Related gene-specific medical variations for Gene (Select 6337) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382271	NM_001038.6(SCNN1A):c.799_800del (p.Leu267fs)	SCNN1A (L267fs +2 more)	Microsatellite (frameshift variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive	GLikely pathogenic
Select item 3338298	NM_001038.6(SCNN1A):c.552_553insT (p.Pro185fs)	SCNN1A (P185fs +2 more)	Insertion (frameshift variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive	GPathogenic
Select item 3244361	NC_000012.11:g.(?_6457039)_(6483949_?)dup	SCNN1A	Duplication	not provided	GUncertain significance
Select item 2435775	NM_001038.6(SCNN1A):c.1049G>A (p.Arg350Gln)	SCNN1A (R350Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435774	NM_001038.6(SCNN1A):c.1222C>T (p.Pro408Ser)	SCNN1A (P408S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700120	NM_001038.6(SCNN1A):c.1579TTC[1] (p.Phe528del)	SCNN1A (F528del +2 more)	Microsatellite (inframe_deletion)	Neurodevelopmental delay	GPathogenic
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	SCNN1A, LTBR	Single nucleotide variant (5 prime UTR variant +1 more)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 592082	NM_001038.6(SCNN1A):c.1000_1002delinsACC (p.Ala334Thr)	SCNN1A (A357T +2 more)	Indel (missense variant)	not provided	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 591274	NM_001038.6(SCNN1A):c.139_140delinsCT (p.Ala47Leu)	SCNN1A (A47L +2 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 310162	NM_001038.5(SCNN1A):c.-186C>T	LTBR, SCNN1A	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +1 more	GLikely benign
Select item 310161	NM_001038.5(SCNN1A):c.-156C>T	LTBR, SCNN1A	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +1 more	GLikely benign
Select item 310160	NM_001038.5(SCNN1A):c.-155G>A	LTBR, SCNN1A	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +2 more	GLikely benign
Select item 310159	NM_001038.6(SCNN1A):c.-93A>G	SCNN1A, LTBR	Single nucleotide variant (5 prime UTR variant +1 more)	Bronchiectasis with or without elevated sweat chloride 2 +2 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
Select item 161503	NM_001038.6(SCNN1A):c.1129A>G (p.Ile377Val)	SCNN1A (I377V +2 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance