ClinVar for MedGen (Select 902189) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359227	NM_005055.5(RAPSN):c.264C>G (p.Asn88Lys)	RAPSN (N88K)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11	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 3236661	NM_005055.5(RAPSN):c.677T>A (p.Met226Lys)	RAPSN (M226K)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11	GUncertain significance
Select item 3065636	NM_005055.5(RAPSN):c.976C>T (p.Leu326Phe)	RAPSN (L267F +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11	GUncertain significance
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 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 2953304	NM_005055.5(RAPSN):c.1050G>C (p.Val350=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2953282	NM_005055.5(RAPSN):c.280del (p.Glu94fs)	RAPSN (E94fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 11 +1 more	GPathogenic
Select item 2953085	NM_005055.5(RAPSN):c.193-16C>T	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2952882	NM_005055.5(RAPSN):c.885C>A (p.Cys295Ter)	RAPSN (C295*)	Single nucleotide variant (nonsense +1 more)	Congenital myasthenic syndrome 11 +1 more	GPathogenic
Select item 2952861	NM_005055.5(RAPSN):c.639C>T (p.Ala213=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2952631	NM_005055.5(RAPSN):c.450G>A (p.Leu150=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2952605	NM_005055.5(RAPSN):c.189G>A (p.Leu63=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2952547	NM_005055.5(RAPSN):c.648T>C (p.Tyr216=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +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 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 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 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 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 2949622	NM_005055.5(RAPSN):c.354T>G (p.Gly118=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +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 2948829	NM_005055.5(RAPSN):c.259C>T (p.Leu87=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2948217	NM_005055.5(RAPSN):c.967-4C>G	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2947780	NM_005055.5(RAPSN):c.867G>A (p.Leu289=)	RAPSN	Single nucleotide variant (synonymous variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2947555	NM_005055.5(RAPSN):c.531+17G>C	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2947492	NM_005055.5(RAPSN):c.193-12C>T	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2947366	NM_005055.5(RAPSN):c.789+17G>T	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2947189	NM_005055.5(RAPSN):c.531+17G>A	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2947056	NM_005055.5(RAPSN):c.790-12C>G	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2946679	NM_005055.5(RAPSN):c.531+15C>G	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2946234	NM_005055.5(RAPSN):c.652_655dup (p.Leu219fs)	RAPSN (L219fs)	Duplication (frameshift variant)	Congenital myasthenic syndrome 11 +1 more	GPathogenic
Select item 2945588	NM_005055.5(RAPSN):c.192+11C>T	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2945478	NM_005055.5(RAPSN):c.868C>T (p.Leu290=)	RAPSN	Single nucleotide variant (synonymous variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2945344	NM_005055.5(RAPSN):c.745C>T (p.Leu249=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2945244	NM_005055.5(RAPSN):c.1020G>A (p.Gly340=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2944886	NM_005055.5(RAPSN):c.735G>A (p.Gln245=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2942745	NM_005055.5(RAPSN):c.913-4C>T	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2942186	NM_005055.5(RAPSN):c.336G>A (p.Leu112=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2941725	NM_005055.5(RAPSN):c.967-6C>A	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2941692	NM_005055.5(RAPSN):c.888G>A (p.Trp296Ter)	RAPSN (W296*)	Single nucleotide variant (nonsense +1 more)	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 2940220	NM_005055.5(RAPSN):c.258C>T (p.Tyr86=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2939253	NM_005055.5(RAPSN):c.966+19T>C	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2939041	NM_005055.5(RAPSN):c.531+18G>A	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2938755	NM_005055.5(RAPSN):c.1185G>A (p.Gly395=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2938648	NM_005055.5(RAPSN):c.1218C>T (p.Ser406=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2938198	NM_005055.5(RAPSN):c.790-13C>T	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2938064	NM_005055.5(RAPSN):c.1047T>C (p.Val349=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2937701	NM_005055.5(RAPSN):c.1138C>T (p.Leu380=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2937414	NM_005055.5(RAPSN):c.193-17A>C	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2937162	NM_005055.5(RAPSN):c.192+12del	RAPSN	Deletion (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2937026	NM_005055.5(RAPSN):c.531+1G>A	RAPSN	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 11 +1 more	GPathogenic
