ClinVar for MedGen (Select 444151) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382966	NM_000334.4(SCN4A):c.32C>T (p.Pro11Leu)	SCN4A (P11L)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 2 +4 more	GUncertain significance
Select item 3381979	NM_000334.4(SCN4A):c.1166del (p.Tyr389fs)	SCN4A (Y389fs)	Deletion (frameshift variant)	Congenital myopathy 22A, classic +6 more	GLikely pathogenic
Select item 3381974	NM_000334.4(SCN4A):c.4765G>T (p.Val1589Leu)	GH-LCR, SCN4A (V1589L)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3377502	NM_000334.4(SCN4A):c.3912+3del	GH-LCR, SCN4A	Deletion (intron variant)	Potassium-aggravated myotonia	GUncertain significance
Select item 3338061	NM_000334.4(SCN4A):c.486_487insGGCG (p.Thr163fs)	SCN4A (T163fs)	Insertion (frameshift variant)	Potassium-aggravated myotonia	GLikely pathogenic
Select item 3256756	NM_000334.4(SCN4A):c.5156C>G (p.Thr1719Ser)	GH-LCR, SCN4A (T1719S)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia	GLikely pathogenic
Select item 3251945	NM_000334.4(SCN4A):c.4243G>A (p.Gly1415Ser)	GH-LCR, SCN4A (G1415S)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 2687919	NM_000334.4(SCN4A):c.3404G>C (p.Arg1135Pro)	GH-LCR, SCN4A (R1135P)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia	GUncertain significance
Select item 2500312	NM_000334.4(SCN4A):c.3475T>C (p.Ser1159Pro)	GH-LCR, SCN4A (S1159P)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia	GLikely pathogenic
Select item 1683638	NM_006267.5(RANBP2):c.2415A>C (p.Glu805Asp)	RANBP2 (E805D)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 16 +4 more	GUncertain significance
Select item 1683503	NM_000334.4(SCN4A):c.2903C>A (p.Ala968Asp)	GH-LCR, SCN4A (A968D)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 16 +4 more	GUncertain significance
Select item 1664801	NM_000334.4(SCN4A):c.1845+11G>T	SCN4A	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 16 +5 more	GLikely benign
Select item 1664800	NM_000334.4(SCN4A):c.1845+12del	SCN4A	Deletion (intron variant)	Congenital myasthenic syndrome 16 +5 more	GLikely benign
Select item 1659828	NM_000334.4(SCN4A):c.1101-16C>T	SCN4A	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 16 +5 more	GLikely benign
Select item 1632771	NM_000334.4(SCN4A):c.5283C>T (p.Ser1761=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 2 +5 more	GLikely benign
Select item 1629517	NM_000334.4(SCN4A):c.3318+20C>G	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 2 +5 more	GLikely benign
Select item 1625399	NM_000334.4(SCN4A):c.3318+15G>A	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis +5 more	GLikely benign
Select item 1623186	NM_000334.4(SCN4A):c.4626C>T (p.Leu1542=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 2 +5 more	GLikely benign
Select item 1619621	NM_000334.4(SCN4A):c.1607-20T>C	SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis +5 more	GLikely benign
Select item 1601726	NM_000334.4(SCN4A):c.1607-17T>C	SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis +5 more	GBenign/Likely benign
Select item 1591292	NM_000334.4(SCN4A):c.1755C>T (p.Thr585=)	SCN4A	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1583660	NM_000334.4(SCN4A):c.2685C>T (p.Asn895=)	SCN4A, GH-LCR	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis +5 more	GLikely benign
Select item 1580548	NM_000334.4(SCN4A):c.3789G>T (p.Pro1263=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis +5 more	GLikely benign
Select item 1561270	NM_000334.4(SCN4A):c.2990-4T>A	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis +5 more	GLikely benign
Select item 1549486	NM_000334.4(SCN4A):c.1845+18A>T	SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis +6 more	GLikely benign
Select item 1530540	NM_000334.4(SCN4A):c.2854-19G>A	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis +5 more	GLikely benign
Select item 1525847	NM_000334.4(SCN4A):c.536G>A (p.Arg179Gln)	SCN4A (R179Q)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1518513	NM_000334.4(SCN4A):c.5495A>G (p.Lys1832Arg)	GH-LCR, SCN4A (K1832R)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +5 more	GUncertain significance
Select item 1518386	NM_000334.4(SCN4A):c.766C>T (p.Leu256Phe)	SCN4A (L256F)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 1515207	NM_000334.4(SCN4A):c.1207A>G (p.Met403Val)	SCN4A (M403V)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +5 more	GUncertain significance
Select item 1509093	NM_000334.4(SCN4A):c.3371C>A (p.Pro1124His)	GH-LCR, SCN4A (P1124H)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 1504907	NM_000334.4(SCN4A):c.64C>T (p.Arg22Trp)	SCN4A (R22W)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +5 more	GUncertain significance
Select item 1485399	NM_000334.4(SCN4A):c.4393G>T (p.Ala1465Ser)	GH-LCR, SCN4A (A1465S)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +5 more	GUncertain significance
