ClinVar for MedGen (Select 481742) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3582723	NM_000334.4(SCN4A):c.-5C>T	SCN4A	Single nucleotide variant (5 prime UTR variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582722	NM_000334.4(SCN4A):c.51G>T (p.Leu17Phe)	SCN4A (L17F)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582720	NM_000334.4(SCN4A):c.274-20C>G	SCN4A	Single nucleotide variant (intron variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582719	NM_000334.4(SCN4A):c.283G>A (p.Val95Ile)	SCN4A (V95I)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582717	NM_000334.4(SCN4A):c.383T>A (p.Leu128His)	SCN4A (L128H)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582716	NM_000334.4(SCN4A):c.412A>G (p.Met138Val)	SCN4A (M138V)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582715	NM_000334.4(SCN4A):c.641A>G (p.Asn214Ser)	SCN4A (N214S)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 3582714	NM_000334.4(SCN4A):c.721G>C (p.Gly241Arg)	SCN4A (G241R)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582712	NM_000334.4(SCN4A):c.788T>C (p.Val263Ala)	SCN4A (V263A)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582711	NM_000334.4(SCN4A):c.870_878del (p.Asn291_Thr293del)	SCN4A	Deletion	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582710	NM_000334.4(SCN4A):c.881G>A (p.Trp294Ter)	SCN4A (W294*)	Single nucleotide variant (nonsense)	Congenital myopathy 22A, classic +6 more	GLikely pathogenic
Select item 3582709	NM_000334.4(SCN4A):c.897GTGGTACGGCAATGACAC[3] (p.Asn309_Glu310insAspThrTrpTyrGlyAsnAspThrTrpTyrGlyAsn)	SCN4A	Microsatellite	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582708	NM_000334.4(SCN4A):c.936G>A (p.Trp312Ter)	SCN4A (W312*)	Single nucleotide variant (nonsense)	Congenital myopathy 22A, classic +6 more	GLikely pathogenic
Select item 3582707	NM_000334.4(SCN4A):c.944A>G (p.Asn315Ser)	SCN4A (N315S)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582706	NM_000334.4(SCN4A):c.1030G>A (p.Asp344Asn)	SCN4A (D344N)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582705	NM_000334.4(SCN4A):c.1043dup (p.Tyr349fs)	SCN4A (Y349fs)	Duplication (frameshift variant)	Congenital myopathy 22A, classic +6 more	GLikely pathogenic
Select item 3582704	NM_000334.4(SCN4A):c.1121A>C (p.Glu374Ala)	SCN4A (E374A)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582703	NM_000334.4(SCN4A):c.1138C>T (p.Arg380Trp)	SCN4A (R380W)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582701	NM_000334.4(SCN4A):c.1242+6G>T	SCN4A	Single nucleotide variant (intron variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582700	NM_000334.4(SCN4A):c.1250G>A (p.Arg417Gln)	SCN4A (R417Q)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582699	NM_000334.4(SCN4A):c.1301G>C (p.Gly434Ala)	SCN4A (G434A)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582698	NM_000334.4(SCN4A):c.1339G>A (p.Ala447Thr)	SCN4A (A447T)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582697	NM_000334.4(SCN4A):c.1362T>A (p.Asn454Lys)	SCN4A (N454K)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582696	NM_000334.4(SCN4A):c.1366G>A (p.Ala456Thr)	SCN4A (A456T)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582695	NM_000334.4(SCN4A):c.1380G>A (p.Glu460=)	SCN4A	Single nucleotide variant (synonymous variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582693	NM_000334.4(SCN4A):c.1393GAG[2] (p.Glu467del)	SCN4A (E467del)	Microsatellite	Familial hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 3582692	NM_000334.4(SCN4A):c.1438G>C (p.Glu480Gln)	SCN4A (E480Q)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582691	NM_000334.4(SCN4A):c.1452+1G>T	SCN4A	Single nucleotide variant (splice donor variant)	Congenital myopathy 22A, classic +6 more	GLikely pathogenic
Select item 3582690	NM_000334.4(SCN4A):c.1505A>G (p.His502Arg)	SCN4A (H502R)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582689	NM_000334.4(SCN4A):c.1533C>A (p.Asp511Glu)	SCN4A (D511E)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582688	NM_000334.4(SCN4A):c.1607A>T (p.Glu536Val)	SCN4A (E536V)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582687	NM_000334.4(SCN4A):c.1619C>T (p.Ala540Val)	SCN4A (A540V)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582686	NM_000334.4(SCN4A):c.1636C>T (p.Pro546Ser)	SCN4A (P546S)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582685	NM_000334.4(SCN4A):c.1666C>T (p.Leu556Phe)	SCN4A (L556F)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582684	NM_000334.4(SCN4A):c.1823A>G (p.Asn608Ser)	SCN4A (N608S)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582683	NM_000334.4(SCN4A):c.1897G>T (p.Asp633Tyr)	SCN4A (D633Y)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582682	NM_000334.4(SCN4A):c.2214C>A (p.Asn738Lys)	GH-LCR, SCN4A (N738K)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582681	NM_000334.4(SCN4A):c.2222G>A (p.Arg741His)	GH-LCR, SCN4A (R741H)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582680	NM_000334.4(SCN4A):c.2377-9A>C	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582679	NM_000334.4(SCN4A):c.2377-1G>A	GH-LCR, SCN4A	Single nucleotide variant (splice acceptor variant)	Congenital myopathy 22A, classic +6 more	GLikely pathogenic
Select item 3582678	NM_000334.4(SCN4A):c.2912A>G (p.Lys971Arg)	GH-LCR, SCN4A (K971R)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582677	NM_000334.4(SCN4A):c.3037C>G (p.Arg1013Gly)	GH-LCR, SCN4A (R1013G)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582676	NM_000334.4(SCN4A):c.3046A>C (p.Lys1016Gln)	GH-LCR, SCN4A (K1016Q)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582674	NM_000334.4(SCN4A):c.3095G>C (p.Trp1032Ser)	GH-LCR, SCN4A (W1032S)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 3582673	NM_000334.4(SCN4A):c.3096G>T (p.Trp1032Cys)	GH-LCR, SCN4A (W1032C)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582672	NM_000334.4(SCN4A):c.3110T>C (p.Ile1037Thr)	GH-LCR, SCN4A (I1037T)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582671	NM_000334.4(SCN4A):c.3163A>C (p.Ile1055Leu)	GH-LCR, SCN4A (I1055L)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582670	NM_000334.4(SCN4A):c.3203C>T (p.Ala1068Val)	GH-LCR, SCN4A (A1068V)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582669	NM_000334.4(SCN4A):c.3253G>T (p.Val1085Leu)	GH-LCR, SCN4A (V1085L)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582668	NM_000334.4(SCN4A):c.3284A>G (p.Asn1095Ser)	GH-LCR, SCN4A (N1095S)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582667	NM_000334.4(SCN4A):c.3310A>G (p.Ile1104Val)	GH-LCR, SCN4A (I1104V)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582666	NM_000334.4(SCN4A):c.3333C>G (p.Ser1111Arg)	GH-LCR, SCN4A (S1111R)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582665	NM_000334.4(SCN4A):c.3380C>T (p.Ser1127Phe)	GH-LCR, SCN4A (S1127F)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582664	NM_000334.4(SCN4A):c.3424C>G (p.Arg1142Gly)	GH-LCR, SCN4A (R1142G)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582663	NM_000334.4(SCN4A):c.3442-10T>A	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582662	NM_000334.4(SCN4A):c.3578C>T (p.Thr1193Ile)	GH-LCR, SCN4A (T1193I)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582661	NM_000334.4(SCN4A):c.3623A>G (p.Glu1208Gly)	GH-LCR, SCN4A (E1208G)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582659	NM_000334.4(SCN4A):c.3628G>C (p.Glu1210Gln)	GH-LCR, SCN4A (E1210Q)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582658	NM_000334.4(SCN4A):c.3633C>A (p.Ser1211Arg)	GH-LCR, SCN4A (S1211R)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582657	NM_000334.4(SCN4A):c.3636C>T (p.Leu1212=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582656	NM_000334.4(SCN4A):c.3637A>T (p.Met1213Leu)	GH-LCR, SCN4A (M1213L)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582655	NM_000334.4(SCN4A):c.3732G>A (p.Lys1244=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582654	NM_000334.4(SCN4A):c.3872T>A (p.Ile1291Asn)	GH-LCR, SCN4A (I1291N)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582653	NM_000334.4(SCN4A):c.3891C>T (p.Asn1297=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582651	NM_000334.4(SCN4A):c.4305C>T (p.Asp1435=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582649	NM_000334.4(SCN4A):c.4538T>C (p.Ile1513Thr)	GH-LCR, SCN4A (I1513T)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582648	NM_000334.4(SCN4A):c.4549T>A (p.Phe1517Ile)	GH-LCR, SCN4A (F1517I)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582647	NM_000334.4(SCN4A):c.4573A>G (p.Ser1525Gly)	GH-LCR, SCN4A (S1525G)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582646	NM_000334.4(SCN4A):c.4621C>A (p.Leu1541Ile)	GH-LCR, SCN4A (L1541I)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582645	NM_000334.4(SCN4A):c.4665del (p.Asn1556fs)	GH-LCR, SCN4A (N1556fs)	Deletion (frameshift variant)	Congenital myopathy 22A, classic +6 more	GLikely pathogenic
