ClinVar for MedGen (Select 78548) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 2499

<< First< Prev

Page of 25

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25069671.	NM_031934.6(RAB34):c.691C>T (p.Arg231Ter) GRCh37: Chr17:27041832 GRCh38: Chr17:28714814	RAB34	R209, R223, R231, R280, R288*	Jeune thoracic dystrophy	Likely pathogenic (Jun 27, 2023)	criteria provided, single submitter
Select item 25069662.	NM_031934.6(RAB34):c.254T>C (p.Ile85Thr) GRCh37: Chr17:27042878 GRCh38: Chr17:28715860	RAB34	I142T, I143T, I63T, I85T	Jeune thoracic dystrophy	Likely pathogenic (Jun 27, 2023)	criteria provided, single submitter
Select item 24981303.	NM_024753.5(TTC21B):c.[2569G>A;3130_3131dup] GRCh37: Chr2:166758420 Chr2:166747120-166747121 GRCh38: Chr2:165901910 Chr2:165890610-165890611	TTC21B, TTC21B	A857T, H1045fs	Asphyxiating thoracic dystrophy 4	Likely pathogenic (Jun 18, 2021)	criteria provided, single submitter
Select item 24281834.	NM_020800.3(IFT80):c.736G>C (p.Val246Leu) GRCh37: Chr3:160073842 GRCh38: Chr3:160356054	TRIM59-IFT80, IFT80	V109L, V246L	Jeune thoracic dystrophy	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 24280655.	NM_024753.5(TTC21B):c.2444C>G (p.Ala815Gly) GRCh37: Chr2:166767854 GRCh38: Chr2:165911344	TTC21B	A815G	Jeune thoracic dystrophy, Nephronophthisis	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 24280016.	NM_001377.3(DYNC2H1):c.7368T>A (p.Asn2456Lys) GRCh37: Chr11:103060476 GRCh38: Chr11:103189747	DYNC2H1	N2456K	Jeune thoracic dystrophy	Uncertain significance (Mar 6, 2022)	criteria provided, single submitter
Select item 24268807.	NC_000002.11:g.(?_166744769)_(166747518_?)del GRCh37: Chr2:166744769-166747518	TTC21B		Jeune thoracic dystrophy, Nephronophthisis	Pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 24266028.	NC_000003.11:g.(?_159992649)_(160000363_?)del GRCh37: Chr3:159992649-160000363	IFT80		Jeune thoracic dystrophy	Likely pathogenic (Jul 13, 2022)	criteria provided, single submitter
Select item 24266019.	NC_000003.11:g.(?_159976313)_(160075386_?)dup GRCh37: Chr3:159976313-160075386	IFT80		Jeune thoracic dystrophy	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 242660010.	NC_000003.11:g.(?_159976313)_(160102388_?)dup GRCh37: Chr3:159976313-160102388	IFT80		Jeune thoracic dystrophy	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 242659911.	NC_000003.11:g.(?_160073781)_(160083960_?)del GRCh37: Chr3:160073781-160083960	IFT80		Jeune thoracic dystrophy	Pathogenic (Jun 25, 2022)	criteria provided, single submitter
Select item 242659812.	NC_000003.11:g.(?_160073781)_(160099532_?)del GRCh37: Chr3:160073781-160099532	IFT80		Jeune thoracic dystrophy	Pathogenic (Sep 2, 2022)	criteria provided, single submitter
Select item 242659713.	NC_000003.11:g.(?_160083811)_(160099532_?)del GRCh37: Chr3:160083811-160099532	IFT80		Jeune thoracic dystrophy	Pathogenic (Jul 21, 2022)	criteria provided, single submitter
Select item 242533814.	NM_001377.3(DYNC2H1):c.3408G>A (p.Glu1136=) GRCh37: Chr11:103025285 GRCh38: Chr11:103154556	DYNC2H1		Jeune thoracic dystrophy	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 242364915.	NC_000011.9:g.(?_102980304)_(103194738_?)dup GRCh37: Chr11:102980304-103194738	DYNC2H1		Jeune thoracic dystrophy	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 242364816.	NC_000011.9:g.(?_103039464)_(103041817_?)del GRCh37: Chr11:103039464-103041817	DYNC2H1		Jeune thoracic dystrophy	Pathogenic (Oct 5, 2022)	criteria provided, single submitter
