ClinVar for MedGen (Select 98049) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24395251.	NM_139343.3(BIN1):c.376A>G (p.Met126Val) GRCh37: Chr2:127827606 GRCh38: Chr2:127070030	BIN1	M102V, M126V, M99V	Myopathy, centronuclear, 2	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 24395242.	NM_139343.3(BIN1):c.1399G>A (p.Gly467Arg) GRCh37: Chr2:127808792 GRCh38: Chr2:127051216	BIN1	G313R, G328R, G344R, G349R, G356R, G371R, G380R, G387R, G392R, G424R, G436R, G440R, G467R	Myopathy, centronuclear, 2	Uncertain significance (Dec 2, 2019)	criteria provided, single submitter
Select item 24395233.	NM_139343.3(BIN1):c.908C>T (p.Ser303Phe) GRCh37: Chr2:127816681 GRCh38: Chr2:127059105	BIN1	S248F, S272F, S276F, S287F, S303F	Myopathy, centronuclear, 2	Uncertain significance (Nov 14, 2019)	criteria provided, single submitter
Select item 24395224.	NM_139343.3(BIN1):c.1620G>T (p.Gln540His) GRCh37: Chr2:127808051 GRCh38: Chr2:127050475	BIN1	Q332H, Q356H, Q371H, Q386H, Q401H, Q417H, Q422H, Q429H, Q444H, Q453H, Q460H, Q465H, Q497H, Q509H, Q513H, Q540H	Myopathy, centronuclear, 2	Uncertain significance (Aug 30, 2019)	criteria provided, single submitter
Select item 24395215.	NM_139343.3(BIN1):c.239A>G (p.Lys80Arg) GRCh37: Chr2:127828205 GRCh38: Chr2:127070629	BIN1	K53R, K56R, K80R	Myopathy, centronuclear, 2	Uncertain significance (Jul 24, 2019)	criteria provided, single submitter
Select item 24395206.	NM_139343.3(BIN1):c.1778C>T (p.Pro593Leu) GRCh37: Chr2:127806106 GRCh38: Chr2:127048530	BIN1	P385L, P409L, P424L, P439L, P454L, P470L, P475L, P482L, P497L, P506L, P513L, P518L, P550L, P562L, P566L, P593L	Myopathy, centronuclear, 2	Uncertain significance (Dec 16, 2019)	criteria provided, single submitter
Select item 24395197.	NM_139343.3(BIN1):c.785A>G (p.Asn262Ser) GRCh37: Chr2:127819763 GRCh38: Chr2:127062187	BIN1	N207S, N231S, N235S, N262S	Myopathy, centronuclear, 2	Uncertain significance (Dec 12, 2019)	criteria provided, single submitter
Select item 24395188.	NM_139343.3(BIN1):c.1352C>A (p.Ala451Asp) GRCh37: Chr2:127809850 GRCh38: Chr2:127052274	BIN1	A333D, A364D, A376D, A408D, A420D, A424D, A451D	Myopathy, centronuclear, 2	Uncertain significance (Apr 5, 2019)	criteria provided, single submitter
Select item 24272889.	NC_000002.11:g.(?_127825719)_(127828412_?)dup GRCh37: Chr2:127825719-127828412	BIN1		Myopathy, centronuclear, 2	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 242728710.	NC_000002.11:g.(?_127834182)_(127864519_?)dup GRCh37: Chr2:127834182-127864519	BIN1		Myopathy, centronuclear, 2	Uncertain significance (Oct 27, 2021)	criteria provided, single submitter
Select item 242127811.	NM_139343.3(BIN1):c.220+4G>A GRCh37: Chr2:127828334 GRCh38: Chr2:127070758	BIN1		Myopathy, centronuclear, 2	Uncertain significance (Sep 20, 2022)	criteria provided, single submitter
Select item 241657212.	NM_139343.3(BIN1):c.519+6G>T GRCh37: Chr2:127826494 GRCh38: Chr2:127068918	BIN1		Myopathy, centronuclear, 2	Uncertain significance (Dec 10, 2021)	criteria provided, single submitter
Select item 241350913.	NM_139343.3(BIN1):c.1264-16C>T GRCh37: Chr2:127809954 GRCh38: Chr2:127052378	BIN1		Myopathy, centronuclear, 2	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 236711914.	NM_139343.3(BIN1):c.1492T>C (p.Phe498Leu) GRCh37: Chr2:127808458 GRCh38: Chr2:127050882	BIN1	F359L, F375L, F387L, F314L, F380L, F402L, F423L, F471L, F329L, F455L, F498L, F290L, F344L, F411L, F418L, F467L	Myopathy, centronuclear, 2, Inborn genetic diseases	Uncertain significance (Nov 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220314015.	NM_139343.3(BIN1):c.953C>T (p.Pro318Leu) GRCh37: Chr2:127816636 GRCh38: Chr2:127059060	BIN1	P302L, P318L, P287L, P291L, P263L	Myopathy, centronuclear, 2	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 219754616.	NM_139343.3(BIN1):c.345C>T (p.His115=) GRCh37: Chr2:127827637 GRCh38: Chr2:127070061	BIN1		Myopathy, centronuclear, 2	Likely benign (Jan 22, 2022)	criteria provided, single submitter
