C4225368[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 364595	NM_005592.4(MUSK):c.-82T>C	MUSK	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 364596	NM_005592.4(MUSK):c.-43G>A	MUSK	Single nucleotide variant (5 prime UTR variant)	Congenital myasthenic syndrome 9	GUncertain significance
Select item 364597	NM_005592.4(MUSK):c.80-8C>T	MUSK	Single nucleotide variant (intron variant)	MUSK-related condition +2 more	GBenign/Likely benign
Select item 912937	NM_005592.4(MUSK):c.131T>C (p.Val44Ala)	MUSK (V44A)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 9	GUncertain significance
Select item 364598	NM_005592.4(MUSK):c.206+10C>T	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GConflicting classifications of pathogenicity
Select item 129632	NM_005592.4(MUSK):c.225C>T (p.Tyr75=)	MUSK	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 364599	NM_005592.4(MUSK):c.233G>A (p.Arg78Gln)	MUSK (R78Q)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 9 +3 more	GUncertain significance
Select item 364600	NM_005592.4(MUSK):c.239A>G (p.Asn80Ser)	MUSK (N80S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 9	GUncertain significance
Select item 129634	NM_005592.4(MUSK):c.299C>T (p.Thr100Met)	MUSK (T100M)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GBenign
Select item 476145	NM_005592.4(MUSK):c.300G>A (p.Thr100=)	MUSK	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +2 more	GConflicting classifications of pathogenicity
Select item 364601	NM_005592.4(MUSK):c.312T>C (p.Gly104=)	MUSK	Single nucleotide variant (synonymous variant)	MUSK-related condition +3 more	GConflicting classifications of pathogenicity
Select item 259809	NM_005592.4(MUSK):c.320G>A (p.Gly107Glu)	MUSK (G107E)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 652125	NM_005592.4(MUSK):c.373C>T (p.Arg125Cys)	MUSK (R125C)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 542747	NM_005592.4(MUSK):c.374G>A (p.Arg125His)	MUSK (R125H)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 197256	NM_005592.4(MUSK):c.398T>C (p.Ile133Thr)	MUSK (I133T)	Single nucleotide variant (missense variant)	MUSK-related condition +4 more	GBenign/Likely benign
Select item 129635	NM_005592.4(MUSK):c.402G>A (p.Glu134=)	MUSK	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +2 more	GBenign
Select item 651473	NM_005592.4(MUSK):c.467A>T (p.Lys156Met)	MUSK (K156M)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 129636	NM_005592.4(MUSK):c.475A>G (p.Ser159Gly)	MUSK (S159G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 197258	NM_005592.4(MUSK):c.486G>C (p.Arg162Ser)	MUSK (R162S)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GConflicting classifications of pathogenicity
Select item 197257	NM_005592.4(MUSK):c.486+7G>C	MUSK	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +3 more	GBenign/Likely benign
Select item 914416	NM_005592.4(MUSK):c.486+15T>C	MUSK	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GConflicting classifications of pathogenicity
Select item 364602	NM_005592.4(MUSK):c.500T>C (p.Ile167Thr)	MUSK (I167T)	Single nucleotide variant (missense variant)	MUSK-related condition +3 more	GBenign/Likely benign
Select item 129637	NM_005592.4(MUSK):c.537C>T (p.Asn179=)	MUSK	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +2 more	GBenign
Select item 914417	NM_005592.4(MUSK):c.538G>A (p.Val180Ile)	MUSK (V180I)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 9 +1 more	GUncertain significance
Select item 702804	NM_005592.4(MUSK):c.549A>G (p.Glu183=)	MUSK	Single nucleotide variant (synonymous variant)	MUSK-related condition +3 more	GConflicting classifications of pathogenicity
Select item 281408	NM_005592.4(MUSK):c.665A>G (p.Asn222Ser)	MUSK (N222S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 259812	NM_005592.4(MUSK):c.666T>C (p.Asn222=)	MUSK	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 9 +3 more	GConflicting classifications of pathogenicity
Select item 914935	NM_005592.4(MUSK):c.701C>T (p.Thr234Ile)	MUSK (T244I +1 more)	Single nucleotide variant (missense variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 364603	NM_005592.4(MUSK):c.780T>C (p.Ser260=)	MUSK	Single nucleotide variant (synonymous variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GConflicting classifications of pathogenicity
Select item 914936	NM_005592.4(MUSK):c.797T>C (p.Ile266Thr)	MUSK (I266T +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 9	GUncertain significance
Select item 364604	NM_005592.4(MUSK):c.857A>G (p.Asn286Ser)	MUSK (N286S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 914937	NM_005592.4(MUSK):c.913+10C>G	MUSK	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GConflicting classifications of pathogenicity
Select item 914938	NM_005592.4(MUSK):c.914-14T>G	MUSK	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GConflicting classifications of pathogenicity
Select item 199112	NM_005592.4(MUSK):c.929A>C (p.Gln310Pro)	MUSK (Q310P)	Single nucleotide variant (5 prime UTR variant +2 more)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 912982	NM_005592.4(MUSK):c.1014C>A (p.Asn338Lys)	MUSK (N338K)	Single nucleotide variant (5 prime UTR variant +2 more)	Congenital myasthenic syndrome 9 +1 more	GUncertain significance
Select item 912983	NM_005592.4(MUSK):c.1035G>T (p.Glu345Asp)	MUSK (E345D)	Single nucleotide variant (5 prime UTR variant +2 more)	Congenital myasthenic syndrome 9	GUncertain significance
Select item 289236	NM_005592.4(MUSK):c.1062G>A (p.Thr354=)	MUSK	Single nucleotide variant (5 prime UTR variant +2 more)	Fetal akinesia deformation sequence 1 +2 more	GBenign/Likely benign
