ClinVar for MedGen (Select 19860) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25796561.	NM_001377.3(DYNC2H1):c.6439G>T (p.Asp2147Tyr) GRCh37: Chr11:103052577 GRCh38: Chr11:103181848	DYNC2H1	D2147Y	Asphyxiating thoracic dystrophy 3	Likely pathogenic (Sep 11, 2023)	no assertion criteria provided
Select item 25796402.	NM_001377.3(DYNC2H1):c.6477G>A (p.Gln2159=) GRCh37: Chr11:103052615 GRCh38: Chr11:103181886	DYNC2H1		Asphyxiating thoracic dystrophy 3	Likely pathogenic	no assertion criteria provided
Select item 25746783.	NM_001377.3(DYNC2H1):c.7276C>T (p.Arg2426Cys) GRCh37: Chr11:103059361 GRCh38: Chr11:103188632	DYNC2H1	R2426C	Asphyxiating thoracic dystrophy 3	Likely pathogenic (Aug 4, 2023)	criteria provided, single submitter
Select item 25725274.	NM_001377.3(DYNC2H1):c.2443G>C (p.Gly815Arg) GRCh37: Chr11:103006546 GRCh38: Chr11:103135817	DYNC2H1	G815R	Asphyxiating thoracic dystrophy 3	Uncertain significance	criteria provided, single submitter
Select item 25724515.	NM_001377.3(DYNC2H1):c.7547C>G (p.Ser2516Ter) GRCh37: Chr11:103062832 GRCh38: Chr11:103192103	DYNC2H1	S2516*	Asphyxiating thoracic dystrophy 3	Likely pathogenic	criteria provided, single submitter
Select item 24417076.	NM_001377.3(DYNC2H1):c.4360C>A (p.Leu1454Met) GRCh37: Chr11:103029738 GRCh38: Chr11:103159009	DYNC2H1	L1454M	Asphyxiating thoracic dystrophy 3	Uncertain significance (Aug 25, 2022)	criteria provided, single submitter
Select item 24410777.	NM_001377.3(DYNC2H1):c.7912T>A (p.Ser2638Thr) GRCh37: Chr11:103070029 GRCh38: Chr11:103199300	DYNC2H1	S2638T	Asphyxiating thoracic dystrophy 3	Uncertain significance (Nov 7, 2019)	criteria provided, single submitter
Select item 24410768.	NM_001377.3(DYNC2H1):c.4166C>T (p.Thr1389Ile) GRCh37: Chr11:103029444 GRCh38: Chr11:103158715	DYNC2H1	T1389I	Asphyxiating thoracic dystrophy 3	Uncertain significance (Sep 1, 2020)	criteria provided, single submitter
Select item 24410759.	NM_001377.3(DYNC2H1):c.9041G>T (p.Arg3014Ile) GRCh37: Chr11:103091446 GRCh38: Chr11:103220717	DYNC2H1	R3014I	Asphyxiating thoracic dystrophy 3	Uncertain significance (Nov 21, 2022)	criteria provided, single submitter
Select item 244107410.	NM_001377.3(DYNC2H1):c.10655A>C (p.Gln3552Pro) GRCh37: Chr11:103130666 GRCh38: Chr11:103259937	DYNC2H1	Q3552P, Q3559P	Asphyxiating thoracic dystrophy 3	Uncertain significance (Sep 11, 2019)	criteria provided, single submitter
Select item 244107311.	NM_001377.3(DYNC2H1):c.747G>A (p.Leu249=) GRCh37: Chr11:102987424 GRCh38: Chr11:103116695	DYNC2H1		Asphyxiating thoracic dystrophy 3	Uncertain significance (Sep 11, 2019)	criteria provided, single submitter
Select item 244107212.	NM_001377.3(DYNC2H1):c.7793C>G (p.Pro2598Arg) GRCh37: Chr11:103068746 GRCh38: Chr11:103198017	DYNC2H1	P2598R	Asphyxiating thoracic dystrophy 3	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 244107113.	NM_001377.3(DYNC2H1):c.3188C>G (p.Pro1063Arg) GRCh37: Chr11:103024123 GRCh38: Chr11:103153394	DYNC2H1	P1063R	Asphyxiating thoracic dystrophy 3	Uncertain significance (Dec 31, 2021)	criteria provided, single submitter
Select item 244107014.	NM_001377.3(DYNC2H1):c.1037A>G (p.Tyr346Cys) GRCh37: Chr11:102991213 GRCh38: Chr11:103120484	DYNC2H1	Y346C	Asphyxiating thoracic dystrophy 3	Uncertain significance (May 24, 2020)	criteria provided, single submitter
Select item 243994715.	NM_001377.3(DYNC2H1):c.4219C>T (p.Gln1407Ter) GRCh37: Chr11:103029497 GRCh38: Chr11:103158768	DYNC2H1	Q1407*	Asphyxiating thoracic dystrophy 3	Likely pathogenic (Aug 31, 2022)	criteria provided, single submitter