Select item 242364717.	NC_000011.9:g.(?_103228951)_(103229107_?)del GRCh37: Chr11:103228951-103229107	DYNC2H1		Jeune thoracic dystrophy	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 242341518.	NM_024753.5(TTC21B):c.1725_1726del (p.Lys575fs) GRCh37: Chr2:166773940-166773941 GRCh38: Chr2:165917430-165917431	TTC21B	K575fs	Jeune thoracic dystrophy, Nephronophthisis	Pathogenic (Apr 17, 2022)	criteria provided, single submitter
Select item 242196119.	NM_020800.3(IFT80):c.2083C>G (p.Leu695Val) GRCh37: Chr3:159995110 GRCh38: Chr3:160277322	IFT80, TRIM59-IFT80	L558V, L695V	Jeune thoracic dystrophy	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 242156220.	NM_020800.3(IFT80):c.1001G>A (p.Arg334His) GRCh37: Chr3:160025526 GRCh38: Chr3:160307738	IFT80, TRIM59-IFT80	R197H, R334H	Jeune thoracic dystrophy	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 242122321.	NM_024753.5(TTC21B):c.1449T>C (p.Thr483=) GRCh37: Chr2:166781126 GRCh38: Chr2:165924616	TTC21B		Jeune thoracic dystrophy, Nephronophthisis	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 242121022.	NM_001377.3(DYNC2H1):c.1135-18T>C GRCh37: Chr11:102991400 GRCh38: Chr11:103120671	DYNC2H1		Jeune thoracic dystrophy	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 242113923.	NM_024753.5(TTC21B):c.3589G>C (p.Glu1197Gln) GRCh37: Chr2:166740399 GRCh38: Chr2:165883889	TTC21B	E1197Q	Jeune thoracic dystrophy, Nephronophthisis	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 241929424.	NM_024753.5(TTC21B):c.3246C>T (p.Asn1082=) GRCh37: Chr2:166747006 GRCh38: Chr2:165890496	TTC21B		Nephronophthisis, Jeune thoracic dystrophy	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 241873325.	NM_024753.5(TTC21B):c.737T>C (p.Val246Ala) GRCh37: Chr2:166789541 GRCh38: Chr2:165933031	TTC21B	V246A	Nephronophthisis, Jeune thoracic dystrophy	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 241838526.	NM_001377.3(DYNC2H1):c.11524C>T (p.Arg3842Cys) GRCh37: Chr11:103182637 GRCh38: Chr11:103311908	DYNC2H1	R3842C, R3849C	Jeune thoracic dystrophy	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 241770127.	NM_024753.5(TTC21B):c.410T>C (p.Ile137Thr) GRCh37: Chr2:166802053 GRCh38: Chr2:165945543	TTC21B, TTC21B-AS1	I137T	Nephronophthisis, Jeune thoracic dystrophy	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 241734528.	NM_001377.3(DYNC2H1):c.9187G>A (p.Val3063Ile) GRCh37: Chr11:103092838 GRCh38: Chr11:103222109	DYNC2H1	V3063I	Jeune thoracic dystrophy	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 241714529.	NM_024753.5(TTC21B):c.2635C>T (p.Gln879Ter) GRCh37: Chr2:166758354 GRCh38: Chr2:165901844	TTC21B	Q879*	Jeune thoracic dystrophy, Nephronophthisis	Pathogenic (Jun 1, 2022)	criteria provided, single submitter
Select item 241708030.	NM_024753.5(TTC21B):c.140del (p.Thr47fs) GRCh37: Chr2:166806116 GRCh38: Chr2:165949606	TTC21B	T47fs	Jeune thoracic dystrophy, Nephronophthisis	Pathogenic (Jun 1, 2022)	criteria provided, single submitter
