ClinVar for MedGen (Select 140751) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341407	NM_020549.5(CHAT):c.1958T>C (p.Phe653Ser)	CHAT (F535S +2 more)	Single nucleotide variant (missense variant)	Familial infantile myasthenia	GUncertain significance
Select item 3244829	NC_000010.10:g.(?_50854637)_(50864625_?)del	CHAT	Deletion	Familial infantile myasthenia	GPathogenic
Select item 3244827	NC_000010.10:g.(?_50872803)_(50873092_?)del	CHAT	Deletion	Familial infantile myasthenia	GPathogenic
Select item 3242064	NM_020549.5(CHAT):c.526G>A (p.Gly176Ser)	CHAT (G176S +2 more)	Single nucleotide variant (missense variant)	Familial infantile myasthenia	GUncertain significance
Select item 3242062	NM_020549.5(CHAT):c.461T>G (p.Val154Gly)	CHAT (V154G +2 more)	Single nucleotide variant (missense variant)	Familial infantile myasthenia	GUncertain significance
Select item 3241155	NM_020549.5(CHAT):c.921del (p.Cys308fs)	CHAT (C190fs +2 more)	Deletion (frameshift variant)	Familial infantile myasthenia	GLikely pathogenic
Select item 3241154	NM_020549.5(CHAT):c.1112-1G>C	CHAT	Single nucleotide variant (splice acceptor variant)	Familial infantile myasthenia	GLikely pathogenic
Select item 3241153	NM_020549.5(CHAT):c.1511+2T>A	CHAT	Single nucleotide variant (splice donor variant)	Familial infantile myasthenia	GLikely pathogenic
Select item 3241152	NM_020549.5(CHAT):c.753-1G>C	CHAT	Single nucleotide variant (splice acceptor variant)	Familial infantile myasthenia	GLikely pathogenic
Select item 3241151	NM_020549.5(CHAT):c.1687C>T (p.Gln563Ter)	CHAT (Q445* +2 more)	Single nucleotide variant (nonsense)	Familial infantile myasthenia	GLikely pathogenic
Select item 3241150	NM_020549.5(CHAT):c.1511+1G>A	CHAT	Single nucleotide variant (splice donor variant)	Familial infantile myasthenia	GLikely pathogenic
Select item 3241149	NM_020549.5(CHAT):c.1419del (p.Val474fs)	CHAT (V356fs +2 more)	Deletion (frameshift variant)	Familial infantile myasthenia	GLikely pathogenic
Select item 3241148	NM_020549.5(CHAT):c.1383-2A>G	CHAT	Single nucleotide variant (splice acceptor variant)	Familial infantile myasthenia	GLikely pathogenic
Select item 3065253	NM_020549.5(CHAT):c.1978-1G>A	CHAT	Single nucleotide variant (splice acceptor variant)	Familial infantile myasthenia	GLikely pathogenic
Select item 3023577	NM_020549.5(CHAT):c.1425C>T (p.Ser475=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 3022303	NM_020549.5(CHAT):c.168C>A (p.Gly56=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 3022214	NM_020549.5(CHAT):c.159G>A (p.Gly53=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 3019123	NM_020549.5(CHAT):c.1512-10del	CHAT	Deletion (intron variant)	Familial infantile myasthenia	GBenign
Select item 3018627	NM_020549.5(CHAT):c.747G>A (p.Leu249=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 3018549	NM_020549.5(CHAT):c.387+9C>T	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia	GLikely benign
Select item 3018373	NM_020549.5(CHAT):c.915C>T (p.Ile305=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 3016881	NM_020549.5(CHAT):c.451C>A (p.Arg151=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 3015957	NM_020549.5(CHAT):c.1950C>T (p.Ser650=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 3015596	NM_020549.5(CHAT):c.1236C>A (p.Gly412=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 3015033	NM_020549.5(CHAT):c.387+17G>A	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia	GLikely benign
Select item 3013128	NM_020549.5(CHAT):c.1776+10G>A	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia	GLikely benign
Select item 3012860	NM_020549.5(CHAT):c.580-5G>C	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia	GLikely benign
Select item 3012390	NM_020549.5(CHAT):c.111C>T (p.Leu37=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 3011353	NM_020549.5(CHAT):c.315A>G (p.Gly105=)	CHAT	Single nucleotide variant (5 prime UTR variant +1 more)	Familial infantile myasthenia	GLikely benign
Select item 3010420	NM_020549.5(CHAT):c.2016T>C (p.Pro672=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 3006799	NM_020549.5(CHAT):c.1511+8T>C	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia	GLikely benign
Select item 3005996	NM_020549.5(CHAT):c.2232G>A (p.Gln744=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 3004169	NM_020549.5(CHAT):c.579+19G>A	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia	GLikely benign
Select item 3002585	NM_020549.5(CHAT):c.1251G>C (p.Gly417=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 3002576	NM_020549.5(CHAT):c.1665G>A (p.Glu555=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 3001474	NM_020549.5(CHAT):c.1848A>T (p.Thr616=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2999706	NM_020549.5(CHAT):c.2022C>T (p.Val674=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2999648	NM_020549.5(CHAT):c.1282-11T>C	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia	GLikely benign
Select item 2998874	NM_020549.5(CHAT):c.933+18T>C	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia	GLikely benign
Select item 2998605	NM_020549.5(CHAT):c.819C>T (p.Tyr273=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2997667	NM_020549.5(CHAT):c.55A>G (p.Arg19Gly)	CHAT (R19G)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 2997126	NM_020549.5(CHAT):c.1479C>A (p.Gly493=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2996410	NM_020549.5(CHAT):c.822T>C (p.Tyr274=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2995130	NM_020549.5(CHAT):c.2205A>G (p.Thr735=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2993550	NM_020549.5(CHAT):c.1776+7C>A	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia	GLikely benign
Select item 2993039	NM_020549.5(CHAT):c.1678C>T (p.Arg560Cys)	CHAT (R442C +2 more)	Single nucleotide variant (missense variant)	Familial infantile myasthenia	GLikely pathogenic
Select item 2992950	NM_020549.5(CHAT):c.1731A>G (p.Ala577=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2992274	NM_020549.5(CHAT):c.934-7C>T	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia	GLikely benign
Select item 2988164	NM_020549.5(CHAT):c.287-12C>T	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia	GLikely benign
Select item 2988108	NM_020549.5(CHAT):c.1450C>A (p.Arg484=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2986643	NM_020549.5(CHAT):c.1398G>A (p.Arg466=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2985559	NM_020549.5(CHAT):c.1383-17T>C	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia	GLikely benign
Select item 2981926	NM_020549.5(CHAT):c.2046C>T (p.Tyr682=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2980420	NM_020549.5(CHAT):c.1389G>A (p.Gln463=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2979773	NM_020549.5(CHAT):c.255G>A (p.Ala85=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 2979516	NM_020549.5(CHAT):c.177C>T (p.Pro59=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 2978788	NM_020549.5(CHAT):c.306T>C (p.Pro102=)	CHAT	Single nucleotide variant (5 prime UTR variant +1 more)	Familial infantile myasthenia	GLikely benign
Select item 2977941	NM_020549.5(CHAT):c.399A>G (p.Lys133=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2976997	NM_020549.5(CHAT):c.1092C>A (p.Ala364=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2976996	NM_020549.5(CHAT):c.1041G>A (p.Leu347=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2974377	NM_020549.5(CHAT):c.2025A>G (p.Pro675=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2974125	NM_020549.5(CHAT):c.45G>C (p.Gly15=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 2973692	NM_020549.5(CHAT):c.1980G>A (p.Val660=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2972861	NM_020549.5(CHAT):c.698+10T>C	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia	GLikely benign
Select item 2972432	NM_020549.5(CHAT):c.934-6C>T	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia	GLikely benign
Select item 2971616	NM_020549.5(CHAT):c.880_884del (p.Asn294fs)	CHAT (N212fs +2 more)	Deletion (frameshift variant)	Familial infantile myasthenia	GPathogenic
Select item 2969203	NM_020549.5(CHAT):c.286+11GGGCT[4]	CHAT	Microsatellite (intron variant)	Familial infantile myasthenia	GLikely benign
Select item 2969090	NM_020549.5(CHAT):c.1188G>A (p.Val396=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2967502	NM_020549.5(CHAT):c.1382+8T>G	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia	GLikely benign
Select item 2964134	NM_020549.5(CHAT):c.33T>C (p.Leu11=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 2963875	NM_020549.5(CHAT):c.1383-16G>T	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia	GLikely benign
Select item 2963235	NM_020549.5(CHAT):c.1086C>G (p.Ala362=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2962691	NM_020549.5(CHAT):c.753-14C>T	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia	GLikely benign
Select item 2960472	NM_020549.5(CHAT):c.753-11C>T	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia	GLikely benign
Select item 2960448	NM_020549.5(CHAT):c.1732C>T (p.Leu578=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2958098	NM_020549.5(CHAT):c.1347C>T (p.Val449=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2957561	NM_020549.5(CHAT):c.2040C>G (p.Ala680=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2957110	NM_020549.5(CHAT):c.1777-17_1777-16del	CHAT	Microsatellite (intron variant)	Familial infantile myasthenia	GLikely benign
Select item 2956122	NM_020549.5(CHAT):c.580-11dup	CHAT	Duplication (intron variant)	Familial infantile myasthenia	GLikely benign
Select item 2955246	NM_020549.5(CHAT):c.1840-7T>C	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia	GLikely benign
Select item 2954928	NM_020549.5(CHAT):c.1137C>T (p.Asp379=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2954637	NM_020549.5(CHAT):c.120T>C (p.Gly40=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 2954615	NM_020549.5(CHAT):c.1863C>A (p.Asp621Glu)	CHAT (D539E +2 more)	Single nucleotide variant (missense variant)	Familial infantile myasthenia	GUncertain significance
Select item 2920317	NM_020549.5(CHAT):c.579+18G>T	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia	GLikely benign
Select item 2919890	NM_020549.5(CHAT):c.1634+7G>A	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia	GLikely benign
Select item 2918276	NM_020549.5(CHAT):c.2169T>C (p.Ser723=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2917814	NM_020549.5(CHAT):c.787C>T (p.Leu263=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2915549	NM_020549.5(CHAT):c.752+19T>C	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia	GLikely benign
Select item 2914688	NM_020549.5(CHAT):c.1282-13T>C	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia	GLikely benign
Select item 2914580	NM_020549.5(CHAT):c.1080G>A (p.Glu360=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2914249	NM_020549.5(CHAT):c.45G>A (p.Gly15=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 2913678	NM_020549.5(CHAT):c.2019G>A (p.Val673=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2913658	NM_020549.5(CHAT):c.1767T>C (p.Ala589=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2913656	NM_020549.5(CHAT):c.225C>A (p.Pro75=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 2913157	NM_020549.5(CHAT):c.698+2T>C	CHAT	Single nucleotide variant (splice donor variant)	Familial infantile myasthenia	GLikely pathogenic
Select item 2912760	NM_020549.5(CHAT):c.441G>A (p.Leu147=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2912238	NM_020549.5(CHAT):c.2010T>C (p.Tyr670=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign
Select item 2911492	NM_020549.5(CHAT):c.1635-16C>T	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia	GLikely benign
Select item 2911491	NM_020549.5(CHAT):c.388-11del	CHAT	Deletion (intron variant)	Familial infantile myasthenia	GLikely benign
Select item 2911267	NM_020549.5(CHAT):c.2197T>C (p.Leu733=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia	GLikely benign

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