Select item 1484775	NM_000334.4(SCN4A):c.5410A>G (p.Thr1804Ala)	GH-LCR, SCN4A (T1804A)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 1484736	NM_000334.4(SCN4A):c.2500G>A (p.Gly834Ser)	GH-LCR, SCN4A (G834S)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 1473762	NM_000334.4(SCN4A):c.458C>T (p.Pro153Leu)	SCN4A (P153L)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 1461866	NM_000334.4(SCN4A):c.679C>T (p.Leu227Phe)	SCN4A (L227F)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1433333	NM_000334.4(SCN4A):c.1064A>G (p.Asn355Ser)	SCN4A (N355S)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 1421497	NM_000334.4(SCN4A):c.5275G>A (p.Asp1759Asn)	GH-LCR, SCN4A (D1759N)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1421307	NM_000334.4(SCN4A):c.1282G>T (p.Val428Leu)	SCN4A (V428L)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +5 more	GUncertain significance
Select item 1419792	NM_000334.4(SCN4A):c.1606+3G>T	SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis +5 more	GUncertain significance
Select item 1401147	NM_000334.4(SCN4A):c.1874T>C (p.Met625Thr)	SCN4A (M625T)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +5 more	GUncertain significance
Select item 1400824	NM_000334.4(SCN4A):c.3037C>T (p.Arg1013Cys)	GH-LCR, SCN4A (R1013C)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 1400037	NM_000334.4(SCN4A):c.5415G>A (p.Met1805Ile)	SCN4A, GH-LCR (M1805I)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1395182	NM_000334.4(SCN4A):c.574C>T (p.Pro192Ser)	SCN4A (P192S)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +5 more	GUncertain significance
Select item 1394567	NM_000334.4(SCN4A):c.2863C>A (p.Gln955Lys)	GH-LCR, SCN4A (Q955K)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +5 more	GUncertain significance
Select item 1374656	NM_000334.4(SCN4A):c.181G>A (p.Gly61Ser)	SCN4A (G61S)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +5 more	GUncertain significance
Select item 1373900	NM_000334.4(SCN4A):c.5237C>T (p.Ser1746Phe)	GH-LCR, SCN4A (S1746F)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +5 more	GUncertain significance
Select item 1372465	NM_000334.4(SCN4A):c.190C>G (p.Leu64Val)	SCN4A (L64V)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 1369632	NM_000334.4(SCN4A):c.2711C>A (p.Pro904Gln)	GH-LCR, SCN4A (P904Q)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +5 more	GUncertain significance
Select item 1368980	NM_000334.4(SCN4A):c.1813C>T (p.His605Tyr)	SCN4A (H605Y)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +5 more	GUncertain significance
Select item 1368549	NM_000334.4(SCN4A):c.5465C>A (p.Pro1822His)	GH-LCR, SCN4A (P1822H)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +5 more	GUncertain significance
Select item 1359091	NM_000334.4(SCN4A):c.1999G>A (p.Val667Met)	SCN4A (V667M)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +5 more	GUncertain significance
Select item 1355806	NM_000334.4(SCN4A):c.4267G>A (p.Val1423Ile)	GH-LCR, SCN4A (V1423I)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +5 more	GUncertain significance
Select item 1347972	NM_000334.4(SCN4A):c.2990C>T (p.Ala997Val)	GH-LCR, SCN4A (A997V)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +5 more	GUncertain significance
Select item 1346336	NM_000334.4(SCN4A):c.4648C>T (p.Pro1550Ser)	GH-LCR, SCN4A (P1550S)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +6 more	GUncertain significance
Select item 1331145	NM_000334.4(SCN4A):c.1543G>A (p.Gly515Arg)	SCN4A (G515R)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1303597	NM_000334.4(SCN4A):c.91C>T (p.Arg31Trp)	SCN4A (R31W)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +7 more	GUncertain significance
Select item 1303377	NM_000334.4(SCN4A):c.55C>T (p.Pro19Ser)	SCN4A (P19S)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +6 more	GUncertain significance
Select item 1303156	NM_000334.4(SCN4A):c.2635AAG[1] (p.Lys880del)	GH-LCR, SCN4A (K880del)	Microsatellite (inframe_deletion)	not provided +6 more	GUncertain significance
Select item 1223185	NM_000334.4(SCN4A):c.3385C>T (p.Arg1129Trp)	GH-LCR, SCN4A (R1129W)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 1154116	NM_000334.4(SCN4A):c.5448C>G (p.Ala1816=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis +5 more	GLikely benign
Select item 1149702	NM_000334.4(SCN4A):c.2958G>A (p.Glu986=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Paramyotonia congenita of Von Eulenburg +5 more	GLikely benign
Select item 1142920	NM_000334.4(SCN4A):c.704-8G>A	SCN4A	Single nucleotide variant (intron variant)	Paramyotonia congenita of Von Eulenburg +5 more	GLikely benign
Select item 1128827	NM_000334.4(SCN4A):c.483-7C>T	SCN4A	Single nucleotide variant (intron variant)	Paramyotonia congenita of Von Eulenburg +5 more	GLikely benign
Select item 1112142	NM_000334.4(SCN4A):c.4887C>T (p.Pro1629=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis +5 more	GLikely benign
Select item 1109951	NM_000334.4(SCN4A):c.2853+7C>T	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Paramyotonia congenita of Von Eulenburg +5 more	GLikely benign