Select item 241623831.	NM_001377.3(DYNC2H1):c.3302+7T>G GRCh37: Chr11:103024244 GRCh38: Chr11:103153515	DYNC2H1		Jeune thoracic dystrophy	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 241535932.	NM_001377.3(DYNC2H1):c.12831G>A (p.Arg4277=) GRCh37: Chr11:103349888 GRCh38: Chr11:103479160	DYNC2H1		Jeune thoracic dystrophy	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 241523333.	NM_020800.3(IFT80):c.650G>A (p.Ser217Asn) GRCh37: Chr3:160073928 GRCh38: Chr3:160356140	IFT80, TRIM59-IFT80	S217N, S80N	Jeune thoracic dystrophy	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 241500634.	NM_020800.3(IFT80):c.1926+11A>T GRCh37: Chr3:159995358 GRCh38: Chr3:160277570	IFT80, TRIM59-IFT80		Jeune thoracic dystrophy	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 241498635.	NM_001377.3(DYNC2H1):c.3574-17T>C GRCh37: Chr11:103026043 GRCh38: Chr11:103155314	DYNC2H1		Jeune thoracic dystrophy	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 241459436.	NM_024753.5(TTC21B):c.3466C>T (p.His1156Tyr) GRCh37: Chr2:166740522 GRCh38: Chr2:165884012	TTC21B	H1156Y	Nephronophthisis, Jeune thoracic dystrophy	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 241436537.	NM_020800.3(IFT80):c.1102A>G (p.Ile368Val) GRCh37: Chr3:160021752 GRCh38: Chr3:160303964	IFT80, TRIM59-IFT80	I231V, I368V	Jeune thoracic dystrophy	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 241376338.	NM_020800.3(IFT80):c.396T>C (p.Ile132=) GRCh37: Chr3:160093643 GRCh38: Chr3:160375855	IFT80, TRIM59-IFT80		Jeune thoracic dystrophy	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 241344139.	NM_001377.3(DYNC2H1):c.10462-4A>C GRCh37: Chr11:103128333 GRCh38: Chr11:103257604	DYNC2H1		Jeune thoracic dystrophy	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 241342840.	NM_001377.3(DYNC2H1):c.12457-4C>G GRCh37: Chr11:103325910 GRCh38: Chr11:103455182	DYNC2H1		Jeune thoracic dystrophy	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 241271541.	NM_001377.3(DYNC2H1):c.12542del (p.Asn4181fs) GRCh37: Chr11:103325998 GRCh38: Chr11:103455270	DYNC2H1	N4181fs, N4188fs	Jeune thoracic dystrophy	Likely pathogenic (Jan 25, 2023)	criteria provided, single submitter
Select item 220317042.	NM_024753.5(TTC21B):c.1040A>G (p.Tyr347Cys) GRCh37: Chr2:166786729 GRCh38: Chr2:165930219	TTC21B	Y347C	Jeune thoracic dystrophy, Nephronophthisis	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 220316843.	NM_024753.5(TTC21B):c.1276C>G (p.His426Asp) GRCh37: Chr2:166785755 GRCh38: Chr2:165929245	TTC21B	H426D	Jeune thoracic dystrophy, Nephronophthisis	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 220316744.	NM_024753.5(TTC21B):c.2263G>T (p.Asp755Tyr) GRCh37: Chr2:166769083 GRCh38: Chr2:165912573	TTC21B	D755Y	Jeune thoracic dystrophy, Nephronophthisis	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 220282545.	NM_001377.3(DYNC2H1):c.12790G>A (p.Asp4264Asn) GRCh37: Chr11:103349847 GRCh38: Chr11:103479119	DYNC2H1	D4264N, D4271N	Jeune thoracic dystrophy	Uncertain significance (Oct 28, 2021)	criteria provided, single submitter
Select item 220247146.	NM_001377.3(DYNC2H1):c.7437+8T>C GRCh37: Chr11:103060553 GRCh38: Chr11:103189824	DYNC2H1		Jeune thoracic dystrophy	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 220115347.	NM_020800.3(IFT80):c.2124C>G (p.Tyr708Ter) GRCh37: Chr3:159986300 GRCh38: Chr3:160268512	TRIM59-IFT80, IFT80	Y571, Y708	Jeune thoracic dystrophy	Pathogenic (Feb 10, 2022)	criteria provided, single submitter
Select item 220057748.	NM_001377.3(DYNC2H1):c.5559-19T>C GRCh37: Chr11:103044765 GRCh38: Chr11:103174036	DYNC2H1		Jeune thoracic dystrophy	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 220051349.	NM_001377.3(DYNC2H1):c.11257-11dup GRCh37: Chr11:103175306-103175307 GRCh38: Chr11:103304577-103304578	DYNC2H1		Jeune thoracic dystrophy	Benign (Sep 23, 2022)	criteria provided, single submitter
Select item 220049050.	NM_024753.5(TTC21B):c.2671G>A (p.Ala891Thr) GRCh37: Chr2:166758318 GRCh38: Chr2:165901808	TTC21B	A891T	Jeune thoracic dystrophy, Nephronophthisis	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 220048051.	NM_024753.5(TTC21B):c.263-16C>T GRCh37: Chr2:166802216 GRCh38: Chr2:165945706	TTC21B, TTC21B-AS1		Jeune thoracic dystrophy, Nephronophthisis	Likely benign (Jan 13, 2022)	criteria provided, single submitter
Select item 219972652.	NM_001377.3(DYNC2H1):c.11244G>A (p.Glu3748=) GRCh37: Chr11:103173970 GRCh38: Chr11:103303241	DYNC2H1		Jeune thoracic dystrophy	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 219958653.	NM_001377.3(DYNC2H1):c.8674A>C (p.Lys2892Gln) GRCh37: Chr11:103082652 GRCh38: Chr11:103211923	DYNC2H1	K2892Q	Jeune thoracic dystrophy	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 219928354.	NM_020800.3(IFT80):c.1507A>G (p.Ile503Val) GRCh37: Chr3:160000275 GRCh38: Chr3:160282487	IFT80, TRIM59-IFT80	I503V, I366V	Jeune thoracic dystrophy	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 219917455.	NM_020800.3(IFT80):c.1380+15C>T GRCh37: Chr3:160003577 GRCh38: Chr3:160285789	IFT80, TRIM59-IFT80		Jeune thoracic dystrophy	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 219911356.	NM_001377.3(DYNC2H1):c.9918+3A>G GRCh37: Chr11:103114523 GRCh38: Chr11:103243794	DYNC2H1		Jeune thoracic dystrophy	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 219879857.	NM_001377.3(DYNC2H1):c.8010C>T (p.His2670=) GRCh37: Chr11:103070127 GRCh38: Chr11:103199398	DYNC2H1		Jeune thoracic dystrophy	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 219839758.	NM_001377.3(DYNC2H1):c.4491+16T>C GRCh37: Chr11:103031789 GRCh38: Chr11:103161060	DYNC2H1		Jeune thoracic dystrophy	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 219826259.	NM_001377.3(DYNC2H1):c.7273G>A (p.Val2425Ile) GRCh37: Chr11:103059358 GRCh38: Chr11:103188629	DYNC2H1	V2425I	Jeune thoracic dystrophy	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 219815860.	NM_001377.3(DYNC2H1):c.11383-7A>G GRCh37: Chr11:103178443 GRCh38: Chr11:103307714	DYNC2H1		Jeune thoracic dystrophy	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 219792761.	NM_001377.3(DYNC2H1):c.7148C>T (p.Thr2383Met) GRCh37: Chr11:103059233 GRCh38: Chr11:103188504	DYNC2H1	T2383M	Jeune thoracic dystrophy	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 219787862.	NM_001377.3(DYNC2H1):c.1486-20C>T GRCh37: Chr11:102993534 GRCh38: Chr11:103122805	DYNC2H1		Jeune thoracic dystrophy	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 219755563.	NM_001377.3(DYNC2H1):c.9380A>G (p.Lys3127Arg) GRCh37: Chr11:103102015 GRCh38: Chr11:103231286	DYNC2H1	K3127R	Jeune thoracic dystrophy	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 219715464.	NM_001377.3(DYNC2H1):c.3666G>T (p.Gly1222=) GRCh37: Chr11:103026152 GRCh38: Chr11:103155423	DYNC2H1		Jeune thoracic dystrophy	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 219711765.	NM_001377.3(DYNC2H1):c.12577C>T (p.Arg4193Cys) GRCh37: Chr11:103327013 GRCh38: Chr11:103456285	DYNC2H1	R4193C, R4200C	Jeune thoracic dystrophy	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 219701166.	NM_024753.5(TTC21B):c.2211+14T>C GRCh37: Chr2:166770070 GRCh38: Chr2:165913560	TTC21B		Jeune thoracic dystrophy, Nephronophthisis	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 219659767.	NM_024753.5(TTC21B):c.879C>G (p.Leu293=) GRCh37: Chr2:166788283 GRCh38: Chr2:165931773	TTC21B		Jeune thoracic dystrophy, Nephronophthisis	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 219651268.	