ClinVar for MedGen (Select 220903) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24419731.	NM_005592.4(MUSK):c.1673C>T (p.Pro558Leu) GRCh37: Chr9:113547893 GRCh38: Chr9:110785613	MUSK	P138L, P462L, P472L, P558L	Fetal akinesia deformation sequence 1	Uncertain significance (May 9, 2021)	criteria provided, single submitter
Select item 24280922.	NM_005055.5(RAPSN):c.675C>T (p.Ala225=) GRCh37: Chr11:47464223 GRCh38: Chr11:47442671	RAPSN		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 24275113.	NC_000004.11:g.(?_3465103)_(3495228_?)dup GRCh37: Chr4:3465103-3495228	DOK7		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 24275104.	NC_000004.11:g.(?_3494466)_(3495228_?)del GRCh37: Chr4:3494466-3495228	DOK7		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10	Pathogenic (Jun 12, 2022)	criteria provided, single submitter
Select item 24253815.	NC_000009.11:g.(?_113431185)_(113459766_?)dup GRCh37: Chr9:113431185-113459766	MUSK		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9	Uncertain significance (Nov 2, 2021)	criteria provided, single submitter
Select item 24253806.	NC_000009.11:g.(?_113006437)_(113563268_?)dup GRCh37: Chr9:113006437-113563268	MUSK, SVEP1, TXN, TXNDC8		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 24253797.	NC_000009.11:g.(?_113509901)_(113538955_?)del GRCh37: Chr9:113509901-113538955	MUSK		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9	Pathogenic (Dec 11, 2021)	criteria provided, single submitter
Select item 24253788.	NC_000009.11:g.(?_113444934)_(113449568_?)del GRCh37: Chr9:113444934-113449568	MUSK		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9	Pathogenic (Dec 1, 2021)	criteria provided, single submitter
Select item 24252909.	NC_000011.9:g.(?_47469354)_(47470726_?)del GRCh37: Chr11:47469354-47470726	RAPSN		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Pathogenic (Jul 21, 2022)	criteria provided, single submitter
Select item 242528910.	NC_000011.9:g.(?_47467519)_(47469609_?)del GRCh37: Chr11:47467519-47469609	RAPSN		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Pathogenic (Nov 3, 2021)	criteria provided, single submitter
Select item 242528711.	NC_000011.9:g.(?_47462700)_(47463483_?)del GRCh37: Chr11:47462700-47463483	RAPSN		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Pathogenic (Sep 24, 2022)	criteria provided, single submitter
Select item 242528612.	NC_000011.9:g.(?_47459516)_(47459608_?)del GRCh37: Chr11:47459516-47459608	RAPSN		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Pathogenic (Jun 28, 2022)	criteria provided, single submitter
Select item 242528513.	NC_000011.9:g.(?_47460273)_(47460492_?)del GRCh37: Chr11:47460273-47460492	RAPSN		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Pathogenic (Aug 7, 2022)	criteria provided, single submitter
Select item 242144714.	NM_173660.5(DOK7):c.858G>A (p.Glu286=) GRCh37: Chr4:3494571 GRCh38: Chr4:3492844	DOK7		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 242091815.	NM_173660.5(DOK7):c.731G>A (p.Arg244Gln) GRCh37: Chr4:3491482 GRCh38: Chr4:3489755	DOK7	R100Q, R244Q	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10, not provided	Uncertain significance (Dec 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 242057416.	NM_005055.5(RAPSN):c.1166+1G>T GRCh37: Chr11:47460282 GRCh38: Chr11:47438731	RAPSN		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Pathogenic (Jun 27, 2022)	criteria provided, single submitter
