ClinVar for MedGen (Select 908185) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24421881.	NM_000747.3(CHRNB1):c.1404C>A (p.Asp468Glu) GRCh37: Chr17:7359940 GRCh38: Chr17:7456621	CHRNB1	D468E	Congenital myasthenic syndrome 2A	Uncertain significance (Mar 21, 2022)	criteria provided, single submitter
Select item 24268682.	NM_000747.3(CHRNB1):c.336C>T (p.Asp112=) GRCh37: Chr17:7350244 GRCh38: Chr17:7446925	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 24233893.	NC_000017.10:g.(?_7359882)_(7360042_?)del GRCh37: Chr17:7359882-7360042	CHRNB1		Congenital myasthenic syndrome 2A	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 24221364.	NC_000017.10:g.(?_6328780)_(7606804_?)dup GRCh37: Chr17:6328780-7606804	ASGR2, BCL6B, C17orf100, C17orf49, CD68, ATP1B2, CHRNB1, CLDN7, CLEC10A, ACADVL, ACAP1, AIPL1, ALOX12, ASGR1, CTDNEP1, DLG4, DVL2, EIF4A1, EIF5A, ELP5, FBXO39, FGF11, FXR2, GABARAP, GPS2, KCTD11, KIAA0753, MED31, MIR195, MIR497HG, MPDU1, NEURL4, NLGN2, PHF23, PIMREG, PITPNM3, PLSCR3, POLR2A, RNASEK, SAT2, SENP3, SHBG, SLC13A5, SLC16A11, SLC16A13, SLC2A4, SLC35G6, SOX15, SPEM1, SPEM2, TEKT1, TMEM102, TMEM256, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TXNDC17, WRAP53, XAF1, YBX2, ZBTB4		Congenital myasthenic syndrome 2A, Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 24203435.	NM_000747.3(CHRNB1):c.667G>A (p.Asp223Asn) GRCh37: Chr17:7351954 GRCh38: Chr17:7448635	CHRNB1	D223N	Congenital myasthenic syndrome 2A	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 24202746.	NM_000747.3(CHRNB1):c.512C>G (p.Ser171Cys) GRCh37: Chr17:7350871 GRCh38: Chr17:7447552	CHRNB1	S171C	Congenital myasthenic syndrome 2A	Uncertain significance (Jul 31, 2022)	criteria provided, single submitter
Select item 24155677.	NM_000747.3(CHRNB1):c.1218-15T>C GRCh37: Chr17:7359098 GRCh38: Chr17:7455779	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 21943108.	NM_000747.3(CHRNB1):c.92G>A (p.Arg31Gln) GRCh37: Chr17:7348622 GRCh38: Chr17:7445303	CHRNB1	R31Q	Congenital myasthenic syndrome 2A	Uncertain significance (Jan 13, 2022)	criteria provided, single submitter
Select item 21928059.	NM_000747.3(CHRNB1):c.1306G>T (p.Val436Phe) GRCh37: Chr17:7359201 GRCh38: Chr17:7455882	CHRNB1	V436F	Congenital myasthenic syndrome 2A	Uncertain significance (Sep 15, 2022)	criteria provided, single submitter
Select item 219229210.	NM_000747.3(CHRNB1):c.353+5_353+7del GRCh37: Chr17:7350264-7350266 GRCh38: Chr17:7446945-7446947	CHRNB1		Congenital myasthenic syndrome 2A	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 219184911.	NM_000747.3(CHRNB1):c.515A>G (p.Tyr172Cys) GRCh37: Chr17:7350874 GRCh38: Chr17:7447555	CHRNB1	Y172C	Congenital myasthenic syndrome 2A	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 217376912.	NM_000747.3(CHRNB1):c.1164T>C (p.Asp388=) GRCh37: Chr17:7358722 GRCh38: Chr17:7455403	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 217140213.	NM_000747.3(CHRNB1):c.766T>C (p.Cys256Arg) GRCh37: Chr17:7352053 GRCh38: Chr17:7448734	CHRNB1	C256R	Congenital myasthenic syndrome 2A, Inborn genetic diseases	Uncertain significance (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216845514.	NM_000747.3(CHRNB1):c.58+4A>G GRCh37: Chr17:7348508 GRCh38: Chr17:7445189	CHRNB1		Congenital myasthenic syndrome 2A	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 216797715.	NM_000747.3(CHRNB1):c.981C>T (p.Val327=) GRCh37: Chr17:7357776 GRCh38: Chr17:7454457	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 216700316.	NM_000747.3(CHRNB1):c.387T>C (p.Ile129=) GRCh37: Chr17:7350395 GRCh38: Chr17:7447076	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 215791817.	NM_000747.3(CHRNB1):c.406G>T (p.Asp136Tyr) GRCh37: Chr17:7350414 GRCh38: Chr17:7447095	CHRNB1	D136Y	Congenital myasthenic syndrome 2A	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 215371018.	NM_000747.3(CHRNB1):c.504G>T (p.Val168=) GRCh37: Chr17:7350863 GRCh38: Chr17:7447544	CHRNB1		Congenital myasthenic syndrome 2A	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 215147519.	NM_000747.3(CHRNB1):c.165C>G (p.Ser55Arg) GRCh37: Chr17:7348695 GRCh38: Chr17:7445376	CHRNB1	S55R	Congenital myasthenic syndrome 2A	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 214551320.	NM_000747.3(CHRNB1):c.233A>G (p.Tyr78Cys) GRCh37: Chr17:7349422 GRCh38: Chr17:7446103	CHRNB1	Y78C	Congenital myasthenic syndrome 2A	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 214443321.	NM_000747.3(CHRNB1):c.611-1G>C GRCh37: Chr17:7351897 GRCh38: Chr17:7448578	CHRNB1		Congenital myasthenic syndrome 2A	Likely pathogenic (Feb 20, 2022)	criteria provided, single submitter
Select item 214272222.	NM_000747.3(CHRNB1):c.516C>T (p.Tyr172=) GRCh37: Chr17:7350875 GRCh38: Chr17:7447556	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 214112823.	NM_000747.3(CHRNB1):c.821-14C>T GRCh37: Chr17:7357602 GRCh38: Chr17:7454283	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 211801924.	NM_000747.3(CHRNB1):c.611-6C>T GRCh37: Chr17:7351892 GRCh38: Chr17:7448573	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 211801625.	NM_000747.3(CHRNB1):c.1102_1103del (p.Asp368fs) GRCh37: Chr17:7358654-7358655 GRCh38: Chr17:7455335-7455336	CHRNB1	D368fs	Congenital myasthenic syndrome 2A	Pathogenic (Jun 24, 2022)	criteria provided, single submitter
Select item 211263826.	NM_000747.3(CHRNB1):c.354C>T (p.Asn118=) GRCh37: Chr17:7350362 GRCh38: Chr17:7447043	CHRNB1		Congenital myasthenic syndrome 2A	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 210775627.	NM_000747.3(CHRNB1):c.1230_1244dup (p.Pro414_Asp415insGluLeuSerAlaPro) GRCh37: Chr17:7359119-7359120 GRCh38: Chr17:7455800-7455801	CHRNB1		Congenital myasthenic syndrome 2A	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 210538328.	NM_000747.3(CHRNB1):c.59-3_60dup GRCh37: Chr17:7348584-7348585 GRCh38: Chr17:7445265-7445266	CHRNB1		Congenital myasthenic syndrome 2A	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 209563429.	NM_000747.3(CHRNB1):c.1248G>C (p.Leu416=) GRCh37: Chr17:7359143 GRCh38: Chr17:7455824	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 209550730.	NM_000747.3(CHRNB1):c.993C>T (p.Asn331=) GRCh37: Chr17:7357788 GRCh38: Chr17:7454469	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 208703531.	NM_000747.3(CHRNB1):c.1066C>T (p.Leu356=) GRCh37: Chr17:7358624 GRCh38: Chr17:7455305	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 208539632.	NM_000747.3(CHRNB1):c.199-2A>C GRCh37: Chr17:7349386 GRCh38: Chr17:7446067	CHRNB1		Congenital myasthenic syndrome 2A, not provided	Conflicting interpretations of pathogenicity (Jan 15, 2022)	criteria provided, conflicting interpretations
