ClinVar for MedGen (Select 934661) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24266821.	NC_000002.11:g.(?_108604612)_(108609603_?)del GRCh37: Chr2:108604612-108609603	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 24266812.	NC_000002.11:g.(?_108604612)_(108604809_?)del GRCh37: Chr2:108604612-108604809	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 24210633.	NM_021815.5(SLC5A7):c.896-18G>T GRCh37: Chr2:108624903 GRCh38: Chr2:108008447	SLC5A7		Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 22012954.	NM_021815.5(SLC5A7):c.1203T>A (p.Thr401=) GRCh37: Chr2:108626777 GRCh38: Chr2:108010321	SLC5A7		Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Uncertain significance (Dec 30, 2021)	criteria provided, single submitter
Select item 21995075.	NM_021815.5(SLC5A7):c.448+6G>A GRCh37: Chr2:108609589 GRCh38: Chr2:107993133	SLC5A7		Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 21980456.	NM_021815.5(SLC5A7):c.142G>A (p.Asp48Asn) GRCh37: Chr2:108604753 GRCh38: Chr2:107988297	SLC5A7	D48N	Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Uncertain significance (Dec 30, 2021)	criteria provided, single submitter
Select item 21980257.	NM_021815.5(SLC5A7):c.449-13_449-12del GRCh37: Chr2:108614281-108614282 GRCh38: Chr2:107997825-107997826	SLC5A7		Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 21928628.	NM_021815.5(SLC5A7):c.499A>T (p.Ile167Phe) GRCh37: Chr2:108614344 GRCh38: Chr2:107997888	SLC5A7	I62F, I167F	Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Uncertain significance (Aug 26, 2022)	criteria provided, single submitter
Select item 21926649.	NM_021815.5(SLC5A7):c.448+7A>G GRCh37: Chr2:108609590 GRCh38: Chr2:107993134	SLC5A7		Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Likely benign (May 26, 2022)	criteria provided, single submitter
Select item 218817210.	NM_021815.5(SLC5A7):c.567C>T (p.Val189=) GRCh37: Chr2:108614412 GRCh38: Chr2:107997956	SLC5A7		Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Likely benign (Jul 4, 2022)	criteria provided, single submitter
Select item 218791011.	NM_021815.5(SLC5A7):c.806A>G (p.Tyr269Cys) GRCh37: Chr2:108622569 GRCh38: Chr2:108006113	SLC5A7	Y269C, Y164C, Y22C	Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 218725712.	NM_021815.5(SLC5A7):c.293-17A>T GRCh37: Chr2:108609411 GRCh38: Chr2:107992955	SLC5A7		Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 217893513.	NM_021815.5(SLC5A7):c.285G>C (p.Leu95=) GRCh37: Chr2:108608668 GRCh38: Chr2:107992212	SLC5A7		Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 217424714.	NM_021815.5(SLC5A7):c.1196C>T (p.Thr399Met) GRCh37: Chr2:108626770 GRCh38: Chr2:108010314	SLC5A7	T152M, T294M, T399M	Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20, Inborn genetic diseases	Uncertain significance (May 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216604515.	NM_021815.5(SLC5A7):c.1608T>C (p.Asn536=) GRCh37: Chr2:108627182 GRCh38: Chr2:108010726	SLC5A7		Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Likely benign (Jan 31, 2022)	criteria provided, single submitter
Select item 216158516.	NM_021815.5(SLC5A7):c.449-9_449-8del GRCh37: Chr2:108614284-108614285 GRCh38: Chr2:107997828-107997829	SLC5A7		Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 214828517.	NM_021815.5(SLC5A7):c.1629A>C (p.Ala543=) GRCh37: Chr2:108627203 GRCh38: Chr2:108010747	SLC5A7		Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 213986218.	NM_021815.5(SLC5A7):c.895+17T>C GRCh37: Chr2:108622675 GRCh38: Chr2:108006219	SLC5A7		Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 213879419.	NM_021815.5(SLC5A7):c.1685C>A (p.Ala562Asp) GRCh37: Chr2:108627259 GRCh38: Chr2:108010803	SLC5A7	A457D, A315D, A562D	Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 213450820.	