ClinVar for MedGen (Select 140751) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24399481.	NM_020549.5(CHAT):c.178C>T (p.His60Tyr) GRCh37: Chr10:50822413 GRCh38: Chr10:49614367	CHAT	H60Y	Familial infantile myasthenia	Uncertain significance (May 20, 2019)	criteria provided, single submitter
Select item 24399462.	NM_020549.5(CHAT):c.91G>A (p.Val31Met) GRCh37: Chr10:50822326 GRCh38: Chr10:49614280	CHAT	V31M	Familial infantile myasthenia	Uncertain significance (Sep 5, 2019)	criteria provided, single submitter
Select item 24399453.	NM_020549.5(CHAT):c.1426G>A (p.Glu476Lys) GRCh37: Chr10:50857597 GRCh38: Chr10:49649551	CHAT	E358K, E394K, E476K	Familial infantile myasthenia	Uncertain significance (Jul 30, 2019)	criteria provided, single submitter
Select item 24399444.	NM_020549.5(CHAT):c.335T>G (p.Leu112Arg) GRCh37: Chr10:50824596 GRCh38: Chr10:49616550	CHAT	L112R, L30R	Familial infantile myasthenia	Uncertain significance (Dec 24, 2019)	criteria provided, single submitter
Select item 24399435.	NM_020549.5(CHAT):c.279G>C (p.Arg93Ser) GRCh37: Chr10:50822514 GRCh38: Chr10:49614468	CHAT	R93S	Familial infantile myasthenia	Uncertain significance (Jun 28, 2019)	criteria provided, single submitter
Select item 24265666.	NC_000010.10:g.(?_50818787)_(50824668_?)dup GRCh37: Chr10:50818787-50824668	CHAT, SLC18A3		Familial infantile myasthenia	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 24265657.	NC_000010.10:g.(?_50856533)_(50857702_?)del GRCh37: Chr10:50856533-50857702	CHAT		Familial infantile myasthenia	Pathogenic (Jun 13, 2022)	criteria provided, single submitter
Select item 24225698.	NM_020549.5(CHAT):c.1023C>G (p.Ser341=) GRCh37: Chr10:50835743 GRCh38: Chr10:49627697	CHAT		Familial infantile myasthenia	Likely benign (Dec 30, 2021)	criteria provided, single submitter
Select item 24217139.	NM_020549.5(CHAT):c.224C>T (p.Pro75Leu) GRCh37: Chr10:50822459 GRCh38: Chr10:49614413	CHAT	P75L	Familial infantile myasthenia	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 242010110.	NM_020549.5(CHAT):c.1078G>A (p.Glu360Lys) GRCh37: Chr10:50835798 GRCh38: Chr10:49627752	CHAT	E242K, E278K, E360K	Familial infantile myasthenia	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 241862711.	NM_020549.5(CHAT):c.1111+11G>A GRCh37: Chr10:50835842 GRCh38: Chr10:49627796	CHAT		Familial infantile myasthenia	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 241794512.	NM_020549.5(CHAT):c.698+1G>A GRCh37: Chr10:50828660 GRCh38: Chr10:49620614	CHAT		Familial infantile myasthenia	Likely pathogenic (Oct 11, 2022)	criteria provided, single submitter
Select item 220234513.	NM_020549.5(CHAT):c.753-13T>C GRCh37: Chr10:50833506 GRCh38: Chr10:49625460	CHAT		Familial infantile myasthenia	Likely benign (May 14, 2022)	criteria provided, single submitter
Select item 220151314.	NM_020549.5(CHAT):c.27G>A (p.Arg9=) GRCh37: Chr10:50822262 GRCh38: Chr10:49614216	CHAT		Familial infantile myasthenia	Likely benign (Dec 21, 2021)	criteria provided, single submitter
Select item 220119615.	NM_020549.5(CHAT):c.1299C>T (p.Asp433=) GRCh37: Chr10:50856570 GRCh38: Chr10:49648524	CHAT		Familial infantile myasthenia	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 220093916.	NM_020549.5(CHAT):c.1125G>A (p.Arg375=) GRCh37: Chr10:50854564 GRCh38: Chr10:49646518	CHAT		Familial infantile myasthenia	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 220070417.	NM_020549.5(CHAT):c.1111+16C>T GRCh37: Chr10:50835847 GRCh38: Chr10:49627801	CHAT		Familial infantile myasthenia	Likely benign (Dec 28, 2021)	criteria provided, single submitter
Select item 219808118.	NM_020549.5(CHAT):c.1850_1851del (p.Gly617fs) GRCh37: Chr10:50870700-50870701 GRCh38: Chr10:49662654-49662655	CHAT	G535fs, G499fs, G617fs	Familial infantile myasthenia	Pathogenic (Jan 19, 2022)	criteria provided, single submitter
Select item 219247919.	NM_020549.5(CHAT):c.201C>A (p.Pro67=) GRCh37: Chr10:50822436 GRCh38: Chr10:49614390	CHAT		Familial infantile myasthenia	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 217934520.	NM_020549.5(CHAT):c.1435G>A (p.Ala479Thr) GRCh37: Chr10:50857606 GRCh38: Chr10:49649560	CHAT	A479T, A361T, A397T	Familial infantile myasthenia	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 217568521.	NM_020549.5(CHAT):c.135G>T (p.Pro45=) GRCh37: Chr10:50822370 GRCh38: Chr10:49614324	CHAT		Familial infantile myasthenia	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 216726522.	NM_020549.5(CHAT):c.771C>T (p.Asp257=) GRCh37: Chr10:50833537 GRCh38: Chr10:49625491	CHAT		Familial infantile myasthenia	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 216349723.	NM_020549.5(CHAT):c.286+13G>A GRCh37: Chr10:50822534 GRCh38: Chr10:49614488	CHAT		Familial infantile myasthenia	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 215735024.	NM_020549.5(CHAT):c.933+12C>T GRCh37: Chr10:50833711 GRCh38: Chr10:49625665	CHAT		Familial infantile myasthenia	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 215691025.	NM_020549.5(CHAT):c.1840-14C>G GRCh37: Chr10:50870677 GRCh38: Chr10:49662631	CHAT		Familial infantile myasthenia	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 215578126.	NM_020549.5(CHAT):c.405C>A (p.Pro135=) GRCh37: Chr10:50827788 GRCh38: Chr10:49619742	CHAT		Familial infantile myasthenia	Uncertain significance (Dec 29, 2021)	criteria provided, single submitter
Select item 215372827.	NM_020549.5(CHAT):c.1167C>T (p.Cys389=) GRCh37: Chr10:50854606 GRCh38: Chr10:49646560	CHAT		Familial infantile myasthenia	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 215360928.	NM_020549.5(CHAT):c.547C>A (p.Leu183Ile) GRCh37: Chr10:50827930 GRCh38: Chr10:49619884	CHAT	L101I, L65I, L183I	Familial infantile myasthenia, Inborn genetic diseases	Uncertain significance (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215195029.	NM_020549.5(CHAT):c.1441C>A (p.Arg481=) GRCh37: Chr10:50857612 GRCh38: Chr10:49649566	CHAT		Familial infantile myasthenia	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 215184930.	NM_020549.5(CHAT):c.188C>T (p.Ala63Val) GRCh37: Chr10:50822423 GRCh38: Chr10:49614377	CHAT	A63V	Familial infantile myasthenia	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 214949831.	NM_020549.5(CHAT):c.1026C>A (p.Asn342Lys) GRCh37: Chr10:50835746 GRCh38: Chr10:49627700	CHAT	N224K, N260K, N342K	Familial infantile myasthenia	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 214949232.	NM_020549.5(CHAT):c.1383G>A (p.Val461=) GRCh37: Chr10:50857554 GRCh38: Chr10:49649508	CHAT		Familial infantile myasthenia	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 214679133.	NM_020549.5(CHAT):c.1541A>G (p.Tyr514Cys) GRCh37: Chr10:50859959 GRCh38: Chr10:49651913	CHAT	Y396C, Y514C, Y432C	Familial infantile myasthenia	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214678134.	NM_020549.5(CHAT):c.712C>G (p.Leu238Val) GRCh37: Chr10:50830156 GRCh38: Chr10:49622110	CHAT	L120V, L238V, L156V	Familial infantile myasthenia	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 214413435.	NM_020549.5(CHAT):c.1776+16C>G GRCh37: Chr10:50863298 GRCh38: Chr10:49655252	CHAT		Familial infantile myasthenia	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 214402036.	NM_020549.5(CHAT):c.1776+7C>G GRCh37: Chr10:50863289 GRCh38: Chr10:49655243	CHAT		Familial infantile myasthenia	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 214318637.	NM_020549.5(CHAT):c.432C>T (p.Ala144=) GRCh37: Chr10:50827815 GRCh38: Chr10:49619769	CHAT		Familial infantile myasthenia	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 214058438.	NM_020549.5(CHAT):c.850G>A (p.Gly284Ser) GRCh37: Chr10:50833616 GRCh38: Chr10:49625570	CHAT	G166S, G202S, G284S	Familial infantile myasthenia	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 213980539.	NM_020549.5(CHAT):c.895C>T (p.Pro299Ser) GRCh37: Chr10:50833661 GRCh38: Chr10:49625615	CHAT	P181S, P299S, P217S	Familial infantile myasthenia	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 213943740.	NM_020549.5(CHAT):c.844C>T (p.Leu282Phe) GRCh37: Chr10:50833610 GRCh38: Chr10:49625564	CHAT	L200F, L164F, L282F	Familial infantile myasthenia	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 213893541.	NM_020549.5(CHAT):c.525C>T (p.Leu175=) GRCh37: Chr10:50827908 GRCh38: Chr10:49619862	CHAT		Familial infantile myasthenia	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 213686242.	NM_020549.5(CHAT):c.1891G>A (p.Ala631Thr) GRCh37: Chr10:50870742 GRCh38: Chr10:49662696	CHAT	A631T, A513T, A549T	Familial infantile myasthenia	Pathogenic (Aug 5, 2022)	criteria provided, single submitter
Select item 213686143.	NM_020549.5(CHAT):c.1262G>C (p.Trp421Ser) GRCh37: Chr10:50854701 GRCh38: Chr10:49646655	CHAT	W303S, W339S, W421S	Familial infantile myasthenia	Pathogenic (Aug 5, 2022)	criteria provided, single submitter
Select item 211924944.	NM_020549.5(CHAT):c.512C>T (p.Ala171Val) GRCh37: Chr10:50827895 GRCh38: Chr10:49619849	CHAT	A53V, A171V, A89V	Familial infantile myasthenia	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 211805945.	NM_020549.5(CHAT):c.657C>T (p.Ile219=) GRCh37: Chr10:50828618 GRCh38: Chr10:49620572	CHAT		Familial infantile myasthenia	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 211767446.	NM_020549.5(CHAT):c.1112-20T>G GRCh37: Chr10:50854531 GRCh38: Chr10:49646485	CHAT		Familial infantile myasthenia	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 211345347.	NM_020549.5(CHAT):c.1383-17T>G GRCh37: Chr10:50857537 GRCh38: Chr10:49649491	CHAT		Familial infantile myasthenia	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 211162648.	NM_020549.5(CHAT):c.1544A>T (p.Lys515Met) GRCh37: Chr10:50859962 GRCh38: Chr10:49651916	CHAT	K515M, K397M, K433M	Familial infantile myasthenia	Uncertain significance (Jun 11, 2022)	criteria provided, single submitter
Select item 210308549.	NM_020549.5(CHAT):c.1911G>A (p.Glu637=) GRCh37: Chr10:50870762 GRCh38: Chr10:49662716	CHAT		Familial infantile myasthenia	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 209296650.	NM_020549.5(CHAT):c.1473T>A (p.Ile491=) GRCh37: Chr10:50857644 GRCh38: Chr10:49649598	CHAT		Familial infantile myasthenia	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 209208051.	NM_020549.5(CHAT):c.1727A>T (p.Glu576Val) GRCh37: Chr10:50863233 GRCh38: Chr10:49655187	CHAT	E458V, E494V, E576V	Familial infantile myasthenia	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 208633152.	NM_020549.5(CHAT):c.934-15C>T GRCh37: Chr10:50835639 GRCh38: Chr10:49627593	CHAT		Familial infantile myasthenia	Likely benign (Dec 15, 2021)	criteria provided, single submitter
Select item 208021253.	NM_020549.5(CHAT):c.1776+16C>A GRCh37: Chr10:50863298 GRCh38: Chr10:49655252	CHAT		Familial infantile myasthenia	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 207872154.	NM_020549.5(CHAT):c.286+13G>T GRCh37: Chr10:50822534 GRCh38: Chr10:49614488	CHAT		Familial infantile myasthenia	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 207842055.	NM_020549.5(CHAT):c.2219C>A (p.Thr740Lys) GRCh37: Chr10:50873064 GRCh38: Chr10:49665018	CHAT	T740K, T658K, T622K	Familial infantile myasthenia	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 207706256.	NM_020549.5(CHAT):c.1822A>T (p.Thr608Ser) GRCh37: Chr10:50863477 GRCh38: Chr10:49655431	CHAT	T526S, T490S, T608S	Familial infantile myasthenia	Uncertain significance (Jan 7, 2022)	criteria provided, single submitter
Select item 206864857.	NM_020549.5(CHAT):c.699-4G>T GRCh37: Chr10:50830139 GRCh38: Chr10:49622093	CHAT		Familial infantile myasthenia	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 206546158.	NM_020549.5(CHAT):c.196C>A (p.Arg66Ser) GRCh37: Chr10:50822431 GRCh38: Chr10:49614385	CHAT	R66S	Familial infantile myasthenia	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 206284659.	NM_020549.5(CHAT):c.1995G>T (p.Glu665Asp) GRCh37: Chr10:50872840 GRCh38: Chr10:49664794	CHAT	E583D, E665D, E547D	Familial infantile myasthenia	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 206174660.	NM_020549.5(CHAT):c.1511+12C>T GRCh37: Chr10:50857694 GRCh38: Chr10:49649648	CHAT		Familial infantile myasthenia	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 206022461.	NM_020549.5(CHAT):c.1230C>A (p.Gly410=) GRCh37: Chr10:50854669 GRCh38: Chr10:49646623	CHAT		Familial infantile myasthenia	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 205983862.	NM_020549.5(CHAT):c.1382+18G>A GRCh37: Chr10:50856671 GRCh38: Chr10:49648625	CHAT		Familial infantile myasthenia	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 205873463.	NM_020549.5(CHAT):c.1978-20T>C GRCh37: Chr10:50872803 GRCh38: Chr10:49664757	CHAT		Familial infantile myasthenia	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 205360064.	NM_020549.5(CHAT):c.1777-11T>C GRCh37: Chr10:50863421 GRCh38: Chr10:49655375	CHAT		Familial infantile myasthenia	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 205268565.	NM_020549.5(CHAT):c.715A>G (p.Ile239Val) GRCh37: Chr10:50830159 GRCh38: Chr10:49622113	CHAT	I121V, I157V, I239V	Familial infantile myasthenia	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 204632266.	NM_020549.5(CHAT):c.1383-5C>T GRCh37: Chr10:50857549 GRCh38: Chr10:49649503	CHAT		Familial infantile myasthenia	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 204528467.	NM_020549.5(CHAT):c.981G>T (p.Gly327=) GRCh37: Chr10:50835701 GRCh38: Chr10:49627655	CHAT		Familial infantile myasthenia	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 204441968.	NM_020549.5(CHAT):c.1944G>A (p.Leu648=) GRCh37: Chr10:50870795 GRCh38: Chr10:49662749	CHAT		Familial infantile myasthenia	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 204353769.	NM_020549.5(CHAT):c.166G>C (p.Gly56Arg) GRCh37: Chr10:50822401 GRCh38: Chr10:49614355	CHAT	G56R	Familial infantile myasthenia	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 204258170.	NM_020549.5(CHAT):c.869T>C (p.Leu290Pro) GRCh37: Chr10:50833635 GRCh38: Chr10:49625589	CHAT	L208P, L172P, L290P	Familial infantile myasthenia	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 204231571.	NM_020549.5(CHAT):c.806G>T (p.Cys269Phe) GRCh37: Chr10:50833572 GRCh38: Chr10:49625526	CHAT	C269F, C187F, C151F	Familial infantile myasthenia	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 204204972.	NM_020549.5(CHAT):c.1977+11G>A GRCh37: Chr10:50870839 GRCh38: Chr10:49662793	CHAT		Familial infantile myasthenia	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 204132273.	NM_020549.5(CHAT):c.1840-10A>G GRCh37: Chr10:50870681 GRCh38: Chr10:49662635	CHAT		Familial infantile myasthenia	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 203884674.	NM_020549.5(CHAT):c.548T>C (p.Leu183Pro) GRCh37: Chr10:50827931 GRCh38: Chr10:49619885	CHAT	L65P, L101P, L183P	Familial infantile myasthenia	Uncertain significance (Dec 9, 2021)	criteria provided, single submitter
Select item 202570975.	NM_020549.5(CHAT):c.981G>A (p.Gly327=) GRCh37: Chr10:50835701 GRCh38: Chr10:49627655	CHAT		Familial infantile myasthenia	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 202332976.	NM_020549.5(CHAT):c.186C>T (p.Arg62=) GRCh37: Chr10:50822421 GRCh38: Chr10:49614375	CHAT		Familial infantile myasthenia	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 201552877.	NM_020549.5(CHAT):c.1408C>G (p.Arg470Gly) GRCh37: Chr10:50857579 GRCh38: Chr10:49649533	CHAT	R352G, R470G, R388G	Familial infantile myasthenia	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 201444478.	NM_020549.5(CHAT):c.966C>T (p.Arg322=) GRCh37: Chr10:50835686 GRCh38: Chr10:49627640	CHAT		Familial infantile myasthenia	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 201366679.	NM_020549.5(CHAT):c.1764G>A (p.Lys588=) GRCh37: Chr10:50863270 GRCh38: Chr10:49655224	CHAT		Familial infantile myasthenia	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 200815380.	NM_020549.5(CHAT):c.1978-9C>G GRCh37: Chr10:50872814 GRCh38: Chr10:49664768	CHAT		Familial infantile myasthenia	Likely benign (Jun 18, 2022)	criteria provided, single submitter
Select item 200442081.	NM_020549.5(CHAT):c.1888C>G (p.Leu630Val) GRCh37: Chr10:50870739 GRCh38: Chr10:49662693	CHAT	L630V, L512V, L548V	Familial infantile myasthenia	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 199941782.	NM_020549.5(CHAT):c.1795C>T (p.Leu599Phe) GRCh37: Chr10:50863450 GRCh38: Chr10:49655404	CHAT	L481F, L599F, L517F	Familial infantile myasthenia	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 199763283.	NM_020549.5(CHAT):c.1703ACA[1] (p.Asn569del) GRCh37: Chr10:50863209-50863211 GRCh38: Chr10:49655163-49655165	CHAT	N487del, N451del, N569del	Familial infantile myasthenia	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 199696384.	NM_020549.5(CHAT):c.847C>G (p.Pro283Ala) GRCh37: Chr10:50833613 GRCh38: Chr10:49625567	CHAT	P165A, P201A, P283A	Familial infantile myasthenia	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 199151785.	NM_020549.5(CHAT):c.1387C>T (p.Gln463Ter) GRCh37: Chr10:50857558 GRCh38: Chr10:49649512	CHAT	Q345, Q463, Q381*	Familial infantile myasthenia	Pathogenic (Mar 13, 2022)	criteria provided, single submitter
Select item 198916086.	NM_020549.5(CHAT):c.1749C>T (p.Ala583=) GRCh37: Chr10:50863255 GRCh38: Chr10:49655209	CHAT		Familial infantile myasthenia	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 198871387.	NM_020549.5(CHAT):c.1699G>A (p.Val567Met) GRCh37: Chr10:50863205 GRCh38: Chr10:49655159	CHAT	V449M, V485M, V567M	Familial infantile myasthenia	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 198792788.	NM_020549.5(CHAT):c.2220G>A (p.Thr740=) GRCh37: Chr10:50873065 GRCh38: Chr10:49665019	CHAT		Familial infantile myasthenia	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 198304889.	NM_020549.5(CHAT):c.419A>C (p.Gln140Pro) GRCh37: Chr10:50827802 GRCh38: Chr10:49619756	CHAT	Q140P, Q22P, Q58P	Familial infantile myasthenia	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 198039090.	NM_020549.5(CHAT):c.1777G>A (p.Ala593Thr) GRCh37: Chr10:50863432 GRCh38: Chr10:49655386	CHAT	A475T, A511T, A593T	Familial infantile myasthenia	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 197860091.	NM_020549.5(CHAT):c.2220G>C (p.Thr740=) GRCh37: Chr10:50873065 GRCh38: Chr10:49665019	CHAT		Familial infantile myasthenia	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 197427392.	NM_020549.5(CHAT):c.1597G>A (p.Ala533Thr) GRCh37: Chr10:50860015 GRCh38: Chr10:49651969	CHAT	A415T, A533T, A451T	Familial infantile myasthenia	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 197151193.	NM_020549.5(CHAT):c.654G>T (p.Val218=) GRCh37: Chr10:50828615 GRCh38: Chr10:49620569	CHAT		Familial infantile myasthenia	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 195959294.	NM_020549.5(CHAT):c.870G>A (p.Leu290=) GRCh37: Chr10:50833636 GRCh38: Chr10:49625590	CHAT		Familial infantile myasthenia	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 195615895.	NM_020549.5(CHAT):c.1776+15A>G GRCh37: Chr10:50863297 GRCh38: Chr10:49655251	CHAT		Familial infantile myasthenia	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 195546596.	NM_020549.5(CHAT):c.372C>T (p.Pro124=) GRCh37: Chr10:50824633 GRCh38: Chr10:49616587	CHAT		Familial infantile myasthenia	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 194310097.	NM_020549.5(CHAT):c.1459T>A (p.Cys487Ser) GRCh37: Chr10:50857630 GRCh38: Chr10:49649584	CHAT	C405S, C487S, C369S	Familial infantile myasthenia	Uncertain significance (Jan 4, 2022)	criteria provided, single submitter
Select item 194245598.	NM_020549.5(CHAT):c.219C>T (p.His73=) GRCh37: Chr10:50822454 GRCh38: Chr10:49614408	CHAT		Familial infantile myasthenia	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 194158499.	NM_020549.5(CHAT):c.1777-13G>A GRCh37: Chr10:50863419 GRCh38: Chr10:49655373	CHAT		Familial infantile myasthenia	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 1937192100.	NM_020549.5(CHAT):c.1295G>A (p.Arg432Gln) GRCh37: Chr10:50856566 GRCh38: Chr10:49648520	CHAT	R432Q, R314Q, R350Q	Familial infantile myasthenia	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter

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