Select item 207996433.	NM_000747.3(CHRNB1):c.1245_1247delinsATC (p.Asp415_Leu416delinsGluSer) GRCh37: Chr17:7359140-7359142 GRCh38: Chr17:7455821-7455823	CHRNB1		Congenital myasthenic syndrome 2A	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 206926134.	NM_000747.3(CHRNB1):c.1062T>G (p.Leu354=) GRCh37: Chr17:7358620 GRCh38: Chr17:7455301	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 206753535.	NM_000747.3(CHRNB1):c.29TGGGGGCGC[1] (p.10LGA[1]) GRCh37: Chr17:7348473-7348481 GRCh38: Chr17:7445154-7445162	CHRNB1		Congenital myasthenic syndrome 2A	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 206157236.	NM_000747.3(CHRNB1):c.715C>T (p.Leu239Phe) GRCh37: Chr17:7352002 GRCh38: Chr17:7448683	CHRNB1	L239F	Congenital myasthenic syndrome 2A, Inborn genetic diseases	Uncertain significance (Sep 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206144337.	NM_000747.3(CHRNB1):c.557G>A (p.Gly186Asp) GRCh37: Chr17:7350916 GRCh38: Chr17:7447597	CHRNB1	G186D	Congenital myasthenic syndrome 2A	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 205823438.	NM_000747.3(CHRNB1):c.901A>G (p.Thr301Ala) GRCh37: Chr17:7357696 GRCh38: Chr17:7454377	CHRNB1	T301A	Congenital myasthenic syndrome 2A	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 205776639.	NM_000747.3(CHRNB1):c.299C>T (p.Ser100Leu) GRCh37: Chr17:7350207 GRCh38: Chr17:7446888	CHRNB1	S100L	Congenital myasthenic syndrome 2A	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 205067240.	NM_000747.3(CHRNB1):c.198+17G>C GRCh37: Chr17:7348745 GRCh38: Chr17:7445426	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 205005741.	NM_000747.3(CHRNB1):c.477C>G (p.Pro159=) GRCh37: Chr17:7350836 GRCh38: Chr17:7447517	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 204769042.	NM_000747.3(CHRNB1):c.820+16G>T GRCh37: Chr17:7352123 GRCh38: Chr17:7448804	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 204443843.	NM_000747.3(CHRNB1):c.198+15G>T GRCh37: Chr17:7348743 GRCh38: Chr17:7445424	CHRNB1		Congenital myasthenic syndrome 2A	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 204213044.	NM_000747.3(CHRNB1):c.58+12C>A GRCh37: Chr17:7348516 GRCh38: Chr17:7445197	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 204047445.	NM_000747.3(CHRNB1):c.288C>A (p.Asp96Glu) GRCh37: Chr17:7350196 GRCh38: Chr17:7446877	CHRNB1	D96E	Congenital myasthenic syndrome 2A	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 203856646.	NM_000747.3(CHRNB1):c.13G>A (p.Ala5Thr) GRCh37: Chr17:7348459 GRCh38: Chr17:7445140	CHRNB1	A5T	Congenital myasthenic syndrome 2A	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 203807047.	NM_000747.3(CHRNB1):c.689G>A (p.Gly230Glu) GRCh37: Chr17:7351976 GRCh38: Chr17:7448657	CHRNB1	G230E	Congenital myasthenic syndrome 2A, not provided	Uncertain significance (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 202605648.	NM_000747.3(CHRNB1):c.354-6C>G GRCh37: Chr17:7350356 GRCh38: Chr17:7447037	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 202308549.	NM_000747.3(CHRNB1):c.1072_1073del (p.Leu358fs) GRCh37: Chr17:7358630-7358631 GRCh38: Chr17:7455311-7455312	CHRNB1	L358fs	Congenital myasthenic syndrome 2A	Pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 199895550.	