Related gene-specific medical variations for Gene (Select 4055) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1228146	NM_001159575.2(SCNN1A):c.-92A>G	LTBR, SCNN1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1191688	NM_001038.6(SCNN1A):c.-54-327A>G	LTBR, SCNN1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 882225	NM_001038.6(SCNN1A):c.-59G>C	LTBR, SCNN1A	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive pseudohypoaldosteronism type 1 +1 more	GUncertain significance
Select item 591722	NM_001038.6(SCNN1A):c.-55+2T>C	LTBR, SCNN1A	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 310162	NM_001038.5(SCNN1A):c.-186C>T	LTBR, SCNN1A	Single nucleotide variant (intron variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GLikely benign
Select item 310161	NM_001038.5(SCNN1A):c.-156C>T	LTBR, SCNN1A	Single nucleotide variant (intron variant)	Bronchiectasis with or without elevated sweat chloride 1 +1 more	GLikely benign
Select item 310160	NM_001038.5(SCNN1A):c.-155G>A	LTBR, SCNN1A	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 310159	NM_001038.6(SCNN1A):c.-93A>G	LTBR, SCNN1A	Single nucleotide variant (5 prime UTR variant +1 more)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GBenign
Select item 310158	NM_001038.6(SCNN1A):c.-69C>T	LTBR, SCNN1A	Single nucleotide variant (5 prime UTR variant +1 more)	Bronchiectasis with or without elevated sweat chloride 2 +1 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)	Bronchiectasis with or without elevated sweat chloride 2 +3 more	GBenign