ClinVar for MedGen (Select 1393545) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064482	NM_001171613.2(PREPL):c.71_72insCT (p.Glu25fs)	PREPL (E114fs +1 more)	Insertion (frameshift variant)	Myasthenic syndrome, congenital, 22	GPathogenic
Select item 3023938	NM_001171613.2(PREPL):c.350-13T>G	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 3018509	NM_001171613.2(PREPL):c.102C>T (p.Tyr34=)	PREPL	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 3018273	NM_001171613.2(PREPL):c.1480-15T>C	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 3017745	NM_001171613.2(PREPL):c.1140G>A (p.Leu380=)	PREPL	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 3016204	NM_001171613.2(PREPL):c.1233T>C (p.Asp411=)	PREPL	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 3016063	NM_001171613.2(PREPL):c.889-17C>G	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 3011846	NM_001171613.2(PREPL):c.216C>T (p.Ile72=)	PREPL	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2974818	NM_001171613.2(PREPL):c.1262+19C>T	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2973810	NM_001171613.2(PREPL):c.1653G>A (p.Thr551=)	PREPL	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2972708	NM_001171613.2(PREPL):c.143-19C>A	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2968843	NM_001171613.2(PREPL):c.135T>C (p.Asp45=)	PREPL	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 22	GBenign
Select item 2955930	NM_001171613.2(PREPL):c.703-6A>G	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2916603	NM_001171613.2(PREPL):c.-49+1806C>T	PREPL	Single nucleotide variant (synonymous variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2915145	NM_001171613.2(PREPL):c.175T>C (p.Leu59=)	PREPL	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2912878	NM_001171613.2(PREPL):c.1071A>G (p.Leu357=)	PREPL	Single nucleotide variant (synonymous variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2909611	NM_001171613.2(PREPL):c.888+8T>C	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2909593	NM_001171613.2(PREPL):c.1086+19A>G	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2908445	NM_001171613.2(PREPL):c.75+10C>T	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2906542	NM_001171613.2(PREPL):c.486-10C>T	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2902122	NM_001171613.2(PREPL):c.702+19T>A	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2900162	NM_001171613.2(PREPL):c.579C>T (p.Gly193=)	PREPL	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2898532	NM_001171613.2(PREPL):c.126T>C (p.Arg42=)	PREPL	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2898225	NM_001171613.2(PREPL):c.774A>C (p.Thr258=)	PREPL	Single nucleotide variant (synonymous variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2895679	NM_001171613.2(PREPL):c.1305C>T (p.Arg435=)	PREPL	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2893588	NM_001171613.2(PREPL):c.143-16A>C	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2888785	NM_001171613.2(PREPL):c.1479+20A>G	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2884112	NM_001171613.2(PREPL):c.350-16C>G	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2883731	NM_001171613.2(PREPL):c.117C>T (p.Cys39=)	PREPL	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2882886	NM_001171613.2(PREPL):c.888+13T>C	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2867688	NM_001171613.2(PREPL):c.1214G>A (p.Arg405Lys)	PREPL (R405K +3 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 2867289	NM_001171613.2(PREPL):c.1863T>C (p.Leu621=)	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2865382	NM_001171613.2(PREPL):c.300C>T (p.Leu100=)	PREPL	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2859839	NM_001171613.2(PREPL):c.-49+1763C>T	PREPL	Single nucleotide variant (synonymous variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2848934	NM_001171613.2(PREPL):c.1636C>A (p.Pro546Thr)	PREPL (P569T +3 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 2848669	NM_001171613.2(PREPL):c.143-3C>A	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 2843274	NM_001171613.2(PREPL):c.1295C>T (p.Ala432Val)	PREPL (A521V +3 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 2840828	NM_001171613.2(PREPL):c.1803T>C (p.His601=)	PREPL, SLC3A1	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2837554	NM_001171613.2(PREPL):c.867T>C (p.Asp289=)	PREPL	Single nucleotide variant (synonymous variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2828718	NM_001171613.2(PREPL):c.1672C>A (p.Arg558=)	PREPL	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2825759	NM_001171613.2(PREPL):c.1827+8A>T	PREPL, SLC3A1	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2824773	NM_001171613.2(PREPL):c.888+12T>G	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2816038	NM_001171613.2(PREPL):c.350-1G>T	PREPL	Single nucleotide variant (splice acceptor variant)	Myasthenic syndrome, congenital, 22	GLikely pathogenic
Select item 2805105	NM_001171613.2(PREPL):c.705A>C (p.Leu235=)	PREPL	Single nucleotide variant (synonymous variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2793680	NM_001171613.2(PREPL):c.1908G>C (p.Leu636=)	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2792645	NM_001171613.2(PREPL):c.1250_1251del (p.Tyr417fs)	PREPL (Y444fs +3 more)	Deletion (frameshift variant)	Myasthenic syndrome, congenital, 22	GPathogenic
