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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 1611556	NM_001385641.1(SAMD11):c.2054-19A>G	LOC129929063, SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2099843	NM_001385641.1(SAMD11):c.2054-16_2054-15del	LOC129929063, SAMD11	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2008686	NM_001385641.1(SAMD11):c.2054-15C>G	LOC129929063, SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1929835	NM_001385641.1(SAMD11):c.2054-15C>T	LOC129929063, SAMD11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1938492	NM_001385641.1(SAMD11):c.2054-14G>A	LOC129929063, SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1633045	NM_001385641.1(SAMD11):c.2054-11C>T	LOC129929063, SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1094940	NM_001385641.1(SAMD11):c.2054-11C>G	LOC129929063, SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 960978	NM_001385641.1(SAMD11):c.2054-3C>T	LOC129929063, SAMD11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1020249	NM_001385641.1(SAMD11):c.2054-1G>T	SAMD11, LOC129929063	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2118083	NM_001385641.1(SAMD11):c.2055C>T (p.Gly685=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1492320	NM_001385641.1(SAMD11):c.2059G>A (p.Val687Ile)	LOC129929063, SAMD11 (V687I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993738	NM_001385641.1(SAMD11):c.2060T>A (p.Val687Glu)	LOC129929063, SAMD11 (V687E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2717525	NM_001385641.1(SAMD11):c.2064G>A (p.Gly688=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1160599	NM_001385641.1(SAMD11):c.2064G>C (p.Gly688=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1507899	NM_001385641.1(SAMD11):c.2065G>A (p.Gly689Arg)	LOC129929063, SAMD11 (G690R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2049598	NM_001385641.1(SAMD11):c.2066G>A (p.Gly689Glu)	LOC129929063, SAMD11 (G526E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1558688	NM_001385641.1(SAMD11):c.2070C>A (p.Leu690=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1014818	NM_001385641.1(SAMD11):c.2072C>T (p.Ser691Phe)	LOC129929063, SAMD11 (S528F +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1151058	NM_001385641.1(SAMD11):c.2074A>G (p.Met692Val)	LOC129929063, SAMD11 (M529V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1358126	NM_001385641.1(SAMD11):c.2075T>G (p.Met692Arg)	LOC129929063, SAMD11 (M692R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1487212	NM_001385641.1(SAMD11):c.2078A>T (p.Asp693Val)	LOC129929063, SAMD11 (D694V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1004565	NM_001385641.1(SAMD11):c.2079T>G (p.Asp693Glu)	LOC129929063, SAMD11 (D530E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1051947	NM_001385641.1(SAMD11):c.2080G>A (p.Gly694Arg)	SAMD11, LOC129929063 (G531R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1486500	NM_001385641.1(SAMD11):c.2081G>A (p.Gly694Glu)	LOC129929063, SAMD11 (G531E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 943368	NM_001385641.1(SAMD11):c.2084AGG[1] (p.Glu696del)	LOC129929063, SAMD11 (E533del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1089742	NM_001385641.1(SAMD11):c.2085G>A (p.Glu695=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1495511	NM_001385641.1(SAMD11):c.2088G>T (p.Glu696Asp)	LOC129929063, SAMD11 (E696D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1097472	NM_001385641.1(SAMD11):c.2091C>T (p.Ala697=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1441150	NM_001385641.1(SAMD11):c.2092C>T (p.Pro698Ser)	LOC129929063, SAMD11 (P699S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2106560	NM_001385641.1(SAMD11):c.2093C>T (p.Pro698Leu)	LOC129929063, SAMD11 (P698L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1084388	NM_001385641.1(SAMD11):c.2097C>T (p.Ala699=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2538497	NM_001385641.1(SAMD11):c.2098C>T (p.Pro700Ser)	LOC129929063, SAMD11 (P537S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1554545	NM_001385641.1(SAMD11):c.2100T>G (p.Pro700=)	SAMD11, LOC129929063	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2122693	NM_001385641.1(SAMD11):c.2105A>T (p.Asp702Val)	LOC129929063, SAMD11 (D539V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967874	NM_001385641.1(SAMD11):c.2107G>A (p.Val703Ile)	LOC129929063, SAMD11 (V540I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1079451	NM_001385641.1(SAMD11):c.2112C>T (p.Thr704=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1011134	NM_001385641.1(SAMD11):c.2113A>G (p.Lys705Glu)	LOC129929063, SAMD11 (K542E +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 941103	NM_001385641.1(SAMD11):c.2114A>C (p.Lys705Thr)	LOC129929063, SAMD11 (K542T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960063	NM_001385641.1(SAMD11):c.2115G>T (p.Lys705Asn)	LOC129929063, SAMD11 (K542N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1959518	NM_001385641.1(SAMD11):c.2121C>A (p.Thr707=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1000318	NM_001385641.1(SAMD11):c.2126A>G (p.Asp709Gly)	LOC129929063, SAMD11 (D546G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1169239	NM_001385641.1(SAMD11):c.2130C>T (p.Asp710=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1084883	NM_001385641.1(SAMD11):c.2133C>T (p.Val711=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994123	NM_001385641.1(SAMD11):c.2139C>T (p.Ser713=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1132918	NM_001385641.1(SAMD11):c.2142C>T (p.Phe714=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1379099	NM_001385641.1(SAMD11):c.2143G>T (p.Val715Leu)	LOC129929063, SAMD11 (V715L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1422736	NM_001385641.1(SAMD11):c.2150dup (p.Leu718fs)	LOC129929063, SAMD11 (L555fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1953248	NM_001385641.1(SAMD11):c.2145G>T (p.Val715=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 961290	NM_001385641.1(SAMD11):c.2145G>A (p.Val715=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1568654	NM_001385641.1(SAMD11):c.2148G>A (p.Gly716=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1935533	NM_001385641.1(SAMD11):c.2150G>A (p.Gly717Asp)	LOC129929063, SAMD11 (G554D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1105443	NM_001385641.1(SAMD11):c.2152C>T (p.Leu718=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1102538	NM_001385641.1(SAMD11):c.2154G>C (p.Leu718=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 956878	NM_001385641.1(SAMD11):c.2156C>T (p.Ser719Phe)	LOC129929063, SAMD11 (S556F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3115507	NM_198317.3(KLHL17):c.16G>C (p.Glu6Gln)	KLHL17, LOC129929064 (E6Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782833	NM_032129.3(PLEKHN1):c.11G>A (p.Ser4Asn)	LOC129929066, PLEKHN1 (S4N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782834	NM_032129.3(PLEKHN1):c.12C>A (p.Ser4Arg)	LOC129929066, PLEKHN1 (S4R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2340688	NM_032129.3(PLEKHN1):c.23C>T (p.Pro8Leu)	LOC129929066, PLEKHN1 (P8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594813	NM_032129.3(PLEKHN1):c.43C>T (p.Arg15Trp)	LOC129929066, PLEKHN1 (R15W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215178	NM_032129.3(PLEKHN1):c.44G>C (p.Arg15Pro)	LOC129929066, PLEKHN1 (R15P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352765	NM_032129.3(PLEKHN1):c.53T>C (p.Phe18Ser)	LOC129929066, PLEKHN1 (F18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068432	NC_000001.11:g.976618_977825del	AGRN, PERM1	Deletion (splice acceptor variant +1 more)	Congenital myasthenic syndrome 8	GPathogenic
