"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SCN4A"[gen - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 514878	NM_000334.4(SCN4A):c.5468C>G (p.Pro1823Arg)	SCN4A, GH-LCR (P1823R)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis +3 more	GConflicting classifications of pathogenicity
Select item 283139	NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 477426	NM_000334.4(SCN4A):c.5181G>A (p.Glu1727=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Hyperkalemic periodic paralysis +6 more	GConflicting classifications of pathogenicity
Select item 420020	NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile)	GH-LCR, SCN4A (F1705I)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +2 more	GPathogenic/Likely pathogenic
Select item 808307	NM_000334.4(SCN4A):c.5000C>T (p.Pro1667Leu)	GH-LCR, SCN4A (P1667L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 16 +5 more	GConflicting classifications of pathogenicity
Select item 1571785	NM_000334.4(SCN4A):c.4995C>T (p.Asp1665=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Hyperkalemic periodic paralysis +1 more	GLikely benign
Select item 586523	NM_000334.4(SCN4A):c.4949C>T (p.Pro1650Leu)	GH-LCR, SCN4A (P1650L)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 840491	NM_000334.4(SCN4A):c.4864G>A (p.Glu1622Lys)	SCN4A, GH-LCR (E1622K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2648086	NM_000334.4(SCN4A):c.4819G>A (p.Glu1607Lys)	GH-LCR, SCN4A (E1607K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1013139	NM_000334.4(SCN4A):c.4816G>A (p.Glu1606Lys)	GH-LCR, SCN4A (E1606K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 623935	NM_000334.4(SCN4A):c.4783G>T (p.Ala1595Ser)	GH-LCR, SCN4A (A1595S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 5897	NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val)	GH-LCR, SCN4A (M1592V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 16 +6 more	GPathogenic
Select item 5905	NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met)	GH-LCR, SCN4A (V1589M)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 543819	NM_000334.4(SCN4A):c.4719C>T (p.Ile1573=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Hyperkalemic periodic paralysis +1 more	GLikely benign
Select item 195797	NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile)	GH-LCR, SCN4A (V1564I)	Single nucleotide variant (missense variant)	SCN4A-related condition +7 more	GConflicting classifications of pathogenicity
Select item 1694859	NM_000334.4(SCN4A):c.4539C>T (p.Ile1513=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 932430	NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr)	SCN4A, GH-LCR (I1455T)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 16 +6 more	GConflicting classifications of pathogenicity
Select item 5899	NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His)	GH-LCR, SCN4A (R1448H)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 5898	NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys)	GH-LCR, SCN4A (R1448C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 661981	NM_000334.4(SCN4A):c.4307T>C (p.Leu1436Pro)	GH-LCR, SCN4A (L1436P)	Single nucleotide variant (missense variant)	SCN4A-Related Disorders +2 more	GPathogenic
Select item 255854	NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=)	SCN4A, GH-LCR	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 16 +6 more	GConflicting classifications of pathogenicity
Select item 425142	NM_000334.4(SCN4A):c.4106C>A (p.Thr1369Asn)	GH-LCR, SCN4A (T1369N)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis +1 more	GUncertain significance
Select item 2164365	NM_000334.4(SCN4A):c.4089C>T (p.Ile1363=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 705783	NM_000334.4(SCN4A):c.4083C>A (p.Ile1361=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Paramyotonia congenita of Von Eulenburg +5 more	GConflicting classifications of pathogenicity
Select item 5920	NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu)	GH-LCR, SCN4A (G1306E)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 16 +6 more	GPathogenic
Select item 5908	NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala)	GH-LCR, SCN4A (G1306A)	Single nucleotide variant (missense variant)	not provided +2 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)	Paramyotonia congenita of Von Eulenburg +2 more	GPathogenic
