"Genome-Nilou Lab"[submitter] AND "BSND"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 297673	NM_057176.3(BSND):c.-117T>C	BSND	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 297674	NM_057176.3(BSND):c.-70C>G	BSND	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 4387	NM_057176.3(BSND):c.139G>A (p.Gly47Arg)	BSND (G47R)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive +2 more	GPathogenic
Select item 46546	NM_057176.3(BSND):c.177+11G>A	BSND	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 46549	NM_057176.3(BSND):c.189C>T (p.Val63=)	BSND	Single nucleotide variant (synonymous variant)	Bartter disease type 4A +2 more	GBenign/Likely benign
Select item 46553	NM_057176.3(BSND):c.924G>A (p.Pro308=)	BSND	Single nucleotide variant (synonymous variant)	Bartter disease type 4A +2 more	GBenign
Select item 297681	NM_057176.3(BSND):c.*24A>C	BSND	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign

ClinVar