ClinVar for MedGen (Select 1385598) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 707

<< First< Prev

Page of 8

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24372491.	NM_021942.6(TRAPPC11):c.208A>G (p.Thr70Ala) GRCh37: Chr4:184587413 GRCh38: Chr4:183666260	TRAPPC11	T70A	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Jan 25, 2022)	criteria provided, single submitter
Select item 24372482.	NM_021942.6(TRAPPC11):c.3032A>C (p.Asn1011Thr) GRCh37: Chr4:184626200 GRCh38: Chr4:183705047	TRAPPC11	N1011T	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Jan 7, 2022)	criteria provided, single submitter
Select item 24372473.	NM_021942.6(TRAPPC11):c.533C>T (p.Thr178Ile) GRCh37: Chr4:184589243 GRCh38: Chr4:183668090	TRAPPC11	T178I	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Mar 10, 2021)	criteria provided, single submitter
Select item 24372464.	NM_021942.6(TRAPPC11):c.2123G>A (p.Gly708Glu) GRCh37: Chr4:184614186 GRCh38: Chr4:183693033	TRAPPC11	G708E	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Oct 29, 2020)	criteria provided, single submitter
Select item 24372455.	NM_021942.6(TRAPPC11):c.1322C>T (p.Ala441Val) GRCh37: Chr4:184605332 GRCh38: Chr4:183684179	TRAPPC11	A441V	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Dec 24, 2019)	criteria provided, single submitter
Select item 24372446.	NM_021942.6(TRAPPC11):c.1353G>T (p.Met451Ile) GRCh37: Chr4:184605363 GRCh38: Chr4:183684210	TRAPPC11	M451I	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Mar 11, 2019)	criteria provided, single submitter
Select item 24372437.	NM_021942.6(TRAPPC11):c.1451G>A (p.Arg484Gln) GRCh37: Chr4:184605878 GRCh38: Chr4:183684725	TRAPPC11	R484Q	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Feb 19, 2020)	criteria provided, single submitter
Select item 24372428.	NM_021942.6(TRAPPC11):c.1724A>G (p.Asn575Ser) GRCh37: Chr4:184606518 GRCh38: Chr4:183685365	TRAPPC11	N575S	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Jul 16, 2019)	criteria provided, single submitter
Select item 24372419.	NM_021942.6(TRAPPC11):c.2966C>T (p.Thr989Ile) GRCh37: Chr4:184626134 GRCh38: Chr4:183704981	TRAPPC11	T989I	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Mar 11, 2021)	criteria provided, single submitter
Select item 243724010.	NM_021942.6(TRAPPC11):c.1493C>G (p.Thr498Arg) GRCh37: Chr4:184605920 GRCh38: Chr4:183684767	TRAPPC11	T498R	Autosomal recessive limb-girdle muscular dystrophy type R18, Inborn genetic diseases	Uncertain significance (Feb 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 243723911.	NM_021942.6(TRAPPC11):c.3377A>G (p.Asp1126Gly) GRCh37: Chr4:184633772 GRCh38: Chr4:183712619	TRAPPC11	D1126G	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Jul 8, 2019)	criteria provided, single submitter
Select item 243723812.	NM_021942.6(TRAPPC11):c.2609T>C (p.Ile870Thr) GRCh37: Chr4:184615857 GRCh38: Chr4:183694704	TRAPPC11	I870T	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Mar 24, 2021)	criteria provided, single submitter
Select item 243723713.	NM_021942.6(TRAPPC11):c.3242A>C (p.Tyr1081Ser) GRCh37: Chr4:184629612 GRCh38: Chr4:183708459	TRAPPC11	Y1081S	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Nov 7, 2019)	criteria provided, single submitter
Select item 243723614.	NM_021942.6(TRAPPC11):c.2393A>G (p.Asp798Gly) GRCh37: Chr4:184615076 GRCh38: Chr4:183693923	LOC126807238, TRAPPC11	D798G	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (May 2, 2019)	criteria provided, single submitter
Select item 243723515.	NM_021942.6(TRAPPC11):c.2112G>C (p.Gln704His) GRCh37: Chr4:184614175 GRCh38: Chr4:183693022	TRAPPC11	Q704H	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Aug 26, 2022)	criteria provided, single submitter
Select item 243723416.	NM_021942.6(TRAPPC11):c.895A>G (p.Ile299Val) GRCh37: Chr4:184600569 GRCh38: Chr4:183679416	TRAPPC11	I299V	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Dec 14, 2020)	criteria provided, single submitter
