"PreventionGenetics, part of Exact Sciences"[submitter] AND "SCNN1G"[g - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058747	NM_001039.4(SCNN1G):c.327C>A (p.Thr109=)	SCNN1G	Single nucleotide variant (synonymous variant)	SCNN1G-related condition	GLikely benign
Select item 165172	NM_001039.4(SCNN1G):c.387T>C (p.Tyr129=)	SCNN1G	Single nucleotide variant (synonymous variant)	Liddle syndrome 2 +3 more	GBenign
Select item 165173	NM_001039.4(SCNN1G):c.474T>C (p.Ile158=)	SCNN1G	Single nucleotide variant (synonymous variant)	Liddle syndrome 2 +3 more	GBenign
Select item 8828	NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser)	SCNN1G (G183S)	Single nucleotide variant (missense variant)	SCNN1G-related condition +4 more	GBenign/Likely benign
Select item 165174	NM_001039.4(SCNN1G):c.549C>T (p.Gly183=)	SCNN1G	Single nucleotide variant (synonymous variant)	Liddle syndrome 2 +3 more	GBenign
Select item 8829	NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys)	SCNN1G (E197K)	Single nucleotide variant (missense variant)	Liddle syndrome 2 +4 more	GBenign/Likely benign
Select item 3047900	NM_001039.4(SCNN1G):c.945G>A (p.Glu315=)	SCNN1G	Single nucleotide variant (synonymous variant)	SCNN1G-related condition	GLikely benign
Select item 2631991	NM_001039.4(SCNN1G):c.1072C>T (p.His358Tyr)	SCNN1G (H358Y)	Single nucleotide variant (missense variant)	SCNN1G-related condition	GUncertain significance
Select item 165176	NM_001039.4(SCNN1G):c.1176+14A>G	SCNN1G	Single nucleotide variant (intron variant)	Liddle syndrome 2 +4 more	GBenign
Select item 2632715	NM_001039.4(SCNN1G):c.1431+1G>T	SCNN1G	Single nucleotide variant (splice donor variant)	SCNN1G-related condition	GLikely pathogenic
Select item 165175	NM_001039.4(SCNN1G):c.1432-7G>A	SCNN1G	Single nucleotide variant (intron variant)	Liddle syndrome 2 +4 more	GBenign
Select item 286685	NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=)	SCNN1G	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 318360	NM_001039.4(SCNN1G):c.1827G>C (p.Leu609Phe)	SCNN1G (L609F)	Single nucleotide variant (missense variant)	Autosomal recessive pseudohypoaldosteronism type 1 +3 more	GConflicting classifications of pathogenicity
Select item 2633627	NM_001039.4(SCNN1G):c.1874C>T (p.Pro625Leu)	SCNN1G (P625L)	Single nucleotide variant (missense variant)	SCNN1G-related condition	GUncertain significance
Select item 165177	NM_001039.4(SCNN1G):c.1947C>G (p.Leu649=)	SCNN1G	Single nucleotide variant (synonymous variant)	Liddle syndrome 2 +4 more	GBenign