"Genome-Nilou Lab"[submitter] AND "SLC9A3"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1168112	NM_004174.4(SLC9A3):c.2395T>C (p.Cys799Arg)	SLC9A3, SLC9A3-AS1 (C790R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1333123	NM_004174.4(SLC9A3):c.1891-37G>C	SLC9A3, SLC9A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital secretory sodium diarrhea 8 +1 more	GBenign
Select item 1185379	NM_004174.4(SLC9A3):c.1647+68dup	SLC9A3, SLC9A3-AS1	Duplication (intron variant)	Congenital secretory sodium diarrhea 8	GBenign
Select item 1333124	NM_004174.4(SLC9A3):c.1647+46T>G	SLC9A3, SLC9A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital secretory sodium diarrhea 8 +1 more	GBenign
Select item 1185380	NM_004174.4(SLC9A3):c.1517+70A>G	SLC9A3	Single nucleotide variant (intron variant)	Congenital secretory sodium diarrhea 8 +1 more	GBenign
Select item 1168113	NM_004174.4(SLC9A3):c.1443G>C (p.Gly481=)	SLC9A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1168114	NM_004174.4(SLC9A3):c.1356+10A>G	SLC9A3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 789282	NM_004174.4(SLC9A3):c.1233C>T (p.Tyr411=)	SLC9A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1185382	NM_004174.4(SLC9A3):c.514+58C>G	SLC9A3	Single nucleotide variant (intron variant)	Congenital secretory sodium diarrhea 8 +1 more	GBenign