Select item 219408717.	NM_139343.3(BIN1):c.142G>A (p.Val48Ile) GRCh37: Chr2:127834225 GRCh38: Chr2:127076649	BIN1	V24I, V21I, V48I	Myopathy, centronuclear, 2	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 219008118.	NM_139343.3(BIN1):c.1131+13C>T GRCh37: Chr2:127815036 GRCh38: Chr2:127057460	BIN1		Myopathy, centronuclear, 2	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 218964419.	NM_139343.3(BIN1):c.808C>T (p.Leu270=) GRCh37: Chr2:127819740 GRCh38: Chr2:127062164	BIN1		Myopathy, centronuclear, 2	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 218880920.	NM_139343.3(BIN1):c.1439C>A (p.Thr480Lys) GRCh37: Chr2:127808752 GRCh38: Chr2:127051176	BIN1	T341K, T357K, T369K, T437K, T393K, T400K, T449K, T453K, T480K, T362K, T384K, T405K, T326K	Myopathy, centronuclear, 2	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 218854321.	NM_139343.3(BIN1):c.857+12G>A GRCh37: Chr2:127819679 GRCh38: Chr2:127062103	BIN1		Myopathy, centronuclear, 2	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 218570322.	NM_139343.3(BIN1):c.821A>G (p.His274Arg) GRCh37: Chr2:127819727 GRCh38: Chr2:127062151	BIN1	H247R, H274R, H219R, H243R	Myopathy, centronuclear, 2	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 218143423.	NM_139343.3(BIN1):c.603C>T (p.Leu201=) GRCh37: Chr2:127825748 GRCh38: Chr2:127068172	BIN1		Myopathy, centronuclear, 2	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 217841224.	NM_139343.3(BIN1):c.84+16C>G GRCh37: Chr2:127864420 GRCh38: Chr2:127106844	BIN1		Myopathy, centronuclear, 2	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 217346825.	NM_139343.3(BIN1):c.858-10T>C GRCh37: Chr2:127816741 GRCh38: Chr2:127059165	BIN1		Myopathy, centronuclear, 2	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 216228326.	NM_139343.3(BIN1):c.1131+16C>T GRCh37: Chr2:127815033 GRCh38: Chr2:127057457	BIN1		Myopathy, centronuclear, 2	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 216155627.	NM_139343.3(BIN1):c.847G>A (p.Ala283Thr) GRCh37: Chr2:127819701 GRCh38: Chr2:127062125	BIN1	A228T, A283T, A252T, A256T	Myopathy, centronuclear, 2	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 216123828.	NM_139343.3(BIN1):c.412-4C>T GRCh37: Chr2:127826611 GRCh38: Chr2:127069035	BIN1		Myopathy, centronuclear, 2	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 215385629.	NM_139343.3(BIN1):c.1601C>G (p.Thr534Ser) GRCh37: Chr2:127808070 GRCh38: Chr2:127050494	BIN1	T416S, T423S, T447S, T507S, T365S, T438S, T503S, T534S, T454S, T459S, T326S, T350S, T380S, T395S, T411S, T491S	Myopathy, centronuclear, 2	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 214611430.	NM_139343.3(BIN1):c.1557A>C (p.Pro519=) GRCh37: Chr2:127808393 GRCh38: Chr2:127050817	BIN1		Myopathy, centronuclear, 2	Likely benign (Jul 9, 2022)	criteria provided, single submitter
Select item 214444431.	NM_139343.3(BIN1):c.1674+19C>T GRCh37: Chr2:127807978 GRCh38: Chr2:127050402	BIN1		Myopathy, centronuclear, 2	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 214166732.	NM_139343.3(BIN1):c.1201G>A (p.Val401Met) GRCh37: Chr2:127811519 GRCh38: Chr2:127053943	BIN1	V358M, V370M, V374M, V401M	Myopathy, centronuclear, 2	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 213182833.	NM_139343.3(BIN1):c.411+15T>G GRCh37: Chr2:127827556 GRCh38: Chr2:127069980	BIN1		Myopathy, centronuclear, 2	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 213039434.	NM_139343.3(BIN1):c.935T>G (p.Val312Gly) GRCh37: Chr2:127816654 GRCh38: Chr2:127059078	BIN1	V296G, V312G, V257G, V281G, V285G	Myopathy, centronuclear, 2	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 212341135.	NM_139343.3(BIN1):c.27G>A (p.Val9=) GRCh37: Chr2:127864493 GRCh38: Chr2:127106917	BIN1		Myopathy, centronuclear, 2	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 211920236.	NM_139343.3(BIN1):c.574G>T (p.Ala192Ser) GRCh37: Chr2:127825777 GRCh38: Chr2:127068201	BIN1	A192S, A165S	Myopathy, centronuclear, 2	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 210754137.	NM_139343.3(BIN1):c.865G>A (p.Ala289Thr) GRCh37: Chr2:127816724 GRCh38: Chr2:127059148	BIN1	A289T, A234T, A262T, A273T, A258T	Myopathy, centronuclear, 2	Uncertain significance (Oct 12, 2022)	criteria provided, single submitter
Select item 210651838.	NM_139343.3(BIN1):c.1326T>G (p.Phe442Leu) GRCh37: Chr2:127809876 GRCh38: Chr2:127052300	BIN1	F367L, F442L, F399L, F415L, F355L, F324L, F411L	Myopathy, centronuclear, 2	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 210382439.	NM_139343.3(BIN1):c.220+15_220+21del GRCh37: Chr2:127828317-127828323 GRCh38: Chr2:127070741-127070747	BIN1		Myopathy, centronuclear, 2	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 208295240.	NM_139343.3(BIN1):c.61A>C (p.Lys21Gln) GRCh37: Chr2:127864459 GRCh38: Chr2:127106883	BIN1	K21Q	Myopathy, centronuclear, 2	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 208010541.	NM_139343.3(BIN1):c.1524C>T (p.Gly508=) GRCh37: Chr2:127808426 GRCh38: Chr2:127050850	BIN1		Myopathy, centronuclear, 2	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 207754342.	NM_139343.3(BIN1):c.1695C>T (p.Gly565=) GRCh37: Chr2:127806189 GRCh38: Chr2:127048613	BIN1		Myopathy, centronuclear, 2	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 207564943.	NM_139343.3(BIN1):c.701G>A (p.Arg234His) GRCh37: Chr2:127821220 GRCh38: Chr2:127063644	BIN1	R179H, R207H, R203H, R234H	Myopathy, centronuclear, 2	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 207340044.	NM_139343.3(BIN1):c.528G>T (p.Ser176=) GRCh37: Chr2:127825823 GRCh38: Chr2:127068247	BIN1		Myopathy, centronuclear, 2	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 207311345.	NM_139343.3(BIN1):c.662T>A (p.Val221Glu) GRCh37: Chr2:127821545 GRCh38: Chr2:127063969	BIN1	V166E, V194E, V190E, V221E	Myopathy, centronuclear, 2	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 207249146.	NM_139343.3(BIN1):c.1766C>T (p.Thr589Ile) GRCh37: Chr2:127806118 GRCh38: Chr2:127048542	BIN1	T381I, T405I, T420I, T471I, T493I, T558I, T435I, T478I, T450I, T502I, T509I, T546I, T466I, T514I, T562I, T589I	Myopathy, centronuclear, 2	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 206383747.	NM_139343.3(BIN1):c.1573-13G>A GRCh37: Chr2:127808111 GRCh38: Chr2:127050535	BIN1		Myopathy, centronuclear, 2	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 206231448.	NM_139343.3(BIN1):c.316-11G>T GRCh37: Chr2:127827677 GRCh38: Chr2:127070101	BIN1		Myopathy, centronuclear, 2	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 205825949.	NM_139343.3(BIN1):c.1020A>G (p.Pro340=) GRCh37: Chr2:127815160 GRCh38: Chr2:127057584	BIN1		Myopathy, centronuclear, 2	Likely benign (Mar 25, 2022)	criteria provided, single submitter