Select item 2578796	NM_000334.4(SCN4A):c.3913T>C (p.Leu1305=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 374486	NM_000334.4(SCN4A):c.3898CAG[1] (p.Gln1301del)	GH-LCR, SCN4A (Q1301del)	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 5909	NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile)	GH-LCR, SCN4A (V1293I)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1298721	NM_000334.4(SCN4A):c.3774+1G>T	GH-LCR, SCN4A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2648087	NM_000334.4(SCN4A):c.3657C>T (p.Arg1219=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 931913	NM_000334.4(SCN4A):c.3539A>G (p.Asn1180Ser)	GH-LCR, SCN4A (N1180S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2648088	NM_000334.4(SCN4A):c.3487G>A (p.Val1163Met)	GH-LCR, SCN4A (V1163M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 5900	NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr)	GH-LCR, SCN4A (A1156T)	Single nucleotide variant (missense variant)	SCN4A-Related Disorders +9 more	GPathogenic/Likely pathogenic
Select item 255848	NM_000334.4(SCN4A):c.3429C>T (p.Phe1143=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 16 +6 more	GConflicting classifications of pathogenicity
Select item 143201	NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His)	GH-LCR, SCN4A (R1135H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1509093	NM_000334.4(SCN4A):c.3371C>A (p.Pro1124His)	GH-LCR, SCN4A (P1124H)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 3067503	NM_000334.4(SCN4A):c.3275A>G (p.Tyr1092Cys)	GH-LCR, SCN4A (Y1092C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 324524	NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp)	GH-LCR, SCN4A (G1046W)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 808308	NM_000334.4(SCN4A):c.3038G>A (p.Arg1013His)	GH-LCR, SCN4A (R1013H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 432019	NM_000334.4(SCN4A):c.2890G>A (p.Val964Ile)	GH-LCR, SCN4A (V964I)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 324527	NM_000334.4(SCN4A):c.2854-5C>T	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 546805	NM_000334.4(SCN4A):c.2846A>G (p.Asp949Gly)	GH-LCR, SCN4A (D949G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 743144	NM_000334.4(SCN4A):c.2835A>C (p.Ser945=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 324528	NM_000334.4(SCN4A):c.2697G>A (p.Leu899=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 2648089	NM_000334.4(SCN4A):c.2689A>G (p.Met897Val)	GH-LCR, SCN4A (M897V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 324531	NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser)	GH-LCR, SCN4A (P875S)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 850176	NM_000334.4(SCN4A):c.2593G>A (p.Gly865Arg)	GH-LCR, SCN4A (G865R)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis +1 more	GUncertain significance
Select item 2648090	NM_000334.4(SCN4A):c.2580G>A (p.Glu860=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 623936	NM_000334.4(SCN4A):c.2350A>G (p.Met784Val)	GH-LCR, SCN4A (M784V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 21153	NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile)	GH-LCR, SCN4A (V781I)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +8 more	GBenign/Likely benign
Select item 543826	NM_000334.4(SCN4A):c.2340C>T (p.Thr780=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Hyperkalemic periodic paralysis +6 more	GLikely benign
Select item 2648091	NM_000334.4(SCN4A):c.2131G>A (p.Val711Met)	GH-LCR, SCN4A (V711M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 623937	NM_000334.4(SCN4A):c.2065C>T (p.Leu689Phe)	SCN4A, GH-LCR (L689F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 21152	NM_000334.4(SCN4A):c.2065C>A (p.Leu689Ile)	GH-LCR, SCN4A (L689I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 5902	NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp)	GH-LCR, SCN4A (R675W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 5912	NM_000334.4(SCN4A):c.2015G>A (p.Arg672His)	SCN4A (R672H)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 16 +7 more	GConflicting classifications of pathogenicity