Select item 241982317.	NM_173660.5(DOK7):c.656C>G (p.Pro219Arg) GRCh37: Chr4:3491407 GRCh38: Chr4:3489680	DOK7	P219R, P75R	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 241980818.	NM_173660.5(DOK7):c.446C>T (p.Thr149Met) GRCh37: Chr4:3478183 GRCh38: Chr4:3476456	DOK7	T149M	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 241379119.	NM_005055.5(RAPSN):c.282G>C (p.Glu94Asp) GRCh37: Chr11:47469613 GRCh38: Chr11:47448061	RAPSN	E94D	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 241351720.	NM_173660.5(DOK7):c.1367dup (p.Met456fs) GRCh37: Chr4:3495079-3495080 GRCh38: Chr4:3493352-3493353	DOK7	M146fs, M312fs, M456fs	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10	Pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 241341021.	NM_005592.4(MUSK):c.920+1G>A GRCh37: Chr9:113524489 GRCh38: Chr9:110762209	MUSK		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9	Likely pathogenic (Oct 20, 2022)	criteria provided, single submitter
Select item 220350522.	NM_173660.5(DOK7):c.1361_1374del (p.Leu454fs) GRCh37: Chr4:3495070-3495083 GRCh38: Chr4:3493343-3493356	DOK7	L310fs, L144fs, L454fs	Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1	Pathogenic (May 3, 2022)	criteria provided, single submitter
Select item 220350423.	NM_173660.5(DOK7):c.1001_1011dup (p.Ser338fs) GRCh37: Chr4:3494713-3494714 GRCh38: Chr4:3492986-3492987	DOK7	S194fs, S28fs, S338fs	Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 220350324.	NM_173660.5(DOK7):c.98C>T (p.Ala33Val) GRCh37: Chr4:3465276 GRCh38: Chr4:3463549	DOK7	A33V	Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 220051725.	NM_005592.4(MUSK):c.7G>A (p.Glu3Lys) GRCh37: Chr9:113431191 GRCh38: Chr9:110668911	MUSK	E3K	Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1, Inborn genetic diseases	Uncertain significance (Nov 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219928726.	NM_005592.4(MUSK):c.486+22del GRCh37: Chr9:113457829 GRCh38: Chr9:110695549	MUSK		Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1	Benign (Jul 22, 2022)	criteria provided, single submitter
Select item 219841027.	NM_173660.5(DOK7):c.332-95_332-18del GRCh37: Chr4:3477974-3478051 GRCh38: Chr4:3476247-3476324	DOK7		Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 219727928.	NM_005592.4(MUSK):c.1778G>C (p.Arg593Thr) GRCh37: Chr9:113547998 GRCh38: Chr9:110785718	MUSK	R173T, R593T, R497T, R507T	Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1, not provided	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219699829.	NM_005055.5(RAPSN):c.1166+7G>A GRCh37: Chr11:47460276 GRCh38: Chr11:47438725	RAPSN		Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 219689930.	NM_173660.5(DOK7):c.717A>G (p.Leu239=) GRCh37: Chr4:3491468 GRCh38: Chr4:3489741	DOK7	T236A	Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1	Likely benign (Apr 26, 2022)	criteria provided, single submitter
Select item 219435831.	NM_005055.5(RAPSN):c.1114G>A (p.Glu372Lys) GRCh37: Chr11:47460335 GRCh38: Chr11:47438784	RAPSN	E313K, E372K	Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 219380832.	NM_005592.4(MUSK):c.568T>C (p.Cys190Arg) GRCh37: Chr9:113459686 GRCh38: Chr9:110697406	MUSK	C190R	Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1, not provided	Uncertain significance (Feb 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219380533.	NM_173660.5(DOK7):c.724G>C (p.Glu242Gln) GRCh37: Chr4:3491475 GRCh38: Chr4:3489748	DOK7	E242Q, G238A, E98Q	Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 219358534.	NM_173660.5(DOK7):c.1155G>A (p.Leu385=) GRCh37: Chr4:3494868 GRCh38: Chr4:3493141	DOK7		Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 219285635.	NM_005592.4(MUSK):c.1606C>G (p.Leu536Val) GRCh37: Chr9:113547826 GRCh38: Chr9:110785546	MUSK	L450V, L536V, L116V, L440V	Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 218838536.	NM_173660.5(DOK7):c.772+13G>A GRCh37: Chr4:3491536 GRCh38: Chr4:3489809	DOK7		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 218822937.	NM_005055.5(RAPSN):c.495G>C (p.Val165=) GRCh37: Chr11:47469400 GRCh38: Chr11:47447848	RAPSN		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 218772638.	NM_005055.5(RAPSN):c.1030G>A (p.Glu344Lys) GRCh37: Chr11:47460419 GRCh38: Chr11:47438868	RAPSN	E285K, E344K	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 218548439.	NM_005055.5(RAPSN):c.1071G>A (p.Glu357=) GRCh37: Chr11:47460378 GRCh38: Chr11:47438827	RAPSN		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 218541940.	NM_005592.4(MUSK):c.108A>G (p.Thr36=) GRCh37: Chr9:113444982 GRCh38: Chr9:110682702	MUSK		Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1	Likely benign (Mar 24, 2022)	criteria provided, single submitter