NM_024753.5(TTC21B):c.2385G>A (p.Leu795=) GRCh37: Chr2:166767913 GRCh38: Chr2:165911403	TTC21B		Jeune thoracic dystrophy, Nephronophthisis	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 219634869.	NM_024753.5(TTC21B):c.828A>G (p.Thr276=) GRCh37: Chr2:166788334 GRCh38: Chr2:165931824	TTC21B		Jeune thoracic dystrophy, Nephronophthisis	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 219551770.	NM_024753.5(TTC21B):c.873T>C (p.Ile291=) GRCh37: Chr2:166788289 GRCh38: Chr2:165931779	TTC21B		Jeune thoracic dystrophy, Nephronophthisis	Likely benign (Dec 19, 2021)	criteria provided, single submitter
Select item 219551471.	NM_024753.5(TTC21B):c.3670C>T (p.Leu1224=) GRCh37: Chr2:166740318 GRCh38: Chr2:165883808	TTC21B		Jeune thoracic dystrophy, Nephronophthisis	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 219550372.	NM_020800.3(IFT80):c.896T>C (p.Val299Ala) GRCh37: Chr3:160037609 GRCh38: Chr3:160319821	TRIM59-IFT80, IFT80	V299A, V162A	Jeune thoracic dystrophy	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 219463773.	NM_024753.5(TTC21B):c.484A>G (p.Lys162Glu) GRCh37: Chr2:166799797 GRCh38: Chr2:165943287	TTC21B, TTC21B-AS1	K162E	Nephronophthisis, Jeune thoracic dystrophy	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 219463474.	NM_020800.3(IFT80):c.2224-7A>G GRCh37: Chr3:159976430 GRCh38: Chr3:160258642	IFT80, TRIM59-IFT80		Jeune thoracic dystrophy	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 219376875.	NM_024753.5(TTC21B):c.1739C>T (p.Ala580Val) GRCh37: Chr2:166773927 GRCh38: Chr2:165917417	TTC21B	A580V	Jeune thoracic dystrophy, Nephronophthisis	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 219343376.	NM_024753.5(TTC21B):c.1790G>T (p.Arg597Ile) GRCh37: Chr2:166773876 GRCh38: Chr2:165917366	TTC21B	R597I	Jeune thoracic dystrophy, Nephronophthisis	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 219248177.	NM_024753.5(TTC21B):c.3007G>A (p.Glu1003Lys) GRCh37: Chr2:166747442 GRCh38: Chr2:165890932	TTC21B	E1003K	Jeune thoracic dystrophy, Nephronophthisis	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 219240478.	NM_020800.3(IFT80):c.2099G>A (p.Arg700Lys) GRCh37: Chr3:159995094 GRCh38: Chr3:160277306	TRIM59-IFT80, IFT80	R700K, R563K	Jeune thoracic dystrophy	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 219227779.	NM_024753.5(TTC21B):c.2627T>A (p.Val876Asp) GRCh37: Chr2:166758362 GRCh38: Chr2:165901852	TTC21B	V876D	Jeune thoracic dystrophy, Nephronophthisis	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 219191080.	NM_024753.5(TTC21B):c.3263+19T>A GRCh37: Chr2:166746970 GRCh38: Chr2:165890460	TTC21B		Jeune thoracic dystrophy, Nephronophthisis	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 219148681.	NM_001377.3(DYNC2H1):c.7140+13del GRCh37: Chr11:103058328 GRCh38: Chr11:103187599	DYNC2H1		Jeune thoracic dystrophy	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 219025582.	NM_001377.3(DYNC2H1):c.5390G>T (p.Gly1797Val) GRCh37: Chr11:103043866 GRCh38: Chr11:103173137	DYNC2H1	G1797V	Jeune thoracic dystrophy	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 218914583.	NM_001377.3(DYNC2H1):c.11394T>A (p.Thr3798=) GRCh37: Chr11:103178461 GRCh38: Chr11:103307732	DYNC2H1		Jeune thoracic dystrophy	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 218769484.	NM_020800.3(IFT80):c.1961dup (p.Asn654fs) GRCh37: Chr3:159995231-159995232 GRCh38: Chr3:160277443-160277444	TRIM59-IFT80, IFT80	N517fs, N654fs	Jeune thoracic dystrophy	Pathogenic (Sep 23, 2022)	criteria provided, single submitter