Select item 364605	NM_005592.4(MUSK):c.1099C>T (p.Arg367Trp)	MUSK (R367W)	Single nucleotide variant (5 prime UTR variant +2 more)	Congenital myasthenic syndrome 9 +3 more	GUncertain significance
Select item 364606	NM_005592.4(MUSK):c.1102C>T (p.Pro368Ser)	MUSK (P368S)	Single nucleotide variant (5 prime UTR variant +2 more)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 259799	NM_005592.4(MUSK):c.1189T>C (p.Tyr397His)	MUSK (Y397H +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 9 +2 more	GBenign
Select item 129630	NM_005592.4(MUSK):c.1239G>A (p.Met413Ile)	MUSK (M413I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 364607	NM_005592.4(MUSK):c.1250C>T (p.Thr417Ile)	MUSK (T417I +3 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 9 +1 more	GConflicting classifications of pathogenicity
Select item 872556	NM_005592.4(MUSK):c.1277T>C (p.Met426Thr)	MUSK (M14T +3 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 9 +2 more	GConflicting classifications of pathogenicity
Select item 364608	NM_005592.4(MUSK):c.1291G>A (p.Val431Met)	MUSK (V431M +3 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 9 +1 more	GUncertain significance
Select item 913348	NM_005592.4(MUSK):c.1372G>A (p.Glu458Lys)	MUSK (E458K)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 9	GUncertain significance
Select item 913349	NM_005592.4(MUSK):c.1446C>G (p.Ser482=)	MUSK	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GConflicting classifications of pathogenicity
Select item 364609	NM_005592.4(MUSK):c.1516A>G (p.Ile506Val)	MUSK (I506V +3 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 9 +2 more	GUncertain significance
Select item 364610	NM_005592.4(MUSK):c.1522G>A (p.Val508Met)	MUSK (V508M +3 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 9 +2 more	GConflicting classifications of pathogenicity
Select item 706306	NM_005592.4(MUSK):c.1683G>A (p.Leu561=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +2 more	GConflicting classifications of pathogenicity
Select item 259802	NM_005592.4(MUSK):c.1719T>C (p.Asn573=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +2 more	GConflicting classifications of pathogenicity
Select item 476134	NM_005592.4(MUSK):c.1779-7C>T	MUSK	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 476136	NM_005592.4(MUSK):c.1863G>A (p.Ala621=)	MUSK	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GConflicting classifications of pathogenicity
Select item 364611	NM_005592.4(MUSK):c.1927+9dup	MUSK	Duplication (intron variant)	Congenital Myasthenic Syndrome, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 364612	NM_005592.4(MUSK):c.1928-6T>C	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9	GUncertain significance
Select item 259805	NM_005592.4(MUSK):c.1931T>C (p.Val644Ala)	MUSK (V644A +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 286073	NM_005592.4(MUSK):c.1941C>T (p.Val647=)	MUSK	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +2 more	GConflicting classifications of pathogenicity
Select item 476138	NM_005592.4(MUSK):c.1942G>A (p.Gly648Arg)	MUSK (G648R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 259806	NM_005592.4(MUSK):c.1991A>G (p.Asn664Ser)	MUSK (N664S +3 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 9 +3 more	GBenign/Likely benign
Select item 364613	NM_005592.4(MUSK):c.2098G>A (p.Ala700Thr)	MUSK (A700T +3 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 9 +1 more	GConflicting classifications of pathogenicity
Select item 914984	NM_005592.4(MUSK):c.2171G>A (p.Arg724Gln)	MUSK (R638Q +3 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 9	GUncertain significance
Select item 129631	NM_005592.4(MUSK):c.2202C>T (p.Gly734=)	MUSK	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 542749	NM_005592.4(MUSK):c.2203G>A (p.Glu735Lys)	MUSK (E735K +3 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GConflicting classifications of pathogenicity
Select item 364614	NM_005592.4(MUSK):c.2286C>T (p.Asp762=)	MUSK	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +2 more	GBenign/Likely benign
Select item 839724	NM_005592.4(MUSK):c.2287G>A (p.Ala763Thr)	MUSK (A343T +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 364615	NM_005592.4(MUSK):c.2331C>T (p.Asn777=)	MUSK	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GBenign/Likely benign
Select item 914985	NM_005592.4(MUSK):c.2333G>A (p.Arg778His)	MUSK (R682H +3 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 9 +1 more	GUncertain significance
Select item 914986	NM_005592.4(MUSK):c.2353G>A (p.Val785Met)	MUSK (V689M +3 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 9	GUncertain significance
Select item 364616	NM_005592.4(MUSK):c.2393A>G (p.Tyr798Cys)	MUSK (Y798C +3 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 9 +2 more	GConflicting classifications of pathogenicity
Select item 645810	NM_005592.4(MUSK):c.2447G>A (p.Arg816Gln)	MUSK (R816Q +3 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 9 +1 more	GUncertain significance
Select item 129633	NM_005592.4(MUSK):c.2485G>T (p.Val829Leu)	MUSK (V829L +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 851303	NM_005592.4(MUSK):c.2520C>A (p.Ser840Arg)	MUSK (S754R +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 913032	NM_005592.4(MUSK):c.2561G>A (p.Arg854Gln)	MUSK (R758Q +3 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 9 +1 more	GUncertain significance
Select item 364617	NM_005592.4(MUSK):c.2573G>A (p.Arg858His)	MUSK (R858H +3 more)	Single nucleotide variant (missense variant)	MUSK-related condition +2 more	GBenign/Likely benign

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Items: 73