"OMIM"[submitter] AND "BSND"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4380	NM_057176.3(BSND):c.1A>T (p.Met1Leu)	BSND (M1L)	Single nucleotide variant (missense variant +1 more)	Bartter disease type 4A +1 more	GPathogenic
Select item 4384	NM_057176.3(BSND):c.3G>A (p.Met1Ile)	BSND (M1I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 4389	NM_057176.3(BSND):c.10G>T (p.Glu4Ter)	BSND (E4*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 4381	NM_057176.3(BSND):c.22C>T (p.Arg8Trp)	BSND (R8W)	Single nucleotide variant (missense variant)	Bartter syndrome +1 more	GPathogenic/Likely pathogenic
Select item 4386	NM_057176.3(BSND):c.23G>T (p.Arg8Leu)	BSND (R8L)	Single nucleotide variant (missense variant)	Bartter disease type 4A	GPathogenic
Select item 4385	NM_057176.3(BSND):c.28G>A (p.Gly10Ser)	BSND (G10S)	Single nucleotide variant (missense variant)	Bartter syndrome +1 more	GPathogenic/Likely pathogenic
Select item 4388	NM_057176.3(BSND):c.35T>C (p.Ile12Thr)	BSND (I12T)	Single nucleotide variant (missense variant)	Bartter syndrome +2 more	GPathogenic
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 4382	NM_057176.3(BSND):c.157_177+20del	BSND	Deletion (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 4383	NM_057176.3(BSND):c.273-887_*576del	BSND	Deletion (splice acceptor variant +1 more)	Bartter disease type 4A	GPathogenic