ClinVar for MedGen (Select 815069) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341337	NM_198576.4(AGRN):c.1555G>T (p.Ala519Ser)	AGRN (A414S +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 3338062	NM_198576.4(AGRN):c.6057_6060delinsT (p.Val2022del)	AGRN (V1921del +2 more)	Indel (inframe_deletion)	Congenital myasthenic syndrome 8	GLikely pathogenic
Select item 3256787	NM_198576.4(AGRN):c.5302G>A (p.Ala1768Thr)	AGRN (A1667T +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GLikely pathogenic
Select item 3255595	NM_198576.4(AGRN):c.369C>A (p.Tyr123Ter)	AGRN, LOC126805576 (Y123*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 8	GPathogenic
Select item 3254666	NM_198576.4(AGRN):c.4002C>G (p.Asp1334Glu)	AGRN (D1229E +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 3247826	NC_000001.10:g.(?_970637)_(990361_?)dup	AGRN	Duplication	Congenital myasthenic syndrome 8	GUncertain significance
Select item 3247825	NC_000001.10:g.(?_981520)_(990361_?)dup	AGRN	Duplication	Congenital myasthenic syndrome 8	GUncertain significance
Select item 3247824	NC_000001.10:g.(?_976533)_(990361_?)del	AGRN	Deletion	Congenital myasthenic syndrome 8	GPathogenic
Select item 3242115	NM_198576.4(AGRN):c.5132C>A (p.Ala1711Glu)	AGRN (A1606E +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	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 3021898	NM_198576.4(AGRN):c.5876+13C>T	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 3020552	NM_198576.4(AGRN):c.2475C>T (p.Arg825=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 3018609	NM_198576.4(AGRN):c.4248G>A (p.Arg1416=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 3017440	NM_198576.4(AGRN):c.2284G>T (p.Ala762Ser)	AGRN (A762S +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 3017082	NM_198576.4(AGRN):c.2199G>A (p.Lys733=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 3017080	NM_198576.4(AGRN):c.4734C>A (p.Pro1578=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 3016052	NM_198576.4(AGRN):c.2537-13A>G	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 3014589	NM_198576.4(AGRN):c.1060G>A (p.Ala354Thr)	AGRN (A249T +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 3013411	NM_198576.4(AGRN):c.3751+10A>G	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 3010684	NM_198576.4(AGRN):c.893_903del (p.Leu298fs)	AGRN (L193fs +1 more)	Deletion (frameshift variant)	Congenital myasthenic syndrome 8	GPathogenic
Select item 3010315	NM_198576.4(AGRN):c.36G>A (p.Pro12=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 3009992	NM_198576.4(AGRN):c.5337C>G (p.Ala1779=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 3009356	NM_198576.4(AGRN):c.1385-19G>A	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 3007403	NM_198576.4(AGRN):c.3816A>C (p.Arg1272Ser)	AGRN (R1167S +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 3007402	NM_198576.4(AGRN):c.2295C>G (p.His765Gln)	AGRN (H765Q +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 3006194	NM_198576.4(AGRN):c.6081G>A (p.Leu2027=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 3004287	NM_198576.4(AGRN):c.918G>A (p.Gln306=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
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 2995100	NM_198576.4(AGRN):c.2681-18C>T	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2995040	NM_198576.4(AGRN):c.4590G>A (p.Leu1530=)	AGRN	Single nucleotide variant (synonymous 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 2991394	NM_198576.4(AGRN):c.5331T>C (p.Ala1777=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2990521	NM_198576.4(AGRN):c.5119G>A (p.Gly1707Ser)	AGRN (G1602S +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2988890	NM_198576.4(AGRN):c.5141+8G>A	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2988061	NM_198576.4(AGRN):c.3751+17G>C	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2987357	NM_198576.4(AGRN):c.3621C>T (p.His1207=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2984696	NM_198576.4(AGRN):c.512-11A>C	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2983360	NM_198576.4(AGRN):c.2655C>G (p.Ala885=)	AGRN	Single nucleotide variant (synonymous 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 2980258	NM_198576.4(AGRN):c.4644C>G (p.Cys1548Trp)	AGRN (C1443W +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2979308	NM_198576.4(AGRN):c.4987G>A (p.Ala1663Thr)	AGRN (A1558T +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2978521	NM_198576.4(AGRN):c.1190A>G (p.Glu397Gly)	AGRN (E397G +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2977162	NM_198576.4(AGRN):c.5382A>G (p.Gly1794=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2970137	NM_198576.4(AGRN):c.201+18C>G	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2968151	NM_198576.4(AGRN):c.1245C>G (p.Ser415=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2965992	NM_198576.4(AGRN):c.32G>A (p.Arg11Gln)	AGRN (R11Q)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2965771	NM_198576.4(AGRN):c.5943C>T (p.Gly1981=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2962753	NM_198576.4(AGRN):c.5541C>T (p.Phe1847=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2958706	NM_198576.4(AGRN):c.4971C>T (p.Asp1657=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2957860	NM_198576.4(AGRN):c.972C>T (p.Leu324=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2920441	NM_198576.4(AGRN):c.4803G>A (p.Ala1601=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2917973	NM_198576.4(AGRN):c.2794A>G (p.Asn932Asp)	AGRN (N827D +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2915907	NM_198576.4(AGRN):c.1294G>A (p.Asp432Asn)	AGRN (D327N +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2912340	NM_198576.4(AGRN):c.3229del (p.Ala1077fs)	AGRN (A1077fs +1 more)	Deletion (frameshift variant)	Congenital myasthenic syndrome 8	GPathogenic