NM_000747.3(CHRNB1):c.1195T>C (p.Phe399Leu) GRCh37: Chr17:7358753 GRCh38: Chr17:7455434	CHRNB1	F399L	Congenital myasthenic syndrome 2A	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 199505651.	NM_000747.3(CHRNB1):c.1172T>G (p.Phe391Cys) GRCh37: Chr17:7358730 GRCh38: Chr17:7455411	CHRNB1	F391C	Congenital myasthenic syndrome 2A	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 198613452.	NM_000747.3(CHRNB1):c.670C>A (p.Pro224Thr) GRCh37: Chr17:7351957 GRCh38: Chr17:7448638	CHRNB1	P224T	Congenital myasthenic syndrome 2A	Uncertain significance (May 23, 2022)	criteria provided, single submitter
Select item 198486453.	NM_000747.3(CHRNB1):c.38T>C (p.Leu13Pro) GRCh37: Chr17:7348484 GRCh38: Chr17:7445165	CHRNB1	L13P	Congenital myasthenic syndrome 2A	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 198212054.	NM_000747.3(CHRNB1):c.1005C>T (p.Arg335=) GRCh37: Chr17:7357800 GRCh38: Chr17:7454481	CHRNB1		not provided, Congenital myasthenic syndrome 2A	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 197837855.	NM_000747.3(CHRNB1):c.1329C>T (p.Ile443=) GRCh37: Chr17:7359224 GRCh38: Chr17:7455905	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 197742456.	NM_000747.3(CHRNB1):c.1420A>G (p.Thr474Ala) GRCh37: Chr17:7359956 GRCh38: Chr17:7456637	CHRNB1	T474A	Congenital myasthenic syndrome 2A	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 197731657.	NM_000747.3(CHRNB1):c.198+14G>C GRCh37: Chr17:7348742 GRCh38: Chr17:7445423	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 197384958.	NM_000747.3(CHRNB1):c.593A>C (p.His198Pro) GRCh37: Chr17:7350952 GRCh38: Chr17:7447633	CHRNB1	H198P	Congenital myasthenic syndrome 2A	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 195272859.	NM_000747.3(CHRNB1):c.610+13G>T GRCh37: Chr17:7350982 GRCh38: Chr17:7447663	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (May 14, 2022)	criteria provided, single submitter
Select item 194815560.	NM_000747.3(CHRNB1):c.1410C>T (p.Leu470=) GRCh37: Chr17:7359946 GRCh38: Chr17:7456627	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 194342961.	NM_000747.3(CHRNB1):c.1279G>A (p.Val427Met) GRCh37: Chr17:7359174 GRCh38: Chr17:7455855	CHRNB1	V427M	Congenital myasthenic syndrome 2A	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 194099162.	NM_000747.3(CHRNB1):c.963C>G (p.Phe321Leu) GRCh37: Chr17:7357758 GRCh38: Chr17:7454439	CHRNB1	F321L	Inborn genetic diseases, Congenital myasthenic syndrome 2A	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 193240763.	NM_000747.3(CHRNB1):c.1217+15G>T GRCh37: Chr17:7358790 GRCh38: Chr17:7455471	CHRNB1		Congenital myasthenic syndrome 2A	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 192212164.	NM_000747.3(CHRNB1):c.321C>T (p.Ser107=) GRCh37: Chr17:7350229 GRCh38: Chr17:7446910	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Mar 16, 2022)	criteria provided, single submitter
Select item 191828065.	NM_000747.3(CHRNB1):c.1096G>A (p.Glu366Lys) GRCh37: Chr17:7358654 GRCh38: Chr17:7455335	CHRNB1	E366K	Congenital myasthenic syndrome 2A	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 191049666.	NM_000747.3(CHRNB1):c.930G>A (p.Lys310=) GRCh37: Chr17:7357725 GRCh38: Chr17:7454406	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 190604067.	NM_000747.3(CHRNB1):c.1472C>T (p.Thr491Met) GRCh37: Chr17:7360008 GRCh38: Chr17:7456689	CHRNB1	T491M	Congenital myasthenic syndrome 2A	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 166819168.	NM_000747.3(CHRNB1):c.198+10C>G GRCh37: Chr17:7348738 GRCh38: Chr17:7445419	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Dec 21, 2021)	criteria provided, single submitter
