C3495427[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 577091	NM_000340.2(SLC2A2):c.1489_1490delinsAA (p.Ala497Lys)	SLC2A2 (A497K +2 more)	Indel (missense variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
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 540253	NM_000340.2(SLC2A2):c.1169T>G (p.Leu390Arg)	SLC2A2 (L390R +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome +1 more	GUncertain significance
Select item 16092	NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter)	SLC2A2 (R365* +2 more)	Single nucleotide variant (nonsense)	Fanconi-Bickel syndrome +1 more	GPathogenic
Select item 513798	NM_000340.2(SLC2A2):c.1077T>C (p.Leu359=)	SLC2A2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 901739	NM_000340.2(SLC2A2):c.995C>T (p.Thr332Met)	SLC2A2 (T159M +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome +2 more	GUncertain significance
Select item 681470	NM_000340.2(SLC2A2):c.963+14C>T	SLC2A2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 16093	NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter)	SLC2A2 (R301* +2 more)	Single nucleotide variant (nonsense)	Fanconi-Bickel syndrome +1 more	GPathogenic
Select item 1397686	NM_000340.2(SLC2A2):c.866T>G (p.Val289Gly)	SLC2A2 (V116G +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome +2 more	GUncertain significance
Select item 502268	NM_000340.2(SLC2A2):c.775+1G>A	SLC2A2	Single nucleotide variant (splice donor variant)	Fanconi-Bickel syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1693879	NM_000340.2(SLC2A2):c.683G>A (p.Arg228Gln)	SLC2A2 (R109Q +2 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +2 more	GUncertain significance
Select item 16090	NM_000340.2(SLC2A2):c.589G>A (p.Val197Ile)	SLC2A2 (V197I +2 more)	Single nucleotide variant (missense variant)	Fanconi-Bickel syndrome +2 more	GUncertain significance
Select item 902647	NM_000340.2(SLC2A2):c.521T>C (p.Met174Thr)	SLC2A2 (M174T +2 more)	Single nucleotide variant (missense variant +1 more)	Fanconi-Bickel syndrome +1 more	GUncertain significance
Select item 344168	NM_000340.2(SLC2A2):c.496+6_496+7dup	SLC2A2	Duplication (intron variant)	Type 2 diabetes mellitus +2 more	GLikely benign
Select item 509357	NM_000340.2(SLC2A2):c.372-16C>T	SLC2A2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +2 more	GLikely benign
Select item 1630325	NM_000340.2(SLC2A2):c.371+19T>C	SLC2A2	Single nucleotide variant (intron variant)	Fanconi-Bickel syndrome +1 more	GLikely benign
Select item 855137	NM_000340.2(SLC2A2):c.156_181dup (p.Ile61fs)	SLC2A2 (I61fs)	Duplication (frameshift variant +2 more)	Type 2 diabetes mellitus +1 more	GPathogenic/Likely pathogenic
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 255896	NM_000340.2(SLC2A2):c.109-19A>G	SLC2A2	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign