SCNN1A[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 320

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 58208	GRCh38/hg38 12p13.31(chr12:6098040-6355855)x3	CD9, LOC112163621 +19 more	Copy number gain	See cases	GUncertain significance
Select item 310113	NM_001065.4(TNFRSF1A):c.-74G>A	SCNN1A, TNFRSF1A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS) +3 more	GConflicting classifications of pathogenicity
Select item 310114	NM_001065.4(TNFRSF1A):c.-96C>T	LOC130007233, SCNN1A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS) +5 more	GConflicting classifications of pathogenicity
Select item 310116	NM_001065.4(TNFRSF1A):c.-233C>T	TNFRSF1A, SCNN1A	Single nucleotide variant (5 prime UTR variant +1 more)	TNF receptor-associated periodic fever syndrome (TRAPS) +3 more	GConflicting classifications of pathogenicity
Select item 1252730	NC_000012.12:g.6346794G>A	SCNN1A	Single nucleotide variant	not provided	GBenign
Select item 883854	NM_001038.6(SCNN1A):c.*1020G>T	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 310117	NM_001038.6(SCNN1A):c.*1012TGTT[1]	SCNN1A, TNFRSF1A	Microsatellite (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GBenign/Likely benign
Select item 310118	NM_001038.6(SCNN1A):c.*920C>T	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GBenign/Likely benign
Select item 310119	NM_001038.6(SCNN1A):c.*914A>G	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +2 more	GConflicting classifications of pathogenicity
Select item 310120	NM_001038.6(SCNN1A):c.*850C>T	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive pseudohypoaldosteronism type 1	GLikely benign
Select item 310121	NM_001038.6(SCNN1A):c.*736T>G	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 880565	NM_001038.6(SCNN1A):c.*727A>G	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 880566	NM_001038.6(SCNN1A):c.*666T>C	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive pseudohypoaldosteronism type 1 +1 more	GUncertain significance
Select item 310122	NM_001038.6(SCNN1A):c.*633G>T	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +2 more	GBenign/Likely benign
Select item 310123	NM_001038.6(SCNN1A):c.*590C>G	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 310124	NM_001038.6(SCNN1A):c.*580A>C	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 881985	NM_001038.6(SCNN1A):c.*542G>A	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 883146	NM_001038.6(SCNN1A):c.*509T>G	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GBenign/Likely benign
Select item 883147	NM_001038.6(SCNN1A):c.*468C>T	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 883148	NM_001038.6(SCNN1A):c.*467C>A	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GConflicting classifications of pathogenicity
Select item 310125	NM_001038.6(SCNN1A):c.*415C>T	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 883925	NM_001038.6(SCNN1A):c.*386G>A	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 883926	NM_001038.6(SCNN1A):c.*352A>G	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 310126	NM_001038.6(SCNN1A):c.*296C>T	SCNN1A	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 883927	NM_001038.6(SCNN1A):c.*180T>C	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 310127	NM_001038.6(SCNN1A):c.*114G>A	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 310128	NM_001038.6(SCNN1A):c.*113C>T	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GConflicting classifications of pathogenicity
Select item 310129	NM_001038.6(SCNN1A):c.*70T>C	SCNN1A	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 880643	NM_001038.6(SCNN1A):c.*69A>G	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive pseudohypoaldosteronism type 1 +1 more	GUncertain significance
Select item 310130	NM_001038.6(SCNN1A):c.*4G>A	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GLikely benign
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 2478449	NM_001038.6(SCNN1A):c.2005C>G (p.Pro669Ala)	SCNN1A (P728A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 449217	NM_001038.6(SCNN1A):c.2004dup (p.Pro669fs)	SCNN1A (P728fs +2 more)	Duplication (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 2705633	NM_001038.6(SCNN1A):c.2004G>C (p.Gly668=)	SCNN1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 882060	NM_001038.6(SCNN1A):c.2004G>T (p.Gly668=)	SCNN1A	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GConflicting classifications of pathogenicity
Select item 1982467	NM_001038.6(SCNN1A):c.1998G>C (p.Leu666=)	SCNN1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 165164	NM_001038.6(SCNN1A):c.1987A>G (p.Thr663Ala)	SCNN1A (T663A +2 more)	Single nucleotide variant (missense variant)	Liddle syndrome 3 +4 more	GBenign
Select item 2793897	NM_001038.6(SCNN1A):c.1966T>C (p.Ser656Pro)	SCNN1A (S656P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2206584	NM_001038.6(SCNN1A):c.1949G>A (p.Arg650His)	SCNN1A (R709H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 310131	NM_001038.6(SCNN1A):c.1935C>T (p.Ala645=)	SCNN1A	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 2 +2 more	GConflicting classifications of pathogenicity
Select item 1927786	NM_001038.6(SCNN1A):c.1931A>G (p.Tyr644Cys)	SCNN1A (Y703C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710789	NM_001038.6(SCNN1A):c.1927G>T (p.Ala643Ser)	SCNN1A (A643S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968499	NM_001038.6(SCNN1A):c.1872G>A (p.Leu624=)	SCNN1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997700	NM_001038.6(SCNN1A):c.1870C>T (p.Leu624=)	SCNN1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2493373	NM_001038.6(SCNN1A):c.1866G>A (p.Met622Ile)	SCNN1A (M645I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158592	NM_001038.6(SCNN1A):c.1859A>G (p.His620Arg)	SCNN1A (H679R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298263	NM_001038.6(SCNN1A):c.1858C>G (p.His620Asp)	SCNN1A (H620D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 194190	NM_001038.6(SCNN1A):c.1853G>T (p.Cys618Phe)	SCNN1A (C618F +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 2663204	NM_001038.6(SCNN1A):c.1828G>A (p.Ala610Thr)	SCNN1A (A610T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2269810	NM_001038.6(SCNN1A):c.1810G>A (p.Glu604Lys)	SCNN1A (E604K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 883206	NM_001038.6(SCNN1A):c.1805C>T (p.Ala602Val)	SCNN1A (A625V +2 more)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GConflicting classifications of pathogenicity
Select item 883207	NM_001038.6(SCNN1A):c.1801G>C (p.Gly601Arg)	SCNN1A (G601R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive pseudohypoaldosteronism type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2056764	NM_001038.6(SCNN1A):c.1772G>A (p.Arg591Gln)	SCNN1A (R591Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 632197	NM_001038.6(SCNN1A):c.1771C>T (p.Arg591Ter)	SCNN1A (R591* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive pseudohypoaldosteronism type 1 +1 more	GConflicting classifications of pathogenicity
Select item 310132	NM_001038.6(SCNN1A):c.1766G>A (p.Arg589Gln)	SCNN1A (R589Q +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive pseudohypoaldosteronism type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1699625	NM_001038.6(SCNN1A):c.1762T>G (p.Phe588Val)	SCNN1A (F588V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2596965	NM_001038.6(SCNN1A):c.1757G>A (p.Arg586Gln)	SCNN1A (R586Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1908745	NM_001038.6(SCNN1A):c.1743C>A (p.Phe581Leu)	SCNN1A (F581L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2229252	NM_001038.6(SCNN1A):c.1733T>C (p.Val578Ala)	SCNN1A (V601A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 719730	NM_001038.6(SCNN1A):c.1717G>A (p.Val573Ile)	SCNN1A (V573I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 3158591	NM_001038.6(SCNN1A):c.1697T>C (p.Val566Ala)	SCNN1A (V625A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 310133	NM_001038.6(SCNN1A):c.1686G>A (p.Ser562=)	SCNN1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 9267	NM_001038.6(SCNN1A):c.1685C>T (p.Ser562Leu)	SCNN1A (S562L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1988711	NM_001038.6(SCNN1A):c.1630-20A>G	SCNN1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191681	NM_001038.6(SCNN1A):c.1629+95G>A	SCNN1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277969	NM_001038.6(SCNN1A):c.1629+63G>A	SCNN1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225216	NM_001038.6(SCNN1A):c.1629+57G>T	SCNN1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239611	NM_001038.6(SCNN1A):c.1629+51A>G	SCNN1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201306	NM_001038.6(SCNN1A):c.1629+28A>T	SCNN1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930324	NM_001038.6(SCNN1A):c.1629+3A>G	SCNN1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2664769	NM_001038.6(SCNN1A):c.1629G>A (p.Thr543=)	SCNN1A	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 2	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 2551582	NM_001038.6(SCNN1A):c.1582T>C (p.Phe528Leu)	SCNN1A (F587L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410724	NM_001038.6(SCNN1A):c.1576A>G (p.Ile526Val)	SCNN1A (I549V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234484	NM_001038.6(SCNN1A):c.1568A>G (p.Lys523Arg)	SCNN1A (K546R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 310134	NM_001038.6(SCNN1A):c.1559G>C (p.Gly520Ala)	SCNN1A (G520A +2 more)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GConflicting classifications of pathogenicity
Select item 666751	NM_001038.6(SCNN1A):c.1554A>G (p.Arg518=)	SCNN1A	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 2 +3 more	GLikely benign
Select item 806813	NM_001038.6(SCNN1A):c.1554-6C>G	SCNN1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 310135	NM_001038.6(SCNN1A):c.1554-6C>T	SCNN1A	Single nucleotide variant (intron variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GConflicting classifications of pathogenicity
Select item 1896829	NM_001038.6(SCNN1A):c.1554-17T>C	SCNN1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287650	NM_001038.6(SCNN1A):c.1553+73G>A	SCNN1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246088	NM_001038.6(SCNN1A):c.1553+32G>A	SCNN1A	Single nucleotide variant (intron variant)	Autosomal recessive pseudohypoaldosteronism type 1 +3 more	GBenign
Select item 2261025	NM_001038.6(SCNN1A):c.1540G>A (p.Val514Ile)	SCNN1A (V514I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2079104	NM_001038.6(SCNN1A):c.1539C>T (p.Thr513=)	SCNN1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3316639	NM_001038.6(SCNN1A):c.1527G>T (p.Gln509His)	SCNN1A (Q509H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1331716	NM_001038.6(SCNN1A):c.1523G>A (p.Arg508Gln)	SCNN1A (R508Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 9264	NM_001038.6(SCNN1A):c.1522C>T (p.Arg508Ter)	SCNN1A (R508* +2 more)	Single nucleotide variant (nonsense)	Liddle syndrome 3 +2 more	GPathogenic/Likely pathogenic
Select item 738498	NM_001038.6(SCNN1A):c.1520C>T (p.Ser507Leu)	SCNN1A (S530L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 4