ClinVar for MedGen (Select 220903) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246666	NC_000004.11:g.(?_3488757)_(3495159_?)del	DOK7	Deletion	Congenital myasthenic syndrome 10 +1 more	GUncertain significance
Select item 3246665	NC_000004.11:g.(?_3478200)_(3482970_?)del	DOK7	Deletion	Congenital myasthenic syndrome 10 +1 more	GPathogenic
Select item 3246664	NC_000004.11:g.(?_3478049)_(3478289_?)del	DOK7	Deletion	Congenital myasthenic syndrome 10 +1 more	GPathogenic
Select item 3246663	NC_000004.11:g.(?_2822345)_(3495228_?)del	ADD1, DOK7 +8 more	Deletion	Congenital myasthenic syndrome 10 +1 more	GPathogenic
Select item 3245265	NC_000009.11:g.(?_113547866)_(113548336_?)del	MUSK	Deletion	Congenital myasthenic syndrome 9 +1 more	GLikely pathogenic
Select item 3245264	NC_000009.11:g.(?_113538048)_(113538955_?)del	MUSK	Deletion	Congenital myasthenic syndrome 9 +1 more	GPathogenic
Select item 3245263	NC_000009.11:g.(?_113449377)_(113449568_?)del	MUSK	Deletion	Congenital myasthenic syndrome 9 +1 more	GPathogenic
Select item 3245262	NC_000009.11:g.(?_113547787)_(113548018_?)del	MUSK	Deletion	Congenital myasthenic syndrome 9 +1 more	GPathogenic
Select item 3244680	NC_000011.9:g.(?_47455479)_(47460424_?)del	RAPSN	Deletion	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 3244679	NC_000011.9:g.(?_47459516)_(47464376_?)del	RAPSN	Deletion	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 2954022	NM_173660.5(DOK7):c.958A>T (p.Lys320Ter)	DOK7 (K10* +2 more)	Single nucleotide variant (nonsense +1 more)	Congenital myasthenic syndrome 10 +1 more	GPathogenic
Select item 2953820	NM_005055.5(RAPSN):c.1166+14G>A	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2953803	NM_173660.5(DOK7):c.54+13C>A	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2953785	NM_005592.4(MUSK):c.90C>T (p.Ile30=)	MUSK	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2953752	NM_005592.4(MUSK):c.81_84del (p.Pro28fs)	MUSK (P28fs)	Deletion (frameshift variant)	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 2953726	NM_173660.5(DOK7):c.66_69dup (p.Leu24fs)	DOK7 (L24fs)	Duplication (frameshift variant)	Congenital myasthenic syndrome 10 +1 more	GPathogenic
Select item 2953622	NM_173660.5(DOK7):c.652+20C>G	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2953619	NM_005055.5(RAPSN):c.531+19G>C	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2953509	NM_173660.5(DOK7):c.618C>A (p.Thr206=)	DOK7 (Q203K)	Single nucleotide variant (missense variant +2 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2953478	NM_005592.4(MUSK):c.1778+19A>C	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2953317	NM_005592.4(MUSK):c.1586+7T>C	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2953304	NM_005055.5(RAPSN):c.1050G>C (p.Val350=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2953282	NM_005055.5(RAPSN):c.280del (p.Glu94fs)	RAPSN (E94fs)	Deletion (frameshift variant)	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 2953242	NM_173660.5(DOK7):c.999G>A (p.Gln333=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2953223	NM_005592.4(MUSK):c.2192del (p.Cys731fs)	MUSK (C645fs +3 more)	Deletion (frameshift variant)	Congenital myasthenic syndrome 9 +1 more	GPathogenic
Select item 2953184	NM_005592.4(MUSK):c.1592C>G (p.Ser531Ter)	MUSK (S445* +3 more)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 9 +1 more	GPathogenic
Select item 2953085	NM_005055.5(RAPSN):c.193-16C>T	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2953074	NM_005592.4(MUSK):c.2122C>T (p.Gln708Ter)	MUSK (Q288* +3 more)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 9 +1 more	GPathogenic