Select item 5913	NM_000334.4(SCN4A):c.2014C>G (p.Arg672Gly)	SCN4A (R672G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1053551	NM_000334.4(SCN4A):c.1984G>A (p.Val662Ile)	SCN4A (V662I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 586505	NM_000334.4(SCN4A):c.1902C>T (p.Pro634=)	SCN4A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2078335	NM_000334.4(SCN4A):c.1825G>T (p.Val609Leu)	SCN4A (V609L)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis +1 more	GUncertain significance
Select item 324537	NM_000334.4(SCN4A):c.1796A>G (p.His599Arg)	SCN4A (H599R)	Single nucleotide variant (missense variant)	SCN4A-related condition +6 more	GConflicting classifications of pathogenicity
Select item 389065	NM_000334.4(SCN4A):c.1710C>T (p.Ile570=)	SCN4A	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 2648092	NM_000334.4(SCN4A):c.1696A>C (p.Lys566Gln)	SCN4A (K566Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 324538	NM_000334.4(SCN4A):c.1653C>T (p.Cys551=)	SCN4A	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 16 +6 more	GConflicting classifications of pathogenicity
Select item 890240	NM_000334.4(SCN4A):c.1575C>T (p.Ser525=)	SCN4A	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 16 +5 more	GConflicting classifications of pathogenicity
Select item 2648093	NM_000334.4(SCN4A):c.1473G>A (p.Leu491=)	SCN4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 324540	NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr)	SCN4A (A488T)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +6 more	GConflicting classifications of pathogenicity
Select item 546444	NM_000334.4(SCN4A):c.1441_1442delinsTT (p.Glu481Leu)	SCN4A (E481L)	Indel (missense variant)	not provided +1 more	GUncertain significance
Select item 2648094	NM_000334.4(SCN4A):c.1336G>T (p.Val446Leu)	SCN4A (V446L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 5910	NM_000334.4(SCN4A):c.1333G>A (p.Val445Met)	SCN4A (V445M)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis +6 more	GPathogenic
Select item 255842	NM_000334.4(SCN4A):c.1100+7G>A	SCN4A	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 16 +6 more	GConflicting classifications of pathogenicity
Select item 2648095	NM_000334.4(SCN4A):c.1038G>A (p.Gly346=)	SCN4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 448288	NM_000334.4(SCN4A):c.999C>T (p.Asn333=)	SCN4A	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 21162	NM_000334.4(SCN4A):c.968C>T (p.Thr323Met)	SCN4A (T323M)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 252477	NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg)	SCN4A (W318R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 16 +7 more	GConflicting classifications of pathogenicity
Select item 2074178	NM_000334.4(SCN4A):c.916T>G (p.Trp306Gly)	SCN4A (W306G)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis +1 more	GUncertain significance
Select item 835289	NM_000334.4(SCN4A):c.865G>A (p.Asp289Asn)	SCN4A (D289N)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1625775	NM_000334.4(SCN4A):c.704-6G>C	SCN4A	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 432742	NM_000334.4(SCN4A):c.644T>C (p.Ile215Thr)	SCN4A (I215T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 324550	NM_000334.4(SCN4A):c.483-5C>A	SCN4A	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1473762	NM_000334.4(SCN4A):c.458C>T (p.Pro153Leu)	SCN4A (P153L)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 255852	NM_000334.4(SCN4A):c.403A>C (p.Met135Leu)	SCN4A (M135L)	Single nucleotide variant (missense variant)	SCN4A-related condition +7 more	GConflicting classifications of pathogenicity
Select item 324551	NM_000334.4(SCN4A):c.364C>T (p.Arg122Cys)	SCN4A (R122C)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +5 more	GConflicting classifications of pathogenicity
Select item 324552	NM_000334.4(SCN4A):c.355G>A (p.Val119Ile)	SCN4A (V119I)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis +7 more	GBenign/Likely benign
Select item 2648096	NM_000334.4(SCN4A):c.304A>G (p.Ile102Val)	SCN4A (I102V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701327	NM_000334.4(SCN4A):c.296G>T (p.Gly99Val)	SCN4A (G99V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426413	NM_000334.4(SCN4A):c.248T>C (p.Leu83Pro)	SCN4A (L83P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign

ClinVar

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Items: 90