Related gene-specific medical variations for Gene (Select 375790) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3097146	NM_198576.4(AGRN):c.644C>T (p.Ser215Phe)	AGRN, LOC129929077 (S110F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068432	NM_001394713.1(PERM1):c.2149+1062_2162del	AGRN, PERM1	Deletion (splice acceptor variant +1 more)	Congenital myasthenic syndrome 8	GPathogenic
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 2994945	NM_198576.4(AGRN):c.5142-11C>T	AGRN, LOC129929078	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2981246	NM_198576.4(AGRN):c.642C>T (p.Ala214=)	AGRN, LOC129929077	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2904057	NM_198576.4(AGRN):c.5142-13C>T	AGRN, LOC129929078	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2898762	NM_198576.4(AGRN):c.717C>G (p.Arg239=)	AGRN, LOC129929077	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2891945	NM_198576.4(AGRN):c.727+19G>C	AGRN, LOC129929077	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2875623	NM_198576.4(AGRN):c.727+16_727+33del	AGRN, LOC129929077	Deletion (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2810851	NM_198576.4(AGRN):c.5142-10T>C	AGRN, LOC129929078	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2742207	NM_198576.4(AGRN):c.463+16C>T	AGRN, LOC126805576	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2733059	NM_198576.4(AGRN):c.723G>A (p.Pro241=)	AGRN, LOC129929077	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2728702	NM_198576.4(AGRN):c.711C>G (p.Leu237=)	AGRN, LOC129929077	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
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
Select item 2690861	NM_198576.4(AGRN):c.3881C>G (p.Thr1294Arg)	AGRN (T1189R +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2690860	NM_198576.4(AGRN):c.1678G>A (p.Val560Met)	AGRN (V455M +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2690859	NM_198576.4(AGRN):c.3584G>A (p.Gly1195Glu)	AGRN (G1090E +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2690858	NM_198576.4(AGRN):c.810C>T (p.Cys270=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2637985	NM_198576.4(AGRN):c.727+6C>T	AGRN, LOC129929077	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2582504	NM_198576.4(AGRN):c.5801T>C (p.Leu1934Pro)	AGRN (L1833P +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2440409	NM_198576.4(AGRN):c.5254-1_5261del	AGRN	Deletion (splice acceptor variant)	Congenital myasthenic syndrome 8	GLikely pathogenic
Select item 2438927	NM_198576.4(AGRN):c.5670C>A (p.Ser1890Arg)	AGRN (S1789R +2 more)	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 2438925	NM_198576.4(AGRN):c.3977C>A (p.Pro1326His)	AGRN (P1221H +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2438924	NM_198576.4(AGRN):c.4757C>T (p.Ala1586Val)	AGRN (A1481V +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2438923	NM_198576.4(AGRN):c.3935C>A (p.Thr1312Asn)	AGRN (T1207N +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2438922	NM_198576.4(AGRN):c.3394A>C (p.Lys1132Gln)	AGRN (K1027Q +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	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 2416561	NM_198576.4(AGRN):c.463+17del	AGRN, LOC126805576	Deletion (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2250992	NM_198576.4(AGRN):c.5192G>A (p.Arg1731Gln)	AGRN, LOC129929078 (R1626Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246177	NM_198576.4(AGRN):c.693G>C (p.Gln231His)	AGRN, LOC129929077 (Q231H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2172757	NM_198576.4(AGRN):c.636G>A (p.Ser212=)	AGRN, LOC129929077	Single nucleotide variant (synonymous 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 2130690	NM_198576.4(AGRN):c.266G>T (p.Gly89Val)	AGRN, LOC126805576 (G89V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2096121	NM_198576.4(AGRN):c.678G>A (p.Ala226=)	AGRN, LOC129929077	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2091331	NM_198576.4(AGRN):c.288C>T (p.Gly96=)	AGRN, LOC126805576	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2069483	NM_198576.4(AGRN):c.697C>G (p.Arg233Gly)	AGRN, LOC129929077 (R233G +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2057516	NM_198576.4(AGRN):c.727+11C>T	AGRN, LOC129929077	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2050251	NM_198576.4(AGRN):c.727+20T>A	AGRN, LOC129929077	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1970181	NM_198576.4(AGRN):c.318G>A (p.Gln106=)	AGRN, LOC126805576	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1966093	NM_198576.4(AGRN):c.5162T>C (p.Leu1721Pro)	AGRN, LOC129929078 (L1721P +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1962715	NM_198576.4(AGRN):c.696C>T (p.Arg232=)	AGRN, LOC129929077	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1957623	NM_198576.4(AGRN):c.359C>T (p.Ala120Val)	AGRN, LOC126805576 (A120V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1923218	NM_198576.4(AGRN):c.463+10G>T	AGRN, LOC126805576	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1917926	NM_198576.4(AGRN):c.421A>C (p.Ile141Leu)	AGRN, LOC126805576 (I141L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1717338	NM_198576.4(AGRN):c.403A>G (p.Asn135Asp)	AGRN, LOC126805576 (N135D)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1658452	NM_198576.4(AGRN):c.5181C>G (p.Val1727=)	AGRN, LOC129929078	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1641736	NM_198576.4(AGRN):c.405C>T (p.Asn135=)	AGRN, LOC126805576	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1637052	NM_198576.4(AGRN):c.285C>T (p.Ser95=)	AGRN, LOC126805576	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1622861	NM_198576.4(AGRN):c.463+19G>A	AGRN, LOC126805576	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GBenign
