ClinVar for Gene (Select 60684) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379570	NM_021942.6(TRAPPC11):c.170C>T (p.Pro57Leu)	TRAPPC11 (P57L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372641	NM_021942.6(TRAPPC11):c.110G>C (p.Trp37Ser)	TRAPPC11 (W37S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364628	NM_021942.6(TRAPPC11):c.1792A>G (p.Ser598Gly)	TRAPPC11 (S598G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3328521	NM_021942.6(TRAPPC11):c.1528A>G (p.Lys510Glu)	TRAPPC11 (K510E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246687	NC_000004.11:g.(?_184615786)_(184627497_?)del	TRAPPC11	Deletion	Autosomal recessive limb-girdle muscular dystrophy type R18	GPathogenic
Select item 3181962	NM_021942.6(TRAPPC11):c.3127G>A (p.Val1043Ile)	TRAPPC11 (V1043I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181961	NM_021942.6(TRAPPC11):c.3105C>G (p.His1035Gln)	TRAPPC11 (H1035Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3181958	NM_021942.6(TRAPPC11):c.1781T>G (p.Phe594Cys)	TRAPPC11 (F594C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067712	NM_021942.6(TRAPPC11):c.178C>G (p.His60Asp)	TRAPPC11 (H60D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	not specified	GPathogenic
Select item 3062775	GRCh37/hg19 4q34.1-35.1(chr4:175496275-186495932)x1	ACSL1, ADAM29 +34 more	Copy number loss	not specified	GPathogenic
Select item 3062773	GRCh37/hg19 4q35.1(chr4:184577681-186368031)x3	ACSL1, ANKRD37 +16 more	Copy number gain	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3033389	NM_021942.6(TRAPPC11):c.2851+7C>G	TRAPPC11	Single nucleotide variant (intron variant)	TRAPPC11-related disorder	GLikely benign
Select item 3024634	GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	ENPP6, F11 +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
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 2691296	NM_021942.6(TRAPPC11):c.2125_2126insGAC (p.Asp709delinsGlyHis)	TRAPPC11	Insertion (inframe_indel)	not specified	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 2685134	GRCh37/hg19 4q33-35.1(chr4:171476330-184998011)x1	GLRA3, GPM6A +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 2684399	GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3	AADAT, ACSL1 +69 more	Copy number gain	not provided	GPathogenic
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 2682875	NM_021942.6(TRAPPC11):c.1186T>C (p.Ser396Pro)	TRAPPC11 (S396P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2673001	NM_021942.6(TRAPPC11):c.126A>T (p.Ala42=)	TRAPPC11	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2671582	Single allele	MTNR1A, PDLIM3 +36 more	Deletion	not provided	GPathogenic
Select item 2628747	NM_021942.6(TRAPPC11):c.2993dup (p.Thr999fs)	TRAPPC11 (T999fs)	Duplication (frameshift variant)	TRAPPC11-related disorder	GLikely pathogenic
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 2604531	NM_021942.6(TRAPPC11):c.557T>C (p.Ile186Thr)	TRAPPC11 (I186T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603855	NM_021942.6(TRAPPC11):c.445+4T>A	TRAPPC11	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2602882	NM_021942.6(TRAPPC11):c.2744C>T (p.Thr915Met)	TRAPPC11 (T915M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580783	NM_021942.6(TRAPPC11):c.1522C>T (p.Gln508Ter)	TRAPPC11 (Q508*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2572891	NM_021942.6(TRAPPC11):c.686A>G (p.Lys229Arg)	TRAPPC11 (K229R)	Single nucleotide variant (missense variant)	not provided	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 2550917	NM_021942.6(TRAPPC11):c.1747G>A (p.Asp583Asn)	TRAPPC11 (D583N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529841	NM_021942.6(TRAPPC11):c.979G>C (p.Gly327Arg)	TRAPPC11 (G327R)	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 2521265	NM_021942.6(TRAPPC11):c.1214A>G (p.Asp405Gly)	TRAPPC11 (D405G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517027	NM_021942.6(TRAPPC11):c.1217T>G (p.Leu406Arg)	TRAPPC11 (L406R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501243	NM_021942.6(TRAPPC11):c.2753dup (p.Leu918fs)	TRAPPC11 (L918fs)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy	GLikely pathogenic
Select item 2498964	NM_021942.6(TRAPPC11):c.266A>G (p.His89Arg)	TRAPPC11 (H89R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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