Select item 2936830	NM_005055.5(RAPSN):c.180G>A (p.Lys60=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2936378	NM_005055.5(RAPSN):c.1167-12T>C	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2936147	NM_005055.5(RAPSN):c.790-15C>T	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2935579	NM_005055.5(RAPSN):c.864G>T (p.Ala288=)	RAPSN	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2935137	NM_005055.5(RAPSN):c.709C>T (p.Leu237=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2935106	NM_005055.5(RAPSN):c.691-20G>A	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2934992	NM_005055.5(RAPSN):c.691-4G>A	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2934479	NM_005055.5(RAPSN):c.690+14G>A	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2934469	NM_005055.5(RAPSN):c.75A>G (p.Ala25=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2933973	NM_005055.5(RAPSN):c.1166+10C>G	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2933791	NM_005055.5(RAPSN):c.1166+13G>A	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2933718	NM_005055.5(RAPSN):c.790-17C>T	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2933051	NM_005055.5(RAPSN):c.912+9G>C	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2933031	NM_005055.5(RAPSN):c.249G>A (p.Leu83=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2932825	NM_005055.5(RAPSN):c.967-7G>A	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2932455	NM_005055.5(RAPSN):c.984G>A (p.Leu328=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2931844	NM_005055.5(RAPSN):c.822C>T (p.Ser274=)	RAPSN	Single nucleotide variant (synonymous variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2931647	NM_005055.5(RAPSN):c.273C>G (p.Arg91=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2931532	NM_005055.5(RAPSN):c.790-17C>G	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2931400	NM_005055.5(RAPSN):c.123G>A (p.Gly41=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2931303	NM_005055.5(RAPSN):c.691-10del	RAPSN	Deletion (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2931154	NM_005055.5(RAPSN):c.967-9G>C	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2930838	NM_005055.5(RAPSN):c.912+18C>T	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2930798	NM_005055.5(RAPSN):c.532-17T>C	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2930687	NM_005055.5(RAPSN):c.471T>C (p.Asp157=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2930553	NM_005055.5(RAPSN):c.1166+19G>A	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2930131	NM_005055.5(RAPSN):c.1166+18G>C	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2929233	NM_005055.5(RAPSN):c.897G>A (p.Arg299=)	RAPSN	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2928507	NM_005055.5(RAPSN):c.1167-20A>G	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2928314	NM_005055.5(RAPSN):c.912+15T>C	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2928026	NM_005055.5(RAPSN):c.193-16C>A	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2927883	NM_005055.5(RAPSN):c.784C>T (p.Leu262=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2927745	NM_005055.5(RAPSN):c.967-19C>G	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2927716	NM_005055.5(RAPSN):c.532-19C>T	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2927667	NM_005055.5(RAPSN):c.1189C>A (p.Arg397=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2927279	NM_005055.5(RAPSN):c.691-16C>G	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2926475	NM_005055.5(RAPSN):c.192+13G>A	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2926384	NM_005055.5(RAPSN):c.1074G>A (p.Glu358=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2925925	NM_005055.5(RAPSN):c.1050G>A (p.Val350=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2925768	NM_005055.5(RAPSN):c.690+18G>A	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2925741	NM_005055.5(RAPSN):c.379C>T (p.Leu127=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2924872	NM_005055.5(RAPSN):c.664C>T (p.Leu222=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2924281	NM_005055.5(RAPSN):c.573G>A (p.Glu191=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2924114	NM_005055.5(RAPSN):c.1166+19dup	RAPSN	Duplication (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GBenign
Select item 2923833	NM_005055.5(RAPSN):c.531+20G>A	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2923585	NM_005055.5(RAPSN):c.966+14C>G	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2923474	NM_005055.5(RAPSN):c.789+11C>T	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign

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