Select item 165392869.	NM_000747.3(CHRNB1):c.821-20C>T GRCh37: Chr17:7357596 GRCh38: Chr17:7454277	CHRNB1		Congenital myasthenic syndrome 2A	Benign (Oct 25, 2022)	criteria provided, single submitter
Select item 163195270.	NM_000747.3(CHRNB1):c.480C>T (p.Phe160=) GRCh37: Chr17:7350839 GRCh38: Chr17:7447520	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Dec 15, 2021)	criteria provided, single submitter
Select item 163148071.	NM_000747.3(CHRNB1):c.611-15_611-13del GRCh37: Chr17:7351881-7351883 GRCh38: Chr17:7448562-7448564	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 163068172.	NM_000747.3(CHRNB1):c.183G>T (p.Ala61=) GRCh37: Chr17:7348713 GRCh38: Chr17:7445394	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Mar 26, 2021)	criteria provided, single submitter
Select item 162640973.	NM_000747.3(CHRNB1):c.1045-11C>G GRCh37: Chr17:7358592 GRCh38: Chr17:7455273	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 162605974.	NM_000747.3(CHRNB1):c.303C>T (p.Leu101=) GRCh37: Chr17:7350211 GRCh38: Chr17:7446892	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Nov 15, 2020)	criteria provided, single submitter
Select item 162275075.	NM_000747.3(CHRNB1):c.1365+16G>T GRCh37: Chr17:7359276 GRCh38: Chr17:7455957	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 160922176.	NM_000747.3(CHRNB1):c.852G>T (p.Leu284=) GRCh37: Chr17:7357647 GRCh38: Chr17:7454328	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Aug 18, 2022)	criteria provided, single submitter
Select item 159492377.	NM_000747.3(CHRNB1):c.58+20G>A GRCh37: Chr17:7348524 GRCh38: Chr17:7445205	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Apr 2, 2021)	criteria provided, single submitter
Select item 159422678.	NM_000747.3(CHRNB1):c.462+7G>A GRCh37: Chr17:7350477 GRCh38: Chr17:7447158	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Aug 14, 2021)	criteria provided, single submitter
Select item 158379979.	NM_000747.3(CHRNB1):c.1362T>C (p.Asp454=) GRCh37: Chr17:7359257 GRCh38: Chr17:7455938	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Sep 18, 2021)	criteria provided, single submitter
Select item 158015580.	NM_000747.3(CHRNB1):c.192C>T (p.Ile64=) GRCh37: Chr17:7348722 GRCh38: Chr17:7445403	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 157693481.	NM_000747.3(CHRNB1):c.1044+12CTC[2] GRCh37: Chr17:7357851-7357853 GRCh38: Chr17:7454532-7454534	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 157668882.	NM_000747.3(CHRNB1):c.1497C>T (p.Pro499=) GRCh37: Chr17:7360033 GRCh38: Chr17:7456714	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Oct 8, 2021)	criteria provided, single submitter
Select item 156789383.	NM_000747.3(CHRNB1):c.972C>T (p.Ile324=) GRCh37: Chr17:7357767 GRCh38: Chr17:7454448	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Jun 22, 2021)	criteria provided, single submitter
Select item 154704284.	NM_000747.3(CHRNB1):c.330C>G (p.Leu110=) GRCh37: Chr17:7350238 GRCh38: Chr17:7446919	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 154024885.	NM_000747.3(CHRNB1):c.1217+11G>A GRCh37: Chr17:7358786 GRCh38: Chr17:7455467	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Sep 20, 2021)	criteria provided, single submitter
