C4748251[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 318347	NM_001039.4(SCNN1G):c.435C>T (p.Ser145=)	SCNN1G	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 1313539	NM_001039.4(SCNN1G):c.470G>A (p.Arg157Gln)	SCNN1G (R157Q)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +3 more	GUncertain significance
Select item 318351	NM_001039.4(SCNN1G):c.539G>A (p.Arg180Gln)	SCNN1G (R180Q)	Single nucleotide variant (missense variant)	not provided +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 provided +4 more	GBenign/Likely benign
Select item 799422	NM_001039.4(SCNN1G):c.819G>C (p.Thr273=)	SCNN1G	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +3 more	GLikely benign
Select item 318355	NM_001039.4(SCNN1G):c.1187A>G (p.His396Arg)	SCNN1G (H396R)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +2 more	GUncertain significance
Select item 736256	NM_001039.4(SCNN1G):c.1455T>C (p.Thr485=)	SCNN1G	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +3 more	GLikely benign
Select item 1185021	NM_001039.4(SCNN1G):c.1532T>A (p.Leu511Gln)	SCNN1G (L511Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 451433	NM_001039.4(SCNN1G):c.1550T>C (p.Met517Thr)	SCNN1G (M517T)	Single nucleotide variant (missense variant)	Liddle syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 787440	NM_001039.4(SCNN1G):c.1570-9G>A	SCNN1G	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign