ClinVar for Gene (Select 4593) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 842

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366460	NM_005592.4(MUSK):c.2324T>C (p.Phe775Ser)	MUSK (F355S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297029	NM_005592.4(MUSK):c.46G>C (p.Val16Leu)	MUSK (V16L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297028	NM_005592.4(MUSK):c.2405C>A (p.Pro802His)	MUSK (P382H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297027	NM_005592.4(MUSK):c.1321C>T (p.His441Tyr)	MUSK (H29Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297026	NM_005592.4(MUSK):c.989C>G (p.Ala330Gly)	MUSK (A330G)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3245265	NC_000009.11:g.(?_113547866)_(113548336_?)del	MUSK	Deletion	Fetal akinesia deformation sequence 1 +1 more	GLikely pathogenic
Select item 3245264	NC_000009.11:g.(?_113538048)_(113538955_?)del	MUSK	Deletion	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 3245263	NC_000009.11:g.(?_113449377)_(113449568_?)del	MUSK	Deletion	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 3245262	NC_000009.11:g.(?_113547787)_(113548018_?)del	MUSK	Deletion	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 3151325	NM_005592.4(MUSK):c.854C>G (p.Thr285Ser)	MUSK (T285S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3151320	NM_005592.4(MUSK):c.847A>G (p.Ile283Val)	MUSK (I293V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3151295	NM_005592.4(MUSK):c.557G>A (p.Gly186Glu)	MUSK (G186E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3151283	NM_005592.4(MUSK):c.400G>C (p.Glu134Gln)	MUSK (E134Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3151208	NM_005592.4(MUSK):c.1222A>G (p.Lys408Glu)	MUSK (K320E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3151202	NM_005592.4(MUSK):c.1115C>A (p.Ala372Asp)	MUSK (A372D)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3151200	NM_005592.4(MUSK):c.1114G>A (p.Ala372Thr)	MUSK (A372T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3054511	NM_005592.4(MUSK):c.1338C>T (p.Ala446=)	MUSK	Single nucleotide variant (synonymous variant)	MUSK-related disorder	GLikely benign
Select item 3045621	NM_005592.4(MUSK):c.*4T>C	MUSK	Single nucleotide variant (3 prime UTR variant)	MUSK-related disorder	GLikely benign
Select item 3040566	NM_005592.4(MUSK):c.629-5550C>T	MUSK	Single nucleotide variant (synonymous variant +1 more)	MUSK-related disorder	GLikely benign
Select item 3036706	NM_005592.4(MUSK):c.629-5544A>G	MUSK	Single nucleotide variant (synonymous variant +1 more)	MUSK-related disorder	GLikely benign
Select item 2953785	NM_005592.4(MUSK):c.90C>T (p.Ile30=)	MUSK	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2953752	NM_005592.4(MUSK):c.81_84del (p.Pro28fs)	MUSK (P28fs)	Deletion (frameshift variant)	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 2953478	NM_005592.4(MUSK):c.1778+19A>C	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2953317	NM_005592.4(MUSK):c.1586+7T>C	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2953223	NM_005592.4(MUSK):c.2192del (p.Cys731fs)	MUSK (C645fs +3 more)	Deletion (frameshift variant)	Congenital myasthenic syndrome 9 +1 more	GPathogenic
Select item 2953184	NM_005592.4(MUSK):c.1592C>G (p.Ser531Ter)	MUSK (S445* +3 more)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 9 +1 more	GPathogenic
Select item 2953074	NM_005592.4(MUSK):c.2122C>T (p.Gln708Ter)	MUSK (Q288* +3 more)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 9 +1 more	GPathogenic
Select item 2952829	NM_005592.4(MUSK):c.675T>C (p.Phe225=)	MUSK	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2952720	NM_005592.4(MUSK):c.222G>C (p.Arg74=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2952415	NM_005592.4(MUSK):c.80-9T>C	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2952376	NM_005592.4(MUSK):c.234G>A (p.Arg78=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2952291	NM_005592.4(MUSK):c.1605C>A (p.Thr535=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2952278	NM_005592.4(MUSK):c.359-16T>G	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2952232	NM_005592.4(MUSK):c.1455C>T (p.Ser485=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2952044	NM_005592.4(MUSK):c.759T>C (p.Ser253=)	MUSK	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2951981	NM_005592.4(MUSK):c.790C>T (p.Arg264Ter)	MUSK (R274* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital myasthenic syndrome 9 +1 more	GPathogenic
Select item 2951562	NM_005592.4(MUSK):c.2394T>C (p.Tyr798=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2951454	NM_005592.4(MUSK):c.1185-7A>G	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2951345	NM_005592.4(MUSK):c.738T>A (p.Ile246=)	MUSK	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2951167	NM_005592.4(MUSK):c.417C>G (p.Val139=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2950728	NM_005592.4(MUSK):c.1360+18C>T	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2950581	NM_005592.4(MUSK):c.1698C>G (p.Leu566=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2950349	NM_005592.4(MUSK):c.2463C>T (p.Leu821=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2949740	NM_005592.4(MUSK):c.1587-5T>G	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2949650	NM_005592.4(MUSK):c.276T>C (p.Ser92=)	MUSK	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2949597	NM_005592.4(MUSK):c.1927+8A>C	MUSK	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2949503	NM_005592.4(MUSK):c.252C>G (p.Leu84=)	MUSK	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2949439	NM_005592.4(MUSK):c.1361-13C>A	MUSK	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2949420	NM_005592.4(MUSK):c.496C>A (p.Arg166=)	MUSK	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2949414	NM_005592.4(MUSK):c.1384del (p.Thr462fs)	MUSK (T462fs)	Deletion (frameshift variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 2949331	NM_005592.4(MUSK):c.114T>A (p.Asp38Glu)	MUSK (D38E)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely pathogenic