Select item 243723317.	NM_021942.6(TRAPPC11):c.1081A>C (p.Lys361Gln) GRCh37: Chr4:184601388 GRCh38: Chr4:183680235	TRAPPC11	K361Q	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Feb 21, 2021)	criteria provided, single submitter
Select item 243723218.	NM_021942.6(TRAPPC11):c.830A>G (p.Lys277Arg) GRCh37: Chr4:184598706 GRCh38: Chr4:183677553	TRAPPC11	K277R	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Nov 2, 2020)	criteria provided, single submitter
Select item 243723119.	NM_021942.6(TRAPPC11):c.2875G>A (p.Ala959Thr) GRCh37: Chr4:184622873 GRCh38: Chr4:183701720	TRAPPC11	A959T	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Sep 14, 2020)	criteria provided, single submitter
Select item 243723020.	NM_021942.6(TRAPPC11):c.728C>T (p.Ala243Val) GRCh37: Chr4:184596384 GRCh38: Chr4:183675231	TRAPPC11	A243V	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Jul 20, 2020)	criteria provided, single submitter
Select item 243722921.	NM_021942.6(TRAPPC11):c.329G>T (p.Trp110Leu) GRCh37: Chr4:184587534 GRCh38: Chr4:183666381	TRAPPC11	W110L	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Mar 29, 2019)	criteria provided, single submitter
Select item 242815522.	NM_021942.6(TRAPPC11):c.1894-12C>G GRCh37: Chr4:184612457 GRCh38: Chr4:183691304	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 242669623.	NC_000004.11:g.(?_184585021)_(184585244_?)dup GRCh37: Chr4:184585021-184585244	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 242669524.	NC_000004.11:g.(?_184585021)_(184585244_?)del GRCh37: Chr4:184585021-184585244	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 242072825.	NM_021942.6(TRAPPC11):c.2545G>A (p.Gly849Ser) GRCh37: Chr4:184615793 GRCh38: Chr4:183694640	TRAPPC11	G849S	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 241890126.	NM_021942.6(TRAPPC11):c.1702C>T (p.Arg568Ter) GRCh37: Chr4:184606496 GRCh38: Chr4:183685343	TRAPPC11	R568*	Autosomal recessive limb-girdle muscular dystrophy type R18	Pathogenic (Jul 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 241721227.	NM_021942.6(TRAPPC11):c.135A>G (p.Arg45=) GRCh37: Chr4:184585155 GRCh38: Chr4:183664002	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 241704328.	NM_021942.6(TRAPPC11):c.2569G>A (p.Val857Ile) GRCh37: Chr4:184615817 GRCh38: Chr4:183694664	TRAPPC11	V857I	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 228669829.	NM_021942.6(TRAPPC11):c.1079G>A (p.Arg360Gln) GRCh37: Chr4:184601386 GRCh38: Chr4:183680233	TRAPPC11	R360Q	Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Sep 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220248330.	NM_021942.6(TRAPPC11):c.3384C>T (p.Thr1128=) GRCh37: Chr4:184633779 GRCh38: Chr4:183712626	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 220094231.	NM_021942.6(TRAPPC11):c.806C>G (p.Thr269Ser) GRCh37: Chr4:184598682 GRCh38: Chr4:183677529	TRAPPC11	T269S	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 220036032.	NM_021942.6(TRAPPC11):c.874A>G (p.Ile292Val) GRCh37: Chr4:184600548 GRCh38: Chr4:183679395	TRAPPC11	I292V	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 219686033.	NM_021942.6(TRAPPC11):c.1282C>T (p.His428Tyr) GRCh37: Chr4:184605202 GRCh38: Chr4:183684049	TRAPPC11	H428Y	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Jan 13, 2022)	criteria provided, single submitter
