"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 165167	NM_000336.3(SCNN1B):c.279T>C (p.Pro93=)	SCNN1B	Single nucleotide variant (synonymous variant)	Liddle syndrome 1 +4 more	GBenign
Select item 227060	NM_000336.3(SCNN1B):c.777-5T>C	SCNN1B	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 178802	NM_000336.3(SCNN1B):c.879C>T (p.Phe293=)	SCNN1B	Single nucleotide variant (synonymous variant)	Autosomal recessive pseudohypoaldosteronism type 1 +4 more	GBenign
Select item 178803	NM_000336.3(SCNN1B):c.1221A>G (p.Pro407=)	SCNN1B	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 165168	NM_000336.3(SCNN1B):c.1305G>A (p.Ala435=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 178804	NM_000336.3(SCNN1B):c.1325G>T (p.Gly442Val)	SCNN1B (G442V)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +4 more	GBenign
Select item 165169	NM_000336.3(SCNN1B):c.1401C>T (p.Ser467=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 165170	NM_000336.3(SCNN1B):c.1467-14G>A	SCNN1B	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 517338	NM_000336.3(SCNN1B):c.1554G>A (p.Leu518=)	SCNN1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 229239	NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val)	SCNN1B (A569V)	Single nucleotide variant (missense variant)	SCNN1B-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 165171	NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser)	SCNN1B (G589S)	Single nucleotide variant (missense variant)	SCNN1B-related disorder +5 more	GBenign/Likely benign
Select item 666637	NM_000336.3(SCNN1B):c.1781C>T (p.Thr594Met)	SCNN1B (T594M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign