ClinVar for MedGen (Select 863042) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 437

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248312	NC_000020.10:g.(?_389402)_(402902_?)del	RBCK1	Deletion	Polyglucosan body myopathy type 1	GPathogenic
Select item 3248309	NC_000020.10:g.(?_389402)_(398594_?)del	RBCK1	Deletion	Polyglucosan body myopathy type 1	GPathogenic
Select item 3248308	NC_000020.10:g.(?_389402)_(443049_?)del	RBCK1, TBC1D20	Deletion	Polyglucosan body myopathy type 1	GPathogenic
Select item 3023665	NM_031229.4(RBCK1):c.1170C>G (p.Thr390=)	RBCK1	Single nucleotide variant (synonymous variant +1 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 3018045	NM_031229.4(RBCK1):c.757-4C>T	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 3014179	NM_031229.4(RBCK1):c.483G>A (p.Thr161=)	RBCK1 (R45H)	Single nucleotide variant (missense variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 3012752	NM_031229.4(RBCK1):c.996C>T (p.Cys332=)	RBCK1	Single nucleotide variant (synonymous variant +1 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 3010139	NM_031229.4(RBCK1):c.330C>T (p.Asp110=)	RBCK1	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 3006052	NM_031229.4(RBCK1):c.1065C>T (p.Asp355=)	RBCK1	Single nucleotide variant (synonymous variant +1 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 3005551	NM_031229.4(RBCK1):c.709C>A (p.Arg237=)	RBCK1 (S120R)	Single nucleotide variant (non-coding transcript variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 3004402	NM_031229.4(RBCK1):c.672C>T (p.Tyr224=)	RBCK1 (T108I)	Single nucleotide variant (missense variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2999857	NM_031229.4(RBCK1):c.460+15T>C	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2999825	NM_031229.4(RBCK1):c.531C>A (p.Val177=)	RBCK1 (S61Y)	Single nucleotide variant (missense variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2998767	NM_031229.4(RBCK1):c.167+10G>A	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2992889	NM_031229.4(RBCK1):c.261+20G>A	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2989226	NM_031229.4(RBCK1):c.492G>T (p.Pro164=)	RBCK1 (R48L)	Single nucleotide variant (missense variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2984669	NM_031229.4(RBCK1):c.372C>T (p.Asp124=)	RBCK1 (T8I)	Single nucleotide variant (synonymous variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2983848	NM_031229.4(RBCK1):c.840C>T (p.Ala280=)	RBCK1	Single nucleotide variant (synonymous variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2981582	NM_031229.4(RBCK1):c.1482C>T (p.Arg494=)	RBCK1	Single nucleotide variant (synonymous variant +1 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2976436	NM_031229.4(RBCK1):c.582+9_582+15dup	RBCK1	Duplication (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2973126	NM_031229.4(RBCK1):c.606C>T (p.Cys202=)	RBCK1 (A86V)	Single nucleotide variant (missense variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2969361	NM_031229.4(RBCK1):c.1210-8C>T	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2963997	NM_031229.4(RBCK1):c.918-16C>G	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2962569	NM_031229.4(RBCK1):c.1452+15G>T	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2962334	NM_031229.4(RBCK1):c.717C>T (p.Arg239=)	RBCK1 (A123V)	Single nucleotide variant (missense variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2957314	NM_031229.4(RBCK1):c.169C>T (p.Leu57=)	RBCK1	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2957054	NM_031229.4(RBCK1):c.441G>A (p.Arg147=)	RBCK1 (G31D)	Single nucleotide variant (missense variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2920212	NM_031229.4(RBCK1):c.1305G>A (p.Leu435=)	RBCK1	Single nucleotide variant (synonymous variant +1 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2918395	NM_031229.4(RBCK1):c.757-11C>T	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2917284	NM_031229.4(RBCK1):c.927G>A (p.Leu309=)	RBCK1	Single nucleotide variant (synonymous variant +1 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2913221	NM_031229.4(RBCK1):c.348C>G (p.Ser116=)	RBCK1	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2912010	NM_031229.4(RBCK1):c.1308+13C>T	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2908896	NM_031229.4(RBCK1):c.149C>T (p.Ser50Phe)	RBCK1 (S67F +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 2903410	NM_031229.4(RBCK1):c.918-7C>G	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2899249	NM_031229.4(RBCK1):c.460+13C>T	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2892743	NM_031229.4(RBCK1):c.907A>G (p.Thr303Ala)	RBCK1 (T303A +2 more)	Single nucleotide variant (missense variant +1 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 2892742	NM_031229.4(RBCK1):c.577C>T (p.Pro193Ser)	RBCK1 (P193S +2 more)	Single nucleotide variant (synonymous variant +2 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 2892225	NM_031229.4(RBCK1):c.186G>A (p.Glu62=)	RBCK1	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2890888	NM_031229.4(RBCK1):c.460+12C>T	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2885559	NM_031229.4(RBCK1):c.1149G>A (p.Glu383=)	RBCK1	Single nucleotide variant (synonymous variant +1 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2872867	NM_031229.4(RBCK1):c.757-20G>A	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2866426	NM_031229.4(RBCK1):c.240A>G (p.Thr80=)	RBCK1	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2863799	NM_031229.4(RBCK1):c.570T>G (p.Pro190=)	RBCK1 (L74R)	Single nucleotide variant (missense variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2863585	NM_031229.4(RBCK1):c.456G>A (p.Leu152=)	RBCK1 (W36*)	Single nucleotide variant (nonsense +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2856763	NM_031229.4(RBCK1):c.1209+11C>G	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2853961	NM_031229.4(RBCK1):c.942C>T (p.Arg314=)	RBCK1	Single nucleotide variant (synonymous variant +1 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2850770	NM_031229.4(RBCK1):c.882C>A (p.Ala294=)	RBCK1	Single nucleotide variant (synonymous variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2818749	NM_031229.4(RBCK1):c.757-7T>C	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2814921	NM_031229.4(RBCK1):c.917+12A>G	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2810743	NM_031229.4(RBCK1):c.168-20G>A	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2782507	NM_031229.4(RBCK1):c.867G>A (p.Leu289=)	RBCK1	Single nucleotide variant (synonymous variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2778393	NM_031229.4(RBCK1):c.1332C>G (p.Ala444=)	RBCK1	Single nucleotide variant (synonymous variant +1 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2777659	NM_031229.4(RBCK1):c.948C>T (p.Ser316=)	RBCK1	Single nucleotide variant (synonymous variant +1 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2777452	NM_031229.4(RBCK1):c.1206C>T (p.Cys402=)	RBCK1	Single nucleotide variant (synonymous variant +1 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2759050	NM_031229.4(RBCK1):c.447G>A (p.Leu149=)	RBCK1 (C33Y)	Single nucleotide variant (missense variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2739594	NM_031229.4(RBCK1):c.757-16C>T	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2738369	NM_031229.4(RBCK1):c.1136G>A (p.Trp379Ter)	RBCK1 (W379* +3 more)	Single nucleotide variant (nonsense +1 more)	Polyglucosan body myopathy type 1	GPathogenic
Select item 2724087	NM_031229.4(RBCK1):c.917+19C>A	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2719015	NM_031229.4(RBCK1):c.758G>C (p.Arg253Pro)	RBCK1 (R211P +2 more)	Single nucleotide variant (missense variant +2 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 2706120	NM_031229.4(RBCK1):c.1386G>A (p.Trp462Ter)	RBCK1 (W420* +3 more)	Single nucleotide variant (nonsense +1 more)	Polyglucosan body myopathy type 1	GPathogenic
Select item 2703812	NM_031229.4(RBCK1):c.701_708dup (p.Ala238fs)	RBCK1 (A238fs +3 more)	Duplication (frameshift variant +1 more)	Polyglucosan body myopathy type 1	GPathogenic
Select item 2694077	NM_031229.4(RBCK1):c.461-8C>A	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2693321	NM_031229.4(RBCK1):c.873C>A (p.Pro291=)	RBCK1	Single nucleotide variant (synonymous variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2505540	NM_031229.4(RBCK1):c.1108_1109insT (p.His370fs)	RBCK1 (H200fs +3 more)	Insertion (frameshift variant +1 more)	Polyglucosan body myopathy type 1	GLikely pathogenic
Select item 2426962	NC_000020.10:g.(?_401495)_(443049_?)dup	RBCK1, TBC1D20	Duplication	Polyglucosan body myopathy type 1	GUncertain significance
Select item 2426961	NC_000020.10:g.(?_389402)_(390689_?)dup	RBCK1	Duplication	Polyglucosan body myopathy type 1	GUncertain significance