Select item 2949300	NM_005592.4(MUSK):c.358+9G>A	MUSK	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2949119	NM_005592.4(MUSK):c.765G>A (p.Gly255=)	MUSK	Single nucleotide variant (synonymous variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2949047	NM_005592.4(MUSK):c.358+18T>C	MUSK	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2949026	NM_005592.4(MUSK):c.1005T>A (p.Val335=)	MUSK	Single nucleotide variant (5 prime UTR variant +2 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2948695	NM_005592.4(MUSK):c.1928-14T>C	MUSK	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2948534	NM_005592.4(MUSK):c.79+14A>G	MUSK	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2948329	NM_005592.4(MUSK):c.1927+17G>C	MUSK	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2948197	NM_005592.4(MUSK):c.1299_1300del (p.Cys434fs)	MUSK (C346fs +3 more)	Deletion (frameshift variant)	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 2948129	NM_005592.4(MUSK):c.166dup (p.Gln56fs)	MUSK (Q56fs)	Duplication (frameshift variant)	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 2947931	NM_005592.4(MUSK):c.1461T>C (p.Ser487=)	MUSK	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2947894	NM_005592.4(MUSK):c.1184+20T>C	MUSK	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2947532	NM_005592.4(MUSK):c.790C>A (p.Arg264=)	MUSK	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2947489	NM_005592.4(MUSK):c.1778+25del	MUSK	Deletion (intron variant)	Congenital myasthenic syndrome 9 +1 more	GBenign
Select item 2947328	NM_005592.4(MUSK):c.900C>T (p.Thr300=)	MUSK	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2947321	NM_005592.4(MUSK):c.486+16G>A	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2947318	NM_005592.4(MUSK):c.1416T>C (p.Ser472=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2947187	NM_005592.4(MUSK):c.914-10C>A	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2947177	NM_005592.4(MUSK):c.358+19C>A	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2946951	NM_005592.4(MUSK):c.132G>A (p.Val44=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2946899	NM_005592.4(MUSK):c.117C>T (p.Ala39=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2946785	NM_005592.4(MUSK):c.1779-20T>C	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2946681	NM_005592.4(MUSK):c.2274T>G (p.Ala758=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2946482	NM_005592.4(MUSK):c.914-5A>G	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2946350	NM_005592.4(MUSK):c.1185-19T>A	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2946182	NM_005592.4(MUSK):c.879T>C (p.Ser293=)	MUSK	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2946106	NM_005592.4(MUSK):c.913+9C>T	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2945976	NM_005592.4(MUSK):c.2496C>T (p.Tyr832=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2945921	NM_005592.4(MUSK):c.868del (p.Glu290fs)	MUSK (E290fs +1 more)	Deletion (frameshift variant +1 more)	Congenital myasthenic syndrome 9 +1 more	GPathogenic
Select item 2945873	NM_005592.4(MUSK):c.1749G>A (p.Glu583=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2945678	NM_005592.4(MUSK):c.913+10C>T	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2945601	NM_005592.4(MUSK):c.487-9C>T	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2944999	NM_005592.4(MUSK):c.1833C>A (p.Leu611=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2944945	NM_005592.4(MUSK):c.351G>T (p.Val117=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2944717	NM_005592.4(MUSK):c.79+7T>C	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2944644	NM_005592.4(MUSK):c.1360+7C>G	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2944569	NM_005592.4(MUSK):c.2382G>A (p.Glu794=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2944470	NM_005592.4(MUSK):c.2021_2022dup (p.Val675fs)	MUSK (V589fs +3 more)	Duplication (frameshift variant)	Congenital myasthenic syndrome 9 +1 more	GPathogenic
Select item 2944298	NM_005592.4(MUSK):c.573G>A (p.Val191=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2944152	NM_005592.4(MUSK):c.1586+15dup	MUSK	Duplication (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2943619	NM_005592.4(MUSK):c.913+11C>T	MUSK	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2943458	NM_005592.4(MUSK):c.12C>G (p.Leu4=)	MUSK	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2943423	NM_005592.4(MUSK):c.1384+9T>C	MUSK	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2943382	NM_005592.4(MUSK):c.1927+19G>A	MUSK	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2943150	NM_005592.4(MUSK):c.2292C>A (p.Ile764=)	MUSK	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2943027	NM_005592.4(MUSK):c.1384+20C>G	MUSK	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2942766	NM_005592.4(MUSK):c.207-11G>C	MUSK	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2941926	NM_005592.4(MUSK):c.1826del (p.Lys609fs)	MUSK (K513fs +3 more)	Deletion (frameshift variant)	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 2941352	NM_005592.4(MUSK):c.80-19A>T	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign

<< First< Prev

Page of 9