Select item 1103732	NM_000334.4(SCN4A):c.4323C>T (p.Phe1441=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Paramyotonia congenita of Von Eulenburg +5 more	GLikely benign
Select item 1102759	NM_000334.4(SCN4A):c.2451C>A (p.Gly817=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Paramyotonia congenita of Von Eulenburg +5 more	GLikely benign
Select item 1084495	NM_000334.4(SCN4A):c.1560G>A (p.Pro520=)	SCN4A	Single nucleotide variant (synonymous variant)	Paramyotonia congenita of Von Eulenburg +5 more	GLikely benign
Select item 1043677	NM_000334.4(SCN4A):c.5239A>G (p.Met1747Val)	GH-LCR, SCN4A (M1747V)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1023514	NM_000334.4(SCN4A):c.2650G>A (p.Glu884Lys)	SCN4A, GH-LCR (E884K)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 2 +5 more	GUncertain significance
Select item 1022410	NM_000334.4(SCN4A):c.419C>T (p.Thr140Ile)	SCN4A (T140I)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1017972	NM_000334.4(SCN4A):c.3080T>C (p.Ile1027Thr)	GH-LCR, SCN4A (I1027T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 1016699	NM_000334.4(SCN4A):c.1654G>A (p.Ala552Thr)	SCN4A (A552T)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +5 more	GUncertain significance
Select item 1009396	NM_000334.4(SCN4A):c.365G>T (p.Arg122Leu)	SCN4A (R122L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 1007765	NM_000334.4(SCN4A):c.5218C>T (p.Arg1740Trp)	GH-LCR, SCN4A (R1740W)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +5 more	GUncertain significance
Select item 1005233	NM_000334.4(SCN4A):c.386T>C (p.Ile129Thr)	SCN4A (I129T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GUncertain significance
Select item 1002768	NM_000334.4(SCN4A):c.1698G>T (p.Lys566Asn)	SCN4A (K566N)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +5 more	GUncertain significance
Select item 999587	NM_000334.4(SCN4A):c.5506G>A (p.Val1836Ile)	SCN4A, GH-LCR (V1836I)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +5 more	GUncertain significance
Select item 998946	NM_000334.4(SCN4A):c.1606G>A (p.Glu536Lys)	SCN4A (E536K)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 994951	NM_000334.4(SCN4A):c.1378G>A (p.Glu460Lys)	SCN4A (E460K)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 976513	NM_000334.4(SCN4A):c.4602G>A (p.Thr1534=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Potassium-aggravated myotonia +5 more	GLikely benign
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 970062	NM_000334.4(SCN4A):c.367G>A (p.Gly123Arg)	SCN4A (G123R)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 967828	NM_000334.4(SCN4A):c.4508A>G (p.Asn1503Ser)	GH-LCR, SCN4A (N1503S)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +7 more	GUncertain significance
Select item 967123	NM_000334.4(SCN4A):c.155G>A (p.Arg52Gln)	SCN4A (R52Q)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 964590	NM_000334.4(SCN4A):c.872A>G (p.Asn291Ser)	SCN4A (N291S)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +5 more	GUncertain significance
Select item 963232	NM_000334.4(SCN4A):c.1711A>G (p.Ile571Val)	SCN4A (I571V)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia +5 more	GUncertain significance
Select item 961699	NM_000334.4(SCN4A):c.4402A>G (p.Ile1468Val)	GH-LCR, SCN4A (I1468V)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 954819	NM_000334.4(SCN4A):c.739G>C (p.Val247Leu)	SCN4A (V247L)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 954775	NM_000334.4(SCN4A):c.4080G>C (p.Met1360Ile)	GH-LCR, SCN4A (M1360I)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 954431	NM_000334.4(SCN4A):c.4519G>A (p.Val1507Ile)	GH-LCR, SCN4A (V1507I)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia +6 more	GUncertain significance
Select item 952415	NM_000334.4(SCN4A):c.2479G>T (p.Gly827Trp)	GH-LCR, SCN4A (G827W)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +5 more	GUncertain significance
Select item 951521	NM_000334.4(SCN4A):c.568C>T (p.Arg190Trp)	SCN4A (R190W)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 949241	NM_000334.4(SCN4A):c.2690T>C (p.Met897Thr)	GH-LCR, SCN4A (M897T)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia +5 more	GUncertain significance
Select item 949090	NM_000334.4(SCN4A):c.4406G>A (p.Arg1469Gln)	GH-LCR, SCN4A (R1469Q)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia +5 more	GUncertain significance
Select item 946808	NM_000334.4(SCN4A):c.863A>G (p.Asn288Ser)	SCN4A (N288S)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia +5 more	GUncertain significance
Select item 936441	NM_000334.4(SCN4A):c.3145-5C>A	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Potassium-aggravated myotonia +5 more	GConflicting classifications of pathogenicity
Select item 932430	NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr)	GH-LCR, SCN4A (I1455T)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic

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