Select item 2787886	NM_001171613.2(PREPL):c.1754-7C>T	PREPL, SLC3A1	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2780404	NM_001171613.2(PREPL):c.27A>G (p.Thr9=)	PREPL	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2780376	NM_001171613.2(PREPL):c.485+9A>G	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2779439	NM_001171613.2(PREPL):c.709A>C (p.Arg237=)	PREPL	Single nucleotide variant (synonymous variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2759387	NM_001171613.2(PREPL):c.432C>T (p.Ala144=)	PREPL	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2758931	NM_001171613.2(PREPL):c.1479+9G>A	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2756439	NM_001171613.2(PREPL):c.1480-7T>C	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2751025	NM_001171613.2(PREPL):c.326C>G (p.Ser109Cys)	PREPL (S109C +1 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 2742679	NM_001171613.2(PREPL):c.889-20T>C	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2740859	NM_001171613.2(PREPL):c.780G>C (p.Val260=)	PREPL	Single nucleotide variant (synonymous variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2740808	NM_001171613.2(PREPL):c.1237T>C (p.Trp413Arg)	PREPL (W440R +3 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 2736749	NM_001171613.2(PREPL):c.765G>A (p.Lys255=)	PREPL	Single nucleotide variant (synonymous variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2732541	NM_001171613.2(PREPL):c.525C>T (p.Phe175=)	PREPL	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2730921	NM_001171613.2(PREPL):c.-49+1826dup	PREPL (K55*)	Duplication (nonsense +1 more)	Myasthenic syndrome, congenital, 22	GPathogenic
Select item 2729319	NM_001171613.2(PREPL):c.1828-14T>C	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2724715	NM_001171613.2(PREPL):c.725C>G (p.Thr242Ser)	PREPL (T242S +1 more)	Single nucleotide variant (missense variant +1 more)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 2721130	NM_001171613.2(PREPL):c.76-14G>A	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2720760	NM_001171613.2(PREPL):c.229G>C (p.Asp77His)	PREPL (D166H +1 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 2719752	NM_001171613.2(PREPL):c.486-19T>A	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2714838	NM_001171613.2(PREPL):c.1419G>A (p.Gly473=)	PREPL	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2697384	NM_001171613.2(PREPL):c.1113T>G (p.Val371=)	PREPL	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2689823	NM_001171613.2(PREPL):c.1629+30C>T	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 2604252	NM_001171613.2(PREPL):c.332C>T (p.Pro111Leu)	PREPL (P200L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2435238	NM_001171613.2(PREPL):c.1703C>T (p.Thr568Ile)	PREPL (T568I +3 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 2425479	NC_000002.11:g.(?_44547318)_(44586854_?)dup	PREPL, SLC3A1	Duplication	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 2425477	NC_000002.11:g.(?_44573387)_(44586854_?)dup	PREPL	Duplication	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 2425476	NC_000002.11:g.(?_44565470)_(44566522_?)del	PREPL	Deletion	Myasthenic syndrome, congenital, 22	GPathogenic
Select item 2425474	NC_000002.11:g.(?_44547318)_(44569711_?)del	SLC3A1, PREPL	Deletion	Myasthenic syndrome, congenital, 22	GPathogenic
Select item 2425473	NC_000002.11:g.(?_44565470)_(44586854_?)del	PREPL	Deletion	Myasthenic syndrome, congenital, 22	GPathogenic
Select item 2421370	NM_001171613.2(PREPL):c.1360C>T (p.His454Tyr)	PREPL (H454Y +3 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 2421303	NM_001171613.2(PREPL):c.-49+1839T>A	PREPL (S59T)	Single nucleotide variant (missense variant +1 more)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 2420913	NM_001171613.2(PREPL):c.159T>C (p.Tyr53=)	PREPL	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2210618	NM_001171613.2(PREPL):c.1067G>A (p.Arg356His)	PREPL (R445H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2203046	NM_001171613.2(PREPL):c.1784T>C (p.Ile595Thr)	SLC3A1, PREPL (I618T +3 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 2201518	NM_001171613.2(PREPL):c.75+9T>C	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2200526	NM_001171613.2(PREPL):c.1799A>G (p.Asn600Ser)	PREPL, SLC3A1 (N600S +3 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 2199130	NM_001171613.2(PREPL):c.1827+16C>T	PREPL, SLC3A1	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2198893	NM_001171613.2(PREPL):c.505C>T (p.Leu169Phe)	PREPL (L258F +1 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 2198349	NM_001171613.2(PREPL):c.623A>G (p.His208Arg)	PREPL (H297R +1 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 2198001	NM_001171613.2(PREPL):c.889-11T>A	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 2196962	NM_001171613.2(PREPL):c.249C>T (p.Ala83=)	PREPL	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2196474	NM_001171613.2(PREPL):c.-49+1761T>G	PREPL (F33V)	Single nucleotide variant (missense variant +1 more)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 2194361	NM_001171613.2(PREPL):c.1087-20T>C	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2191801	NM_001171613.2(PREPL):c.1629+11A>T	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2191589	NM_001171613.2(PREPL):c.1630-16A>G	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2186311	NM_001171613.2(PREPL):c.1515C>T (p.Asp505=)	PREPL	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2184305	NM_001171613.2(PREPL):c.76-17C>T	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2180817	NM_001171613.2(PREPL):c.816A>G (p.Leu272=)	PREPL	Single nucleotide variant (intron variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2180526	NM_001171613.2(PREPL):c.1753+2T>C	PREPL	Single nucleotide variant (splice donor variant)	Myasthenic syndrome, congenital, 22	GLikely pathogenic
Select item 2171329	NM_001171613.2(PREPL):c.409C>T (p.Arg137Cys)	PREPL (R137C +1 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 2165156	NM_001171613.2(PREPL):c.304G>C (p.Asp102His)	PREPL (D102H +1 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 2164860	NM_001171613.2(PREPL):c.-49+1867G>A	PREPL (R68Q)	Single nucleotide variant (missense variant +1 more)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 2162451	NM_001171613.2(PREPL):c.825G>A (p.Lys275=)	PREPL	Single nucleotide variant (synonymous variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2162309	NM_001171613.2(PREPL):c.350-19T>C	PREPL	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign

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