"SLC5A9-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3034016	NM_001011547.3(SLC5A9):c.45C>T (p.Asp15=)	SLC5A9	Single nucleotide variant (synonymous variant)	SLC5A9-related disorder	GLikely benign
Select item 1236890	NM_001011547.3(SLC5A9):c.307G>A (p.Gly103Arg)	SLC5A9 (G103R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3047851	NM_001011547.3(SLC5A9):c.312C>G (p.Gly104=)	SLC5A9	Single nucleotide variant (synonymous variant)	SLC5A9-related disorder	GLikely benign
Select item 3050515	NM_001011547.3(SLC5A9):c.349C>T (p.Leu117=)	SLC5A9	Single nucleotide variant (synonymous variant)	SLC5A9-related disorder	GLikely benign
Select item 3037507	NM_001011547.3(SLC5A9):c.370G>A (p.Val124Ile)	SLC5A9 (V124I +1 more)	Single nucleotide variant (missense variant)	SLC5A9-related disorder	GBenign
Select item 3060286	NM_001011547.3(SLC5A9):c.454G>A (p.Val152Met)	SLC5A9 (V152M +1 more)	Single nucleotide variant (missense variant)	SLC5A9-related disorder	GBenign
Select item 3053604	NM_001011547.3(SLC5A9):c.545T>C (p.Leu182Ser)	SLC5A9 (L182S +1 more)	Single nucleotide variant (missense variant)	SLC5A9-related disorder	GBenign
Select item 3055696	NM_001011547.3(SLC5A9):c.620T>C (p.Met207Thr)	SLC5A9 (M207T +1 more)	Single nucleotide variant (missense variant)	SLC5A9-related disorder	GBenign
Select item 3043633	NM_001011547.3(SLC5A9):c.671C>T (p.Ala224Val)	SLC5A9 (A224V +1 more)	Single nucleotide variant (missense variant)	SLC5A9-related disorder	GBenign
Select item 3041526	NM_001011547.3(SLC5A9):c.691+3A>G	SLC5A9	Single nucleotide variant (intron variant)	SLC5A9-related disorder	GLikely benign
Select item 3059966	NM_001011547.3(SLC5A9):c.807T>G (p.Ile269Met)	SLC5A9 (I269M +1 more)	Single nucleotide variant (missense variant)	SLC5A9-related disorder	GBenign
Select item 3055744	NM_001011547.3(SLC5A9):c.825C>T (p.Ser275=)	SLC5A9	Single nucleotide variant (synonymous variant)	SLC5A9-related disorder	GBenign
Select item 3056846	NM_001011547.3(SLC5A9):c.855C>T (p.Phe285=)	SLC5A9	Single nucleotide variant (synonymous variant)	SLC5A9-related disorder	GBenign
Select item 3037890	NM_001011547.3(SLC5A9):c.921G>A (p.Ser307=)	SLC5A9	Single nucleotide variant (synonymous variant)	SLC5A9-related disorder	GBenign
Select item 3060810	NM_001011547.3(SLC5A9):c.1304T>G (p.Val435Gly)	SLC5A9 (V435G +1 more)	Single nucleotide variant (missense variant)	SLC5A9-related disorder	GBenign
Select item 3057528	NM_001011547.3(SLC5A9):c.1535C>T (p.Ala512Val)	SLC5A9 (A512V +1 more)	Single nucleotide variant (missense variant)	SLC5A9-related disorder	GLikely benign
Select item 3034940	NM_001011547.3(SLC5A9):c.1686C>A (p.Arg562=)	SLC5A9	Single nucleotide variant (synonymous variant)	SLC5A9-related disorder	GLikely benign
Select item 3049347	NM_001011547.3(SLC5A9):c.1751C>T (p.Pro584Leu)	SLC5A9 (P584L +1 more)	Single nucleotide variant (missense variant)	SLC5A9-related disorder	GLikely benign
Select item 3049807	NM_001011547.3(SLC5A9):c.1767G>A (p.Arg589=)	SLC5A9	Single nucleotide variant (synonymous variant)	SLC5A9-related disorder	GLikely benign
Select item 3051718	NM_001011547.3(SLC5A9):c.1773C>T (p.Ala591=)	SLC5A9	Single nucleotide variant (synonymous variant)	SLC5A9-related disorder	GLikely benign
Select item 3060378	NM_001011547.3(SLC5A9):c.1777G>T (p.Glu593Ter)	SLC5A9 (E593* +1 more)	Single nucleotide variant (nonsense)	SLC5A9-related disorder	GBenign
Select item 3060237	NM_001011547.3(SLC5A9):c.1799C>T (p.Ala600Val)	SLC5A9 (A600V +1 more)	Single nucleotide variant (missense variant)	SLC5A9-related disorder	GBenign
Select item 3059831	NM_001011547.3(SLC5A9):c.1827G>A (p.Glu609=)	SLC5A9	Single nucleotide variant (synonymous variant)	SLC5A9-related disorder	GBenign
Select item 3037694	NM_001011547.3(SLC5A9):c.1837+10G>A	SLC5A9	Single nucleotide variant (intron variant)	SLC5A9-related disorder	GLikely benign
Select item 3055412	NM_001011547.3(SLC5A9):c.1931C>A (p.Ala644Glu)	SLC5A9 (A644E +1 more)	Single nucleotide variant (missense variant)	SLC5A9-related disorder	GBenign
Select item 3056161	NM_001011547.3(SLC5A9):c.2037T>C (p.Tyr679=)	SLC5A9	Single nucleotide variant (synonymous variant)	SLC5A9-related disorder	GBenign

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Items: 26