"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SLC5A1"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 341234	NM_000343.4(SLC5A1):c.6C>T (p.Asp2=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GBenign
Select item 1654393	NM_000343.4(SLC5A1):c.30C>T (p.Thr10=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 1391045	NM_000343.4(SLC5A1):c.43C>T (p.Arg15Trp)	SLC5A1 (R15W)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 903162	NM_000343.4(SLC5A1):c.70C>T (p.Arg24Cys)	SLC5A1 (R24C)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 1397738	NM_000343.4(SLC5A1):c.89C>T (p.Ser30Phe)	SLC5A1 (S30F)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 341235	NM_000343.4(SLC5A1):c.101T>C (p.Ile34Thr)	SLC5A1 (I34T)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 1396323	NM_000343.4(SLC5A1):c.154C>T (p.Arg52Cys)	SLC5A1 (R52C)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 1402996	NM_000343.4(SLC5A1):c.182C>T (p.Ala61Val)	SLC5A1 (A61V)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 1426486	NM_000343.4(SLC5A1):c.188G>A (p.Arg63Gln)	SLC5A1 (R63Q)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 1566747	NM_000343.4(SLC5A1):c.208-8G>A	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 1005454	NM_000343.4(SLC5A1):c.344T>G (p.Leu115Arg)	SLC5A1 (L115R)	Single nucleotide variant (missense variant +1 more)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 1605633	NM_000343.4(SLC5A1):c.373-7del	SLC5A1	Deletion (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 1466660	NM_000343.4(SLC5A1):c.404G>A (p.Arg135Gln)	SLC5A1 (R135Q +1 more)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 1578270	NM_000343.4(SLC5A1):c.584-6G>A	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 1346150	NM_000343.4(SLC5A1):c.609G>A (p.Thr203=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GConflicting classifications of pathogenicity
Select item 521666	NM_000343.4(SLC5A1):c.685_696del (p.Tyr229_Phe232del)	SLC5A1	Deletion (inframe_deletion)	SLC5A1-related disorder +2 more	GUncertain significance
Select item 803681	NM_000343.4(SLC5A1):c.799C>T (p.Arg267Ter)	SLC5A1 (R140* +1 more)	Single nucleotide variant (nonsense)	SLC5A1-related disorder +1 more	GPathogenic
Select item 341244	NM_000343.4(SLC5A1):c.862T>G (p.Leu288Val)	SLC5A1 (L288V +1 more)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption +1 more	GUncertain significance
Select item 1629329	NM_000343.4(SLC5A1):c.886-10T>C	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 1403705	NM_000343.4(SLC5A1):c.928G>A (p.Val310Met)	SLC5A1 (V183M +1 more)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 900678	NM_000343.4(SLC5A1):c.938G>A (p.Gly313Asp)	SLC5A1 (G313D +1 more)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 1367225	NM_000343.4(SLC5A1):c.1054G>A (p.Glu352Lys)	SLC5A1 (E225K +1 more)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 1523580	NM_000343.4(SLC5A1):c.1066G>A (p.Gly356Ser)	SLC5A1 (G229S +1 more)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 341247	NM_000343.4(SLC5A1):c.1092C>T (p.Ile364=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GBenign/Likely benign
Select item 1378522	NM_000343.4(SLC5A1):c.1120A>G (p.Met374Val)	SLC5A1 (M374V +1 more)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 902360	NM_000343.4(SLC5A1):c.1200C>T (p.Ser400=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GBenign/Likely benign
Select item 1447489	NM_000343.4(SLC5A1):c.1241G>A (p.Arg414His)	SLC5A1 (R287H +1 more)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption +1 more	GUncertain significance
Select item 1442825	NM_000343.4(SLC5A1):c.1276G>A (p.Gly426Arg)	SLC5A1 (G299R +1 more)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 341256	NM_000343.4(SLC5A1):c.1556C>T (p.Thr519Met)	SLC5A1 (T519M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1407678	NM_000343.4(SLC5A1):c.1642A>T (p.Thr548Ser)	SLC5A1 (T421S +1 more)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 1362674	NM_000343.4(SLC5A1):c.1693A>G (p.Asn565Asp)	SLC5A1 (N438D +1 more)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 731145	NM_000343.4(SLC5A1):c.1752T>G (p.Pro584=)	SLC5A1	Single nucleotide variant (synonymous variant)	Congenital glucose-galactose malabsorption	GLikely benign
Select item 1164763	NM_000343.4(SLC5A1):c.1772-6G>A	SLC5A1	Single nucleotide variant (intron variant)	Congenital glucose-galactose malabsorption	GBenign/Likely benign
Select item 899621	NM_000343.4(SLC5A1):c.1783C>A (p.Pro595Thr)	SLC5A1 (P468T +1 more)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 900750	NM_000343.4(SLC5A1):c.1866G>C (p.Glu622Asp)	SLC5A1 (E622D +1 more)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption +1 more	GUncertain significance
Select item 1434821	NM_000343.4(SLC5A1):c.1915C>G (p.Pro639Ala)	SLC5A1 (P639A +1 more)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption	GUncertain significance

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Items: 36