ClinVar for MedGen (Select 120527) - ClinVar

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Items: 69

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25849041.	NM_001353214.3(DYM):c.99G>A (p.Trp33Ter) GRCh37: Chr18:46956666 GRCh38: Chr18:49430296	DYM	W33*	Dyggve-Melchior-Clausen syndrome	Likely pathogenic	criteria provided, single submitter
Select item 25034302.	NM_001353214.3(DYM):c.610C>T (p.Arg204Ter) GRCh37: Chr18:46860108 GRCh38: Chr18:49333738	DYM	R128, R203, R204*	Dyggve-Melchior-Clausen syndrome	Pathogenic (Apr 1, 2023)	no assertion criteria provided
Select item 17042493.	NM_001353214.3(DYM):c.1177_1178del (p.His393fs) GRCh37: Chr18:46798621-46798622 GRCh38: Chr18:49272251-49272252	DYM	H202fs, H203fs, H317fs, H332fs, H351fs, H391fs, H392fs, H393fs	Dyggve-Melchior-Clausen syndrome	Pathogenic	no assertion criteria provided
Select item 16798984.	NM_001353214.3(DYM):c.445dup (p.Glu149fs) GRCh37: Chr18:46889579-46889580 GRCh38: Chr18:49363209-49363210	DYM	E148fs, E149fs, E73fs	Dyggve-Melchior-Clausen syndrome	Pathogenic (May 9, 2022)	criteria provided, single submitter
Select item 13227915.	NM_001353214.3(DYM):c.59T>A (p.Leu20Ter) GRCh37: Chr18:46956706 GRCh38: Chr18:49430336	DYM	L20*	Dyggve-Melchior-Clausen syndrome, not provided	Pathogenic (May 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10770996.	NM_001353214.3(DYM):c.54_55insC (p.Lys19fs) GRCh37: Chr18:46956710-46956711 GRCh38: Chr18:49430340-49430341	DYM	K19fs	Dyggve-Melchior-Clausen syndrome	Likely pathogenic (Feb 20, 2020)	no assertion criteria provided
Select item 10480927.	NM_001353214.3(DYM):c.963del (p.Ser322fs) GRCh37: Chr18:46808529 GRCh38: Chr18:49282159	DYM	S131fs, S132fs, S246fs, S261fs, S280fs, S320fs, S321fs, S322fs	Dyggve-Melchior-Clausen syndrome	Pathogenic (Oct 1, 2020)	criteria provided, single submitter
Select item 10480918.	NM_001353214.3(DYM):c.705_708dup (p.Pro237fs) GRCh37: Chr18:46858288-46858289 GRCh38: Chr18:49331918-49331919	DYM	P161fs, P195fs, P236fs, P237fs	Dyggve-Melchior-Clausen syndrome	Pathogenic (Oct 1, 2020)	criteria provided, single submitter
Select item 10480909.	NM_001353214.3(DYM):c.1728+2T>C GRCh37: Chr18:46690053 GRCh38: Chr18:49163683	DYM		Dyggve-Melchior-Clausen syndrome	Pathogenic/Likely pathogenic (May 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104808910.	NM_001353214.3(DYM):c.1653_1654del (p.His551fs) GRCh37: Chr18:46690129-46690130 GRCh38: Chr18:49163759-49163760	DYM	H305fs, H306fs, H361fs, H420fs, H435fs, H454fs, H494fs, H495fs, H496fs, H509fs, H549fs, H550fs, H551fs	Dyggve-Melchior-Clausen syndrome	Pathogenic (Oct 1, 2020)	criteria provided, single submitter
Select item 104808811.	NM_001353214.3(DYM):c.1049T>G (p.Leu350Arg) GRCh37: Chr18:46808443 GRCh38: Chr18:49282073	DYM	L159R, L160R, L274R, L289R, L308R, L348R, L349R, L350R	Dyggve-Melchior-Clausen syndrome	Uncertain significance (Oct 1, 2020)	criteria provided, single submitter
Select item 104808712.	NM_001353214.3(DYM):c.550T>C (p.Ser184Pro) GRCh37: Chr18:46860168 GRCh38: Chr18:49333798	DYM	S108P, S183P, S184P	Dyggve-Melchior-Clausen syndrome	Uncertain significance (Oct 1, 2020)	criteria provided, single submitter
Select item 104808613.	NM_001353214.3(DYM):c.1650dup (p.His551fs) GRCh37: Chr18:46690132-46690133 GRCh38: Chr18:49163762-49163763	DYM	H305fs, H306fs, H361fs, H420fs, H435fs, H454fs, H494fs, H495fs, H496fs, H509fs, H549fs, H550fs, H551fs	Dyggve-Melchior-Clausen syndrome	Pathogenic (Oct 1, 2020)	criteria provided, single submitter
Select item 103385214.	NM_001353214.3(DYM):c.899C>T (p.Ala300Val) GRCh37: Chr18:46812851 GRCh38: Chr18:49286481	DYM	A258V, A109V, A224V, A299V, A110V, A298V, A300V	Dyggve-Melchior-Clausen syndrome	Uncertain significance (Feb 21, 2018)	criteria provided, single submitter
Select item 102754915.	NM_001353214.3(DYM):c.719C>A (p.Ser240Ter) GRCh37: Chr18:46858278 GRCh38: Chr18:49331908	DYM	S164, S198, S239, S240	Dyggve-Melchior-Clausen syndrome	Pathogenic (Jan 21, 2021)	criteria provided, single submitter
Select item 99236516.	NM_001353214.3(DYM):c.1762C>T (p.Arg588Ter) GRCh37: Chr18:46645263 GRCh38: Chr18:49118893	DYM	R342, R343, R398, R457, R472, R491, R532, R533, R546, R586, R587, R588	not provided	Pathogenic (Oct 26, 2022)	criteria provided, single submitter
Select item 98286617.	NM_001353214.3(DYM):c.947-2A>G GRCh37: Chr18:46808547 GRCh38: Chr18:49282177	DYM		DYM-related condition, Dyggve-Melchior-Clausen syndrome	Pathogenic/Likely pathogenic (Jan 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 98123718.	NM_001353214.3(DYM):c.1222del (p.Asp408fs) GRCh37: Chr18:46798577 GRCh38: Chr18:49272207	DYM	D217fs, D218fs, D332fs, D347fs, D366fs, D406fs, D407fs, D408fs	Dyggve-Melchior-Clausen syndrome	Pathogenic	no assertion criteria provided
Select item 81351119.	NM_001353214.3(DYM):c.95dup (p.Trp33fs) GRCh37: Chr18:46956669-46956670 GRCh38: Chr18:49430299-49430300	DYM	W33fs	Dyggve-Melchior-Clausen syndrome	Pathogenic (May 16, 2018)	no assertion criteria provided
Select item 72625920.	NM_017653.6(DYM):c.1461-8T>G GRCh37: Chr18:46690165 GRCh38: Chr18:49163795	DYM		not provided, Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia 1	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 44956121.	NM_001353214.3(DYM):c.208C>T (p.Arg70Ter) GRCh37: Chr18:46906114 GRCh38: Chr18:49379744	DYM	R70, R69	not provided, Dyggve-Melchior-Clausen syndrome	Pathogenic/Likely pathogenic (Sep 23, 2020)	criteria provided, multiple submitters, no conflicts
Select item 32691922.	NM_017653.4(DYM):c.-309G>C GRCh37: Chr18:46987023 GRCh38: Chr18:49460653	DYM		Smith-McCort dysplasia, Dyggve-Melchior-Clausen syndrome	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32691823.	NM_001353214.3(DYM):c.-294C>T GRCh37: Chr18:46987008 GRCh38: Chr18:49460638	DYM		Smith-McCort dysplasia, Dyggve-Melchior-Clausen syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32691724.	NM_001353214.3(DYM):c.-251G>T GRCh37: Chr18:46986965 GRCh38: Chr18:49460595	DYM, LOC130062481		Smith-McCort dysplasia, Dyggve-Melchior-Clausen syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32691625.	NM_001353214.3(DYM):c.-243C>T GRCh37: Chr18:46986957 GRCh38: Chr18:49460587	DYM, LOC130062481		Smith-McCort dysplasia, Dyggve-Melchior-Clausen syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32691526.	NM_001353214.3(DYM):c.-238G>T GRCh37: Chr18:46986952 GRCh38: Chr18:49460582	DYM, LOC130062481		Smith-McCort dysplasia, Dyggve-Melchior-Clausen syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32691427.	NM_001353214.3(DYM):c.-222G>A GRCh37: Chr18:46986936 GRCh38: Chr18:49460566	DYM, LOC130062481		Smith-McCort dysplasia, Dyggve-Melchior-Clausen syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32691328.	NM_001353214.3(DYM):c.-215G>A GRCh37: Chr18:46986929 GRCh38: Chr18:49460559	DYM, LOC130062481		Smith-McCort dysplasia, Dyggve-Melchior-Clausen syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32691229.	NM_001353214.3(DYM):c.-169G>A GRCh37: Chr18:46986883 GRCh38: Chr18:49460513	LOC130062481, DYM		Smith-McCort dysplasia, Dyggve-Melchior-Clausen syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32691130.	NM_001353214.3(DYM):c.-154G>T GRCh37: Chr18:46986868 GRCh38: Chr18:49460498	DYM, LOC130062481		Smith-McCort dysplasia, Dyggve-Melchior-Clausen syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32691031.	NM_001353214.3(DYM):c.-94G>C GRCh37: Chr18:46986808 GRCh38: Chr18:49460438	DYM, LOC130062481		Smith-McCort dysplasia, Dyggve-Melchior-Clausen syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32690932.	NM_001353214.3(DYM):c.21A>T (p.Arg7Ser) GRCh37: Chr18:46956744 GRCh38: Chr18:49430374	DYM	R7S	Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32690833.	NM_001353214.3(DYM):c.42T>G (p.Asn14Lys) GRCh37: Chr18:46956723 GRCh38: Chr18:49430353	DYM	N14K	Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32690734.	NM_001353214.3(DYM):c.193+9G>A GRCh37: Chr18:46917954 GRCh38: Chr18:49391584	DYM		Connective tissue disorder, Smith-McCort dysplasia 1, Dyggve-Melchior-Clausen syndrome, not provided	Benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32690635.	NM_001353214.3(DYM):c.297C>T (p.Phe99=) GRCh37: Chr18:46905061 GRCh38: Chr18:49378691	DYM		Smith-McCort dysplasia, Dyggve-Melchior-Clausen syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32690536.	NM_001353214.3(DYM):c.321G>A (p.Leu107=) GRCh37: Chr18:46905037 GRCh38: Chr18:49378667	DYM		Connective tissue disorder, Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia, not provided	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 32690437.	NM_001353214.3(DYM):c.342G>A (p.Leu114=) GRCh37: Chr18:46905016 GRCh38: Chr18:49378646	DYM		Connective tissue disorder, Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia, not provided	Benign/Likely benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32690338.	NM_001353214.3(DYM):c.421A>G (p.Ser141Gly) GRCh37: Chr18:46904937 GRCh38: Chr18:49378567	DYM	S141G, S140G	Connective tissue disorder, Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia, not provided	Benign/Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32690239.	NM_001353214.3(DYM):c.573A>T (p.Glu191Asp) GRCh37: Chr18:46860145 GRCh38: Chr18:49333775	DYM	E191D, E190D, E115D	Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia, not provided	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 32690140.	NM_001353214.3(DYM):c.831T>C (p.Ser277=) GRCh37: Chr18:46812919 GRCh38: Chr18:49286549	DYM		Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32690041.	NM_001353214.3(DYM):c.920C>T (p.Ala307Val) GRCh37: Chr18:46812830 GRCh38: Chr18:49286460	DYM	A307V, A306V, A116V, A117V, A231V, A265V, A305V	Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32689942.	NM_001353214.3(DYM):c.961C>T (p.Pro321Ser) GRCh37: Chr18:46808531 GRCh38: Chr18:49282161	DYM	P321S, P320S, P130S, P131S, P245S, P260S, P279S, P319S	Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32689843.	NM_001353214.3(DYM):c.980C>A (p.Ala327Asp) GRCh37: Chr18:46808512 GRCh38: Chr18:49282142	DYM	A327D, A326D, A136D, A137D, A251D, A266D, A285D, A325D	Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia, Inborn genetic diseases, not provided	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32689744.	NM_001353214.3(DYM):c.1115T>C (p.Met372Thr) GRCh37: Chr18:46808377 GRCh38: Chr18:49282007	DYM	M372T, M371T, M181T, M182T, M296T, M311T, M330T, M370T	Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32689645.	NM_001353214.3(DYM):c.1116G>A (p.Met372Ile) GRCh37: Chr18:46808376 GRCh38: Chr18:49282006	DYM	M372I, M371I, M181I, M182I, M296I, M311I, M330I, M370I	Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32689546.	NM_001353214.3(DYM):c.1251+12T>C GRCh37: Chr18:46798536 GRCh38: Chr18:49272166	DYM		Smith-McCort dysplasia 1, Dyggve-Melchior-Clausen syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32689447.	NM_001353214.3(DYM):c.1868G>A (p.Arg623Gln) GRCh37: Chr18:46645157 GRCh38: Chr18:49118787	DYM	R568Q, R567Q, R623Q, R622Q, R377Q, R378Q, R433Q, R492Q, R507Q, R526Q, R581Q, R621Q	Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia, not provided	Conflicting interpretations of pathogenicity (Oct 18, 2022)	criteria provided, conflicting interpretations
Select item 32689348.	NM_001353214.3(DYM):c.1914G>C (p.Val638=) GRCh37: Chr18:46623883 GRCh38: Chr18:49097513	DYM		Connective tissue disorder, Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32689249.	NM_001353214.3(DYM):c.1924T>C (p.Phe642Leu) GRCh37: Chr18:46623873 GRCh38: Chr18:49097503	DYM	F587L, F581L, F642L, F526L, F586L, F641L, F336L, F396L, F397L, F452L, F511L, F524L, F525L, F545L, F600L, F640L	Inborn genetic diseases, Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia, not provided	Conflicting interpretations of pathogenicity (May 22, 2023)	criteria provided, conflicting interpretations
Select item 32689150.	NM_001353214.3(DYM):c.1977G>A (p.Leu659=) GRCh37: Chr18:46623820 GRCh38: Chr18:49097450	DYM		Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia, not provided	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 32689051.	NM_001353214.3(DYM):c.1995C>T (p.Gly665=) GRCh37: Chr18:46623802 GRCh38: Chr18:49097432	DYM		Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia, not provided	Conflicting interpretations of pathogenicity (Feb 22, 2022)	criteria provided, conflicting interpretations
Select item 32688952.	NM_001353214.3(DYM):c.2053G>A (p.Val685Met) GRCh37: Chr18:46570547 GRCh38: Chr18:49044177	DYM-AS1, DYM	V630M, V624M, V629M, V685M, V569M, V684M, V379M, V439M, V440M, V495M, V554M, V567M, V568M, V588M, V591M, V592M, V643M, V647M, V683M	Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32688853.	NM_001353214.3(DYM):c.2164G>T (p.Asp722Tyr) GRCh37: Chr18:46570436 GRCh38: Chr18:49044066	DYM, DYM-AS1	D667Y, D722Y, D606Y, D666Y, D661Y, D721Y, D416Y, D476Y, D477Y, D532Y, D591Y, D604Y, D605Y, D625Y, D628Y, D629Y, D680Y, D684Y, D720Y	Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia, not provided	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32688754.	NM_001353214.3(DYM):c.*12T>C GRCh37: Chr18:46570413 GRCh38: Chr18:49044043	DYM-AS1, DYM		Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32688655.	NM_001353214.3(DYM):c.*22G>A GRCh37: Chr18:46570403 GRCh38: Chr18:49044033	DYM, DYM-AS1		Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32688556.	NM_001353214.3(DYM):c.*123G>A GRCh37: Chr18:46570302 GRCh38: Chr18:49043932	DYM, DYM-AS1		Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 29075557.	NM_001353214.3(DYM):c.288-10G>A GRCh37: Chr18:46905080 GRCh38: Chr18:49378710	DYM		not provided, Smith-McCort dysplasia 1, Dyggve-Melchior-Clausen syndrome	Conflicting interpretations of pathogenicity (Jun 29, 2022)	criteria provided, conflicting interpretations