Select item 1594451	NM_198576.4(AGRN):c.463+18C>T	AGRN, LOC126805576	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	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 1573865	NM_198576.4(AGRN):c.5163G>T (p.Leu1721=)	AGRN, LOC129929078	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1571539	NM_198576.4(AGRN):c.339G>A (p.Arg113=)	AGRN, LOC126805576	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1552276	NM_198576.4(AGRN):c.657C>T (p.Asn219=)	AGRN, LOC129929077	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1551725	NM_198576.4(AGRN):c.5142-19C>T	AGRN, LOC129929078	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1523274	NM_198576.4(AGRN):c.431G>A (p.Arg144Gln)	AGRN, LOC126805576 (R144Q)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1521806	NM_198576.4(AGRN):c.288C>G (p.Gly96=)	LOC126805576, AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1512158	NM_198576.4(AGRN):c.459G>T (p.Val153=)	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 1506805	NM_198576.4(AGRN):c.5197G>A (p.Gly1733Ser)	AGRN, LOC129929078 (G1628S +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1500546	NM_198576.4(AGRN):c.676G>T (p.Ala226Ser)	AGRN, LOC129929077 (A121S +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1476972	NM_198576.4(AGRN):c.5170T>A (p.Trp1724Arg)	AGRN, LOC129929078 (W1619R +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1474267	NM_198576.4(AGRN):c.364C>G (p.Pro122Ala)	AGRN, LOC126805576 (P122A)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1472632	NM_198576.4(AGRN):c.5186T>C (p.Leu1729Pro)	AGRN, LOC129929078 (L1729P +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1443236	NM_198576.4(AGRN):c.269A>G (p.Asn90Ser)	AGRN, LOC126805576 (N90S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1436716	NM_198576.4(AGRN):c.380C>T (p.Ala127Val)	AGRN, LOC126805576 (A127V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1429021	NM_198576.4(AGRN):c.689A>G (p.Gln230Arg)	AGRN, LOC129929077 (Q230R +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1421258	NM_198576.4(AGRN):c.422T>C (p.Ile141Thr)	AGRN, LOC126805576 (I141T)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1407486	NM_198576.4(AGRN):c.5146A>G (p.Arg1716Gly)	AGRN, LOC129929078 (R1611G +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1403981	NM_198576.4(AGRN):c.5147G>A (p.Arg1716Lys)	AGRN, LOC129929078 (R1611K +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1402588	NM_198576.4(AGRN):c.718G>T (p.Gly240Trp)	AGRN, LOC129929077 (G240W +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1364099	NM_198576.4(AGRN):c.350T>C (p.Val117Ala)	AGRN, LOC126805576 (V117A)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1361424	NM_198576.4(AGRN):c.658G>C (p.Glu220Gln)	AGRN, LOC129929077 (E115Q +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1357731	NM_198576.4(AGRN):c.650A>G (p.Tyr217Cys)	AGRN, LOC129929077 (Y217C +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1345953	NM_198576.4(AGRN):c.435C>A (p.Asn145Lys)	AGRN, LOC126805576 (N145K)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1322937	NM_198576.4(AGRN):c.4217_4218del (p.Gln1406fs)	AGRN (Q1301fs +1 more)	Deletion (frameshift variant)	Congenital myasthenic syndrome 8	GPathogenic
Select item 1284256	NM_198576.4(AGRN):c.1385-42G>C	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GPathogenic
Select item 1189698	NM_198576.4(AGRN):c.727+62G>A	LOC129929077, AGRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186825	NM_198576.4(AGRN):c.202-326C>T	AGRN, LOC126805576	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 1155318	NM_198576.4(AGRN):c.426C>T (p.Thr142=)	AGRN, LOC126805576	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1147337	NM_198576.4(AGRN):c.708G>A (p.Leu236=)	AGRN, LOC129929077	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1143224	NM_198576.4(AGRN):c.441G>A (p.Glu147=)	AGRN, LOC126805576	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1142259	NM_198576.4(AGRN):c.711C>T (p.Leu237=)	AGRN, LOC129929077	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1138956	NM_198576.4(AGRN):c.5169C>A (p.Ala1723=)	AGRN, LOC129929078	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1095570	NM_198576.4(AGRN):c.706C>T (p.Leu236=)	AGRN, LOC129929077	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
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 1063517	NM_198576.4(AGRN):c.358G>C (p.Ala120Pro)	AGRN, LOC126805576 (A120P)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1052048	NM_198576.4(AGRN):c.5153C>T (p.Pro1718Leu)	AGRN, LOC129929078 (P1613L +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1044564	NM_198576.4(AGRN):c.5201G>T (p.Arg1734Leu)	AGRN, LOC129929078 (R1734L +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1044551	NM_198576.4(AGRN):c.463+5G>A	LOC126805576, AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1040717	NM_198576.4(AGRN):c.383A>G (p.His128Arg)	AGRN, LOC126805576 (H128R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1040418	NM_198576.4(AGRN):c.700A>G (p.Ile234Val)	AGRN, LOC129929077 (I129V +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1016725	NM_198576.4(AGRN):c.356C>T (p.Pro119Leu)	AGRN, LOC126805576 (P119L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1000760	NM_198576.4(AGRN):c.371T>C (p.Leu124Pro)	LOC126805576, AGRN (L124P)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 1000690	NM_198576.4(AGRN):c.663C>T (p.Cys221=)	AGRN, LOC129929077	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 976541	NM_198576.4(AGRN):c.672G>A (p.Gln224=)	AGRN, LOC129929077	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 970311	NM_198576.4(AGRN):c.667dup (p.Leu223fs)	AGRN, LOC129929077 (L223fs +1 more)	Duplication (frameshift variant)	Congenital myasthenic syndrome 8	GPathogenic/Likely pathogenic

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