ClinVar for MedGen (Select 1385598) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3020847	NM_021942.6(TRAPPC11):c.2127T>A (p.Asp709Glu)	TRAPPC11 (D709E)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 3012928	NM_021942.6(TRAPPC11):c.1302T>C (p.Thr434=)	TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 3012884	NM_021942.6(TRAPPC11):c.204+10T>C	TRAPPC11	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
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 3005304	NM_021942.6(TRAPPC11):c.1486T>C (p.Leu496=)	TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2996087	NM_021942.6(TRAPPC11):c.1764G>A (p.Val588=)	TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2993720	NM_021942.6(TRAPPC11):c.527C>T (p.Pro176Leu)	TRAPPC11 (P176L)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2992464	NM_021942.6(TRAPPC11):c.2958G>A (p.Trp986Ter)	TRAPPC11 (W986*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type R18	GPathogenic
Select item 2989299	NM_021942.6(TRAPPC11):c.1268A>G (p.Glu423Gly)	TRAPPC11 (E423G)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
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 2979448	NM_021942.6(TRAPPC11):c.1366+14A>G	TRAPPC11	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2958873	NM_021942.6(TRAPPC11):c.24C>A (p.Phe8Leu)	TRAPPC11 (F8L)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2956400	NM_021942.6(TRAPPC11):c.1894-20C>A	TRAPPC11	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2913644	NM_021942.6(TRAPPC11):c.147A>G (p.Val49=)	TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2913127	NM_021942.6(TRAPPC11):c.734+21_734+24del	TRAPPC11	Deletion (intron 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 2905832	NM_021942.6(TRAPPC11):c.2694+20A>G	TRAPPC11	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2905458	NM_021942.6(TRAPPC11):c.201C>G (p.Pro67=)	TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2903670	NM_021942.6(TRAPPC11):c.965+1G>A	TRAPPC11	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely pathogenic
Select item 2886836	NM_021942.6(TRAPPC11):c.1568-11C>T	TRAPPC11	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2878897	NM_021942.6(TRAPPC11):c.965+12A>G	TRAPPC11	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2878154	NM_021942.6(TRAPPC11):c.2629-18C>G	TRAPPC11	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2877361	NM_021942.6(TRAPPC11):c.1421+8C>T	TRAPPC11	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2864958	NM_021942.6(TRAPPC11):c.1236A>G (p.Glu412=)	TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2858941	NM_021942.6(TRAPPC11):c.725del (p.Asn242fs)	TRAPPC11 (N242fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GPathogenic
Select item 2857932	NM_021942.6(TRAPPC11):c.3183C>T (p.Leu1061=)	TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2850813	NM_021942.6(TRAPPC11):c.666_669del (p.Phe223fs)	TRAPPC11 (F223fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GPathogenic
Select item 2843954	NM_021942.6(TRAPPC11):c.1372C>A (p.Gln458Lys)	TRAPPC11 (Q458K)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2835244	NM_021942.6(TRAPPC11):c.627T>A (p.Ser209=)	TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2828530	NM_021942.6(TRAPPC11):c.966-9T>G	TRAPPC11	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2815531	NM_021942.6(TRAPPC11):c.3145T>C (p.Ser1049Pro)	TRAPPC11 (S1049P)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2810365	NM_021942.6(TRAPPC11):c.1131del (p.Asn378fs)	TRAPPC11 (N378fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GPathogenic
Select item 2798786	NM_021942.6(TRAPPC11):c.795G>A (p.Leu265=)	TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2788481	NM_021942.6(TRAPPC11):c.2550C>T (p.Ser850=)	TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2782175	NM_021942.6(TRAPPC11):c.665T>C (p.Leu222Ser)	TRAPPC11 (L222S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2769907	NM_021942.6(TRAPPC11):c.831+16C>T	TRAPPC11	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2768542	NM_021942.6(TRAPPC11):c.2904A>C (p.Pro968=)	TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2764743	NM_021942.6(TRAPPC11):c.540C>T (p.His180=)	TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2761295	NM_021942.6(TRAPPC11):c.2695-17A>G	TRAPPC11	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2759275	NM_021942.6(TRAPPC11):c.2822T>A (p.Val941Glu)	TRAPPC11 (V941E)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2756727	NM_021942.6(TRAPPC11):c.1816C>T (p.Gln606Ter)	TRAPPC11 (Q606*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type R18	GPathogenic
Select item 2742225	NM_021942.6(TRAPPC11):c.3357+9T>G	TRAPPC11	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2739885	NM_021942.6(TRAPPC11):c.1421+14A>G	TRAPPC11	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2735439	NM_021942.6(TRAPPC11):c.374+1G>A	TRAPPC11	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely pathogenic
Select item 2731410	NM_021942.6(TRAPPC11):c.1653C>T (p.Pro551=)	TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2729318	NM_021942.6(TRAPPC11):c.793C>T (p.Leu265=)	TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2729079	NM_021942.6(TRAPPC11):c.2173del (p.Arg725fs)	TRAPPC11 (R725fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GPathogenic
Select item 2725884	NM_021942.6(TRAPPC11):c.204+13T>G	TRAPPC11	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2724773	NM_021942.6(TRAPPC11):c.3120C>T (p.Thr1040=)	TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2724297	NM_021942.6(TRAPPC11):c.1866C>T (p.Ser622=)	TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2722407	NM_021942.6(TRAPPC11):c.2694+16G>T	TRAPPC11	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2721565	NM_021942.6(TRAPPC11):c.288G>A (p.Leu96=)	TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2718622	NM_021942.6(TRAPPC11):c.2985C>A (p.Ile995=)	TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2718370	NM_021942.6(TRAPPC11):c.1894-17del	TRAPPC11	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GBenign
Select item 2714798	NM_021942.6(TRAPPC11):c.1422-17A>G	TRAPPC11	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2710184	NM_021942.6(TRAPPC11):c.2049+10del	TRAPPC11	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2706903	NM_021942.6(TRAPPC11):c.3023T>C (p.Ile1008Thr)	TRAPPC11 (I1008T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2690264	NM_021942.6(TRAPPC11):c.2989A>G (p.Ile997Val)	TRAPPC11 (I997V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
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 2580783	NM_021942.6(TRAPPC11):c.1522C>T (p.Gln508Ter)	TRAPPC11 (Q508*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type R18 +1 more	GPathogenic/Likely pathogenic
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 2437244	NM_021942.6(TRAPPC11):c.1353G>T (p.Met451Ile)	TRAPPC11 (M451I)	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 2437240	NM_021942.6(TRAPPC11):c.1493C>G (p.Thr498Arg)	TRAPPC11 (T498R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18 +1 more	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 2437232	NM_021942.6(TRAPPC11):c.830A>G (p.Lys277Arg)	TRAPPC11 (K277R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18 +1 more	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 2428155	NM_021942.6(TRAPPC11):c.1894-12C>G	TRAPPC11	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2426696	NC_000004.11:g.(?_184585021)_(184585244_?)dup	TRAPPC11	Duplication	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2426695	NC_000004.11:g.(?_184585021)_(184585244_?)del	TRAPPC11	Deletion	Autosomal recessive limb-girdle muscular dystrophy type R18	GPathogenic
Select item 2420728	NM_021942.6(TRAPPC11):c.2545G>A (p.Gly849Ser)	TRAPPC11 (G849S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2418901	NM_021942.6(TRAPPC11):c.1702C>T (p.Arg568Ter)	TRAPPC11 (R568*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type R18	GPathogenic
Select item 2417212	NM_021942.6(TRAPPC11):c.135A>G (p.Arg45=)	TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18 +1 more	GLikely benign
Select item 2417043	NM_021942.6(TRAPPC11):c.2569G>A (p.Val857Ile)	TRAPPC11 (V857I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2286698	NM_021942.6(TRAPPC11):c.1079G>A (p.Arg360Gln)	TRAPPC11 (R360Q)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18 +1 more	GUncertain significance
Select item 2202483	NM_021942.6(TRAPPC11):c.3384C>T (p.Thr1128=)	TRAPPC11	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2200942	NM_021942.6(TRAPPC11):c.806C>G (p.Thr269Ser)	TRAPPC11 (T269S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2200360	NM_021942.6(TRAPPC11):c.874A>G (p.Ile292Val)	TRAPPC11 (I292V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2196860	NM_021942.6(TRAPPC11):c.1282C>T (p.His428Tyr)	TRAPPC11 (H428Y)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2196564	NM_021942.6(TRAPPC11):c.358A>G (p.Arg120Gly)	TRAPPC11 (R120G)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2195952	NM_021942.6(TRAPPC11):c.1575T>A (p.Thr525=)	TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
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 2193587	NM_021942.6(TRAPPC11):c.3242A>G (p.Tyr1081Cys)	TRAPPC11 (Y1081C)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance
Select item 2189639	NM_021942.6(TRAPPC11):c.279G>A (p.Val93=)	TRAPPC11	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GLikely benign
Select item 2187756	NM_021942.6(TRAPPC11):c.53C>T (p.Ala18Val)	TRAPPC11 (A18V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type R18	GUncertain significance

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