"Baylor Genetics"[submitter] AND "SCN4A"[gene] - ClinVar - NCBI

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

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028201	NM_000334.4(SCN4A):c.4175T>C (p.Phe1392Ser)	GH-LCR, SCN4A (F1392S)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 5904	NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)	GH-LCR, SCN4A (T1313M)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic
Select item 453303	NM_000334.4(SCN4A):c.3424C>T (p.Arg1142Ter)	GH-LCR, SCN4A (R1142*)	Single nucleotide variant (nonsense)	Myopathy +1 more	GConflicting classifications of pathogenicity
Select item 870587	NM_000334.4(SCN4A):c.3403C>A (p.Arg1135Ser)	SCN4A, GH-LCR (R1135S)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 2	GLikely pathogenic
Select item 477408	NM_000334.4(SCN4A):c.2794G>A (p.Asp932Asn)	GH-LCR, SCN4A (D932N)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 16 +2 more	GConflicting classifications of pathogenicity
Select item 5919	NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln)	GH-LCR, SCN4A (R675Q)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 324537	NM_000334.4(SCN4A):c.1796A>G (p.His599Arg)	SCN4A (H599R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 663353	NM_000334.4(SCN4A):c.1559C>T (p.Pro520Leu)	SCN4A (P520L)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +2 more	GUncertain significance
Select item 1032988	NM_000334.4(SCN4A):c.685del (p.Thr229fs)	SCN4A (T229fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 16	GPathogenic
Select item 1028200	NM_000334.4(SCN4A):c.415A>T (p.Ile139Phe)	SCN4A (I139F)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 477399	NM_000334.4(SCN4A):c.154C>T (p.Arg52Trp)	SCN4A (R52W)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +3 more	GConflicting classifications of pathogenicity
Select item 543812	NM_000334.4(SCN4A):c.8G>C (p.Arg3Thr)	SCN4A (R3T)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +5 more	GUncertain significance
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic