C5774176[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 9264	NM_001038.6(SCNN1A):c.1522C>T (p.Arg508Ter)	SCNN1A (R508* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive pseudohypoaldosteronism type 1 +2 more	GPathogenic/Likely pathogenic
Select item 802813	NM_001038.6(SCNN1A):c.1439+1G>A	SCNN1A	Single nucleotide variant (splice donor variant)	Autosomal recessive pseudohypoaldosteronism type 1 +2 more	GPathogenic/Likely pathogenic
Select item 561216	NM_001038.6(SCNN1A):c.1435T>C (p.Cys479Arg)	SCNN1A (C479R +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1331718	NM_001038.6(SCNN1A):c.1426C>T (p.Arg476Trp)	SCNN1A (R476W +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 883257	NM_001038.6(SCNN1A):c.1361G>A (p.Gly454Glu)	SCNN1A (G454E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 310141	NM_001038.6(SCNN1A):c.1177G>A (p.Asp393Asn)	SCNN1A (D393N +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive pseudohypoaldosteronism type 1 +3 more	GUncertain significance
Select item 726376	NM_001038.6(SCNN1A):c.1074A>G (p.Glu358=)	SCNN1A	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 2 +3 more	GLikely benign
Select item 229237	NM_001038.6(SCNN1A):c.997C>T (p.Arg333Cys)	SCNN1A (R333C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive pseudohypoaldosteronism type 1 +3 more	GUncertain significance
Select item 882174	NM_001038.6(SCNN1A):c.777C>G (p.Ile259Met)	SCNN1A (I282M +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive pseudohypoaldosteronism type 1 +2 more	GUncertain significance
Select item 310150	NM_001038.6(SCNN1A):c.684+9C>T	SCNN1A	Single nucleotide variant (intron variant)	Bronchiectasis with or without elevated sweat chloride 2 +3 more	GBenign/Likely benign
Select item 988230	NM_001038.6(SCNN1A):c.574del (p.Arg192fs)	SCNN1A (R192fs +2 more)	Deletion (frameshift variant)	Liddle syndrome 3 +2 more	GPathogenic
Select item 227059	NM_001038.6(SCNN1A):c.540_541delinsTT (p.Arg181Trp)	SCNN1A (R204W +2 more)	Indel (missense variant)	Autosomal recessive pseudohypoaldosteronism type 1 +4 more	GBenign/Likely benign
Select item 196305	NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp)	SCNN1A (R181W +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 196304	NM_001038.6(SCNN1A):c.540G>T (p.Leu180=)	SCNN1A	Single nucleotide variant (synonymous variant)	Autosomal recessive pseudohypoaldosteronism type 1 +4 more	GBenign/Likely benign
Select item 1048766	NM_001038.6(SCNN1A):c.457A>T (p.Ile153Phe)	SCNN1A (I153F +2 more)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 2 +2 more	GUncertain significance
Select item 587486	NM_001038.6(SCNN1A):c.385G>A (p.Ala129Thr)	SCNN1A (A129T +2 more)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 2 +2 more	GUncertain significance
Select item 310152	NM_001038.6(SCNN1A):c.319G>A (p.Gly107Arg)	SCNN1A (G107R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive pseudohypoaldosteronism type 1 +3 more	GUncertain significance
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 591450	NM_001038.6(SCNN1A):c.69del (p.Asn24fs)	SCNN1A (N47fs +2 more)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 2 +2 more	GLikely pathogenic
Select item 880835	NM_001038.6(SCNN1A):c.-54-13G>A	SCNN1A	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive pseudohypoaldosteronism type 1 +2 more	GUncertain significance
Select item 318347	NM_001039.4(SCNN1G):c.435C>T (p.Ser145=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 1313539	NM_001039.4(SCNN1G):c.470G>A (p.Arg157Gln)	SCNN1G (R157Q)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 3 +3 more	GUncertain significance
Select item 318351	NM_001039.4(SCNN1G):c.539G>A (p.Arg180Gln)	SCNN1G (R180Q)	Single nucleotide variant (missense variant)	Liddle syndrome 2 +3 more	GUncertain significance
Select item 8829	NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys)	SCNN1G (E197K)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 285901	NM_001039.4(SCNN1G):c.699C>T (p.His233=)	SCNN1G	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 799422	NM_001039.4(SCNN1G):c.819G>C (p.Thr273=)	SCNN1G	Single nucleotide variant (synonymous variant)	Autosomal recessive pseudohypoaldosteronism type 1 +3 more	GLikely benign
Select item 318355	NM_001039.4(SCNN1G):c.1187A>G (p.His396Arg)	SCNN1G (H396R)	Single nucleotide variant (missense variant)	Liddle syndrome 2 +2 more	GUncertain significance
Select item 736256	NM_001039.4(SCNN1G):c.1455T>C (p.Thr485=)	SCNN1G	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 3 +3 more	GLikely benign
Select item 1185021	NM_001039.4(SCNN1G):c.1532T>A (p.Leu511Gln)	SCNN1G (L511Q)	Single nucleotide variant (missense variant)	Autosomal recessive pseudohypoaldosteronism type 1 +3 more	GUncertain significance
Select item 451433	NM_001039.4(SCNN1G):c.1550T>C (p.Met517Thr)	SCNN1G (M517T)	Single nucleotide variant (missense variant)	Autosomal recessive pseudohypoaldosteronism type 1 +3 more	GConflicting classifications of pathogenicity
Select item 787440	NM_001039.4(SCNN1G):c.1570-9G>A	SCNN1G	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 789831	NM_000336.3(SCNN1B):c.147A>G (p.Lys49=)	SCNN1B	Single nucleotide variant (synonymous variant)	SCNN1B-related disorder +5 more	GBenign/Likely benign
Select item 740204	NM_000336.3(SCNN1B):c.177C>T (p.Phe59=)	SCNN1B	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GLikely benign
Select item 318420	NM_000336.3(SCNN1B):c.282C>T (p.Ala94=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 989360	NM_000336.3(SCNN1B):c.530G>A (p.Ser177Asn)	SCNN1B (S177N)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GUncertain significance
Select item 1323566	NM_000336.3(SCNN1B):c.648dup (p.Glu217fs)	SCNN1B (E217fs)	Duplication (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GPathogenic/Likely pathogenic
Select item 8838	NM_000336.3(SCNN1B):c.800C>T (p.Pro267Leu)	SCNN1B (P267L)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GLikely pathogenic
Select item 1343467	NM_000336.3(SCNN1B):c.803A>G (p.His268Arg)	SCNN1B (H268R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 497979	NM_000336.3(SCNN1B):c.903A>G (p.Ile301Met)	SCNN1B (I301M)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +3 more	GUncertain significance
Select item 1256466	NM_000336.3(SCNN1B):c.1152+10T>C	SCNN1B	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 727645	NM_000336.3(SCNN1B):c.1190G>T (p.Arg397Leu)	SCNN1B (R397L)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +3 more	GLikely benign
Select item 1304353	NM_000336.3(SCNN1B):c.1228C>T (p.Arg410Cys)	SCNN1B (R410C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 318433	NM_000336.3(SCNN1B):c.1257C>T (p.Asp419=)	SCNN1B	Single nucleotide variant (synonymous variant)	Autosomal recessive pseudohypoaldosteronism type 1 +3 more	GBenign/Likely benign
Select item 255865	NM_000336.3(SCNN1B):c.1299C>T (p.Ser433=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 1335207	NM_000336.3(SCNN1B):c.1322T>C (p.Ile441Thr)	SCNN1B (I441T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 8830	NM_000336.3(SCNN1B):c.1696C>T (p.Arg566Ter)	SCNN1B (R566*)	Single nucleotide variant (nonsense)	Liddle syndrome 1 +3 more	GPathogenic
Select item 194168	NM_000336.3(SCNN1B):c.1731C>T (p.Thr577=)	SCNN1B	Single nucleotide variant (synonymous variant)	Liddle syndrome 1 +4 more	GBenign/Likely benign
Select item 996084	NM_000336.3(SCNN1B):c.1732G>A (p.Val578Met)	SCNN1B (V578M)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GUncertain significance
Select item 165171	NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser)	SCNN1B (G589S)	Single nucleotide variant (missense variant)	SCNN1B-related disorder +5 more	GBenign/Likely benign
Select item 1303165	NM_000336.3(SCNN1B):c.1894G>A (p.Glu632Lys)	SCNN1B (E632K)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GUncertain significance
Select item 499404	NM_000336.3(SCNN1B):c.1904G>A (p.Ser635Asn)	SCNN1B (S635N)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance

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Items: 52