Select item 218299541.	NM_005055.5(RAPSN):c.193-8G>T GRCh37: Chr11:47469710 GRCh38: Chr11:47448158	RAPSN		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 218106442.	NM_173660.5(DOK7):c.1262C>T (p.Pro421Leu) GRCh37: Chr4:3494975 GRCh38: Chr4:3493248	DOK7	P421L, P111L, P277L	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 217860943.	NM_173660.5(DOK7):c.383C>G (p.Pro128Arg) GRCh37: Chr4:3478120 GRCh38: Chr4:3476393	DOK7	P128R	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10	Uncertain significance (Apr 14, 2022)	criteria provided, single submitter
Select item 217847244.	NM_173660.5(DOK7):c.1285A>G (p.Ser429Gly) GRCh37: Chr4:3494998 GRCh38: Chr4:3493271	DOK7	S119G, S285G, S429G	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 217793845.	NM_173660.5(DOK7):c.174G>A (p.Thr58=) GRCh37: Chr4:3475206 GRCh38: Chr4:3473479	DOK7		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 217756846.	NM_005055.5(RAPSN):c.251A>C (p.Glu84Ala) GRCh37: Chr11:47469644 GRCh38: Chr11:47448092	RAPSN	E84A	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter
Select item 217655747.	NM_005055.5(RAPSN):c.1167-8C>T GRCh37: Chr11:47459606 GRCh38: Chr11:47438055	RAPSN		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Likely benign (Jan 2, 2022)	criteria provided, single submitter
Select item 217612048.	NM_005592.4(MUSK):c.503C>T (p.Ala168Val) GRCh37: Chr9:113459621 GRCh38: Chr9:110697341	MUSK	A168V	Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 217515049.	NM_005055.5(RAPSN):c.133G>T (p.Val45Leu) GRCh37: Chr11:47470384 GRCh38: Chr11:47448832	RAPSN	V45L	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Likely pathogenic (Aug 27, 2022)	criteria provided, single submitter
Select item 217335050.	NM_005055.5(RAPSN):c.29T>C (p.Ile10Thr) GRCh37: Chr11:47470488 GRCh38: Chr11:47448936	RAPSN	I10T	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 217300651.	NM_173660.5(DOK7):c.447G>A (p.Thr149=) GRCh37: Chr4:3478184 GRCh38: Chr4:3476457	DOK7		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 217164552.	NM_005592.4(MUSK):c.206+20A>T GRCh37: Chr9:113445100 GRCh38: Chr9:110682820	MUSK		Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 217095653.	NM_005592.4(MUSK):c.1235T>C (p.Val412Ala) GRCh37: Chr9:113538118 GRCh38: Chr9:110775838	MUSK	V324A, V334A, V412A	Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 217019754.	NM_173660.5(DOK7):c.540C>T (p.Gly180=) GRCh37: Chr4:3487273 GRCh38: Chr4:3485546	DOK7, LOC126806951	R177C	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 216835155.	NM_005592.4(MUSK):c.2262C>G (p.Asp754Glu) GRCh37: Chr9:113562920 GRCh38: Chr9:110800640	MUSK	D754E, D334E, D658E, D668E	Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 216801656.	NM_005055.5(RAPSN):c.1077G>C (p.Thr359=) GRCh37: Chr11:47460372 GRCh38: Chr11:47438821	RAPSN		Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 216671157.	NM_005592.4(MUSK):c.2103G>A (p.Glu701=) GRCh37: Chr9:113562761 GRCh38: Chr9:110800481	MUSK		Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 216608058.	NM_005055.5(RAPSN):c.3G>T (p.Met1Ile) GRCh37: Chr11:47470514 GRCh38: Chr11:47448962	RAPSN	M1I	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 216593459.	NM_005055.5(RAPSN):c.115C>G (p.Leu39Val) GRCh37: Chr11:47470402 GRCh38: Chr11:47448850	RAPSN	L39V	Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 216575960.	NM_173660.5(DOK7):c.1171G>T (p.Gly391Trp) GRCh37: Chr4:3494884 GRCh38: Chr4:3493157	DOK7	G81W, G391W, G247W	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10	Uncertain significance (Apr 27, 2022)	criteria provided, single submitter