Select item 205345650.	NM_139343.3(BIN1):c.1200C>T (p.Pro400=) GRCh37: Chr2:127811520 GRCh38: Chr2:127053944	BIN1		Myopathy, centronuclear, 2	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 205337051.	NM_139343.3(BIN1):c.1573-19C>T GRCh37: Chr2:127808117 GRCh38: Chr2:127050541	BIN1		Myopathy, centronuclear, 2	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 204317452.	NM_139343.3(BIN1):c.916G>A (p.Ala306Thr) GRCh37: Chr2:127816673 GRCh38: Chr2:127059097	BIN1	A251T, A279T, A275T, A306T, A290T	Myopathy, centronuclear, 2	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 204066053.	NM_139343.3(BIN1):c.789C>T (p.Leu263=) GRCh37: Chr2:127819759 GRCh38: Chr2:127062183	BIN1		Myopathy, centronuclear, 2	Likely benign (Mar 30, 2022)	criteria provided, single submitter
Select item 203985754.	NM_139343.3(BIN1):c.1755C>T (p.Pro585=) GRCh37: Chr2:127806129 GRCh38: Chr2:127048553	BIN1		Myopathy, centronuclear, 2	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 203972055.	NM_139343.3(BIN1):c.84+6C>A GRCh37: Chr2:127864430 GRCh38: Chr2:127106854	BIN1		Myopathy, centronuclear, 2	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 203738856.	NM_139343.3(BIN1):c.166-16G>T GRCh37: Chr2:127828408 GRCh38: Chr2:127070832	BIN1		Myopathy, centronuclear, 2	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 203100257.	NM_139343.3(BIN1):c.1462-13C>T GRCh37: Chr2:127808501 GRCh38: Chr2:127050925	BIN1		Myopathy, centronuclear, 2	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 202623158.	NM_139343.3(BIN1):c.84+10C>A GRCh37: Chr2:127864426 GRCh38: Chr2:127106850	BIN1		Myopathy, centronuclear, 2	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 202340359.	NM_139343.3(BIN1):c.1251G>C (p.Trp417Cys) GRCh37: Chr2:127811010 GRCh38: Chr2:127053434	BIN1	W390C, W417C, W386C, W374C	Myopathy, centronuclear, 2	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 201903860.	NM_139343.3(BIN1):c.1470del (p.Pro491fs) GRCh37: Chr2:127808480 GRCh38: Chr2:127050904	BIN1	P368fs, P380fs, P464fs, P307fs, P322fs, P352fs, P411fs, P460fs, P283fs, P373fs, P395fs, P448fs, P491fs, P337fs, P404fs, P416fs	Myopathy, centronuclear, 2	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 201890261.	NM_139343.3(BIN1):c.411+1G>T GRCh37: Chr2:127827570 GRCh38: Chr2:127069994	BIN1		Myopathy, centronuclear, 2	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 201336162.	NM_139343.3(BIN1):c.969_980dup (p.Thr327_Leu328insProGlyAlaThr) GRCh37: Chr2:127816608-127816609 GRCh38: Chr2:127059032-127059033	BIN1		Myopathy, centronuclear, 2	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 201244463.	NM_139343.3(BIN1):c.165+1G>A GRCh37: Chr2:127834201 GRCh38: Chr2:127076625	BIN1		Myopathy, centronuclear, 2	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 200583564.	NM_139343.3(BIN1):c.1532G>A (p.Gly511Glu) GRCh37: Chr2:127808418 GRCh38: Chr2:127050842	BIN1	G303E, G388E, G415E, G424E, G468E, G480E, G484E, G357E, G431E, G342E, G372E, G400E, G511E, G327E, G393E, G436E	Myopathy, centronuclear, 2	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 199837165.	NM_139343.3(BIN1):c.5C>T (p.Ala2Val) GRCh37: Chr2:127864515 GRCh38: Chr2:127106939	BIN1	A2V	Myopathy, centronuclear, 2	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 199771266.	NM_139343.3(BIN1):c.1208G>A (p.Ser403Asn) GRCh37: Chr2:127811512 GRCh38: Chr2:127053936	BIN1	S360N, S372N, S376N, S403N	Myopathy, centronuclear, 2	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 199172267.	NM_139343.3(BIN1):c.774+9T>C GRCh37: Chr2:127821138 GRCh38: Chr2:127063562	BIN1		Myopathy, centronuclear, 2	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 198404268.	NM_139343.3(BIN1):c.1263+12G>A GRCh37: Chr2:127810986 GRCh38: Chr2:127053410	BIN1		Myopathy, centronuclear, 2	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 198208869.	NM_139343.3(BIN1):c.1227G>A (p.Thr409=) GRCh37: Chr2:127811493 GRCh38: Chr2:127053917	BIN1		Myopathy, centronuclear, 2	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 198188870.	NM_139343.3(BIN1):c.618G>A (p.Glu206=) GRCh37: Chr2:127821589 GRCh38: Chr2:127064013	BIN1		Myopathy, centronuclear, 2	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 197937371.	NM_139343.3(BIN1):c.366G>A (p.Ala122=) GRCh37: Chr2:127827616 GRCh38: Chr2:127070040	BIN1		Myopathy, centronuclear, 2	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 197778572.	NM_139343.3(BIN1):c.1124C>T (p.Pro375Leu) GRCh37: Chr2:127815056 GRCh38: Chr2:127057480	BIN1	P348L, P344L, P375L, P359L	Myopathy, centronuclear, 2	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 197187973.	NM_139343.3(BIN1):c.313_314delinsTT (p.Glu105Leu) GRCh37: Chr2:127828130-127828131 GRCh38: Chr2:127070554-127070555	BIN1	E78L, E105L, E81L	Myopathy, centronuclear, 2	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 196956374.	NM_139343.3(BIN1):c.432G>T (p.Gly144=) GRCh37: Chr2:127826587 GRCh38: Chr2:127069011	BIN1		Myopathy, centronuclear, 2	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 196238175.	NM_139343.3(BIN1):c.1408C>G (p.Pro470Ala) GRCh37: Chr2:127808783 GRCh38: Chr2:127051207	BIN1	P316A, P359A, P390A, P395A, P347A, P374A, P383A, P470A, P331A, P427A, P439A, P443A, P352A	Myopathy, centronuclear, 2	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 196200076.	NM_139343.3(BIN1):c.1695C>A (p.Gly565=) GRCh37: Chr2:127806189 GRCh38: Chr2:127048613	BIN1		Myopathy, centronuclear, 2	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 195902877.	NM_139343.3(BIN1):c.775-8T>C GRCh37: Chr2:127819781 GRCh38: Chr2:127062205	BIN1		Myopathy, centronuclear, 2	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 195446078.	NM_139343.3(BIN1):c.1018C>G (p.Pro340Ala) GRCh37: Chr2:127815162 GRCh38: Chr2:127057586	BIN1	P313A, P324A, P309A, P340A	Myopathy, centronuclear, 2	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 195328279.	NM_139343.3(BIN1):c.29C>T (p.Thr10Met) GRCh37: Chr2:127864491 GRCh38: Chr2:127106915	BIN1	T10M	Myopathy, centronuclear, 2	Uncertain significance (Jan 27, 2022)	criteria provided, single submitter
Select item 194749080.	NM_139343.3(BIN1):c.969_980del (p.Pro324_Thr327del) GRCh37: Chr2:127816609-127816620 GRCh38: Chr2:127059033-127059044	BIN1		Myopathy, centronuclear, 2	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 194569081.	NM_139343.3(BIN1):c.519+15C>T GRCh37: Chr2:127826485 GRCh38: Chr2:127068909	BIN1		Myopathy, centronuclear, 2	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 193726182.	NM_139343.3(BIN1):c.1286G>A (p.Ser429Asn) GRCh37: Chr2:127809916 GRCh38: Chr2:127052340	BIN1	S386N, S402N, S354N, S398N, S342N, S429N, S311N	Myopathy, centronuclear, 2	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 192766983.	NM_139343.3(BIN1):c.84+11C>T GRCh37: Chr2:127864425 GRCh38: Chr2:127106849	BIN1		Myopathy, centronuclear, 2	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 192326184.	NM_139343.3(BIN1):c.411+5G>C GRCh37: Chr2:127827566 GRCh38: Chr2:127069990	BIN1		Myopathy, centronuclear, 2	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 191882685.	NM_139343.3(BIN1):c.403G>A (p.Asp135Asn) GRCh37: Chr2:127827579 GRCh38: Chr2:127070003	BIN1	D108N, D111N, D135N	Myopathy, centronuclear, 2, Inborn genetic diseases	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 191729386.	NM_139343.3(BIN1):c.520-13C>T GRCh37: Chr2:127825844 GRCh38: Chr2:127068268	BIN1		Myopathy, centronuclear, 2	Likely benign (Jan 3, 2022)	criteria provided, single submitter
Select item 191604087.	NM_139343.3(BIN1):c.1162G>A (p.Ala388Thr) GRCh37: Chr2:127811558 GRCh38: Chr2:127053982	BIN1	A357T, A388T, A345T, A361T	Myopathy, centronuclear, 2	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 191362188.	NM_139343.3(BIN1):c.1145G>A (p.Gly382Glu) GRCh37: Chr2:127811575 GRCh38: Chr2:127053999	BIN1	G339E, G351E, G382E, G355E	Myopathy, centronuclear, 2	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 191226789.	NM_139343.3(BIN1):c.412-15C>T GRCh37: Chr2:127826622 GRCh38: Chr2:127069046	BIN1		Myopathy, centronuclear, 2	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 190927590.	NM_139343.3(BIN1):c.167C>T (p.Thr56Met) GRCh37: Chr2:127828391 GRCh38: Chr2:127070815	BIN1	T32M, T29M, T56M	Inborn genetic diseases, Myopathy, centronuclear, 2	Uncertain significance (Apr 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180082091.	NM_139343.3(BIN1):c.1349C>T (p.Thr450Met) GRCh37: Chr2:127809853 GRCh38: Chr2:127052277	BIN1	T332M, T363M, T375M, T407M, T419M, T423M, T450M	not provided, Myopathy, centronuclear, 2	Uncertain significance (May 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172124392.	NM_139343.3(BIN1):c.1113C>G (p.Ser371Arg) GRCh37: Chr2:127815067 GRCh38: Chr2:127057491	BIN1	S340R, S344R, S355R, S371R	Myopathy, centronuclear, 2	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 171903293.	NM_139343.3(BIN1):c.1366G>A (p.Ala456Thr) GRCh37: Chr2:127809836 GRCh38: Chr2:127052260	BIN1	A338T, A369T, A381T, A413T, A425T, A429T, A456T	Myopathy, centronuclear, 2	Uncertain significance (Sep 15, 2022)	criteria provided, single submitter
Select item 169075094.	NM_139343.3(BIN1):c.1372-1G>A GRCh37: Chr2:127808820 GRCh38: Chr2:127051244	BIN1		See cases, Myopathy, centronuclear, 2	Conflicting interpretations of pathogenicity (Mar 10, 2022)	criteria provided, conflicting interpretations
Select item 167366995.	NM_139343.3(BIN1):c.1372-7G>T GRCh37: Chr2:127808826 GRCh38: Chr2:127051250	BIN1		Myopathy, centronuclear, 2	Likely benign (Nov 1, 2021)	criteria provided, single submitter
Select item 167195996.	NM_139343.3(BIN1):c.613-14G>A GRCh37: Chr2:127821608 GRCh38: Chr2:127064032	BIN1		Myopathy, centronuclear, 2	Likely benign (May 10, 2022)	criteria provided, single submitter
Select item 166933097.	NM_139343.3(BIN1):c.582C>T (p.Leu194=) GRCh37: Chr2:127825769 GRCh38: Chr2:127068193	BIN1		Myopathy, centronuclear, 2	Likely benign (Nov 17, 2020)	criteria provided, single submitter
Select item 166898498.	NM_139343.3(BIN1):c.220+18C>T GRCh37: Chr2:127828320 GRCh38: Chr2:127070744	BIN1		Myopathy, centronuclear, 2	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 166763499.	NM_139343.3(BIN1):c.412-11G>C GRCh37: Chr2:127826618 GRCh38: Chr2:127069042	BIN1		Myopathy, centronuclear, 2	Likely benign (Jun 15, 2021)	criteria provided, single submitter
Select item 1658456100.	NM_139343.3(BIN1):c.321C>T (p.Asn107=) GRCh37: Chr2:127827661 GRCh38: Chr2:127070085	BIN1		Myopathy, centronuclear, 2	Likely benign (Jun 20, 2022)	criteria provided, single submitter

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