"SLC2A9-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2050846	NM_020041.3(SLC2A9):c.1215+8G>A	SLC2A9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 350208	NM_020041.3(SLC2A9):c.1046C>T (p.Pro349Leu)	SLC2A9 (P320L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 3039176	NM_020041.3(SLC2A9):c.1004T>A (p.Ile335Asn)	SLC2A9 (I306N +1 more)	Single nucleotide variant (missense variant)	SLC2A9-related disorder	GUncertain significance
Select item 2635352	NM_020041.3(SLC2A9):c.941G>A (p.Arg314His)	SLC2A9 (R285H +1 more)	Single nucleotide variant (missense variant)	SLC2A9-related disorder	GUncertain significance
Select item 350210	NM_020041.3(SLC2A9):c.899G>A (p.Arg300His)	SLC2A9 (R300H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 350218	NM_020041.3(SLC2A9):c.824C>T (p.Thr275Met)	SLC2A9 (T246M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 350219	NM_020041.3(SLC2A9):c.809T>C (p.Val270Ala)	SLC2A9 (V241A +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2 +2 more	GBenign
Select item 2628597	NM_020041.3(SLC2A9):c.681+1G>T	SLC2A9	Single nucleotide variant (splice donor variant)	SLC2A9-related disorder	GLikely pathogenic
Select item 1049499	NM_020041.3(SLC2A9):c.646G>A (p.Gly216Arg)	SLC2A9 (G187R +1 more)	Single nucleotide variant (missense variant)	SLC2A9-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1901385	NM_020041.3(SLC2A9):c.546C>T (p.Leu182=)	SLC2A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely 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 3053193	NM_020041.3(SLC2A9):c.213C>T (p.Tyr71=)	SLC2A9	Single nucleotide variant (synonymous variant)	SLC2A9-related disorder	GLikely benign
Select item 2628377	NM_020041.3(SLC2A9):c.154_155inv (p.Trp52Gln)	SLC2A9 (W23Q +1 more)	Inversion (missense variant)	SLC2A9-related disorder	GUncertain significance
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 899983	NM_020041.3(SLC2A9):c.-8T>G	SLC2A9	Single nucleotide variant (5 prime UTR variant +1 more)	Hypouricemia, renal, 2 +1 more	GBenign
Select item 2654664	NM_001001290.2(SLC2A9):c.21C>T (p.Asp7=)	SLC2A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign