Related gene-specific medical variations for Gene (Select 60684) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246687	NC_000004.11:g.(?_184615786)_(184627497_?)del	TRAPPC11	Deletion	Autosomal recessive limb-girdle muscular dystrophy type R18	GPathogenic
Select item 3181959	NM_021942.6(TRAPPC11):c.2448T>G (p.Asp816Glu)	LOC126807238, TRAPPC11 (D816E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3010289	NM_021942.6(TRAPPC11):c.2499A>G (p.Pro833=)	LOC126807238, TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2986902	NM_021942.6(TRAPPC11):c.2289T>C (p.Pro763=)	LOC126807238, TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2906266	NM_021942.6(TRAPPC11):c.2388A>G (p.Gly796=)	LOC126807238, TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2690263	NM_021942.6(TRAPPC11):c.1681G>T (p.Ala561Ser)	TRAPPC11 (A561S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2690262	NM_021942.6(TRAPPC11):c.301T>C (p.Tyr101His)	TRAPPC11 (Y101H)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2684080	NM_021942.6(TRAPPC11):c.835T>C (p.Cys279Arg)	TRAPPC11 (C279R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2620808	NM_021942.6(TRAPPC11):c.2420T>G (p.Val807Gly)	LOC126807238, TRAPPC11 (V807G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555994	NM_021942.6(TRAPPC11):c.2359G>A (p.Val787Met)	LOC126807238, TRAPPC11 (V787M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526505	NM_021942.6(TRAPPC11):c.2500G>A (p.Gly834Arg)	LOC126807238, TRAPPC11 (G834R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2437249	NM_021942.6(TRAPPC11):c.208A>G (p.Thr70Ala)	TRAPPC11 (T70A)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2437248	NM_021942.6(TRAPPC11):c.3032A>C (p.Asn1011Thr)	TRAPPC11 (N1011T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2437247	NM_021942.6(TRAPPC11):c.533C>T (p.Thr178Ile)	TRAPPC11 (T178I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2437246	NM_021942.6(TRAPPC11):c.2123G>A (p.Gly708Glu)	TRAPPC11 (G708E)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2437245	NM_021942.6(TRAPPC11):c.1322C>T (p.Ala441Val)	TRAPPC11 (A441V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2437243	NM_021942.6(TRAPPC11):c.1451G>A (p.Arg484Gln)	TRAPPC11 (R484Q)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2437242	NM_021942.6(TRAPPC11):c.1724A>G (p.Asn575Ser)	TRAPPC11 (N575S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2437241	NM_021942.6(TRAPPC11):c.2966C>T (p.Thr989Ile)	TRAPPC11 (T989I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2437239	NM_021942.6(TRAPPC11):c.3377A>G (p.Asp1126Gly)	TRAPPC11 (D1126G)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2437238	NM_021942.6(TRAPPC11):c.2609T>C (p.Ile870Thr)	TRAPPC11 (I870T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2437237	NM_021942.6(TRAPPC11):c.3242A>C (p.Tyr1081Ser)	TRAPPC11 (Y1081S)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2437236	NM_021942.6(TRAPPC11):c.2393A>G (p.Asp798Gly)	LOC126807238, TRAPPC11 (D798G)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2437235	NM_021942.6(TRAPPC11):c.2112G>C (p.Gln704His)	TRAPPC11 (Q704H)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2437234	NM_021942.6(TRAPPC11):c.895A>G (p.Ile299Val)	TRAPPC11 (I299V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2437233	NM_021942.6(TRAPPC11):c.1081A>C (p.Lys361Gln)	TRAPPC11 (K361Q)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2437231	NM_021942.6(TRAPPC11):c.2875G>A (p.Ala959Thr)	TRAPPC11 (A959T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2437230	NM_021942.6(TRAPPC11):c.728C>T (p.Ala243Val)	TRAPPC11 (A243V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2437229	NM_021942.6(TRAPPC11):c.329G>T (p.Trp110Leu)	TRAPPC11 (W110L)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2313138	NM_021942.6(TRAPPC11):c.2501G>A (p.Gly834Glu)	LOC126807238, TRAPPC11 (G834E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2195591	NM_021942.6(TRAPPC11):c.2292A>G (p.Ala764=)	LOC126807238, TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2182379	NM_021942.6(TRAPPC11):c.2238-17A>G	LOC126807238, TRAPPC11	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2170940	NM_021942.6(TRAPPC11):c.2386+18dup	LOC126807238, TRAPPC11	Duplication (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2158262	NM_021942.6(TRAPPC11):c.2281G>A (p.Glu761Lys)	LOC126807238, TRAPPC11 (E761K)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2156504	NM_021942.6(TRAPPC11):c.2320G>A (p.Val774Met)	LOC126807238, TRAPPC11 (V774M)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2124374	NM_021942.6(TRAPPC11):c.2266G>A (p.Val756Ile)	LOC126807238, TRAPPC11 (V756I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2118129	NM_021942.6(TRAPPC11):c.2345C>T (p.Thr782Ile)	LOC126807238, TRAPPC11 (T782I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2073699	NM_021942.6(TRAPPC11):c.2253C>T (p.Val751=)	LOC126807238, TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2072312	NM_021942.6(TRAPPC11):c.2330A>G (p.Gln777Arg)	LOC126807238, TRAPPC11 (Q777R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2066525	NM_021942.6(TRAPPC11):c.2238-16A>G	LOC126807238, TRAPPC11	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2043047	NM_021942.6(TRAPPC11):c.2275C>T (p.Leu759=)	LOC126807238, TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2038066	NM_021942.6(TRAPPC11):c.2386+7A>G	LOC126807238, TRAPPC11	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2013264	NM_021942.6(TRAPPC11):c.2341A>G (p.Lys781Glu)	LOC126807238, TRAPPC11 (K781E)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 1906158	NM_021942.6(TRAPPC11):c.2371G>A (p.Ala791Thr)	LOC126807238, TRAPPC11 (A791T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 1807095	NM_021942.6(TRAPPC11):c.69G>A (p.Thr23=)	TRAPPC11	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1698543	NM_021942.6(TRAPPC11):c.2330A>C (p.Gln777Pro)	LOC126807238, TRAPPC11 (Q777P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1669035	NM_021942.6(TRAPPC11):c.2508+20A>T	LOC126807238, TRAPPC11	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 1653090	NM_021942.6(TRAPPC11):c.2387-6T>C	LOC126807238, TRAPPC11	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 1627233	NM_021942.6(TRAPPC11):c.2256A>G (p.Pro752=)	LOC126807238, TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 1626414	NM_021942.6(TRAPPC11):c.2508+15C>T	LOC126807238, TRAPPC11	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 1592147	NM_021942.6(TRAPPC11):c.2364G>A (p.Lys788=)	LOC126807238, TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 1587972	NM_021942.6(TRAPPC11):c.2387-16A>G	LOC126807238, TRAPPC11	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 1545840	NM_021942.6(TRAPPC11):c.2387-11A>G	LOC126807238, TRAPPC11	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 1532495	NM_021942.6(TRAPPC11):c.2334C>T (p.Ser778=)	LOC126807238, TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 1529810	NM_021942.6(TRAPPC11):c.2355A>G (p.Arg785=)	LOC126807238, TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 1507565	NM_021942.6(TRAPPC11):c.2384C>T (p.Pro795Leu)	LOC126807238, TRAPPC11 (P795L)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 1491997	NM_021942.6(TRAPPC11):c.2284C>A (p.Pro762Thr)	LOC126807238, TRAPPC11 (P762T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 1491301	NM_021942.6(TRAPPC11):c.2336A>G (p.His779Arg)	LOC126807238, TRAPPC11 (H779R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 1483875	NM_021942.6(TRAPPC11):c.2449G>A (p.Glu817Lys)	LOC126807238, TRAPPC11 (E817K)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 1458638	NM_021942.6(TRAPPC11):c.2389C>T (p.Gln797Ter)	TRAPPC11, LOC126807238 (Q797*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type R18	GPathogenic
Select item 1452649	NM_021942.6(TRAPPC11):c.2281dup (p.Glu761fs)	LOC126807238, TRAPPC11 (E761fs)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GPathogenic
Select item 1413900	NM_021942.6(TRAPPC11):c.2460G>A (p.Pro820=)	LOC126807238, TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 1362167	NM_021942.6(TRAPPC11):c.2270A>G (p.His757Arg)	LOC126807238, TRAPPC11 (H757R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 1325228	NM_021942.6(TRAPPC11):c.2436_2440del (p.Glu813fs)	LOC126807238, TRAPPC11 (E813fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely pathogenic
Select item 1323707	NM_021942.6(TRAPPC11):c.2579del (p.Leu860fs)	TRAPPC11 (L860fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GPathogenic
Select item 1281105	NM_021942.6(TRAPPC11):c.2509-238_2509-236del	LOC126807238, TRAPPC11	Microsatellite (intron variant)	not provided	GBenign
Select item 1265118	NM_021942.6(TRAPPC11):c.2508+241A>C	LOC126807238, TRAPPC11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256305	NM_021942.6(TRAPPC11):c.1972T>A (p.Cys658Ser)	TRAPPC11 (C658S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1249587	NM_021942.6(TRAPPC11):c.2237+218T>C	LOC126807238, TRAPPC11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241002	NM_021942.6(TRAPPC11):c.2238-195G>C	LOC126807238, TRAPPC11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222439	NM_021942.6(TRAPPC11):c.2238-139C>T	LOC126807238, TRAPPC11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206949	NM_021942.6(TRAPPC11):c.2238-103C>T	LOC126807238, TRAPPC11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183975	NM_021942.6(TRAPPC11):c.2186T>C (p.Leu729Pro)	TRAPPC11 (L729P)	Single nucleotide variant (missense variant)	Myopathy	GUncertain significance
Select item 1141362	NM_021942.6(TRAPPC11):c.2358T>C (p.Asp786=)	LOC126807238, TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 1118505	NM_021942.6(TRAPPC11):c.2346C>A (p.Thr782=)	LOC126807238, TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 1109171	NM_021942.6(TRAPPC11):c.2287C>T (p.Pro763Ser)	LOC126807238, TRAPPC11 (P763S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 1103921	NM_021942.6(TRAPPC11):c.2387-8T>C	LOC126807238, TRAPPC11	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 1041145	NM_021942.6(TRAPPC11):c.2238-4A>G	LOC126807238, TRAPPC11	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 1039457	NM_021942.6(TRAPPC11):c.2252T>G (p.Val751Gly)	LOC126807238, TRAPPC11 (V751G)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 1038419	NM_021942.6(TRAPPC11):c.2429A>G (p.His810Arg)	LOC126807238, TRAPPC11 (H810R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 1006292	NM_021942.6(TRAPPC11):c.2459C>T (p.Pro820Leu)	LOC126807238, TRAPPC11 (P820L)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 994831	NM_021942.6(TRAPPC11):c.2269C>T (p.His757Tyr)	LOC126807238, TRAPPC11 (H757Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 987113	NM_021942.6(TRAPPC11):c.1719del (p.Ser574fs)	TRAPPC11 (S574fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 951681	NM_021942.6(TRAPPC11):c.2312G>A (p.Cys771Tyr)	LOC126807238, TRAPPC11 (C771Y)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 946315	NM_021942.6(TRAPPC11):c.2490C>G (p.Asp830Glu)	LOC126807238, TRAPPC11 (D830E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 939454	NM_021942.6(TRAPPC11):c.2458C>T (p.Pro820Ser)	LOC126807238, TRAPPC11 (P820S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 858813	NM_021942.6(TRAPPC11):c.2371G>T (p.Ala791Ser)	LOC126807238, TRAPPC11 (A791S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 858001	NM_021942.6(TRAPPC11):c.2489A>G (p.Asp830Gly)	LOC126807238, TRAPPC11 (D830G)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 852987	NM_021942.6(TRAPPC11):c.2508+5A>G	LOC126807238, TRAPPC11	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 805679	NM_021942.6(TRAPPC11):c.2324C>G (p.Thr775Ser)	LOC126807238, TRAPPC11 (T775S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 772289	NM_021942.6(TRAPPC11):c.2418C>T (p.His806=)	LOC126807238, TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 746830	NM_021942.6(TRAPPC11):c.2379A>G (p.Leu793=)	LOC126807238, TRAPPC11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744200	NM_021942.6(TRAPPC11):c.2328T>C (p.Val776=)	LOC126807238, TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 729878	NM_021942.6(TRAPPC11):c.2490C>T (p.Asp830=)	LOC126807238, TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 715168	NM_021942.6(TRAPPC11):c.2508G>A (p.Gln836=)	LOC126807238, TRAPPC11	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 705966	NM_021942.6(TRAPPC11):c.2286C>T (p.Pro762=)	LOC126807238, TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 656089	NM_021942.6(TRAPPC11):c.2242A>G (p.Ile748Val)	LOC126807238, TRAPPC11 (I748V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 650502	NM_021942.6(TRAPPC11):c.2306T>C (p.Met769Thr)	LOC126807238, TRAPPC11 (M769T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 578306	NM_021942.6(TRAPPC11):c.2399A>G (p.Asn800Ser)	LOC126807238, TRAPPC11 (N800S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18 +2 more	GUncertain significance
Select item 548541	NM_021942.6(TRAPPC11):c.581A>G (p.Glu194Gly)	TRAPPC11 (E194G)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance

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