SLC2A2):c.301G>A (p.Val101Ile)	SLC2A2 (V101I)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 385035	NM_000340.2(SLC2A2):c.240T>C (p.Pro80=)	SLC2A2	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 516406	NM_000340.2(SLC2A2):c.203C>T (p.Pro68Leu)	SLC2A2 (P68L)	Single nucleotide variant (missense variant +2 more)	Fanconi-Bickel syndrome +3 more	GBenign/Likely benign
Select item 389405	NM_000340.2(SLC2A2):c.162A>G (p.Lys54=)	SLC2A2	Single nucleotide variant (synonymous variant +2 more)	Fanconi-Bickel syndrome +1 more	GLikely benign
Select item 426982	NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln)	SLC2A2 (R53Q)	Single nucleotide variant (missense variant +2 more)	Type 2 diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 1232416	NM_000340.2(SLC2A2):c.109-79C>T	SLC2A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264440	NM_000340.2(SLC2A2):c.108+184_108+185insA	SLC2A2	Insertion (intron variant)	not provided	GBenign
Select item 1238684	NM_000340.2(SLC2A2):c.108+128C>T	SLC2A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1301243	NM_000340.2(SLC2A2):c.16-121C>T	SLC2A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250944	NM_000340.2(SLC2A2):c.16-296T>A	SLC2A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242657	NM_000340.2(SLC2A2):c.15+84G>A	SLC2A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1168130	NC_000003.12:g.171027026T>C	SLC2A2	Single nucleotide variant	not provided +1 more	GBenign
Select item 1170125	NC_000003.12:g.171027104G>A	SLC2A2	Single nucleotide variant	Fanconi-Bickel syndrome +1 more	GBenign
Select item 1170126	NC_000003.12:g.171027131T>G	SLC2A2	Single nucleotide variant	Fanconi-Bickel syndrome +1 more	GBenign
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 63