"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SCNN1B"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 789831	NM_000336.3(SCNN1B):c.147A>G (p.Lys49=)	SCNN1B	Single nucleotide variant (synonymous variant)	Liddle syndrome 1 +4 more	GBenign/Likely benign
Select item 740204	NM_000336.3(SCNN1B):c.177C>T (p.Phe59=)	SCNN1B	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GLikely benign
Select item 318420	NM_000336.3(SCNN1B):c.282C>T (p.Ala94=)	SCNN1B	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 1 +4 more	GBenign/Likely benign
Select item 989360	NM_000336.3(SCNN1B):c.530G>A (p.Ser177Asn)	SCNN1B (S177N)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GUncertain significance
Select item 1323566	NM_000336.3(SCNN1B):c.648dup (p.Glu217fs)	SCNN1B (E217fs)	Duplication (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GPathogenic/Likely pathogenic
Select item 8838	NM_000336.3(SCNN1B):c.800C>T (p.Pro267Leu)	SCNN1B (P267L)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GLikely pathogenic
Select item 1343467	NM_000336.3(SCNN1B):c.803A>G (p.His268Arg)	SCNN1B (H268R)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 497979	NM_000336.3(SCNN1B):c.903A>G (p.Ile301Met)	SCNN1B (I301M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1256466	NM_000336.3(SCNN1B):c.1152+10T>C	SCNN1B	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism, type IB2, autosomal recessive +5 more	GBenign/Likely benign
Select item 727645	NM_000336.3(SCNN1B):c.1190G>T (p.Arg397Leu)	SCNN1B (R397L)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GLikely benign
Select item 1304353	NM_000336.3(SCNN1B):c.1228C>T (p.Arg410Cys)	SCNN1B (R410C)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +3 more	GUncertain significance
Select item 318433	NM_000336.3(SCNN1B):c.1257C>T (p.Asp419=)	SCNN1B	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GBenign/Likely benign
Select item 255865	NM_000336.3(SCNN1B):c.1299C>T (p.Ser433=)	SCNN1B	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 1335207	NM_000336.3(SCNN1B):c.1322T>C (p.Ile441Thr)	SCNN1B (I441T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 8830	NM_000336.3(SCNN1B):c.1696C>T (p.Arg566Ter)	SCNN1B (R566*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 194168	NM_000336.3(SCNN1B):c.1731C>T (p.Thr577=)	SCNN1B	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 1 +4 more	GBenign/Likely benign
Select item 996084	NM_000336.3(SCNN1B):c.1732G>A (p.Val578Met)	SCNN1B (V578M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 165171	NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser)	SCNN1B (G589S)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +4 more	GBenign/Likely benign
Select item 1303165	NM_000336.3(SCNN1B):c.1894G>A (p.Glu632Lys)	SCNN1B (E632K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 499404	NM_000336.3(SCNN1B):c.1904G>A (p.Ser635Asn)	SCNN1B (S635N)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance

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Items: 20