"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SCN4B"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 302587	NM_174934.4(SCN4B):c.*2977A>G	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome +1 more	GUncertain significance
Select item 302602	NM_174934.4(SCN4B):c.*2196G>A	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome +1 more	GUncertain significance
Select item 302613	NM_174934.4(SCN4B):c.*1410C>T	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome +1 more	GUncertain significance
Select item 302628	NM_174934.4(SCN4B):c.*961A>G	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Long QT syndrome 10 +2 more	GUncertain significance
Select item 302637	NM_174934.4(SCN4B):c.*670G>T	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome +1 more	GUncertain significance
Select item 1176917	NM_174934.4(SCN4B):c.649G>T (p.Gly217Cys)	SCN4B (G107C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 139036	NM_174934.4(SCN4B):c.639C>T (p.Asn213=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GBenign
Select item 190895	NM_174934.4(SCN4B):c.632C>G (p.Thr211Arg)	SCN4B (T211R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 191380	NM_174934.4(SCN4B):c.617C>T (p.Ser206Leu)	SCN4B (S206L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 574219	NM_174934.4(SCN4B):c.520A>G (p.Ile174Val)	SCN4B (I174V +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10 +1 more	GConflicting classifications of pathogenicity
Select item 302646	NM_174934.4(SCN4B):c.482C>G (p.Thr161Arg)	SCN4B (T161R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 190899	NM_174934.4(SCN4B):c.454G>A (p.Val152Ile)	LOC126861356, SCN4B (V152I +1 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10 +2 more	GUncertain significance
Select item 1211576	NM_174934.4(SCN4B):c.347T>C (p.Ile116Thr)	LOC126861356, SCN4B (I116T +1 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10 +2 more	GUncertain significance
Select item 1414065	NM_174934.4(SCN4B):c.234+1G>A	SCN4B	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 519285	NM_174934.4(SCN4B):c.115A>G (p.Thr39Ala)	SCN4B (T39A)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified +2 more	GUncertain significance
Select item 663765	NM_174934.4(SCN4B):c.40T>G (p.Trp14Gly)	SCN4B (W14G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1141655	NM_174934.4(SCN4B):c.21A>G (p.Gly7=)	SCN4B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign