"SCNN1A-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3050527	NM_001038.6(SCNN1A):c.*3G>A	SCNN1A	Single nucleotide variant (3 prime UTR variant)	SCNN1A-related disorder	GLikely benign
Select item 2897418	NM_001038.6(SCNN1A):c.1144-9G>T	SCNN1A	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3061103	NM_001038.6(SCNN1A):c.875+3_875+6del	SCNN1A	Deletion (splice donor variant)	SCNN1A-related disorder	GLikely pathogenic
Select item 2630786	NM_001038.6(SCNN1A):c.607G>T (p.Ala203Ser)	SCNN1A (A203S +2 more)	Single nucleotide variant (missense variant)	SCNN1A-related disorder	GUncertain significance
Select item 2631993	NM_001038.6(SCNN1A):c.508C>G (p.Leu170Val)	SCNN1A (L170V +2 more)	Single nucleotide variant (missense variant)	SCNN1A-related disorder	GUncertain significance
Select item 723512	NM_001038.6(SCNN1A):c.339C>T (p.Pro113=)	SCNN1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2078618	NM_001038.6(SCNN1A):c.210C>T (p.Gly70=)	SCNN1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 310153	NM_001038.6(SCNN1A):c.99C>T (p.Pro33=)	SCNN1A	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 310155	NM_001038.6(SCNN1A):c.-48A>G	SCNN1A (K8E +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	SCNN1A-related disorder +4 more	GBenign/Likely benign
Select item 310157	NM_001038.6(SCNN1A):c.-55+5G>C	LTBR, SCNN1A	Single nucleotide variant (5 prime UTR variant +1 more)	SCNN1A-related disorder +3 more	GBenign