ClinVar for MedGen (Select 155650) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25060821.	NM_000080.4(CHRNE):c.604A>T (p.Asn202Tyr) GRCh37: Chr17:4804483 GRCh38: Chr17:4901188	C17orf107, CHRNE	N202Y	CHRNE-related condition, Congenital myasthenic syndrome	Conflicting interpretations of pathogenicity (Aug 25, 2023)	criteria provided, conflicting interpretations
Select item 25038332.	NM_000080.4(CHRNE):c.1116_1128del (p.Ser373fs) GRCh37: Chr17:4802584-4802596 GRCh38: Chr17:4899289-4899301	CHRNE	S373fs	not provided, Congenital myasthenic syndrome	Pathogenic (Apr 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 25011743.	NM_005677.4(COLQ):c.870_871del (p.Cys291fs) GRCh37: Chr3:15499776-15499777 GRCh38: Chr3:15458269-15458270	COLQ	C257fs, C281fs, C291fs	Congenital myasthenic syndrome	Likely pathogenic (Mar 9, 2023)	criteria provided, single submitter
Select item 18783314.	NM_173660.5(DOK7):c.1370_1446del (p.Glu457fs) GRCh37: Chr4:3495082-3495158 GRCh38: Chr4:3493355-3493431	DOK7	E147fs, E457fs, E313fs	Congenital myasthenic syndrome	Likely pathogenic (Dec 16, 2022)	criteria provided, single submitter
Select item 18048635.	NM_173660.5(DOK7):c.451C>T (p.Gln151Ter) GRCh37: Chr4:3478188 GRCh38: Chr4:3476461	DOK7	Q151*	Congenital myasthenic syndrome 10, Congenital myasthenic syndrome	Likely pathogenic (Nov 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18048166.	NM_020549.5(CHAT):c.451C>T (p.Arg151Ter) GRCh37: Chr10:50827834 GRCh38: Chr10:49619788	CHAT	R151, R33, R69*	Congenital myasthenic syndrome, Familial infantile myasthenia	Pathogenic/Likely pathogenic (Nov 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18047237.	NM_001244710.2(GFPT1):c.211G>T (p.Glu71Ter) GRCh37: Chr2:69597145 GRCh38: Chr2:69370013	GFPT1	E71*	Congenital myasthenic syndrome	Likely pathogenic (Nov 16, 2022)	criteria provided, single submitter
Select item 17050688.	NM_020549.5(CHAT):c.1468_1470delinsC (p.Glu490fs) GRCh37: Chr10:50857639-50857641 GRCh38: Chr10:49649593-49649595	CHAT	E372fs, E408fs, E490fs	Congenital myasthenic syndrome	Likely pathogenic (Aug 10, 2022)	criteria provided, single submitter
Select item 17045229.	NM_001244710.2(GFPT1):c.739+1G>A GRCh37: Chr2:69581390 GRCh38: Chr2:69354258	GFPT1		Congenital myasthenic syndrome	Likely pathogenic (Jul 20, 2022)	criteria provided, single submitter
Select item 170399410.	NM_173660.5(DOK7):c.414C>T (p.Leu138=) GRCh37: Chr4:3478151 GRCh38: Chr4:3476424	DOK7		not provided, Congenital myasthenic syndrome	Likely pathogenic (Aug 29, 2023)	criteria provided, multiple submitters, no conflicts
Select item 169603411.	NC_000004.11:g.(3478270_3487265)_(3487386_3491403)del GRCh37: Chr4:3478270-3491403	DOK7		Congenital myasthenic syndrome	Likely pathogenic (May 26, 2022)	criteria provided, single submitter
Select item 152611712.	NM_000080.4(CHRNE):c.452_454del (p.Glu151del) GRCh37: Chr17:4805273-4805275 GRCh38: Chr17:4901978-4901980	C17orf107, CHRNE	E151del	Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A	Conflicting interpretations of pathogenicity (Jul 17, 2023)	criteria provided, conflicting interpretations
Select item 132815213.	NM_000080.4(CHRNE):c.985T>C (p.Ser329Pro) GRCh37: Chr17:4802810 GRCh38: Chr17:4899515	CHRNE	S329P	Congenital myasthenic syndrome	Uncertain significance (Sep 19, 2021)	criteria provided, single submitter
Select item 130198614.	NM_001244710.2(GFPT1):c.1588C>T (p.Arg530Trp) GRCh37: Chr2:69556825 GRCh38: Chr2:69329693	GFPT1	R512W, R530W	not provided	Uncertain significance (Nov 29, 2019)	criteria provided, single submitter
Select item 119743615.	NM_173660.5(DOK7):c.1441dup (p.His481fs) GRCh37: Chr4:3495149-3495150 GRCh38: Chr4:3493422-3493423	DOK7	H171fs, H337fs, H481fs	Congenital myasthenic syndrome, not provided	Likely pathogenic (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 113592216.	NM_000080.4(CHRNE):c.132G>A (p.Glu44=) GRCh37: Chr17:4805973 GRCh38: Chr17:4902678	C17orf107, CHRNE		Congenital myasthenic syndrome 4A	Likely benign (Sep 2, 2020)	criteria provided, single submitter
Select item 107960217.	NM_000080.4(CHRNE):c.15G>A (p.Pro5=) GRCh37: Chr17:4806344 GRCh38: Chr17:4903049	C17orf107, CHRNE		Congenital myasthenic syndrome 4A	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 107638718.	NM_000080.4(CHRNE):c.84T>G (p.Tyr28Ter) GRCh37: Chr17:4806021 GRCh38: Chr17:4902726	CHRNE, C17orf107	Y28*	Congenital myasthenic syndrome 4A	Pathogenic (Oct 11, 2022)	criteria provided, single submitter
Select item 107593019.	NM_000080.4(CHRNE):c.529_551del (p.Glu177fs) GRCh37: Chr17:4804870-4804892 GRCh38: Chr17:4901575-4901597	C17orf107, CHRNE	E177fs	Congenital myasthenic syndrome 4A, CHRNE-related disorder, not provided, Congenital myasthenic syndrome	Pathogenic/Likely pathogenic (Mar 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 107387720.	NM_005055.5(RAPSN):c.291C>A (p.Cys97Ter) GRCh37: Chr11:47469604 GRCh38: Chr11:47448052	RAPSN	C97*	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11, not provided	Pathogenic (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 106792921.	NM_005055.5(RAPSN):c.531+1G>T GRCh37: Chr11:47469363 GRCh38: Chr11:47447811	RAPSN		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11, Congenital myasthenic syndrome 11	Pathogenic/Likely pathogenic (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106712822.	NM_001244710.2(GFPT1):c.44C>T (p.Thr15Met) GRCh37: Chr2:69601209 GRCh38: Chr2:69374077	GFPT1	T15M	Congenital myasthenic syndrome, Congenital myasthenic syndrome 12	Pathogenic/Likely pathogenic (Aug 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 106340723.	NM_005055.5(RAPSN):c.317G>A (p.Cys106Tyr) GRCh37: Chr11:47469578 GRCh38: Chr11:47448026	RAPSN	C106Y	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 106193024.	NM_000080.4(CHRNE):c.745G>A (p.Val249Met) GRCh37: Chr17:4804342 GRCh38: Chr17:4901047	C17orf107, CHRNE	V249M	Congenital myasthenic syndrome 4A	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 105634425.	NM_000080.4(CHRNE):c.1390G>A (p.Val464Met) GRCh37: Chr17:4802123 GRCh38: Chr17:4898828	CHRNE	V464M	Congenital myasthenic syndrome 4A, not provided	Uncertain significance (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 105254026.	NM_005055.5(RAPSN):c.33G>C (p.Glu11Asp) GRCh37: Chr11:47470484 GRCh38: Chr11:47448932	RAPSN	E11D	not provided, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104368227.	NM_000080.4(CHRNE):c.373G>A (p.Asp125Asn) GRCh37: Chr17:4805354 GRCh38: Chr17:4902059	C17orf107, CHRNE	D125N	Congenital myasthenic syndrome 4A	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 103874028.	NM_000080.4(CHRNE):c.488C>G (p.Ser163Trp) GRCh37: Chr17:4805239 GRCh38: Chr17:4901944	C17orf107, CHRNE	S163W	Congenital myasthenic syndrome 4A, not provided	Conflicting interpretations of pathogenicity (Sep 15, 2022)	criteria provided, conflicting interpretations