NM_021815.5(SLC5A7):c.1708_*45delinsATCAACCAGAACC (p.Pro570fs) GRCh37: Chr2:108627282-108627362 GRCh38: Chr2:108010826-108010906	SLC5A7	P323fs, P465fs, P570fs	Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 213055521.	NM_021815.5(SLC5A7):c.598T>C (p.Trp200Arg) GRCh37: Chr2:108618353 GRCh38: Chr2:108001897	SLC5A7	W95R, W200R	Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 212177622.	NM_021815.5(SLC5A7):c.146T>C (p.Ile49Thr) GRCh37: Chr2:108604757 GRCh38: Chr2:107988301	SLC5A7	I49T	Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 211868623.	NM_021815.5(SLC5A7):c.377T>C (p.Met126Thr) GRCh37: Chr2:108609512 GRCh38: Chr2:107993056	SLC5A7	M126T, M21T	Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 211477424.	NM_021815.5(SLC5A7):c.1503A>G (p.Leu501=) GRCh37: Chr2:108627077 GRCh38: Chr2:108010621	SLC5A7		Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 210668325.	NM_021815.5(SLC5A7):c.1501C>T (p.Leu501=) GRCh37: Chr2:108627075 GRCh38: Chr2:108010619	SLC5A7		Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 210568426.	NM_021815.5(SLC5A7):c.591A>G (p.Val197=) GRCh37: Chr2:108614436 GRCh38: Chr2:107997980	SLC5A7		Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 210377227.	NM_021815.5(SLC5A7):c.880A>G (p.Ile294Val) GRCh37: Chr2:108622643 GRCh38: Chr2:108006187	SLC5A7	I189V, I47V, I294V	Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Uncertain significance (Feb 27, 2022)	criteria provided, single submitter
Select item 210090628.	NM_021815.5(SLC5A7):c.572A>G (p.Gln191Arg) GRCh37: Chr2:108614417 GRCh38: Chr2:107997961	SLC5A7	Q191R, Q86R	Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 210035829.	NM_021815.5(SLC5A7):c.607G>C (p.Val203Leu) GRCh37: Chr2:108618362 GRCh38: Chr2:108001906	SLC5A7	V203L, V98L	Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 209532530.	NM_021815.5(SLC5A7):c.1137G>T (p.Trp379Cys) GRCh37: Chr2:108626711 GRCh38: Chr2:108010255	SLC5A7	W132C, W274C, W379C	Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 208862831.	NM_021815.5(SLC5A7):c.1204G>A (p.Val402Met) GRCh37: Chr2:108626778 GRCh38: Chr2:108010322	SLC5A7	V402M, V297M, V155M	Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 208199932.	NM_021815.5(SLC5A7):c.963A>G (p.Pro321=) GRCh37: Chr2:108624988 GRCh38: Chr2:108008532	SLC5A7		Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 207304133.	NM_021815.5(SLC5A7):c.449-11G>A GRCh37: Chr2:108614283 GRCh38: Chr2:107997827	SLC5A7		Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 206979434.	NM_021815.5(SLC5A7):c.8T>C (p.Phe3Ser) GRCh37: Chr2:108604619 GRCh38: Chr2:107988163	SLC5A7	F3S	Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 206954035.	NM_021815.5(SLC5A7):c.895+20A>G GRCh37: Chr2:108622678 GRCh38: Chr2:108006222	SLC5A7		Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 206766236.	NM_021815.5(SLC5A7):c.354T>C (p.Phe118=) GRCh37: Chr2:108609489 GRCh38: Chr2:107993033	SLC5A7		Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 206625937.	NM_021815.5(SLC5A7):c.607G>A (p.Val203Ile) GRCh37: Chr2:108618362 GRCh38: Chr2:108001906	SLC5A7	V203I, V98I	Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 206591238.	NM_021815.5(SLC5A7):c.1526C>A (p.Pro509His) GRCh37: Chr2:108627100 GRCh38: Chr2:108010644	SLC5A7	P262H, P509H, P404H	Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Uncertain significance (Jan 8, 2022)	criteria provided, single submitter
Select item 205863439.	NM_021815.5(SLC5A7):c.278T>G (p.Leu93Arg) GRCh37: Chr2:108608661 GRCh38: Chr2:107992205	SLC5A7	L93R	Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 205482940.	NM_021815.5(SLC5A7):c.1672A>T (p.Thr558Ser) GRCh37: Chr2:108627246 GRCh38: Chr2:108010790	SLC5A7	T453S, T311S, T558S	Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 204842341.	NM_021815.5(SLC5A7):c.266T>C (p.Ile89Thr) GRCh37: Chr2:108608649 GRCh38: Chr2:107992193	SLC5A7	I89T	Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 204674542.	NM_021815.5(SLC5A7):c.1550T>C (p.Val517Ala) GRCh37: Chr2:108627124 GRCh38: Chr2:108010668	SLC5A7	V270A, V517A, V412A	Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 204595543.	NM_021815.5(SLC5A7):c.1493C>G (p.Ala498Gly) GRCh37: Chr2:108627067 GRCh38: Chr2:108010611	SLC5A7	A251G, A498G, A393G	Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 204437444.	NM_021815.5(SLC5A7):c.1607A>G (p.Asn536Ser) GRCh37: Chr2:108627181 GRCh38: Chr2:108010725	SLC5A7	N431S, N289S, N536S	Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 200916345.	NM_021815.5(SLC5A7):c.1113+14del GRCh37: Chr2:108625152 GRCh38: Chr2:108008696	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 200707446.	NM_021815.5(SLC5A7):c.1482C>G (p.Ile494Met) GRCh37: Chr2:108627056 GRCh38: Chr2:108010600	SLC5A7	I389M, I494M, I247M	Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 200166247.	NM_021815.5(SLC5A7):c.532G>A (p.Val178Met) GRCh37: Chr2:108614377 GRCh38: Chr2:107997921	SLC5A7	V73M, V178M	Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 199873348.	NM_021815.5(SLC5A7):c.1389T>C (p.Pro463=) GRCh37: Chr2:108626963 GRCh38: Chr2:108010507	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 198463749.	NM_021815.5(SLC5A7):c.1649G>A (p.Ser550Asn) GRCh37: Chr2:108627223 GRCh38: Chr2:108010767	SLC5A7	S445N, S303N, S550N	Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 198229150.	NM_021815.5(SLC5A7):c.1023T>C (p.Ser341=) GRCh37: Chr2:108625048 GRCh38: Chr2:108008592	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 198106551.	NM_021815.5(SLC5A7):c.46C>A (p.Leu16Ile) GRCh37: Chr2:108604657 GRCh38: Chr2:107988201	SLC5A7	L16I	Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 197348852.	NM_021815.5(SLC5A7):c.594G>T (p.Gly198=) GRCh37: Chr2:108614439 GRCh38: Chr2:107997983	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 196472853.	NM_021815.5(SLC5A7):c.1114-10T>C GRCh37: Chr2:108626678 GRCh38: Chr2:108010222	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 196355754.	NM_021815.5(SLC5A7):c.896-13T>C GRCh37: Chr2:108624908 GRCh38: Chr2:108008452	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 196337255.	NM_021815.5(SLC5A7):c.742-15G>A GRCh37: Chr2:108622490 GRCh38: Chr2:108006034	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 195654056.	NM_021815.5(SLC5A7):c.466A>G (p.Ile156Val) GRCh37: Chr2:108614311 GRCh38: Chr2:107997855	SLC5A7	I156V, I51V	Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 194453557.	NM_021815.5(SLC5A7):c.741+8A>C GRCh37: Chr2:108618504 GRCh38: Chr2:108002048	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 193867958.	NM_021815.5(SLC5A7):c.406A>G (p.Met136Val) GRCh37: Chr2:108609541 GRCh38: Chr2:107993085	SLC5A7	M136V, M31V	Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Uncertain significance (Jan 25, 2022)	criteria provided, single submitter
Select item 192978659.	NM_021815.5(SLC5A7):c.729T>G (p.Ser243Arg) GRCh37: Chr2:108618484 GRCh38: Chr2:108002028	SLC5A7	S138R, S243R	Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 192139660.	NM_021815.5(SLC5A7):c.1469C>T (p.Thr490Ile) GRCh37: Chr2:108627043 GRCh38: Chr2:108010587	SLC5A7	T385I, T490I, T243I	Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 191925261.	NM_021815.5(SLC5A7):c.741+11C>T GRCh37: Chr2:108618507 GRCh38: Chr2:108002051	SLC5A7		Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 189726862.	NM_021815.5(SLC5A7):c.577T>G (p.Phe193Val) GRCh37: Chr2:108614422 GRCh38: Chr2:107997966	SLC5A7	F193V, F88V	Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 181025563.	NM_021815.5(SLC5A7):c.320G>A (p.Arg107His) GRCh37: Chr2:108609455 GRCh38: Chr2:107992999	SLC5A7	R107H, R2H	Congenital myasthenic syndrome 20, not provided	Conflicting interpretations of pathogenicity (Mar 23, 2023)	criteria provided, conflicting interpretations
