"Eurofins Ntd Llc (ga)"[submitter] AND "SCNN1B"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 8844	NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys)	SCNN1B (S82C)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 165167	NM_000336.3(SCNN1B):c.279T>C (p.Pro93=)	SCNN1B	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 8840	NM_000336.3(SCNN1B):c.880G>A (p.Gly294Ser)	SCNN1B (G294S)	Single nucleotide variant (missense variant)	not provided	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 178804	NM_000336.3(SCNN1B):c.1325G>T (p.Gly442Val)	SCNN1B (G442V)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +4 more	GBenign
Select item 194167	NM_000336.3(SCNN1B):c.1663C>T (p.Leu555=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
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 255867	NM_000336.3(SCNN1B):c.1782G>A (p.Thr594=)	SCNN1B	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
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