Select item 103778929.	NM_000080.4(CHRNE):c.1033-9C>A GRCh37: Chr17:4802688 GRCh38: Chr17:4899393	CHRNE, LOC130060041		Congenital myasthenic syndrome 4A	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 103734030.	NM_005055.5(RAPSN):c.814G>A (p.Ala272Thr) GRCh37: Chr11:47463261 GRCh38: Chr11:47441709	RAPSN	A272T	Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1, not provided	Uncertain significance (Aug 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103454531.	NM_005055.5(RAPSN):c.325T>G (p.Cys109Gly) GRCh37: Chr11:47469570 GRCh38: Chr11:47448018	RAPSN	C109G	Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 103445432.	NM_005055.5(RAPSN):c.613C>T (p.Arg205Trp) GRCh37: Chr11:47464285 GRCh38: Chr11:47442733	RAPSN	R205W	Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 102439833.	NM_000080.4(CHRNE):c.598A>G (p.Thr200Ala) GRCh37: Chr17:4804823 GRCh38: Chr17:4901528	CHRNE, C17orf107	T200A	Congenital myasthenic syndrome 4A, not provided	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102388234.	NM_000080.4(CHRNE):c.1261C>T (p.Arg421Cys) GRCh37: Chr17:4802361 GRCh38: Chr17:4899066	CHRNE	R421C	Inborn genetic diseases, Congenital myasthenic syndrome 4A	Uncertain significance (Mar 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 102082635.	NM_000080.4(CHRNE):c.1003A>G (p.Thr335Ala) GRCh37: Chr17:4802792 GRCh38: Chr17:4899497	CHRNE	T335A	Congenital myasthenic syndrome 4A, Inborn genetic diseases	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102039836.	NM_000080.4(CHRNE):c.1093G>A (p.Ala365Thr) GRCh37: Chr17:4802619 GRCh38: Chr17:4899324	CHRNE, LOC130060041	A365T	Congenital myasthenic syndrome 4A	Uncertain significance (Oct 25, 2021)	criteria provided, single submitter
Select item 101867237.	NM_005055.5(RAPSN):c.1081C>G (p.Leu361Val) GRCh37: Chr11:47460368 GRCh38: Chr11:47438817	RAPSN	L302V, L361V	Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 101519938.	NM_000080.4(CHRNE):c.202G>A (p.Glu68Lys) GRCh37: Chr17:4805777 GRCh38: Chr17:4902482	CHRNE, C17orf107	E68K	Congenital myasthenic syndrome 4A	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 101475839.	NM_005055.5(RAPSN):c.248T>A (p.Leu83Gln) GRCh37: Chr11:47469647 GRCh38: Chr11:47448095	RAPSN	L83Q	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 101121640.	NM_000080.4(CHRNE):c.691A>G (p.Ile231Val) GRCh37: Chr17:4804396 GRCh38: Chr17:4901101	CHRNE, C17orf107	I231V	Congenital myasthenic syndrome 4A	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 100906741.	NM_000080.4(CHRNE):c.406G>A (p.Val136Met) GRCh37: Chr17:4805321 GRCh38: Chr17:4902026	CHRNE, C17orf107	V136M	not provided, Congenital myasthenic syndrome 4A	Uncertain significance (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100901242.	NM_005055.5(RAPSN):c.581A>G (p.Asn194Ser) GRCh37: Chr11:47464317 GRCh38: Chr11:47442765	RAPSN	N194S	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 100832143.	NM_005055.5(RAPSN):c.1076C>T (p.Thr359Met) GRCh37: Chr11:47460373 GRCh38: Chr11:47438822	RAPSN	T300M, T359M	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 100345744.	NM_000080.4(CHRNE):c.1144GAG[1] (p.Glu383del) GRCh37: Chr17:4802563-4802565 GRCh38: Chr17:4899268-4899270	CHRNE, LOC130060040	E383del	Congenital myasthenic syndrome 4A	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 100186545.	NM_005055.5(RAPSN):c.328C>T (p.Leu110Phe) GRCh37: Chr11:47469567 GRCh38: Chr11:47448015	RAPSN	L110F	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 99227446.	NM_000080.4(CHRNE):c.916A>G (p.Arg306Gly) GRCh37: Chr17:4804089 GRCh38: Chr17:4900794	CHRNE, C17orf107	R306G	Congenital myasthenic syndrome	Pathogenic (Jan 23, 2017)	no assertion criteria provided
Select item 99111447.	NM_005055.5(RAPSN):c.102G>A (p.Glu34=) GRCh37: Chr11:47470415 GRCh38: Chr11:47448863	RAPSN		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 99111348.	NM_005055.5(RAPSN):c.130C>T (p.Arg44Cys) GRCh37: Chr11:47470387 GRCh38: Chr11:47448835	RAPSN	R44C	Congenital myasthenic syndrome	Uncertain significance (Apr 14, 2020)	no assertion criteria provided