Select item 219656434.	NM_021942.6(TRAPPC11):c.358A>G (p.Arg120Gly) GRCh37: Chr4:184587563 GRCh38: Chr4:183666410	TRAPPC11	R120G	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 219595235.	NM_021942.6(TRAPPC11):c.1575T>A (p.Thr525=) GRCh37: Chr4:184606244 GRCh38: Chr4:183685091	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 219559136.	NM_021942.6(TRAPPC11):c.2292A>G (p.Ala764=) GRCh37: Chr4:184614796 GRCh38: Chr4:183693643	LOC126807238, TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 219358737.	NM_021942.6(TRAPPC11):c.3242A>G (p.Tyr1081Cys) GRCh37: Chr4:184629612 GRCh38: Chr4:183708459	TRAPPC11	Y1081C	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 218963938.	NM_021942.6(TRAPPC11):c.279G>A (p.Val93=) GRCh37: Chr4:184587484 GRCh38: Chr4:183666331	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 218775639.	NM_021942.6(TRAPPC11):c.53C>T (p.Ala18Val) GRCh37: Chr4:184585073 GRCh38: Chr4:183663920	TRAPPC11	A18V	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 218695640.	NM_021942.6(TRAPPC11):c.2174G>A (p.Arg725Lys) GRCh37: Chr4:184614237 GRCh38: Chr4:183693084	TRAPPC11	R725K	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 218352141.	NM_021942.6(TRAPPC11):c.1893+18T>C GRCh37: Chr4:184607919 GRCh38: Chr4:183686766	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 218237942.	NM_021942.6(TRAPPC11):c.2238-17A>G GRCh37: Chr4:184614725 GRCh38: Chr4:183693572	LOC126807238, TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 218132843.	NM_021942.6(TRAPPC11):c.1175A>G (p.Tyr392Cys) GRCh37: Chr4:184603946 GRCh38: Chr4:183682793	TRAPPC11	Y392C	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Sep 25, 2022)	criteria provided, single submitter
Select item 218080044.	NM_021942.6(TRAPPC11):c.751T>C (p.Tyr251His) GRCh37: Chr4:184598627 GRCh38: Chr4:183677474	TRAPPC11	Y251H	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 217720045.	NM_021942.6(TRAPPC11):c.162G>C (p.Lys54Asn) GRCh37: Chr4:184585182 GRCh38: Chr4:183664029	TRAPPC11	K54N	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 217604046.	NM_021942.6(TRAPPC11):c.1365A>G (p.Leu455=) GRCh37: Chr4:184605375 GRCh38: Chr4:183684222	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 217507947.	NM_021942.6(TRAPPC11):c.384A>G (p.Leu128=) GRCh37: Chr4:184588222 GRCh38: Chr4:183667069	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 217094048.	NM_021942.6(TRAPPC11):c.2386+18dup GRCh37: Chr4:184614907-184614908 GRCh38: Chr4:183693754-183693755	LOC126807238, TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 216986849.	NM_021942.6(TRAPPC11):c.1572A>G (p.Ser524=) GRCh37: Chr4:184606241 GRCh38: Chr4:183685088	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 216841950.	NM_021942.6(TRAPPC11):c.804G>A (p.Lys268=) GRCh37: Chr4:184598680 GRCh38: Chr4:183677527	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 216820351.	NM_021942.6(TRAPPC11):c.660+19T>A GRCh37: Chr4:184595984 GRCh38: Chr4:183674831	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 216780552.	NM_021942.6(TRAPPC11):c.1876G>A (p.Val626Ile) GRCh37: Chr4:184607884 GRCh38: Chr4:183686731	TRAPPC11	V626I	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 216670353.	NM_021942.6(TRAPPC11):c.3306C>T (p.Asn1102=) GRCh37: Chr4:184629676 GRCh38: Chr4:183708523	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 216598454.	NM_021942.6(TRAPPC11):c.1630-14C>T GRCh37: Chr4:184606410 GRCh38: Chr4:183685257	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 216589955.	NM_021942.6(TRAPPC11):c.1646C>T (p.Pro549Leu) GRCh37: Chr4:184606440 GRCh38: Chr4:183685287	TRAPPC11	P549L	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Aug 4, 2022)	criteria provided, single submitter
Select item 216498956.	NM_021942.6(TRAPPC11):c.1146A>G (p.Leu382=) GRCh37: Chr4:184603917 GRCh38: Chr4:183682764	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 215826257.	NM_021942.6(TRAPPC11):c.2281G>A (p.Glu761Lys) GRCh37: Chr4:184614785 GRCh38: Chr4:183693632	LOC126807238, TRAPPC11	E761K	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 215820958.	NM_021942.6(TRAPPC11):c.2874T>G (p.Ser958Arg) GRCh37: Chr4:184622872 GRCh38: Chr4:183701719	TRAPPC11	S958R	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 215774959.	NM_021942.6(TRAPPC11):c.3225A>T (p.Glu1075Asp) GRCh37: Chr4:184629595 GRCh38: Chr4:183708442	TRAPPC11	E1075D	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 215704760.	NM_021942.6(TRAPPC11):c.808A>G (p.Met270Val) GRCh37: Chr4:184598684 GRCh38: Chr4:183677531	TRAPPC11	M270V	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Oct 16, 2022)	criteria provided, single submitter
