"PreventionGenetics, part of Exact Sciences"[submitter] AND "SLC26A3"[ - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 718251	NM_000111.3(SLC26A3):c.2169G>C (p.Lys723Asn)	SLC26A3 (K723N)	Single nucleotide variant (missense variant)	SLC26A3-related disorder +2 more	GLikely benign
Select item 1534568	NM_000111.3(SLC26A3):c.1905T>C (p.Leu635=)	SLC26A3	Single nucleotide variant (synonymous variant)	SLC26A3-related disorder +1 more	GLikely benign
Select item 2420217	NM_000111.3(SLC26A3):c.1683C>G (p.Gly561=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3029972	NM_000111.3(SLC26A3):c.1677+1G>A	SLC26A3	Single nucleotide variant (splice donor variant)	SLC26A3-related disorder	GLikely pathogenic
Select item 1618568	NM_000111.3(SLC26A3):c.1623A>G (p.Pro541=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2635411	NM_000111.3(SLC26A3):c.1416G>A (p.Trp472Ter)	SLC26A3 (W472*)	Single nucleotide variant (nonsense)	SLC26A3-related disorder	GLikely pathogenic
Select item 789518	NM_000111.3(SLC26A3):c.1314C>T (p.Ser438=)	SLC26A3	Single nucleotide variant (synonymous variant)	Congenital secretory diarrhea, chloride type +2 more	GBenign/Likely benign
Select item 711005	NM_000111.3(SLC26A3):c.1273G>A (p.Val425Ile)	SLC26A3 (V425I)	Single nucleotide variant (missense variant)	SLC26A3-related disorder +2 more	GLikely benign
Select item 910198	NM_000111.3(SLC26A3):c.1234-9T>A	SLC26A3	Single nucleotide variant (intron variant)	SLC26A3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2635462	NM_000111.3(SLC26A3):c.1190T>G (p.Leu397Arg)	SLC26A3 (L397R)	Single nucleotide variant (missense variant)	SLC26A3-related disorder	GUncertain significance
Select item 911074	NM_000111.3(SLC26A3):c.915C>T (p.Tyr305=)	SLC26A3	Single nucleotide variant (synonymous variant)	SLC26A3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 358550	NM_000111.3(SLC26A3):c.889-6T>C	SLC26A3	Single nucleotide variant (intron variant)	Congenital secretory diarrhea, chloride type +2 more	GBenign/Likely benign
Select item 1071195	NM_000111.3(SLC26A3):c.614del (p.Leu205fs)	SLC26A3 (L205fs)	Deletion (frameshift variant)	SLC26A3-related disorder +1 more	GPathogenic
Select item 56005	NM_000111.3(SLC26A3):c.571-2A>G	SLC26A3	Single nucleotide variant (splice acceptor variant)	SLC26A3-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2972471	NM_000111.3(SLC26A3):c.555T>G (p.Leu185=)	SLC26A3	Single nucleotide variant (synonymous variant)	SLC26A3-related disorder +1 more	GLikely benign
Select item 1472387	NM_000111.3(SLC26A3):c.548C>T (p.Thr183Ile)	SLC26A3 (T183I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1601173	NM_000111.3(SLC26A3):c.531G>A (p.Ala177=)	SLC26A3	Single nucleotide variant (synonymous variant)	SLC26A3-related disorder +1 more	GBenign/Likely benign
Select item 358560	NM_000111.3(SLC26A3):c.203G>A (p.Arg68Gln)	SLC26A3 (R68Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign