"PreventionGenetics, part of Exact Sciences"[submitter] AND "SLC2A2"[g - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 255893	NM_000340.2(SLC2A2):c.*8del (p.Ter525=)	SLC2A2	Deletion (no sequence alteration)	Fanconi-Bickel syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2045779	NM_000340.2(SLC2A2):c.1506G>A (p.Lys502=)	SLC2A2	Single nucleotide variant (synonymous variant)	SLC2A2-related disorder +1 more	GLikely benign
Select item 130348	NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=)	SLC2A2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 344159	NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val)	SLC2A2 (L478V +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2075800	NM_000340.2(SLC2A2):c.1374+7A>G	SLC2A2	Single nucleotide variant (intron variant)	Fanconi-Bickel syndrome +1 more	GLikely benign
Select item 1159157	NM_000340.2(SLC2A2):c.1269G>T (p.Val423=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome +1 more	GLikely benign
Select item 387979	NM_000340.2(SLC2A2):c.1251G>A (p.Pro417=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome +2 more	GLikely benign
Select item 2191333	NM_000340.2(SLC2A2):c.1205T>C (p.Ile402Thr)	SLC2A2 (I283T +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome +1 more	GUncertain significance
Select item 738012	NM_000340.2(SLC2A2):c.1164G>A (p.Val388=)	SLC2A2	Single nucleotide variant (synonymous variant)	Fanconi-Bickel syndrome +2 more	GConflicting classifications of pathogenicity
Select item 255895	NM_000340.2(SLC2A2):c.1069-9T>C	SLC2A2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 3053470	NM_000340.2(SLC2A2):c.1029T>C (p.Ile343=)	SLC2A2	Single nucleotide variant (synonymous variant)	SLC2A2-related disorder	GLikely benign
Select item 255900	NM_000340.2(SLC2A2):c.776-15C>T	SLC2A2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +2 more	GBenign
Select item 255899	NM_000340.2(SLC2A2):c.661C>T (p.Leu221=)	SLC2A2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 130351	NM_000340.2(SLC2A2):c.594G>A (p.Thr198=)	SLC2A2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +2 more	GBenign
Select item 2631130	NM_000340.2(SLC2A2):c.557del (p.Gly186fs)	SLC2A2 (G13fs +2 more)	Deletion (frameshift variant)	SLC2A2-related disorder	GLikely pathogenic
Select item 785759	NM_000340.2(SLC2A2):c.496+10A>T	SLC2A2	Single nucleotide variant (intron variant)	Fanconi-Bickel syndrome +1 more	GLikely benign
Select item 540254	NM_000340.2(SLC2A2):c.496+7_496+8insCTCA	SLC2A2	Insertion (intron variant)	Fanconi-Bickel syndrome +2 more	GBenign/Likely benign
Select item 130350	NM_000340.2(SLC2A2):c.496+8A>T	SLC2A2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 130349	NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile)	SLC2A2 (T110I)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign
Select item 255898	NM_000340.2(SLC2A2):c.301G>A (p.Val101Ile)	SLC2A2 (V101I)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 255897	NM_000340.2(SLC2A2):c.247G>A (p.Glu83Lys)	SLC2A2 (E83K)	Single nucleotide variant (missense variant +2 more)	Type 2 diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 1664024	NM_000340.2(SLC2A2):c.216C>T (p.Tyr72=)	SLC2A2	Single nucleotide variant (synonymous variant +2 more)	Fanconi-Bickel syndrome +1 more	GBenign/Likely benign
Select item 3055251	NM_000340.2(SLC2A2):c.201G>A (p.Leu67=)	SLC2A2	Single nucleotide variant (synonymous variant +2 more)	SLC2A2-related disorder	GLikely benign
Select item 16100	NM_000340.2(SLC2A2):c.157C>T (p.Arg53Ter)	SLC2A2 (R53*)	Single nucleotide variant (nonsense +2 more)	SLC2A2-related disorder +1 more	GPathogenic
Select item 631915	NM_000340.2(SLC2A2):c.112ATA[1] (p.Ile39del)	SLC2A2 (I39del)	Microsatellite (inframe_deletion +2 more)	SLC2A2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 255896	NM_000340.2(SLC2A2):c.109-19A>G	SLC2A2	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 2629021	NM_000340.2(SLC2A2):c.30_36delinsATTTTA (p.Val11fs)	SLC2A2 (V11fs)	Indel (frameshift variant +1 more)	SLC2A2-related disorder	GLikely pathogenic
Select item 3052095	NM_000340.2(SLC2A2):c.30G>A (p.Leu10=)	SLC2A2	Single nucleotide variant (synonymous variant +1 more)	SLC2A2-related disorder	GLikely benign
Select item 2630306	NM_000340.2(SLC2A2):c.7G>T (p.Glu3Ter)	SLC2A2 (E3*)	Single nucleotide variant (nonsense +1 more)	SLC2A2-related disorder	GLikely pathogenic
Select item 255894	NM_000340.2(SLC2A2):c.-2C>A	SLC2A2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign

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Items: 30