Select item 218691485.	NM_001377.3(DYNC2H1):c.3860G>A (p.Arg1287Gln) GRCh37: Chr11:103027232 GRCh38: Chr11:103156503	DYNC2H1	R1287Q	Inborn genetic diseases, Jeune thoracic dystrophy	Uncertain significance (May 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218567986.	NM_001377.3(DYNC2H1):c.989G>A (p.Arg330His) GRCh37: Chr11:102988582 GRCh38: Chr11:103117853	DYNC2H1	R330H	Jeune thoracic dystrophy	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 218560787.	NM_020800.3(IFT80):c.1954A>T (p.Ile652Leu) GRCh37: Chr3:159995239 GRCh38: Chr3:160277451	IFT80, TRIM59-IFT80	I515L, I652L	Jeune thoracic dystrophy	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 218553188.	NM_001377.3(DYNC2H1):c.12765+14A>G GRCh37: Chr11:103339447 GRCh38: Chr11:103468719	DYNC2H1		Jeune thoracic dystrophy	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 218454889.	NM_001377.3(DYNC2H1):c.1249-5A>G GRCh37: Chr11:102991649 GRCh38: Chr11:103120920	DYNC2H1		Jeune thoracic dystrophy	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 218452790.	NM_020800.3(IFT80):c.301A>G (p.Ser101Gly) GRCh37: Chr3:160095287 GRCh38: Chr3:160377499	TRIM59-IFT80, IFT80	S101G	Jeune thoracic dystrophy	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 218413191.	NM_024753.5(TTC21B):c.1561C>T (p.His521Tyr) GRCh37: Chr2:166775899 GRCh38: Chr2:165919389	TTC21B	H521Y	Nephronophthisis, Jeune thoracic dystrophy	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 218368192.	NM_001377.3(DYNC2H1):c.9231+16T>C GRCh37: Chr11:103092898 GRCh38: Chr11:103222169	DYNC2H1		Jeune thoracic dystrophy	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 218244693.	NM_001377.3(DYNC2H1):c.5724A>G (p.Ser1908=) GRCh37: Chr11:103047013 GRCh38: Chr11:103176284	DYNC2H1		Jeune thoracic dystrophy	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 218175394.	NM_024753.5(TTC21B):c.1479A>G (p.Gln493=) GRCh37: Chr2:166781096 GRCh38: Chr2:165924586	TTC21B		Jeune thoracic dystrophy, Nephronophthisis	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 218120095.	NM_020800.3(IFT80):c.1483C>T (p.Arg495Ter) GRCh37: Chr3:160000299 GRCh38: Chr3:160282511	IFT80, TRIM59-IFT80	R358, R495	Jeune thoracic dystrophy	Pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 218108096.	NM_024753.5(TTC21B):c.711-17A>G GRCh37: Chr2:166789584 GRCh38: Chr2:165933074	TTC21B		Jeune thoracic dystrophy, Nephronophthisis	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 218062397.	NM_024753.5(TTC21B):c.1524T>C (p.Ile508=) GRCh37: Chr2:166775936 GRCh38: Chr2:165919426	TTC21B		Jeune thoracic dystrophy, Nephronophthisis	Likely benign (Apr 22, 2022)	criteria provided, single submitter
Select item 218047298.	NM_001377.3(DYNC2H1):c.72G>A (p.Met24Ile) GRCh37: Chr11:102980375 GRCh38: Chr11:103109646	DYNC2H1	M24I	Jeune thoracic dystrophy	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 218023199.	NM_024753.5(TTC21B):c.573C>T (p.Arg191=) GRCh37: Chr2:166797674 GRCh38: Chr2:165941164	TTC21B, TTC21B-AS1		Jeune thoracic dystrophy, Nephronophthisis	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 2179683100.	NM_024753.5(TTC21B):c.2655A>G (p.Glu885=) GRCh37: Chr2:166758334 GRCh38: Chr2:165901824	TTC21B		Jeune thoracic dystrophy, Nephronophthisis	Likely benign (Sep 13, 2022)	criteria provided, single submitter

<< First< Prev

Page of 25