Select item 225532716.	NM_001377.3(DYNC2H1):c.11135G>A (p.Arg3712His) GRCh37: Chr11:103173861 GRCh38: Chr11:103303132	DYNC2H1	R3712H, R3719H	Inborn genetic diseases, Asphyxiating thoracic dystrophy 3	Uncertain significance (Feb 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 207982717.	NM_001377.3(DYNC2H1):c.2624A>G (p.His875Arg) GRCh37: Chr11:103014046 GRCh38: Chr11:103143317	DYNC2H1	H875R	Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3	Uncertain significance (May 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180267818.	NM_001377.3(DYNC2H1):c.9440+4A>G GRCh37: Chr11:103102079 GRCh38: Chr11:103231350	DYNC2H1		Asphyxiating thoracic dystrophy 3	Likely pathogenic (Dec 1, 2022)	criteria provided, single submitter
Select item 180267719.	NM_001377.3(DYNC2H1):c.6381dup (p.Ser2128fs) GRCh37: Chr11:103052515-103052516 GRCh38: Chr11:103181786-103181787	DYNC2H1	S2128fs	Asphyxiating thoracic dystrophy 3	Likely pathogenic	criteria provided, single submitter
Select item 170984320.	NM_001377.3(DYNC2H1):c.7172A>G (p.Asn2391Ser) GRCh37: Chr11:103059257 GRCh38: Chr11:103188528	DYNC2H1	N2391S	Asphyxiating thoracic dystrophy 3	Uncertain significance (Jun 29, 2021)	criteria provided, single submitter
Select item 170747721.	NM_001377.3(DYNC2H1):c.6464G>A (p.Trp2155Ter) GRCh37: Chr11:103052602 GRCh38: Chr11:103181873	DYNC2H1	W2155*	Asphyxiating thoracic dystrophy 3	Pathogenic	criteria provided, single submitter
Select item 169921022.	NM_001377.3(DYNC2H1):c.5357G>C (p.Gly1786Ala) GRCh37: Chr11:103043833 GRCh38: Chr11:103173104	DYNC2H1	G1786A	Asphyxiating thoracic dystrophy 3	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 169917323.	NM_001377.3(DYNC2H1):c.6023T>C (p.Met2008Thr) GRCh37: Chr11:103048433 GRCh38: Chr11:103177704	DYNC2H1	M2008T	Asphyxiating thoracic dystrophy 3	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 169839024.	NM_001377.3(DYNC2H1):c.3446G>A (p.Trp1149Ter) GRCh37: Chr11:103025323 GRCh38: Chr11:103154594	DYNC2H1	W1149*	Asphyxiating thoracic dystrophy 3	Pathogenic	criteria provided, single submitter
Select item 168530925.	NM_001377.3(DYNC2H1):c.12457-1G>C GRCh37: Chr11:103325913 GRCh38: Chr11:103455185	DYNC2H1		Asphyxiating thoracic dystrophy 3	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168530726.	NM_001377.3(DYNC2H1):c.5559-1G>C GRCh37: Chr11:103044783 GRCh38: Chr11:103174054	DYNC2H1		Asphyxiating thoracic dystrophy 3	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168344927.	NM_001377.3(DYNC2H1):c.4429A>T (p.Lys1477Ter) GRCh37: Chr11:103031711 GRCh38: Chr11:103160982	DYNC2H1	K1477*	Asphyxiating thoracic dystrophy 3	Pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 168344028.	NM_001377.3(DYNC2H1):c.2T>C (p.Met1Thr) GRCh37: Chr11:102980305 GRCh38: Chr11:103109576	DYNC2H1	M1T	Asphyxiating thoracic dystrophy 3	Pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 168343029.	NM_001377.3(DYNC2H1):c.11320G>A (p.Gly3774Arg) GRCh37: Chr11:103175387 GRCh38: Chr11:103304658	DYNC2H1	G3774R, G3781R	Asphyxiating thoracic dystrophy 3	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 168342230.	NM_001377.3(DYNC2H1):c.7972G>C (p.Gly2658Arg) GRCh37: Chr11:103070089 GRCh38: Chr11:103199360	DYNC2H1	G2658R	Asphyxiating thoracic dystrophy 3	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 167948931.	NM_001377.3(DYNC2H1):c.10606-14A>G GRCh37: Chr11:103130603 GRCh38: Chr11:103259874	DYNC2H1		not provided, Asphyxiating thoracic dystrophy 3	Conflicting interpretations of pathogenicity (Apr 8, 2022)	criteria provided, conflicting interpretations