Select item 2953073	NM_173660.5(DOK7):c.1251C>T (p.Asp417=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2953053	NM_173660.5(DOK7):c.297G>T (p.Ala99=)	DOK7	Single nucleotide variant (synonymous variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2952882	NM_005055.5(RAPSN):c.885C>A (p.Cys295Ter)	RAPSN (C295*)	Single nucleotide variant (nonsense +1 more)	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 2952861	NM_005055.5(RAPSN):c.639C>T (p.Ala213=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2952857	NM_173660.5(DOK7):c.1359C>T (p.Gly453=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2952829	NM_005592.4(MUSK):c.675T>C (p.Phe225=)	MUSK	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2952720	NM_005592.4(MUSK):c.222G>C (p.Arg74=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2952716	NM_173660.5(DOK7):c.924G>C (p.Gly308=)	DOK7	Single nucleotide variant (3 prime UTR variant +2 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2952641	NM_173660.5(DOK7):c.298dup (p.Trp100fs)	DOK7 (W100fs)	Duplication (frameshift variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 2952631	NM_005055.5(RAPSN):c.450G>A (p.Leu150=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2952605	NM_005055.5(RAPSN):c.189G>A (p.Leu63=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2952547	NM_005055.5(RAPSN):c.648T>C (p.Tyr216=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2952415	NM_005592.4(MUSK):c.80-9T>C	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2952376	NM_005592.4(MUSK):c.234G>A (p.Arg78=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2952291	NM_005592.4(MUSK):c.1605C>A (p.Thr535=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2952278	NM_005592.4(MUSK):c.359-16T>G	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2952232	NM_005592.4(MUSK):c.1455C>T (p.Ser485=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2952064	NM_173660.5(DOK7):c.332-15C>T	DOK7	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2952044	NM_005592.4(MUSK):c.759T>C (p.Ser253=)	MUSK	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2951981	NM_005592.4(MUSK):c.790C>T (p.Arg264Ter)	MUSK (R274* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital myasthenic syndrome 9 +1 more	GPathogenic
Select item 2951791	NM_173660.5(DOK7):c.789G>A (p.Leu263=)	DOK7	Single nucleotide variant (3 prime UTR variant +2 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2951768	NM_173660.5(DOK7):c.54+8_54+17dup	DOK7	Duplication (splice donor variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2951737	NM_173660.5(DOK7):c.714C>T (p.Thr238=)	DOK7, LOC129992118 (P235S)	Single nucleotide variant (missense variant +2 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2951589	NM_005055.5(RAPSN):c.226C>T (p.Leu76=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2951562	NM_005592.4(MUSK):c.2394T>C (p.Tyr798=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2951477	NM_173660.5(DOK7):c.1239G>A (p.Leu413=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2951454	NM_005592.4(MUSK):c.1185-7A>G	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2951412	NM_005055.5(RAPSN):c.66A>C (p.Thr22=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2951345	NM_005592.4(MUSK):c.738T>A (p.Ile246=)	MUSK	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2951296	NM_173660.5(DOK7):c.653-20G>C	DOK7	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2951184	NM_173660.5(DOK7):c.1514G>A (p.Ter505=)	DOK7	Single nucleotide variant (3 prime UTR variant +2 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2951167	NM_005592.4(MUSK):c.417C>G (p.Val139=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2950988	NM_173660.5(DOK7):c.852G>A (p.Trp284Ter)	DOK7 (W140* +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 2950907	NM_173660.5(DOK7):c.1275C>T (p.Ser425=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2950773	NM_173660.5(DOK7):c.331+15C>G	DOK7	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2950728	NM_005592.4(MUSK):c.1360+18C>T	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2950696	NM_005055.5(RAPSN):c.558C>G (p.Pro186=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2950608	NM_173660.5(DOK7):c.1467T>C (p.Phe489=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2950581	NM_005592.4(MUSK):c.1698C>G (p.Leu566=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2950503	NM_005055.5(RAPSN):c.495G>A (p.Val165=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2950484	NM_005055.5(RAPSN):c.177C>A (p.Tyr59Ter)	RAPSN (Y59*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 11 +1 more	GPathogenic