Select item 2425676	NM_031229.4(RBCK1):c.997T>C (p.Ser333Pro)	RBCK1 (S163P +3 more)	Single nucleotide variant (missense variant +1 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 2415204	NM_031229.4(RBCK1):c.891G>A (p.Leu297=)	RBCK1	Single nucleotide variant (synonymous variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2413780	NM_031229.4(RBCK1):c.1430A>G (p.Lys477Arg)	RBCK1 (K307R +3 more)	Single nucleotide variant (missense variant +1 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 2413275	NM_031229.4(RBCK1):c.167+9T>C	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2201063	NM_031229.4(RBCK1):c.1164G>C (p.Glu388Asp)	RBCK1 (E388D +3 more)	Single nucleotide variant (missense variant +1 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 2197062	NM_031229.4(RBCK1):c.261+14C>T	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2195927	NM_031229.4(RBCK1):c.770A>T (p.Gln257Leu)	RBCK1 (Q257L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2188547	NM_031229.4(RBCK1):c.917+11dup	RBCK1	Duplication (intron variant)	Polyglucosan body myopathy type 1	GBenign
Select item 2186467	NM_031229.4(RBCK1):c.875G>T (p.Gly292Val)	RBCK1 (G292V +2 more)	Single nucleotide variant (missense variant +2 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 2184569	NM_031229.4(RBCK1):c.1309-14C>G	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2182079	NM_031229.4(RBCK1):c.976A>G (p.Ile326Val)	RBCK1 (I284V +3 more)	Single nucleotide variant (missense variant +1 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 2181968	NM_031229.4(RBCK1):c.359G>A (p.Arg120Gln)	RBCK1 (R137Q +3 more)	Single nucleotide variant (missense variant +1 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 2175007	NM_031229.4(RBCK1):c.571G>A (p.Glu191Lys)	RBCK1 (E191K +2 more)	Single nucleotide variant (synonymous variant +2 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 2172145	NM_031229.4(RBCK1):c.714G>A (p.Ala238=)	RBCK1 (R122H)	Single nucleotide variant (non-coding transcript variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2166970	NM_031229.4(RBCK1):c.936C>T (p.Thr312=)	RBCK1	Single nucleotide variant (synonymous variant +1 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2162250	NM_031229.4(RBCK1):c.582+17C>T	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2161817	NM_031229.4(RBCK1):c.290T>C (p.Val97Ala)	RBCK1 (V55A +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 2158346	NM_031229.4(RBCK1):c.262-17C>G	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2157593	NM_031229.4(RBCK1):c.860C>T (p.Ser287Leu)	RBCK1 (S245L +2 more)	Single nucleotide variant (missense variant +2 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 2153339	NM_031229.4(RBCK1):c.227G>A (p.Arg76His)	RBCK1 (R34H +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 2151581	NM_031229.4(RBCK1):c.900T>C (p.Cys300=)	RBCK1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2150748	NM_031229.4(RBCK1):c.1239G>A (p.Glu413=)	RBCK1	Single nucleotide variant (non-coding transcript variant +1 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2145709	NM_031229.4(RBCK1):c.909C>T (p.Thr303=)	RBCK1	Single nucleotide variant (synonymous variant +1 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2142792	NM_031229.4(RBCK1):c.1029+8C>T	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2140297	NM_031229.4(RBCK1):c.156G>A (p.Thr52=)	RBCK1	Single nucleotide variant (5 prime UTR variant +3 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2139220	NM_031229.4(RBCK1):c.633T>C (p.Pro211=)	RBCK1 (L95P)	Single nucleotide variant (missense variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2133489	NM_031229.4(RBCK1):c.1514G>A (p.Ser505Asn)	RBCK1 (S522N +3 more)	Single nucleotide variant (missense variant +1 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 2130902	NM_031229.4(RBCK1):c.1408A>G (p.Thr470Ala)	RBCK1 (T428A +3 more)	Single nucleotide variant (missense variant +1 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 2121597	NM_031229.4(RBCK1):c.22+17G>C	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2113418	NM_031229.4(RBCK1):c.1368G>T (p.Lys456Asn)	RBCK1 (K414N +3 more)	Single nucleotide variant (missense variant +1 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 2105689	NM_031229.4(RBCK1):c.49C>T (p.Arg17Ter)	RBCK1 (R34* +1 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Polyglucosan body myopathy type 1	GPathogenic
Select item 2105669	NM_031229.4(RBCK1):c.594G>A (p.Gln198=)	RBCK1 (S82N)	Single nucleotide variant (missense variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2104156	NM_031229.4(RBCK1):c.744T>A (p.Arg248=)	RBCK1 (V132D)	Single nucleotide variant (missense variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2096317	NM_031229.4(RBCK1):c.262-4C>G	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GUncertain significance

<< First< Prev

Page of 5