C2677549[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1504763	NM_020041.3(SLC2A9):c.1518C>G (p.Thr506=)	SLC2A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1165550	NM_020041.3(SLC2A9):c.1420-19del	SLC2A9	Deletion (intron variant)	Hypouricemia, renal, 2 +1 more	GBenign
Select item 350196	NM_020041.3(SLC2A9):c.1413C>A (p.Phe471Leu)	SLC2A9 (F442L +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 350201	NM_020041.3(SLC2A9):c.1299C>T (p.Ile433=)	SLC2A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 350204	NM_020041.3(SLC2A9):c.1124T>C (p.Ile375Thr)	SLC2A9 (I346T +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 1151314	NM_020041.3(SLC2A9):c.1114-29CT[8]	SLC2A9	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 906925	NM_020041.3(SLC2A9):c.937G>A (p.Val313Ile)	SLC2A9 (V313I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 906926	NM_020041.3(SLC2A9):c.909C>T (p.Ser303=)	SLC2A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 350215	NM_020041.3(SLC2A9):c.844G>A (p.Val282Ile)	SLC2A9 (V253I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 350216	NM_020041.3(SLC2A9):c.843C>T (p.Asp281=)	SLC2A9	Single nucleotide variant (synonymous variant)	Hypouricemia, renal, 2	GBenign/Likely benign
Select item 1106602	NM_020041.3(SLC2A9):c.795C>T (p.Asn265=)	SLC2A9	Single nucleotide variant (synonymous variant)	Hypouricemia, renal, 2 +1 more	GLikely benign
Select item 829962	NM_020041.3(SLC2A9):c.759G>A (p.Pro253=)	SLC2A9	Single nucleotide variant (synonymous variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 1096161	NM_020041.3(SLC2A9):c.726C>T (p.Ala242=)	SLC2A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 350233	NM_020041.3(SLC2A9):c.681+13C>T	SLC2A9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 350234	NM_020041.3(SLC2A9):c.666C>T (p.Pro222=)	SLC2A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1017579	NM_020041.3(SLC2A9):c.538G>A (p.Val180Ile)	SLC2A9 (V151I +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2 +1 more	GUncertain significance
Select item 350237	NM_020041.3(SLC2A9):c.375G>A (p.Thr125=)	SLC2A9, SLC2A9-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 217421	NM_020041.3(SLC2A9):c.374C>T (p.Thr125Met)	SLC2A9-AS1, SLC2A9 (T125M +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2	GLikely pathogenic
Select item 350238	NM_020041.3(SLC2A9):c.354dup (p.Ile119fs)	SLC2A9, SLC2A9-AS1 (I90fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 350239	NM_020041.3(SLC2A9):c.351C>T (p.Phe117=)	SLC2A9, SLC2A9-AS1	Single nucleotide variant (synonymous variant)	Hypouricemia, renal, 2 +1 more	GBenign
Select item 347002	NM_020041.3(SLC2A9):c.249+11G>T	LOC129992244, SLC2A9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 217418	NM_020041.3(SLC2A9):c.224T>G (p.Leu75Arg)	SLC2A9 (L75R +1 more)	Single nucleotide variant (missense variant)	SLC2A9-related disorder +1 more	GLikely pathogenic
Select item 347005	NM_020041.3(SLC2A9):c.150+9G>A	SLC2A9	Single nucleotide variant (intron variant)	Hypouricemia, renal, 2 +1 more	GBenign/Likely benign
Select item 725274	NM_020041.3(SLC2A9):c.123T>C (p.Ser41=)	SLC2A9	Single nucleotide variant (synonymous variant +1 more)	Hypouricemia, renal, 2 +2 more	GBenign
Select item 860002	NM_020041.3(SLC2A9):c.45_50dup (p.Pro16_Leu17dup)	SLC2A9	Duplication (inframe_insertion +1 more)	Hypouricemia, renal, 2 +1 more	GUncertain significance
Select item 899982	NM_020041.3(SLC2A9):c.50T>G (p.Leu17Arg)	SLC2A9 (L17R)	Single nucleotide variant (missense variant +1 more)	Hypouricemia, renal, 2	GUncertain significance
Select item 1109344	NM_020041.3(SLC2A9):c.30G>A (p.Lys10=)	SLC2A9	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign

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Items: 27