Select item 99111249.	NM_005055.5(RAPSN):c.279C>T (p.Asn93=) GRCh37: Chr11:47469616 GRCh38: Chr11:47448064	RAPSN		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 99111150.	NM_005055.5(RAPSN):c.605T>C (p.Leu202Pro) GRCh37: Chr11:47464293 GRCh38: Chr11:47442741	RAPSN	L202P	Congenital myasthenic syndrome	Uncertain significance (Apr 14, 2020)	no assertion criteria provided
Select item 99111051.	NM_005055.5(RAPSN):c.682T>C (p.Cys228Arg) GRCh37: Chr11:47464216 GRCh38: Chr11:47442664	RAPSN	C228R	Congenital myasthenic syndrome	Uncertain significance (Apr 14, 2020)	no assertion criteria provided
Select item 99048052.	NM_000080.4(CHRNE):c.357G>A (p.Gln119=) GRCh37: Chr17:4805370 GRCh38: Chr17:4902075	C17orf107, CHRNE		Congenital myasthenic syndrome 4A	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 99047953.	NM_000080.4(CHRNE):c.1049T>C (p.Leu350Pro) GRCh37: Chr17:4802663 GRCh38: Chr17:4899368	CHRNE, LOC130060041	L350P	Congenital myasthenic syndrome	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 99047854.	NM_000080.4(CHRNE):c.1074G>A (p.Pro358=) GRCh37: Chr17:4802638 GRCh38: Chr17:4899343	CHRNE, LOC130060041		Congenital myasthenic syndrome 4A	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 99047755.	NM_000080.4(CHRNE):c.1077G>T (p.Pro359=) GRCh37: Chr17:4802635 GRCh38: Chr17:4899340	CHRNE, LOC130060041		Congenital myasthenic syndrome 4A	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 99046556.	NM_005055.5(RAPSN):c.798C>T (p.Phe266=) GRCh37: Chr11:47463277 GRCh38: Chr11:47441725	RAPSN		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 99046457.	NM_005055.5(RAPSN):c.847C>G (p.Leu283Val) GRCh37: Chr11:47463228 GRCh38: Chr11:47441676	RAPSN	L283V	Fetal akinesia deformation sequence 2, Congenital myasthenic syndrome 11, not provided	Uncertain significance (Mar 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99046358.	NM_005055.5(RAPSN):c.985C>T (p.His329Tyr) GRCh37: Chr11:47460464 GRCh38: Chr11:47438913	RAPSN	H270Y, H329Y	Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 2	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 99046259.	NM_005055.5(RAPSN):c.996C>G (p.Ser332Arg) GRCh37: Chr11:47460453 GRCh38: Chr11:47438902	RAPSN	S273R, S332R	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 99046160.	NM_005055.5(RAPSN):c.1059C>T (p.His353=) GRCh37: Chr11:47460390 GRCh38: Chr11:47438839	RAPSN		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Likely benign (Nov 4, 2022)	criteria provided, single submitter
Select item 99046061.	NM_005055.5(RAPSN):c.1113C>T (p.Gly371=) GRCh37: Chr11:47460336 GRCh38: Chr11:47438785	RAPSN		Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 99045962.	NM_005055.5(RAPSN):c.1208G>A (p.Arg403His) GRCh37: Chr11:47459557 GRCh38: Chr11:47438006	RAPSN	R344H, R403H	Congenital myasthenic syndrome	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 99045863.	NM_005055.5(RAPSN):c.1221G>A (p.Met407Ile) GRCh37: Chr11:47459544 GRCh38: Chr11:47437993	RAPSN	M348I, M407I	Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 2, Inborn genetic diseases	Uncertain significance (Jun 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 97265964.	NM_005055.5(RAPSN):c.451C>T (p.Arg151Cys) GRCh37: Chr11:47469444 GRCh38: Chr11:47447892	RAPSN	R151C	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11, not provided	Uncertain significance (Feb 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97071865.	NM_005055.5(RAPSN):c.769C>T (p.Arg257Trp) GRCh37: Chr11:47463395 GRCh38: Chr11:47441843	RAPSN	R257W	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 97043966.	NM_000080.4(CHRNE):c.1424T>A (p.Leu475His) GRCh37: Chr17:4802089 GRCh38: Chr17:4898794	CHRNE	L475H	Congenital myasthenic syndrome 4A	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 97014467.	