Select item 3582644	NM_000334.4(SCN4A):c.4668C>G (p.Asn1556Lys)	GH-LCR, SCN4A (N1556K)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582642	NM_000334.4(SCN4A):c.4764C>G (p.Ile1588Met)	GH-LCR, SCN4A (I1588M)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582641	NM_000334.4(SCN4A):c.4831C>A (p.Pro1611Thr)	GH-LCR, SCN4A (P1611T)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 3582640	NM_000334.4(SCN4A):c.4837G>C (p.Gly1613Arg)	GH-LCR, SCN4A (G1613R)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582639	NM_000334.4(SCN4A):c.4886C>A (p.Pro1629His)	GH-LCR, SCN4A (P1629H)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582638	NM_000334.4(SCN4A):c.4916G>T (p.Arg1639Leu)	GH-LCR, SCN4A (R1639L)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582637	NM_000334.4(SCN4A):c.4955G>T (p.Arg1652Met)	GH-LCR, SCN4A (R1652M)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582636	NM_000334.4(SCN4A):c.5009C>T (p.Pro1670Leu)	GH-LCR, SCN4A (P1670L)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582635	NM_000334.4(SCN4A):c.5061_5062insAGGTGACT (p.Leu1688delinsArgTer)	GH-LCR, SCN4A	Insertion (nonsense)	Congenital myopathy 22A, classic +6 more	GLikely pathogenic
Select item 3582634	NM_000334.4(SCN4A):c.5146G>A (p.Glu1716Lys)	GH-LCR, SCN4A (E1716K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GUncertain significance
Select item 3582633	NM_000334.4(SCN4A):c.5152A>G (p.Ile1718Val)	GH-LCR, SCN4A (I1718V)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582632	NM_000334.4(SCN4A):c.5156C>A (p.Thr1719Asn)	GH-LCR, SCN4A (T1719N)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582631	NM_000334.4(SCN4A):c.5297C>T (p.Pro1766Leu)	GH-LCR, SCN4A (P1766L)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582630	NM_000334.4(SCN4A):c.5327T>C (p.Met1776Thr)	GH-LCR, SCN4A (M1776T)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582629	NM_000334.4(SCN4A):c.5359AGC[1] (p.Ser1789del)	GH-LCR, SCN4A (S1789del)	Microsatellite	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582628	NM_000334.4(SCN4A):c.5398G>T (p.Asp1800Tyr)	GH-LCR, SCN4A (D1800Y)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582627	NM_000334.4(SCN4A):c.5431_5434dup (p.Pro1812fs)	GH-LCR, SCN4A (P1812fs)	Duplication (frameshift variant)	Congenital myopathy 22A, classic +6 more	GLikely pathogenic
Select item 3582625	NM_000334.4(SCN4A):c.5468C>T (p.Pro1823Leu)	GH-LCR, SCN4A (P1823L)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582624	NM_000334.4(SCN4A):c.5474A>T (p.Gln1825Leu)	GH-LCR, SCN4A (Q1825L)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +6 more	GUncertain significance
Select item 3582623	NM_000334.4(SCN4A):c.*1C>T	GH-LCR, SCN4A	Single nucleotide variant (3 prime UTR variant)	Congenital myopathy 22A, classic +6 more	GLikely benign
Select item 3382966	NM_000334.4(SCN4A):c.32C>T (p.Pro11Leu)	SCN4A (P11L)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +4 more	GUncertain significance
Select item 3381979	NM_000334.4(SCN4A):c.1166del (p.Tyr389fs)	SCN4A (Y389fs)	Deletion (frameshift variant)	Paramyotonia congenita of Von Eulenburg +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)	Paramyotonia congenita of Von Eulenburg +6 more	GUncertain significance
Select item 3370203	NM_000334.4(SCN4A):c.2960G>A (p.Gly987Glu)	GH-LCR, SCN4A (G987E)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 3251945	NM_000334.4(SCN4A):c.4243G>A (p.Gly1415Ser)	GH-LCR, SCN4A (G1415S)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +6 more	GUncertain significance
Select item 3158535	NM_000334.4(SCN4A):c.1480G>A (p.Gly494Arg)	SCN4A (G494R)	Single nucleotide variant (missense variant)	Congenital myopathy 22A, classic +7 more	GUncertain significance
Select item 3065633	NM_000334.4(SCN4A):c.4204C>T (p.Leu1402Phe)	GH-LCR, SCN4A (L1402F)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 16 +6 more	GConflicting classifications of pathogenicity
Select item 2981006	NM_000334.4(SCN4A):c.1270A>G (p.Met424Val)	SCN4A (M424V)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia +6 more	GUncertain significance
Select item 2920444	NM_000334.4(SCN4A):c.2377G>T (p.Val793Phe)	SCN4A, GH-LCR (V793F)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +6 more	GUncertain significance
Select item 2872545	NM_000334.4(SCN4A):c.3454G>A (p.Ala1152Thr)	GH-LCR, SCN4A (A1152T)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +6 more	GUncertain significance

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