Select item 215691761.	NM_021942.6(TRAPPC11):c.2059G>T (p.Val687Leu) GRCh37: Chr4:184614122 GRCh38: Chr4:183692969	TRAPPC11	V687L	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 215650462.	NM_021942.6(TRAPPC11):c.2320G>A (p.Val774Met) GRCh37: Chr4:184614824 GRCh38: Chr4:183693671	LOC126807238, TRAPPC11	V774M	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 215491363.	NM_021942.6(TRAPPC11):c.1409C>G (p.Thr470Ser) GRCh37: Chr4:184605500 GRCh38: Chr4:183684347	TRAPPC11	T470S	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 215405864.	NM_021942.6(TRAPPC11):c.1287+14C>A GRCh37: Chr4:184605221 GRCh38: Chr4:183684068	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Likely benign (Sep 3, 2021)	criteria provided, single submitter
Select item 215193965.	NM_021942.6(TRAPPC11):c.1544A>C (p.Tyr515Ser) GRCh37: Chr4:184605971 GRCh38: Chr4:183684818	TRAPPC11	Y515S	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Jan 2, 2022)	criteria provided, single submitter
Select item 215060966.	NM_021942.6(TRAPPC11):c.1206A>G (p.Leu402=) GRCh37: Chr4:184603977 GRCh38: Chr4:183682824	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 214890167.	NM_021942.6(TRAPPC11):c.1618A>T (p.Asn540Tyr) GRCh37: Chr4:184606287 GRCh38: Chr4:183685134	TRAPPC11	N540Y	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 214843868.	NM_021942.6(TRAPPC11):c.2785T>A (p.Ser929Thr) GRCh37: Chr4:184618922 GRCh38: Chr4:183697769	TRAPPC11	S929T	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 214832069.	NM_021942.6(TRAPPC11):c.2165C>G (p.Ser722Cys) GRCh37: Chr4:184614228 GRCh38: Chr4:183693075	TRAPPC11	S722C	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Jun 16, 2022)	criteria provided, single submitter
Select item 214758470.	NM_021942.6(TRAPPC11):c.2593G>A (p.Val865Ile) GRCh37: Chr4:184615841 GRCh38: Chr4:183694688	TRAPPC11	V865I	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Dec 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 214684771.	NM_021942.6(TRAPPC11):c.3309C>A (p.Phe1103Leu) GRCh37: Chr4:184629679 GRCh38: Chr4:183708526	TRAPPC11	F1103L	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 214658872.	NM_021942.6(TRAPPC11):c.1450C>T (p.Arg484Trp) GRCh37: Chr4:184605877 GRCh38: Chr4:183684724	TRAPPC11	R484W	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 214389273.	NM_021942.6(TRAPPC11):c.660+16C>T GRCh37: Chr4:184595981 GRCh38: Chr4:183674828	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 214182974.	NM_021942.6(TRAPPC11):c.1637G>A (p.Ser546Asn) GRCh37: Chr4:184606431 GRCh38: Chr4:183685278	TRAPPC11	S546N	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 214126875.	NM_021942.6(TRAPPC11):c.913_914del (p.Lys305fs) GRCh37: Chr4:184600584-184600585 GRCh38: Chr4:183679431-183679432	TRAPPC11	K305fs	Autosomal recessive limb-girdle muscular dystrophy type R18	Pathogenic (Apr 6, 2022)	criteria provided, single submitter
Select item 213962176.	NM_021942.6(TRAPPC11):c.1179A>G (p.Gly393=) GRCh37: Chr4:184603950 GRCh38: Chr4:183682797	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 213567177.	NM_021942.6(TRAPPC11):c.370del (p.Val124fs) GRCh37: Chr4:184587575 GRCh38: Chr4:183666422	TRAPPC11	V124fs	Autosomal recessive limb-girdle muscular dystrophy type R18	Pathogenic (May 8, 2022)	criteria provided, single submitter