Select item 216543761.	NM_005592.4(MUSK):c.1540A>C (p.Thr514Pro) GRCh37: Chr9:113547250 GRCh38: Chr9:110784970	MUSK	T428P, T418P, T514P, T94P	Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 216312462.	NM_005055.5(RAPSN):c.1166+2T>G GRCh37: Chr11:47460281 GRCh38: Chr11:47438730	RAPSN		Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 216303063.	NM_005055.5(RAPSN):c.1127G>T (p.Arg376Leu) GRCh37: Chr11:47460322 GRCh38: Chr11:47438771	RAPSN	R376L, R317L	Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 216266064.	NM_173660.5(DOK7):c.173C>T (p.Thr58Met) GRCh37: Chr4:3475205 GRCh38: Chr4:3473478	DOK7	T58M	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10	Uncertain significance (Jan 7, 2022)	criteria provided, single submitter
Select item 216188065.	NM_173660.5(DOK7):c.55-38G>A GRCh37: Chr4:3465195 GRCh38: Chr4:3463468	DOK7		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 216144566.	NM_005055.5(RAPSN):c.570A>T (p.Ala190=) GRCh37: Chr11:47464328 GRCh38: Chr11:47442776	RAPSN		Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 216129367.	NM_005592.4(MUSK):c.1462G>T (p.Val488Phe) GRCh37: Chr9:113547172 GRCh38: Chr9:110784892	MUSK	V402F, V68F, V392F, V488F	Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 215816568.	NM_173660.5(DOK7):c.727A>G (p.Lys243Glu) GRCh37: Chr4:3491478 GRCh38: Chr4:3489751	DOK7	K243E, K99E, E239G	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 215795569.	NM_173660.5(DOK7):c.1059G>C (p.Ser353=) GRCh37: Chr4:3494772 GRCh38: Chr4:3493045	DOK7		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 215786370.	NM_005055.5(RAPSN):c.1183G>T (p.Gly395Trp) GRCh37: Chr11:47459582 GRCh38: Chr11:47438031	RAPSN	G336W, G395W	Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 215760671.	NM_005592.4(MUSK):c.1220C>T (p.Ala407Val) GRCh37: Chr9:113538103 GRCh38: Chr9:110775823	MUSK	A407V, A319V, A329V	Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 215630872.	NM_005055.5(RAPSN):c.339T>C (p.Pro113=) GRCh37: Chr11:47469556 GRCh38: Chr11:47448004	RAPSN		Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 215628473.	NM_005592.4(MUSK):c.920+11_920+12del GRCh37: Chr9:113524498-113524499 GRCh38: Chr9:110762218-110762219	MUSK		Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 215578274.	NM_005055.5(RAPSN):c.680A>G (p.Glu227Gly) GRCh37: Chr11:47464218 GRCh38: Chr11:47442666	RAPSN	E227G	Inborn genetic diseases, Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1	Uncertain significance (May 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215574675.	NM_005055.5(RAPSN):c.1166+10C>T GRCh37: Chr11:47460273 GRCh38: Chr11:47438722	RAPSN		Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1	Likely benign (Jan 21, 2022)	criteria provided, single submitter
Select item 215572376.	NM_173660.5(DOK7):c.100+17G>A GRCh37: Chr4:3465295 GRCh38: Chr4:3463568	DOK7		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10	Likely benign (Dec 28, 2021)	criteria provided, single submitter
