"Ambry Genetics"[submitter] AND "PREPL"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 575325	NM_001171613.2(PREPL):c.1850T>C (p.Leu617Pro)	SLC3A1, PREPL (L706P +3 more)	Single nucleotide variant (missense variant +1 more)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance
Select item 1010015	NM_001171613.2(PREPL):c.1849C>G (p.Leu617Val)	PREPL, SLC3A1 (L617V +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance
Select item 861847	NM_001171613.2(PREPL):c.1844A>G (p.Lys615Arg)	PREPL, SLC3A1 (K642R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 947865	NM_001171613.2(PREPL):c.1839A>C (p.Gln613His)	PREPL, SLC3A1 (Q640H +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance
Select item 570518	NM_001171613.2(PREPL):c.1828A>T (p.Ile610Phe)	PREPL, SLC3A1 (I699F +3 more)	Single nucleotide variant (missense variant +1 more)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance
Select item 1036670	NM_001171613.2(PREPL):c.1783A>T (p.Ile595Phe)	PREPL, SLC3A1 (I618F +3 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance
Select item 2328799	NM_001171613.2(PREPL):c.1777C>G (p.Leu593Val)	PREPL, SLC3A1 (L593V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 848829	NM_001171613.2(PREPL):c.1760A>G (p.Gln587Arg)	PREPL, SLC3A1 (Q587R +3 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance
Select item 2286894	NM_001171613.2(PREPL):c.1693G>T (p.Val565Leu)	PREPL (V588L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2063608	NM_001171613.2(PREPL):c.1688G>A (p.Gly563Glu)	PREPL (G590E +3 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance
Select item 646329	NM_001171613.2(PREPL):c.1685A>T (p.Lys562Ile)	PREPL (K651I +3 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance
Select item 2354683	NM_001171613.2(PREPL):c.1652C>T (p.Thr551Met)	PREPL (T574M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 544545	NM_001171613.2(PREPL):c.1598G>T (p.Arg533Leu)	PREPL (R622L +3 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22 +1 more	GConflicting classifications of pathogenicity
Select item 2486374	NM_001171613.2(PREPL):c.1579C>T (p.His527Tyr)	PREPL (H554Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229618	NM_001171613.2(PREPL):c.1519A>G (p.Thr507Ala)	PREPL (T507A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 478310	NM_001171613.2(PREPL):c.1510A>T (p.Met504Leu)	PREPL (M593L +3 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance
Select item 2511444	NM_001171613.2(PREPL):c.1483C>T (p.Pro495Ser)	PREPL (P495S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 548500	NM_001171613.2(PREPL):c.1420G>A (p.Val474Met)	PREPL (V563M +3 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance
Select item 2038469	NM_001171613.2(PREPL):c.1293C>A (p.His431Gln)	PREPL (H458Q +3 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance
Select item 1034515	NM_001171613.2(PREPL):c.1289G>C (p.Trp430Ser)	PREPL (W453S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 640964	NM_001171613.2(PREPL):c.1169A>G (p.Tyr390Cys)	PREPL (Y413C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2538994	NM_001171613.2(PREPL):c.1159G>A (p.Val387Ile)	PREPL (V387I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance
Select item 663587	NM_001171613.2(PREPL):c.1058G>A (p.Arg353His)	PREPL (R353H +2 more)	Single nucleotide variant (missense variant +1 more)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance
Select item 2315780	NM_001171613.2(PREPL):c.1031A>T (p.His344Leu)	PREPL (H371L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 520751	NM_001171613.2(PREPL):c.968T>G (p.Ile323Arg)	PREPL (I412R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1492712	NM_001171613.2(PREPL):c.908G>A (p.Gly303Glu)	PREPL (G303E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2282952	NM_001171613.2(PREPL):c.893C>T (p.Pro298Leu)	PREPL (P298L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1381888	NM_001171613.2(PREPL):c.877C>T (p.Arg293Trp)	PREPL (R382W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1050574	NM_001171613.2(PREPL):c.818T>C (p.Phe273Ser)	PREPL (F273S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1398273	NM_001171613.2(PREPL):c.604C>T (p.Leu202Phe)	PREPL (L291F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 566429	NM_001171613.2(PREPL):c.562G>A (p.Val188Met)	PREPL (V277M +1 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance
Select item 853182	NM_001171613.2(PREPL):c.521G>T (p.Arg174Leu)	PREPL (R174L +1 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance
Select item 664239	NM_001171613.2(PREPL):c.521G>C (p.Arg174Pro)	PREPL (R174P +1 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance
Select item 2616535	NM_001171613.2(PREPL):c.520C>T (p.Arg174Cys)	PREPL (R174C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 641182	NM_001171613.2(PREPL):c.508A>G (p.Thr170Ala)	PREPL (T259A +1 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance
Select item 544537	NM_001171613.2(PREPL):c.450A>C (p.Lys150Asn)	PREPL (K239N +1 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance
Select item 2253383	NM_001171613.2(PREPL):c.376G>A (p.Asp126Asn)	PREPL (D215N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237342	NM_001171613.2(PREPL):c.349+5G>A	PREPL	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2604252	NM_001171613.2(PREPL):c.332C>T (p.Pro111Leu)	PREPL (P200L +1 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance
Select item 2470299	NM_001171613.2(PREPL):c.332C>A (p.Pro111Gln)	PREPL (P200Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526687	NM_001171613.2(PREPL):c.145G>A (p.Asp49Asn)	PREPL (D138N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2031557	NM_001171613.2(PREPL):c.125G>A (p.Arg42His)	PREPL (R131H +1 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance
Select item 2266300	NM_001171613.2(PREPL):c.116G>T (p.Cys39Phe)	PREPL (C128F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262573	NM_001171613.2(PREPL):c.-14C>G	PREPL (P85R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608849	NM_001171613.2(PREPL):c.-23A>T	PREPL (N82I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2084481	NM_001171613.2(PREPL):c.-29A>G	PREPL (Q80R)	Single nucleotide variant (missense variant +1 more)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance
Select item 578461	NM_001171613.2(PREPL):c.-49+1881A>G	PREPL (K73E)	Single nucleotide variant (missense variant +1 more)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance
Select item 1910732	NM_001171613.2(PREPL):c.-49+1840C>T	PREPL (S59L)	Single nucleotide variant (missense variant +1 more)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance
Select item 2219960	NM_001171613.2(PREPL):c.-49+1720T>A	PREPL (L19H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 957622	NM_001171613.2(PREPL):c.-49+1678C>G	PREPL (T5S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

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Items: 51