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

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 765465	NM_057176.3(BSND):c.9C>T (p.Asp3=)	BSND	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 667197	NM_057176.3(BSND):c.10G>A (p.Glu4Lys)	BSND (E4K)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
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 1064565	NM_057176.3(BSND):c.64G>A (p.Gly22Ser)	BSND (G22S)	Single nucleotide variant (missense variant)	Bartter disease type 4A	GUncertain significance
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 46547	NM_057176.3(BSND):c.177+15G>C	BSND	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 227189	NM_057176.3(BSND):c.183C>T (p.Thr61=)	BSND	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 667072	NM_057176.3(BSND):c.225A>G (p.Pro75=)	BSND	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 620144	NM_057176.3(BSND):c.262G>T (p.Glu88Ter)	BSND (E88*)	Single nucleotide variant (nonsense)	Bartter disease type 4A +1 more	GPathogenic
Select item 837720	NM_057176.3(BSND):c.272+1G>T	BSND	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 795039	NM_057176.3(BSND):c.282C>T (p.Pro94=)	BSND	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 929993	NM_057176.3(BSND):c.287C>T (p.Pro96Leu)	BSND (P96L)	Single nucleotide variant (missense variant)	Bartter disease type 4A +1 more	GUncertain significance
Select item 1100449	NM_057176.3(BSND):c.288G>A (p.Pro96=)	BSND	Single nucleotide variant (synonymous variant)	Bartter disease type 4A +1 more	GLikely benign
Select item 1106323	NM_057176.3(BSND):c.411G>A (p.Gly137=)	BSND	Single nucleotide variant (synonymous variant)	Bartter disease type 4A +1 more	GLikely benign
Select item 226465	NM_057176.3(BSND):c.459C>T (p.Asp153=)	BSND	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1695998	NM_057176.3(BSND):c.467C>A (p.Ala156Asp)	BSND (A156D)	Single nucleotide variant (missense variant)	Bartter disease type 4A +1 more	GUncertain significance
Select item 1151192	NM_057176.3(BSND):c.501C>T (p.Gly167=)	BSND	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1695770	NM_057176.3(BSND):c.514G>A (p.Glu172Lys)	BSND (E172K)	Single nucleotide variant (missense variant)	Bartter disease type 4A +1 more	GUncertain significance
Select item 1086153	NM_057176.3(BSND):c.546C>T (p.Pro182=)	BSND	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 709547	NM_057176.3(BSND):c.548+10T>C	BSND	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 226466	NM_057176.3(BSND):c.597T>C (p.Asp199=)	BSND	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1693357	NM_057176.3(BSND):c.670C>A (p.Pro224Thr)	BSND (P224T)	Single nucleotide variant (missense variant)	Bartter disease type 4A +1 more	GUncertain significance
Select item 1329051	NM_057176.3(BSND):c.673C>T (p.Gln225Ter)	BSND (Q225*)	Single nucleotide variant (nonsense)	Bartter disease type 4A +2 more	GUncertain significance
Select item 1416603	NM_057176.3(BSND):c.737C>T (p.Ala246Val)	BSND (A246V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1256327	NM_057176.3(BSND):c.763G>C (p.Glu255Gln)	BSND (E255Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 517488	NM_057176.3(BSND):c.770A>G (p.Gln257Arg)	BSND (Q257R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 505827	NM_057176.3(BSND):c.810C>T (p.Tyr270=)	BSND	Single nucleotide variant (synonymous variant)	Bartter disease type 4A +2 more	GLikely benign
Select item 1114899	NM_057176.3(BSND):c.831G>A (p.Glu277=)	BSND	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1311833	NM_057176.3(BSND):c.868A>G (p.Lys290Glu)	BSND (K290E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 162807	NM_057176.3(BSND):c.872A>G (p.Glu291Gly)	BSND (E291G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1179115	GRCh37/hg19 1p32.3(chr1:55464606-55482845)	BSND	Copy number loss	Bartter disease type 4A	GPathogenic

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Items: 31