"MGZ Medical Genetics Center"[submitter] AND "SCN4A"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 420020	NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile)	GH-LCR, SCN4A (F1705I)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +2 more	GPathogenic/Likely pathogenic
Select item 5905	NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met)	GH-LCR, SCN4A (V1589M)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 2 +3 more	GPathogenic
Select item 1709302	NM_000334.4(SCN4A):c.4498G>A (p.Gly1500Ser)	GH-LCR, SCN4A (G1500S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 16	GUncertain significance
Select item 577938	NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met)	GH-LCR, SCN4A (I1462M)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +7 more	GUncertain significance
Select item 5899	NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His)	GH-LCR, SCN4A (R1448H)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +3 more	GPathogenic
Select item 5904	NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)	GH-LCR, SCN4A (T1313M)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +8 more	GPathogenic
Select item 5908	NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala)	GH-LCR, SCN4A (G1306A)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia +4 more	GPathogenic/Likely pathogenic
Select item 5903	NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val)	GH-LCR, SCN4A (G1306V)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +7 more	GPathogenic
Select item 976103	NM_000334.4(SCN4A):c.3904A>C (p.Lys1302Gln)	GH-LCR, SCN4A (K1302Q)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +3 more	GUncertain significance
Select item 1709140	NM_000334.4(SCN4A):c.3703C>T (p.Leu1235Phe)	GH-LCR, SCN4A (L1235F)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +1 more	GUncertain significance
Select item 5900	NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr)	GH-LCR, SCN4A (A1156T)	Single nucleotide variant (missense variant)	Focal-onset seizure +9 more	GPathogenic/Likely pathogenic
Select item 21155	NM_000334.4(SCN4A):c.3395G>A (p.Arg1132Gln)	GH-LCR, SCN4A (R1132Q)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +3 more	GPathogenic
Select item 1709948	NM_000334.4(SCN4A):c.2995G>T (p.Val999Leu)	GH-LCR, SCN4A (V999L)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 1523862	NM_000334.4(SCN4A):c.2905G>A (p.Asp969Asn)	GH-LCR, SCN4A (D969N)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +1 more	GUncertain significance
Select item 501023	NM_000334.4(SCN4A):c.2809A>C (p.Thr937Pro)	GH-LCR, SCN4A (T937P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 5896	NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)	SCN4A, GH-LCR (T704M)	Single nucleotide variant (missense variant)	Sotos syndrome +8 more	GPathogenic/Likely pathogenic
Select item 5918	NM_000334.4(SCN4A):c.2023C>G (p.Arg675Gly)	GH-LCR, SCN4A (R675G)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1710057	NM_000334.4(SCN4A):c.1298T>G (p.Leu433Arg)	SCN4A (L433R)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg	GUncertain significance
Select item 1709301	NM_000334.4(SCN4A):c.435C>A (p.Cys145Ter)	SCN4A (C145*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 16	GLikely pathogenic
Select item 324551	NM_000334.4(SCN4A):c.364C>T (p.Arg122Cys)	SCN4A (R122C)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 2 +7 more	GConflicting classifications of pathogenicity

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Items: 20