Select item 153621986.	NM_000747.3(CHRNB1):c.199-13T>G GRCh37: Chr17:7349375 GRCh38: Chr17:7446056	CHRNB1		Congenital myasthenic syndrome 2A	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 152378987.	NM_000747.3(CHRNB1):c.706A>C (p.Ile236Leu) GRCh37: Chr17:7351993 GRCh38: Chr17:7448674	CHRNB1	I236L	Congenital myasthenic syndrome 2A	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 151785488.	NM_000747.3(CHRNB1):c.243+19del GRCh37: Chr17:7349448 GRCh38: Chr17:7446129	CHRNB1		Congenital myasthenic syndrome 2A	Benign (Aug 16, 2022)	criteria provided, single submitter
Select item 150739689.	NM_000747.3(CHRNB1):c.1307T>A (p.Val436Asp) GRCh37: Chr17:7359202 GRCh38: Chr17:7455883	CHRNB1	V436D	Congenital myasthenic syndrome 2A	Uncertain significance (Dec 10, 2021)	criteria provided, single submitter
Select item 150679090.	NM_000747.3(CHRNB1):c.56C>A (p.Pro19Gln) GRCh37: Chr17:7348502 GRCh38: Chr17:7445183	CHRNB1	P19Q	Congenital myasthenic syndrome 2A	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 150135891.	NM_000747.3(CHRNB1):c.598G>A (p.Gly200Arg) GRCh37: Chr17:7350957 GRCh38: Chr17:7447638	CHRNB1	G200R	Congenital myasthenic syndrome 2A	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 150011292.	NM_000747.3(CHRNB1):c.386T>C (p.Ile129Thr) GRCh37: Chr17:7350394 GRCh38: Chr17:7447075	CHRNB1	I129T	Congenital myasthenic syndrome 2A	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 149718893.	NM_000747.3(CHRNB1):c.1079T>C (p.Leu360Pro) GRCh37: Chr17:7358637 GRCh38: Chr17:7455318	CHRNB1	L360P	Congenital myasthenic syndrome 2A	Uncertain significance (Jul 28, 2021)	criteria provided, single submitter
Select item 149658094.	NC_000017.10:g.(?_7357606)_(7360052_?)del GRCh37: Chr17:7357606-7360052	CHRNB1		Congenital myasthenic syndrome 2A	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 148979995.	NM_000747.3(CHRNB1):c.530C>T (p.Ser177Leu) GRCh37: Chr17:7350889 GRCh38: Chr17:7447570	CHRNB1	S177L	Congenital myasthenic syndrome 2A	Uncertain significance (Nov 3, 2021)	criteria provided, single submitter
Select item 146940896.	NM_000747.3(CHRNB1):c.1102G>C (p.Asp368His) GRCh37: Chr17:7358660 GRCh38: Chr17:7455341	CHRNB1	D368H	Congenital myasthenic syndrome 2A	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 146848997.	NM_000747.3(CHRNB1):c.243+18G>T GRCh37: Chr17:7349450 GRCh38: Chr17:7446131	CHRNB1		Congenital myasthenic syndrome 2A	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 146798698.	NM_000747.3(CHRNB1):c.1497del (p.Pro501fs) GRCh37: Chr17:7360030 GRCh38: Chr17:7456711	CHRNB1	P501fs	Congenital myasthenic syndrome 2A	Uncertain significance (Feb 24, 2021)	criteria provided, single submitter
Select item 144133699.	NM_000747.3(CHRNB1):c.1396G>A (p.Val466Ile) GRCh37: Chr17:7359932 GRCh38: Chr17:7456613	CHRNB1	V466I	Congenital myasthenic syndrome 2A	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 1437887100.	NM_000747.3(CHRNB1):c.305G>T (p.Arg102Leu) GRCh37: Chr17:7350213 GRCh38: Chr17:7446894	CHRNB1	R102L	Congenital myasthenic syndrome 2A	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter

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