NM_000080.4(CHRNE):c.1019C>G (p.Pro340Arg) GRCh37: Chr17:4802776 GRCh38: Chr17:4899481	CHRNE	P340R	Congenital myasthenic syndrome 4A	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 96959268.	NM_000080.4(CHRNE):c.569A>G (p.Asn190Ser) GRCh37: Chr17:4804852 GRCh38: Chr17:4901557	CHRNE, C17orf107	N190S	Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4B	Uncertain significance (Aug 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96920369.	NM_005055.5(RAPSN):c.1183G>A (p.Gly395Arg) GRCh37: Chr11:47459582 GRCh38: Chr11:47438031	RAPSN	G395R, G336R	Inborn genetic diseases, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Uncertain significance (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96887770.	NM_000080.4(CHRNE):c.646C>T (p.Arg216Cys) GRCh37: Chr17:4804441 GRCh38: Chr17:4901146	C17orf107, CHRNE	R216C	Inborn genetic diseases, Congenital myasthenic syndrome 4A	Uncertain significance (Apr 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 96869671.	NM_005055.5(RAPSN):c.265C>G (p.Leu89Val) GRCh37: Chr11:47469630 GRCh38: Chr11:47448078	RAPSN	L89V	not provided, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Uncertain significance (Oct 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 96833872.	NM_005055.5(RAPSN):c.808G>A (p.Asp270Asn) GRCh37: Chr11:47463267 GRCh38: Chr11:47441715	RAPSN	D270N	Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 96800873.	NM_000080.4(CHRNE):c.818G>C (p.Cys273Ser) GRCh37: Chr17:4804187 GRCh38: Chr17:4900892	C17orf107, CHRNE	C273S	Congenital myasthenic syndrome 4A	Likely benign (Nov 4, 2022)	criteria provided, single submitter
Select item 96778574.	NM_000080.4(CHRNE):c.1262G>A (p.Arg421His) GRCh37: Chr17:4802360 GRCh38: Chr17:4899065	CHRNE	R421H	Inborn genetic diseases, Congenital myasthenic syndrome 4A	Uncertain significance (Aug 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96635075.	NM_000080.4(CHRNE):c.1327-3C>T GRCh37: Chr17:4802189 GRCh38: Chr17:4898894	CHRNE		Congenital myasthenic syndrome 4A	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 96570876.	NM_000080.4(CHRNE):c.16C>T (p.Leu6Phe) GRCh37: Chr17:4806343 GRCh38: Chr17:4903048	CHRNE, C17orf107	L6F	Congenital myasthenic syndrome 4A, not provided	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96537477.	NM_000080.4(CHRNE):c.359T>C (p.Phe120Ser) GRCh37: Chr17:4805368 GRCh38: Chr17:4902073	C17orf107, CHRNE	F120S	not provided, Congenital myasthenic syndrome 4A	Uncertain significance (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96498678.	NM_005055.5(RAPSN):c.863C>T (p.Ala288Val) GRCh37: Chr11:47463212 GRCh38: Chr11:47441660	RAPSN	A288V	not provided, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 96497079.	NM_000080.4(CHRNE):c.410C>T (p.Thr137Met) GRCh37: Chr17:4805317 GRCh38: Chr17:4902022	C17orf107, CHRNE	T137M	Congenital myasthenic syndrome 4A	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 96486180.	NM_000080.4(CHRNE):c.705C>G (p.Ile235Met) GRCh37: Chr17:4804382 GRCh38: Chr17:4901087	C17orf107, CHRNE	I235M	Congenital myasthenic syndrome 4A	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 96128481.	NM_000080.4(CHRNE):c.1018C>T (p.Pro340Ser) GRCh37: Chr17:4802777 GRCh38: Chr17:4899482	CHRNE	P340S	Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome 4A	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 95993082.	NM_000080.4(CHRNE):c.619A>G (p.Ile207Val) GRCh37: Chr17:4804468 GRCh38: Chr17:4901173	C17orf107, CHRNE	I207V	Congenital myasthenic syndrome 4A	Uncertain significance (Feb 14, 2022)	criteria provided, single submitter