Select item 215462377.	NM_005592.4(MUSK):c.2023G>A (p.Val675Met) GRCh37: Chr9:113562681 GRCh38: Chr9:110800401	MUSK	V675M, V255M, V579M, V589M	Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1, not provided	Uncertain significance (May 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215439778.	NM_005055.5(RAPSN):c.770G>A (p.Arg257Gln) GRCh37: Chr11:47463394 GRCh38: Chr11:47441842	RAPSN	R257Q	Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 215210779.	NM_005055.5(RAPSN):c.1166+1G>C GRCh37: Chr11:47460282 GRCh38: Chr11:47438731	RAPSN		Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1	Pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 215048380.	NM_005055.5(RAPSN):c.1171C>T (p.Leu391=) GRCh37: Chr11:47459594 GRCh38: Chr11:47438043	RAPSN		Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 214965981.	NM_005055.5(RAPSN):c.192+5G>T GRCh37: Chr11:47470320 GRCh38: Chr11:47448768	RAPSN		Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 214912682.	NM_005592.4(MUSK):c.2367C>T (p.Gly789=) GRCh37: Chr9:113563025 GRCh38: Chr9:110800745	MUSK		Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 214911483.	NM_173660.5(DOK7):c.532+4A>C GRCh37: Chr4:3478273 GRCh38: Chr4:3476546	DOK7		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 214855584.	NM_173660.5(DOK7):c.657A>T (p.Pro219=) GRCh37: Chr4:3491408 GRCh38: Chr4:3489681	DOK7	K216*	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 214844585.	NM_173660.5(DOK7):c.55-12C>G GRCh37: Chr4:3465221 GRCh38: Chr4:3463494	DOK7		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 214773486.	NM_173660.5(DOK7):c.1211A>G (p.His404Arg) GRCh37: Chr4:3494924 GRCh38: Chr4:3493197	DOK7	H404R, H260R, H94R	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 214686187.	NM_173660.5(DOK7):c.987G>A (p.Glu329=) GRCh37: Chr4:3494700 GRCh38: Chr4:3492973	DOK7		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 214610688.	NM_173660.5(DOK7):c.230C>G (p.Thr77Arg) GRCh37: Chr4:3475262 GRCh38: Chr4:3473535	DOK7	T77R	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 214513189.	NM_005592.4(MUSK):c.358+20G>C GRCh37: Chr9:113449568 GRCh38: Chr9:110687288	MUSK		Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 214511290.	NM_005055.5(RAPSN):c.595G>T (p.Gly199Cys) GRCh37: Chr11:47464303 GRCh38: Chr11:47442751	RAPSN	G199C	Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 214467791.	NM_173660.5(DOK7):c.987G>C (p.Glu329Asp) GRCh37: Chr4:3494700 GRCh38: Chr4:3492973	DOK7	E185D, E19D, E329D	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 214433092.	NM_005592.4(MUSK):c.263G>A (p.Ser88Asn) GRCh37: Chr9:113449453 GRCh38: Chr9:110687173	MUSK	S88N	Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 214412893.	NM_005592.4(MUSK):c.1599A>G (p.Ala533=) GRCh37: Chr9:113547819 GRCh38: Chr9:110785539	MUSK		Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 214401794.	NM_173660.5(DOK7):c.332-18T>A GRCh37: Chr4:3478051 GRCh38: Chr4:3476324	DOK7		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 214365395.	NM_005592.4(MUSK):c.79+20T>C GRCh37: Chr9:113431283 GRCh38: Chr9:110669003	MUSK		Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 214319796.	NM_005592.4(MUSK):c.1841A>C (p.Glu614Ala) GRCh37: Chr9:113550032 GRCh38: Chr9:110787752	MUSK	E528A, E194A, E518A, E614A	Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 214310997.	NM_173660.5(DOK7):c.210C>G (p.Pro70=) GRCh37: Chr4:3475242 GRCh38: Chr4:3473515	DOK7		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 213989398.	NM_005055.5(RAPSN):c.600G>C (p.Trp200Cys) GRCh37: Chr11:47464298 GRCh38: Chr11:47442746	RAPSN	W200C	Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1, not provided	Uncertain significance (Nov 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213903399.	NM_005592.4(MUSK):c.2358G>A (p.Trp786Ter) GRCh37: Chr9:113563016 GRCh38: Chr9:110800736	MUSK	W366, W690, W700, W786	Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1	Pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 2138914100.	NM_005055.5(RAPSN):c.1062G>C (p.Glu354Asp) GRCh37: Chr11:47460387 GRCh38: Chr11:47438836	RAPSN	E295D, E354D	Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter

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