Select item 157084432.	NM_001377.3(DYNC2H1):c.7719C>T (p.Tyr2573=) GRCh37: Chr11:103068672 GRCh38: Chr11:103197943	DYNC2H1		Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3	Likely benign (Jun 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154990033.	NM_001377.3(DYNC2H1):c.4762+20T>C GRCh37: Chr11:103036797 GRCh38: Chr11:103166068	DYNC2H1		Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3	Likely benign (Aug 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154616634.	NM_001377.3(DYNC2H1):c.7794A>G (p.Pro2598=) GRCh37: Chr11:103068747 GRCh38: Chr11:103198018	DYNC2H1		Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3	Likely benign (Dec 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 146011235.	NM_001377.3(DYNC2H1):c.8310T>G (p.Tyr2770Ter) GRCh37: Chr11:103074504 GRCh38: Chr11:103203775	DYNC2H1	Y2770*	Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3	Pathogenic/Likely pathogenic (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137774536.	NM_001377.3(DYNC2H1):c.2422G>A (p.Gly808Ser) GRCh37: Chr11:103006525 GRCh38: Chr11:103135796	DYNC2H1	G808S	Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy	Uncertain significance (May 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134464837.	NM_001377.3(DYNC2H1):c.9638A>G (p.Tyr3213Cys) GRCh37: Chr11:103106471 GRCh38: Chr11:103235742	DYNC2H1	Y3213C	Asphyxiating thoracic dystrophy 3	Pathogenic (Jan 17, 2019)	no assertion criteria provided
Select item 133351538.	NM_001377.3(DYNC2H1):c.499C>T (p.Arg167Ter) GRCh37: Chr11:102984964 GRCh38: Chr11:103114235	DYNC2H1	R167*	Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy	Pathogenic/Likely pathogenic (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133271939.	NM_001377.3(DYNC2H1):c.12238C>T (p.Gln4080Ter) GRCh37: Chr11:103270472 GRCh38: Chr11:103399744	DYNC2H1	Q4080, Q4087	Asphyxiating thoracic dystrophy 3	Pathogenic	criteria provided, single submitter
Select item 133042240.	NM_001377.3(DYNC2H1):c.1953+14T>C GRCh37: Chr11:102999748 GRCh38: Chr11:103129019	DYNC2H1		Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133038041.	NM_001377.3(DYNC2H1):c.9050T>C (p.Leu3017Pro) GRCh37: Chr11:103091455 GRCh38: Chr11:103220726	DYNC2H1	L3017P	Asphyxiating thoracic dystrophy 3	Uncertain significance (Oct 25, 2021)	criteria provided, single submitter
Select item 132994642.	NM_001377.3(DYNC2H1):c.1856A>G (p.Gln619Arg) GRCh37: Chr11:102996023 GRCh38: Chr11:103125294	DYNC2H1	Q619R	Asphyxiating thoracic dystrophy 3	Uncertain significance (Dec 9, 2021)	criteria provided, single submitter
Select item 132279343.	NM_001377.3(DYNC2H1):c.4093C>T (p.Gln1365Ter) GRCh37: Chr11:103027465 GRCh38: Chr11:103156736	DYNC2H1	Q1365*	Asphyxiating thoracic dystrophy 3	Pathogenic (Nov 7, 2019)	criteria provided, single submitter
Select item 132047744.	NM_001377.3(DYNC2H1):c.5930T>C (p.Ile1977Thr) GRCh37: Chr11:103048340 GRCh38: Chr11:103177611	DYNC2H1	I1977T	not provided, Asphyxiating thoracic dystrophy 3	Uncertain significance (Jun 23, 2020)	criteria provided, multiple submitters, no conflicts
Select item 129935145.	NM_001377.3(DYNC2H1):c.9313C>T (p.Arg3105Ter) GRCh37: Chr11:103093775 GRCh38: Chr11:103223046	DYNC2H1	R3105*	Asphyxiating thoracic dystrophy 3	Likely pathogenic (Aug 23, 2021)	criteria provided, single submitter