Select item 178923464.	NM_021815.5(SLC5A7):c.229G>A (p.Val77Ile) GRCh37: Chr2:108608612 GRCh38: Chr2:107992156	SLC5A7	V77I	Inborn genetic diseases, Neuronopathy, distal hereditary motor, type 7A, Congenital myasthenic syndrome 20	Uncertain significance (Sep 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175886765.	NM_021815.5(SLC5A7):c.742A>T (p.Met248Leu) GRCh37: Chr2:108622505 GRCh38: Chr2:108006049	SLC5A7	M1L, M248L, M143L	Inborn genetic diseases, Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Uncertain significance (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175861066.	NM_021815.5(SLC5A7):c.737T>C (p.Leu246Ser) GRCh37: Chr2:108618492 GRCh38: Chr2:108002036	SLC5A7	L246S, L141S	Inborn genetic diseases, Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Uncertain significance (Aug 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172122367.	NM_021815.5(SLC5A7):c.1115C>A (p.Ala372Asp) GRCh37: Chr2:108626689 GRCh38: Chr2:108010233	SLC5A7	A125D, A267D, A372D	Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 171977568.	NM_021815.5(SLC5A7):c.649T>A (p.Phe217Ile) GRCh37: Chr2:108618404 GRCh38: Chr2:108001948	SLC5A7	F112I, F217I	Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 171775269.	NM_021815.5(SLC5A7):c.1415T>G (p.Ile472Arg) GRCh37: Chr2:108626989 GRCh38: Chr2:108010533	SLC5A7	I225R, I367R, I472R	Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 170180470.	NM_021815.5(SLC5A7):c.1293C>G (p.Asn431Lys) GRCh37: Chr2:108626867 GRCh38: Chr2:108010411	SLC5A7	N184K, N326K, N431K	Congenital myasthenic syndrome 20	Likely pathogenic	no assertion criteria provided
Select item 166980371.	NM_021815.5(SLC5A7):c.597+14C>A GRCh37: Chr2:108614456 GRCh38: Chr2:107998000	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 166959572.	NM_021815.5(SLC5A7):c.180T>C (p.Ala60=) GRCh37: Chr2:108608563 GRCh38: Chr2:107992107	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 166858673.	NM_021815.5(SLC5A7):c.179-20C>T GRCh37: Chr2:108608542 GRCh38: Chr2:107992086	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Dec 20, 2021)	criteria provided, single submitter
Select item 166808274.	NM_021815.5(SLC5A7):c.178+18C>T GRCh37: Chr2:108604807 GRCh38: Chr2:107988351	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 166107375.	NM_021815.5(SLC5A7):c.448+9C>A GRCh37: Chr2:108609592 GRCh38: Chr2:107993136	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 165870676.	NM_021815.5(SLC5A7):c.178+17C>A GRCh37: Chr2:108604806 GRCh38: Chr2:107988350	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Oct 7, 2021)	criteria provided, single submitter
Select item 165743477.	NM_021815.5(SLC5A7):c.321T>C (p.Arg107=) GRCh37: Chr2:108609456 GRCh38: Chr2:107993000	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Oct 8, 2021)	criteria provided, single submitter
Select item 165701278.	NM_021815.5(SLC5A7):c.759A>T (p.Pro253=) GRCh37: Chr2:108622522 GRCh38: Chr2:108006066	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (May 31, 2021)	criteria provided, single submitter
Select item 165417079.	NM_021815.5(SLC5A7):c.448+9C>T GRCh37: Chr2:108609592 GRCh38: Chr2:107993136	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 165204280.	NM_021815.5(SLC5A7):c.598-7G>A GRCh37: Chr2:108618346 GRCh38: Chr2:108001890	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Nov 15, 2020)	criteria provided, single submitter
Select item 164765081.	NM_021815.5(SLC5A7):c.1302G>C (p.Gly434=) GRCh37: Chr2:108626876 GRCh38: Chr2:108010420	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Dec 1, 2021)	criteria provided, single submitter