Select item 28752558.	NM_001353214.3(DYM):c.620+4T>G GRCh37: Chr18:46860094 GRCh38: Chr18:49333724	DYM		not provided, Smith-McCort dysplasia 1, Connective tissue disorder, Dyggve-Melchior-Clausen syndrome	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 28421159.	NM_001353214.3(DYM):c.1943A>G (p.Gln648Arg) GRCh37: Chr18:46623854 GRCh38: Chr18:49097484	DYM	Q593R, Q587R, Q647R, Q532R, Q592R, Q648R, Q530R, Q531R, Q551R, Q606R, Q646R, Q342R, Q402R, Q403R, Q458R, Q517R	Smith-McCort dysplasia, not provided, Dyggve-Melchior-Clausen syndrome	Conflicting interpretations of pathogenicity (Oct 7, 2022)	criteria provided, conflicting interpretations
Select item 28383860.	NM_001353214.3(DYM):c.1717C>T (p.Leu573=) GRCh37: Chr18:46690066 GRCh38: Chr18:49163696	DYM		not specified, Dyggve-Melchior-Clausen syndrome, not provided, Smith-McCort dysplasia	Conflicting interpretations of pathogenicity (Feb 1, 2023)	criteria provided, conflicting interpretations
Select item 19888361.	NM_001353214.3(DYM):c.621-2A>G GRCh37: Chr18:46858378 GRCh38: Chr18:49332008	DYM		not provided	Pathogenic (Jan 6, 2015)	criteria provided, single submitter
Select item 19410062.	NM_001353214.3(DYM):c.1344A>G (p.Gln448=) GRCh37: Chr18:46784771 GRCh38: Chr18:49258401	DYM		Smith-McCort dysplasia, not provided, Dyggve-Melchior-Clausen syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, multiple submitters, no conflicts
Select item 319263.	NM_001353214.3(DYM):c.422-2A>G GRCh37: Chr18:46889605 GRCh38: Chr18:49363235	DYM		Dyggve-Melchior-Clausen syndrome	Pathogenic (Sep 15, 2005)	no assertion criteria provided
Select item 319164.	NM_001353214.3(DYM):c.2043del (p.Lys681fs) GRCh37: Chr18:46570557 GRCh38: Chr18:49044187	DYM, DYM-AS1	K626fs, K565fs, K620fs, K625fs, K680fs, K681fs, K375fs, K435fs, K436fs, K491fs, K550fs, K563fs, K564fs, K584fs, K587fs, K588fs, K639fs, K643fs, K679fs	not provided, Dyggve-Melchior-Clausen syndrome	Pathogenic/Likely pathogenic (May 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 319065.	NM_001353214.3(DYM):c.1252-1G>A GRCh37: Chr18:46784864 GRCh38: Chr18:49258494	DYM		not provided	Pathogenic (Jan 14, 2022)	criteria provided, single submitter
Select item 318766.	NM_001353214.3(DYM):c.1405A>T (p.Asn469Tyr) GRCh37: Chr18:46783435 GRCh38: Chr18:49257065	DYM	N469Y, N468Y, N278Y, N279Y, N393Y, N408Y, N427Y, N467Y	Dyggve-Melchior-Clausen syndrome	Pathogenic (Feb 1, 2003)	no assertion criteria provided
Select item 318667.	NM_001353214.3(DYM):c.396T>A (p.Tyr132Ter) GRCh37: Chr18:46904962 GRCh38: Chr18:49378592	DYM	Y132, Y131	Inborn genetic diseases, Smith-McCort dysplasia 1, Dyggve-Melchior-Clausen syndrome, not provided	Pathogenic/Likely pathogenic (Sep 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 318568.	NM_001353214.3(DYM):c.763del (p.Thr255fs) GRCh37: Chr18:46858234 GRCh38: Chr18:49331864	DYM	T255fs, R255fs, T254fs, N255fs, R254fs, T179fs, T213fs	Dyggve-Melchior-Clausen syndrome	Pathogenic (Feb 1, 2003)	no assertion criteria provided
Select item 318469.	NM_001353214.3(DYM):c.48C>G (p.Tyr16Ter) GRCh37: Chr18:46956717 GRCh38: Chr18:49430347	DYM	Y16*	Dyggve-Melchior-Clausen syndrome	Pathogenic (Feb 1, 2003)	no assertion criteria provided

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Items: 69