Select item 95950483.	NM_000080.4(CHRNE):c.1345C>A (p.Arg449Ser) GRCh37: Chr17:4802168 GRCh38: Chr17:4898873	CHRNE	R449S	not provided, Congenital myasthenic syndrome 4A	Uncertain significance (May 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 95551884.	NM_005055.5(RAPSN):c.475G>A (p.Ala159Thr) GRCh37: Chr11:47469420 GRCh38: Chr11:47447868	RAPSN	A159T	not provided, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11	Uncertain significance (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94997385.	NM_000080.4(CHRNE):c.1471A>G (p.Ile491Val) GRCh37: Chr17:4802042 GRCh38: Chr17:4898747	CHRNE	I491V	Congenital myasthenic syndrome 4A	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 94611886.	NM_005055.5(RAPSN):c.661C>T (p.Arg221Cys) GRCh37: Chr11:47464237 GRCh38: Chr11:47442685	RAPSN	R221C	Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 93986987.	NM_001145536.2(C17orf107):c.*2083C>T GRCh37: Chr17:4805911 GRCh38: Chr17:4902616	C17orf107, CHRNE		Congenital myasthenic syndrome 4A	Uncertain significance (May 31, 2019)	criteria provided, single submitter
Select item 93970688.	NM_000080.4(CHRNE):c.1220-4C>T GRCh37: Chr17:4802406 GRCh38: Chr17:4899111	CHRNE		Congenital myasthenic syndrome 4A	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 93742389.	NM_000080.4(CHRNE):c.1051C>T (p.Pro351Ser) GRCh37: Chr17:4802661 GRCh38: Chr17:4899366	CHRNE, LOC130060041	P351S	Congenital myasthenic syndrome 4A	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 89895190.	NM_000751.3(CHRND):c.*1232A>C GRCh37: Chr2:233401254 GRCh38: Chr2:232536544	CHRND		Congenital myasthenic syndrome, Lethal multiple pterygium syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89895091.	NM_000751.3(CHRND):c.*1189G>C GRCh37: Chr2:233401211 GRCh38: Chr2:232536501	CHRND		Congenital myasthenic syndrome, Lethal multiple pterygium syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89888192.	NM_000751.3(CHRND):c.*453T>C GRCh37: Chr2:233400475 GRCh38: Chr2:232535765	CHRND		Congenital myasthenic syndrome, Lethal multiple pterygium syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89868593.	NM_000751.3(CHRND):c.52+7G>A GRCh37: Chr2:233390984 GRCh38: Chr2:232526274	CHRND		Congenital myasthenic syndrome, Lethal multiple pterygium syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89779994.	NM_000751.3(CHRND):c.*969G>A GRCh37: Chr2:233400991 GRCh38: Chr2:232536281	CHRND		Congenital myasthenic syndrome, Lethal multiple pterygium syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89773095.	NM_000751.3(CHRND):c.*365C>A GRCh37: Chr2:233400387 GRCh38: Chr2:232535677	CHRND, CHRNG		Congenital myasthenic syndrome, Autosomal recessive multiple pterygium syndrome	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 89772996.	NM_000751.3(CHRND):c.*342C>T GRCh37: Chr2:233400364 GRCh38: Chr2:232535654	CHRND		Congenital myasthenic syndrome, Lethal multiple pterygium syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89619797.	NM_000751.3(CHRND):c.*908A>G GRCh37: Chr2:233400930 GRCh38: Chr2:232536220	CHRND		Congenital myasthenic syndrome, Lethal multiple pterygium syndrome	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 89613498.	NM_000751.3(CHRND):c.*290G>A GRCh37: Chr2:233400312 GRCh38: Chr2:232535602	CHRND		Congenital myasthenic syndrome, Lethal multiple pterygium syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89613399.	NM_000751.3(CHRND):c.*268G>A GRCh37: Chr2:233400290 GRCh38: Chr2:232535580	CHRND		Congenital myasthenic syndrome, Lethal multiple pterygium syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 896061100.	NM_000751.3(CHRND):c.1195C>T (p.Leu399Phe) GRCh37: Chr2:233398788 GRCh38: Chr2:232534078	CHRND	L205F, L298F, L399F, L384F	Congenital myasthenic syndrome, Lethal multiple pterygium syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter

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