Select item 125552746.	NM_001377.3(DYNC2H1):c.9107+34G>A GRCh37: Chr11:103091546 GRCh38: Chr11:103220817	DYNC2H1		not provided, Asphyxiating thoracic dystrophy 3	Benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 125201847.	NM_001377.3(DYNC2H1):c.3331G>A (p.Glu1111Lys) GRCh37: Chr11:103025208 GRCh38: Chr11:103154479	DYNC2H1	E1111K	Asphyxiating thoracic dystrophy 3	Pathogenic (Apr 29, 2021)	no assertion criteria provided
Select item 124828848.	NM_001377.3(DYNC2H1):c.12156+23G>A GRCh37: Chr11:103229110 GRCh38: Chr11:103358382	DYNC2H1		not provided, Asphyxiating thoracic dystrophy 3	Benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 122908649.	NM_001377.3(DYNC2H1):c.11382+18_11382+19insGGT GRCh37: Chr11:103175465-103175466 GRCh38: Chr11:103304736-103304737	DYNC2H1		not provided, Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 122437150.	NM_001377.3(DYNC2H1):c.244C>T (p.Arg82Ter) GRCh37: Chr11:102984314 GRCh38: Chr11:103113585	DYNC2H1	R82*	not provided, Asphyxiating thoracic dystrophy 3	Pathogenic/Likely pathogenic (Sep 1, 2020)	criteria provided, multiple submitters, no conflicts
Select item 121722351.	NM_194313.4(KIF24):c.1565A>G (p.Asn522Ser) GRCh37: Chr9:34259654 GRCh38: Chr9:34259656	KIF24	N522S	Asphyxiating thoracic dystrophy 3	Pathogenic	no assertion criteria provided
Select item 121011852.	NM_001377.3(DYNC2H1):c.2106+3A>T GRCh37: Chr11:103004439 GRCh38: Chr11:103133710	DYNC2H1		Asphyxiating thoracic dystrophy 3	Uncertain significance (Dec 2, 2020)	no assertion criteria provided
Select item 121011753.	NM_001377.3(DYNC2H1):c.11483T>G (p.Ile3828Arg) GRCh37: Chr11:103178550 GRCh38: Chr11:103307821	DYNC2H1	I3828R, I3835R	Asphyxiating thoracic dystrophy 3	Uncertain significance (Dec 2, 2020)	no assertion criteria provided
Select item 117741354.	NM_001377.3(DYNC2H1):c.126C>A (p.Phe42Leu) GRCh37: Chr11:102980429 GRCh38: Chr11:103109700	DYNC2H1	F42L	Asphyxiating thoracic dystrophy 3	Uncertain significance (Jan 4, 2021)	criteria provided, single submitter
Select item 117498055.	NM_001377.3(DYNC2H1):c.3574-8del GRCh37: Chr11:103026041 GRCh38: Chr11:103155312	DYNC2H1		Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103104056.	NM_001377.3(DYNC2H1):c.970C>T (p.Leu324Phe) GRCh37: Chr11:102988563 GRCh38: Chr11:103117834	DYNC2H1	L324F	Asphyxiating thoracic dystrophy 3, not specified	Uncertain significance (Jul 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 103103857.	NM_001377.3(DYNC2H1):c.61T>G (p.Phe21Val) GRCh37: Chr11:102980364 GRCh38: Chr11:103109635	DYNC2H1	F21V	Asphyxiating thoracic dystrophy 3	Uncertain significance (Feb 12, 2020)	criteria provided, single submitter
Select item 103103758.	NM_001377.3(DYNC2H1):c.5176C>T (p.Arg1726Ter) GRCh37: Chr11:103041639 GRCh38: Chr11:103170910	DYNC2H1	R1726*	Asphyxiating thoracic dystrophy 3, not provided	Pathogenic (Feb 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 103103659.	NM_001377.3(DYNC2H1):c.4231T>C (p.Cys1411Arg) GRCh37: Chr11:103029509 GRCh38: Chr11:103158780	DYNC2H1	C1411R	Asphyxiating thoracic dystrophy 3	Uncertain significance (Jun 8, 2020)	criteria provided, single submitter
Select item 101573160.	NM_001377.3(DYNC2H1):c.2974G>A (p.Asp992Asn) GRCh37: Chr11:103022892 GRCh38: Chr11:103152163	DYNC2H1	D992N	Inborn genetic diseases, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99783961.	NM_001377.3(DYNC2H1):c.536G>A (p.Trp179Ter) GRCh37: Chr11:102985939 GRCh38: Chr11:103115210	DYNC2H1	W179*	Asphyxiating thoracic dystrophy 3	Pathogenic	no assertion criteria provided