Select item 2950453	NM_173660.5(DOK7):c.390C>G (p.Thr130=)	DOK7	Single nucleotide variant (synonymous variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2950349	NM_005592.4(MUSK):c.2463C>T (p.Leu821=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2950271	NM_005055.5(RAPSN):c.522C>T (p.Ala174=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2950243	NM_173660.5(DOK7):c.840G>C (p.Arg280=)	DOK7	Single nucleotide variant (3 prime UTR variant +2 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2950060	NM_173660.5(DOK7):c.714C>A (p.Thr238=)	DOK7, LOC129992118 (P235T)	Single nucleotide variant (missense variant +2 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2949740	NM_005592.4(MUSK):c.1587-5T>G	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2949671	NM_173660.5(DOK7):c.1038C>A (p.Ser346=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2949650	NM_005592.4(MUSK):c.276T>C (p.Ser92=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2949622	NM_005055.5(RAPSN):c.354T>G (p.Gly118=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2949597	NM_005592.4(MUSK):c.1927+8A>C	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2949503	NM_005592.4(MUSK):c.252C>G (p.Leu84=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2949439	NM_005592.4(MUSK):c.1361-13C>A	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2949420	NM_005592.4(MUSK):c.496C>A (p.Arg166=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2949414	NM_005592.4(MUSK):c.1384del (p.Thr462fs)	MUSK (T462fs)	Deletion (frameshift variant +1 more)	Congenital myasthenic syndrome 9 +1 more	GPathogenic
Select item 2949331	NM_005592.4(MUSK):c.114T>A (p.Asp38Glu)	MUSK (D38E)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 9 +1 more	GLikely pathogenic
Select item 2949300	NM_005592.4(MUSK):c.358+9G>A	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2949283	NM_173660.5(DOK7):c.657A>G (p.Pro219=)	DOK7 (K216E)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2949119	NM_005592.4(MUSK):c.765G>A (p.Gly255=)	MUSK	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2949117	NM_173660.5(DOK7):c.54+25G>T	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2949109	NM_005055.5(RAPSN):c.733C>T (p.Gln245Ter)	RAPSN (Q245*)	Single nucleotide variant (nonsense)	Fetal akinesia deformation sequence 2 +2 more	GPathogenic/Likely pathogenic
Select item 2949047	NM_005592.4(MUSK):c.358+18T>C	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2949026	NM_005592.4(MUSK):c.1005T>A (p.Val335=)	MUSK	Single nucleotide variant (5 prime UTR variant +2 more)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2949013	NM_173660.5(DOK7):c.54+23_54+24insCG	DOK7	Insertion (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2949011	NM_173660.5(DOK7):c.496G>T (p.Gly166Ter)	DOK7 (G166*)	Single nucleotide variant (nonsense +1 more)	Congenital myasthenic syndrome 10 +1 more	GPathogenic
Select item 2948939	NM_173660.5(DOK7):c.468C>T (p.Asp156=)	DOK7	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2948829	NM_005055.5(RAPSN):c.259C>T (p.Leu87=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2948695	NM_005592.4(MUSK):c.1928-14T>C	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2948534	NM_005592.4(MUSK):c.79+14A>G	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2948507	NM_173660.5(DOK7):c.668dup (p.Pro224fs)	DOK7 (P224fs +2 more)	Duplication (frameshift variant +1 more)	Congenital myasthenic syndrome 10 +1 more	GPathogenic
Select item 2948468	NM_173660.5(DOK7):c.100+11C>T	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2948387	NM_173660.5(DOK7):c.331+14G>T	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign

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