Select item 2910512	NM_198576.4(AGRN):c.2922T>C (p.Ala974=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2908457	NM_198576.4(AGRN):c.792C>T (p.Asp264=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2907961	NM_198576.4(AGRN):c.1644C>T (p.Ala548=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2907265	NM_198576.4(AGRN):c.5254-12G>A	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2905034	NM_198576.4(AGRN):c.2169C>T (p.Val723=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2904602	NM_198576.4(AGRN):c.953-12C>T	AGRN	Single nucleotide variant (intron 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 2903240	NM_198576.4(AGRN):c.5254-10G>A	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2902160	NM_198576.4(AGRN):c.4089C>T (p.Gly1363=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2901085	NM_198576.4(AGRN):c.5652-16_5652-12dup	AGRN	Duplication (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2900042	NM_198576.4(AGRN):c.5371-9G>C	AGRN	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 2894754	NM_198576.4(AGRN):c.1123G>A (p.Ala375Thr)	AGRN (A270T +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2894578	NM_198576.4(AGRN):c.2149-18A>G	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2892621	NM_198576.4(AGRN):c.2222G>T (p.Gly741Val)	AGRN (G636V +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
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 2888389	NM_198576.4(AGRN):c.620C>A (p.Ala207Glu)	AGRN (A102E +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2887629	NM_198576.4(AGRN):c.1053C>T (p.Ala351=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2886840	NM_198576.4(AGRN):c.4514+16G>A	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2886438	NM_198576.4(AGRN):c.4514+8C>T	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2885603	NM_198576.4(AGRN):c.1599C>T (p.Pro533=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2883384	NM_198576.4(AGRN):c.2255-11C>T	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2883246	NM_198576.4(AGRN):c.3516+19C>A	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2883191	NM_198576.4(AGRN):c.4298+9G>C	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2883107	NM_198576.4(AGRN):c.2808C>G (p.Val936=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2879812	NM_198576.4(AGRN):c.4923C>T (p.Asn1641=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2877054	NM_198576.4(AGRN):c.75C>G (p.Pro25=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2876001	NM_198576.4(AGRN):c.1254C>G (p.Arg418=)	AGRN	Single nucleotide variant (synonymous 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 2875325	NM_198576.4(AGRN):c.6129C>T (p.Pro2043=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2870961	NM_198576.4(AGRN):c.63G>T (p.Ala21=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2869323	NM_198576.4(AGRN):c.24C>T (p.Gly8=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2865928	NM_198576.4(AGRN):c.3255C>G (p.Leu1085=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2865223	NM_198576.4(AGRN):c.5652-16G>T	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2864631	NM_198576.4(AGRN):c.4158C>T (p.Pro1386=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2862855	NM_198576.4(AGRN):c.4539C>T (p.Gly1513=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2861355	NM_198576.4(AGRN):c.3957C>T (p.Pro1319=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2860434	NM_198576.4(AGRN):c.2967A>G (p.Pro989=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2856614	NM_198576.4(AGRN):c.2806-14G>A	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2845736	NM_198576.4(AGRN):c.5835G>T (p.Val1945=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2843027	NM_198576.4(AGRN):c.512-7G>C	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2827910	NM_198576.4(AGRN):c.1338G>A (p.Glu446=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 2814533	NM_198576.4(AGRN):c.464-2A>G	AGRN	Single nucleotide variant (splice acceptor variant)	Congenital myasthenic syndrome 8	GLikely pathogenic
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 2808198	NM_198576.4(AGRN):c.1177+20dup	AGRN	Duplication (intron variant)	Congenital myasthenic syndrome 8	GBenign
Select item 2805325	NM_198576.4(AGRN):c.570G>A (p.Pro190=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign

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