Select item 164682682.	NM_021815.5(SLC5A7):c.540G>A (p.Gly180=) GRCh37: Chr2:108614385 GRCh38: Chr2:107997929	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Apr 8, 2021)	criteria provided, single submitter
Select item 164338183.	NM_021815.5(SLC5A7):c.448+12C>T GRCh37: Chr2:108609595 GRCh38: Chr2:107993139	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 164176384.	NM_021815.5(SLC5A7):c.742-10T>C GRCh37: Chr2:108622495 GRCh38: Chr2:108006039	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (May 11, 2021)	criteria provided, single submitter
Select item 163868785.	NM_021815.5(SLC5A7):c.293-18C>G GRCh37: Chr2:108609410 GRCh38: Chr2:107992954	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 162122386.	NM_021815.5(SLC5A7):c.741+12T>C GRCh37: Chr2:108618508 GRCh38: Chr2:108002052	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 162093287.	NM_021815.5(SLC5A7):c.741+11C>G GRCh37: Chr2:108618507 GRCh38: Chr2:108002051	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 161827988.	NM_021815.5(SLC5A7):c.351G>C (p.Pro117=) GRCh37: Chr2:108609486 GRCh38: Chr2:107993030	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Nov 21, 2021)	criteria provided, single submitter
Select item 161390989.	NM_021815.5(SLC5A7):c.292+11G>C GRCh37: Chr2:108608686 GRCh38: Chr2:107992230	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Sep 27, 2021)	criteria provided, single submitter
Select item 160930690.	NM_021815.5(SLC5A7):c.471C>T (p.Ile157=) GRCh37: Chr2:108614316 GRCh38: Chr2:107997860	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 160874791.	NM_021815.5(SLC5A7):c.449-14C>T GRCh37: Chr2:108614280 GRCh38: Chr2:107997824	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Jun 14, 2021)	criteria provided, single submitter
Select item 160244792.	NM_021815.5(SLC5A7):c.1465T>C (p.Leu489=) GRCh37: Chr2:108627039 GRCh38: Chr2:108010583	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Sep 2, 2021)	criteria provided, single submitter
Select item 159662793.	NM_021815.5(SLC5A7):c.742-5C>T GRCh37: Chr2:108622500 GRCh38: Chr2:108006044	SLC5A7		Inborn genetic diseases, Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Conflicting interpretations of pathogenicity (Jul 12, 2022)	criteria provided, conflicting interpretations
Select item 159510394.	NM_021815.5(SLC5A7):c.84A>G (p.Arg28=) GRCh37: Chr2:108604695 GRCh38: Chr2:107988239	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Nov 4, 2022)	criteria provided, single submitter
Select item 159154195.	NM_021815.5(SLC5A7):c.597+14C>T GRCh37: Chr2:108614456 GRCh38: Chr2:107998000	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 159040196.	NM_021815.5(SLC5A7):c.351G>A (p.Pro117=) GRCh37: Chr2:108609486 GRCh38: Chr2:107993030	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 158774797.	NM_021815.5(SLC5A7):c.292+11G>A GRCh37: Chr2:108608686 GRCh38: Chr2:107992230	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Oct 28, 2021)	criteria provided, single submitter
Select item 158151498.	NM_021815.5(SLC5A7):c.1113+13del GRCh37: Chr2:108625149 GRCh38: Chr2:108008693	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Sep 3, 2021)	criteria provided, single submitter
Select item 158151199.	NM_021815.5(SLC5A7):c.1659C>T (p.Leu553=) GRCh37: Chr2:108627233 GRCh38: Chr2:108010777	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Dec 12, 2021)	criteria provided, single submitter
Select item 1579824100.	NM_021815.5(SLC5A7):c.742-19C>A GRCh37: Chr2:108622486 GRCh38: Chr2:108006030	SLC5A7		Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A	Likely benign (Oct 27, 2022)	criteria provided, single submitter

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