Select item 2261120	NM_021170.4(HES4):c.638G>C (p.Gly213Ala)	HES4, LOC129929069 (G213A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360191	NM_021170.4(HES4):c.635C>G (p.Pro212Arg)	HES4, LOC129929069 (P212R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363714	NM_021170.4(HES4):c.629A>T (p.Gln210Leu)	HES4, LOC129929069 (Q178L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360190	NM_021170.4(HES4):c.620C>G (p.Ala207Gly)	HES4, LOC129929069 (A175G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389046	NM_021170.4(HES4):c.614C>T (p.Pro205Leu)	HES4, LOC129929069 (P173L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392662	NM_021170.4(HES4):c.605C>G (p.Pro202Arg)	HES4, LOC129929069 (P170R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284133	NM_021170.4(HES4):c.604C>T (p.Pro202Ser)	HES4, LOC129929069 (P202S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529794	NM_021170.4(HES4):c.599C>T (p.Ala200Val)	HES4, LOC129929069 (A168V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284132	NM_021170.4(HES4):c.598G>C (p.Ala200Pro)	HES4, LOC129929069 (A168P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292882	NM_021170.4(HES4):c.596G>T (p.Arg199Leu)	HES4, LOC129929069 (R199L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366625	NM_021170.4(HES4):c.572C>G (p.Pro191Arg)	HES4, LOC129929069 (P217R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461640	NM_021170.4(HES4):c.559C>T (p.Pro187Ser)	HES4, LOC129929069 (P155S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286486	NM_021170.4(HES4):c.481C>G (p.Pro161Ala)	HES4, LOC129929069 (P129A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467006	NM_021170.4(HES4):c.451G>C (p.Gly151Arg)	HES4, LOC129929069 (G119R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284134	NM_021170.4(HES4):c.436T>G (p.Cys146Gly)	HES4, LOC129929069 (C146G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235539	NM_021170.4(HES4):c.430G>A (p.Ala144Thr)	HES4, LOC129929069 (A144T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481298	NM_021170.4(HES4):c.361G>A (p.Val121Met)	HES4, LOC129929069 (V121M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105504	NM_021170.4(HES4):c.360G>C (p.Glu120Asp)	HES4, LOC129929069 (E88D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387284	NM_021170.4(HES4):c.47G>C (p.Gly16Ala)	HES4, LOC129929070 (G16A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611104	NM_021170.4(HES4):c.43G>A (p.Ala15Thr)	HES4, LOC129929070 (A15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105503	NM_021170.4(HES4):c.35C>T (p.Ser12Leu)	HES4, LOC129929070 (S12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471734	NM_021170.4(HES4):c.14C>G (p.Thr5Arg)	HES4, LOC129929070 (T5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2438920	NM_198576.4(AGRN):c.10C>T (p.Arg4Trp)	AGRN (R4W)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1186825	NM_198576.4(AGRN):c.202-326C>T	AGRN, LOC126805576	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1579240	NM_198576.4(AGRN):c.202-17C>T	AGRN, LOC126805576	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 263166	NM_198576.4(AGRN):c.202-13A>G	AGRN, LOC126805576	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8 +1 more	GBenign
Select item 3003730	NM_198576.4(AGRN):c.202-6C>T	AGRN, LOC126805576	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2150773	NM_198576.4(AGRN):c.225G>A (p.Lys75=)	AGRN, LOC126805576	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 243036	NM_198576.4(AGRN):c.226G>A (p.Gly76Ser)	AGRN, LOC126805576 (G76S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GLikely pathogenic
Select item 1157372	NM_198576.4(AGRN):c.231A>G (p.Lys77=)	AGRN, LOC126805576	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 660579	NM_198576.4(AGRN):c.232G>A (p.Asp78Asn)	AGRN, LOC126805576 (D78N)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2438926	NM_198576.4(AGRN):c.238G>C (p.Val80Leu)	AGRN, LOC126805576 (V80L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1161174	NM_198576.4(AGRN):c.243C>A (p.Ala81=)	AGRN, LOC126805576	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1508290	NM_198576.4(AGRN):c.245G>A (p.Arg82Gln)	AGRN, LOC126805576 (R82Q)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1078900	NM_198576.4(AGRN):c.246G>A (p.Arg82=)	AGRN, LOC126805576	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 128296	NM_198576.4(AGRN):c.261C>T (p.Asp87=)	LOC126805576, AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +2 more	GBenign
Select item 2715230	NM_198576.4(AGRN):c.264C>T (p.Gly88=)	AGRN, LOC126805576	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign

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