Select item 213320878.	NM_021942.6(TRAPPC11):c.2029G>C (p.Asp677His) GRCh37: Chr4:184612604 GRCh38: Chr4:183691451	TRAPPC11	D677H	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 213287179.	NM_021942.6(TRAPPC11):c.2851+19C>T GRCh37: Chr4:184619007 GRCh38: Chr4:183697854	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 213077580.	NM_021942.6(TRAPPC11):c.1629+8G>A GRCh37: Chr4:184606306 GRCh38: Chr4:183685153	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 212996881.	NM_021942.6(TRAPPC11):c.1689G>T (p.Lys563Asn) GRCh37: Chr4:184606483 GRCh38: Chr4:183685330	TRAPPC11	K563N	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 212927282.	NM_021942.6(TRAPPC11):c.494G>A (p.Cys165Tyr) GRCh37: Chr4:184589204 GRCh38: Chr4:183668051	TRAPPC11	C165Y	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 212810683.	NM_021942.6(TRAPPC11):c.2937C>G (p.Thr979=) GRCh37: Chr4:184622935 GRCh38: Chr4:183701782	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 212804184.	NM_021942.6(TRAPPC11):c.52G>A (p.Ala18Thr) GRCh37: Chr4:184585072 GRCh38: Chr4:183663919	TRAPPC11	A18T	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 212437485.	NM_021942.6(TRAPPC11):c.2266G>A (p.Val756Ile) GRCh37: Chr4:184614770 GRCh38: Chr4:183693617	LOC126807238, TRAPPC11	V756I	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 212437186.	NM_021942.6(TRAPPC11):c.1801G>T (p.Val601Phe) GRCh37: Chr4:184607809 GRCh38: Chr4:183686656	TRAPPC11	V601F	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 212216287.	NM_021942.6(TRAPPC11):c.2628+10T>C GRCh37: Chr4:184615886 GRCh38: Chr4:183694733	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 212192788.	NM_021942.6(TRAPPC11):c.1011G>A (p.Gly337=) GRCh37: Chr4:184601318 GRCh38: Chr4:183680165	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 212088289.	NM_021942.6(TRAPPC11):c.446-4A>C GRCh37: Chr4:184589152 GRCh38: Chr4:183667999	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Apr 2, 2022)	criteria provided, single submitter
Select item 211812990.	NM_021942.6(TRAPPC11):c.2345C>T (p.Thr782Ile) GRCh37: Chr4:184614849 GRCh38: Chr4:183693696	LOC126807238, TRAPPC11	T782I	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 210648891.	NM_021942.6(TRAPPC11):c.1276GTT[1] (p.Val427del) GRCh37: Chr4:184605195-184605197 GRCh38: Chr4:183684042-183684044	TRAPPC11	V427del	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 210450792.	NM_021942.6(TRAPPC11):c.1114-17T>C GRCh37: Chr4:184603868 GRCh38: Chr4:183682715	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 210307393.	NM_021942.6(TRAPPC11):c.1366+1G>A GRCh37: Chr4:184605377 GRCh38: Chr4:183684224	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Likely pathogenic (Mar 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 210023694.	NM_021942.6(TRAPPC11):c.3055+20A>G GRCh37: Chr4:184626243 GRCh38: Chr4:183705090	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 209998295.	NM_021942.6(TRAPPC11):c.1736T>G (p.Ile579Arg) GRCh37: Chr4:184606530 GRCh38: Chr4:183685377	TRAPPC11	I579R	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 209571296.	NM_021942.6(TRAPPC11):c.3055+15A>G GRCh37: Chr4:184626238 GRCh38: Chr4:183705085	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 208755597.	NM_021942.6(TRAPPC11):c.680A>G (p.Gln227Arg) GRCh37: Chr4:184596336 GRCh38: Chr4:183675183	TRAPPC11	Q227R	Autosomal recessive limb-girdle muscular dystrophy type R18	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 208632298.	NM_021942.6(TRAPPC11):c.1366+16C>T GRCh37: Chr4:184605392 GRCh38: Chr4:183684239	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 208553999.	NM_021942.6(TRAPPC11):c.2832C>T (p.Leu944=) GRCh37: Chr4:184618969 GRCh38: Chr4:183697816	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Likely benign (Aug 17, 2022)	criteria provided, single submitter
Select item 2083481100.	NM_021942.6(TRAPPC11):c.1568-9T>C GRCh37: Chr4:184606228 GRCh38: Chr4:183685075	TRAPPC11		Autosomal recessive limb-girdle muscular dystrophy type R18	Likely benign (Jan 15, 2022)	criteria provided, single submitter

<< First< Prev

Page of 8