Select item 99783862.	NM_001377.3(DYNC2H1):c.872G>T (p.Cys291Phe) GRCh37: Chr11:102988465 GRCh38: Chr11:103117736	DYNC2H1	C291F	Asphyxiating thoracic dystrophy 3	Uncertain significance	no assertion criteria provided
Select item 99783763.	NM_001377.3(DYNC2H1):c.11231A>T (p.Glu3744Val) GRCh37: Chr11:103173957 GRCh38: Chr11:103303228	DYNC2H1	E3744V, E3751V	Asphyxiating thoracic dystrophy 3	Uncertain significance	no assertion criteria provided
Select item 99783664.	NM_001377.3(DYNC2H1):c.3459-1G>A GRCh37: Chr11:103025423 GRCh38: Chr11:103154694	DYNC2H1		Asphyxiating thoracic dystrophy 3	Pathogenic	no assertion criteria provided
Select item 99783565.	NM_001377.3(DYNC2H1):c.9817C>T (p.Gln3273Ter) GRCh37: Chr11:103107266 GRCh38: Chr11:103236537	DYNC2H1	Q3273*	Asphyxiating thoracic dystrophy 3	Pathogenic	no assertion criteria provided
Select item 99561166.	NM_001377.3(DYNC2H1):c.6700A>T (p.Thr2234Ser) GRCh37: Chr11:103057037 GRCh38: Chr11:103186308	DYNC2H1	T2234S	Asphyxiating thoracic dystrophy 3	Uncertain significance (Mar 17, 2020)	criteria provided, single submitter
Select item 99425567.	NM_001377.3(DYNC2H1):c.8218A>G (p.Thr2740Ala) GRCh37: Chr11:103074412 GRCh38: Chr11:103203683	DYNC2H1	T2740A	Asphyxiating thoracic dystrophy 3	Uncertain significance (Feb 12, 2020)	criteria provided, single submitter
Select item 99410068.	NM_001377.3(DYNC2H1):c.10998A>G (p.Ala3666=) GRCh37: Chr11:103157091 GRCh38: Chr11:103286362	DYNC2H1		Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3	Likely benign (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99404169.	NM_001377.3(DYNC2H1):c.10042+7_10042+10del GRCh37: Chr11:103116109-103116112 GRCh38: Chr11:103245380-103245383	DYNC2H1		Asphyxiating thoracic dystrophy 3	Likely benign (Sep 12, 2019)	criteria provided, single submitter
Select item 99398470.	NM_001377.3(DYNC2H1):c.1485+19G>A GRCh37: Chr11:102992244 GRCh38: Chr11:103121515	DYNC2H1		Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy, not provided	Benign/Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99393171.	NM_001377.3(DYNC2H1):c.476T>C (p.Leu159Ser) GRCh37: Chr11:102984941 GRCh38: Chr11:103114212	DYNC2H1	L159S	Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3	Conflicting interpretations of pathogenicity (Jul 11, 2022)	criteria provided, conflicting interpretations
Select item 99384372.	NM_001377.3(DYNC2H1):c.9011G>A (p.Arg3004His) GRCh37: Chr11:103091416 GRCh38: Chr11:103220687	DYNC2H1	R3004H	not provided, Asphyxiating thoracic dystrophy 3, Inborn genetic diseases, Jeune thoracic dystrophy	Uncertain significance (Apr 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 99376573.	NM_001377.3(DYNC2H1):c.2719T>C (p.Cys907Arg) GRCh37: Chr11:103018517 GRCh38: Chr11:103147788	DYNC2H1	C907R	Asphyxiating thoracic dystrophy 3	Uncertain significance (Sep 25, 2019)	criteria provided, single submitter
Select item 99351474.	NM_001377.3(DYNC2H1):c.7540+20A>G GRCh37: Chr11:103062368 GRCh38: Chr11:103191639	DYNC2H1		Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy	Likely benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99346375.	NM_001377.3(DYNC2H1):c.1469G>A (p.Arg490His) GRCh37: Chr11:102992209 GRCh38: Chr11:103121480	DYNC2H1	R490H	not specified, Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy	Conflicting interpretations of pathogenicity (Sep 5, 2022)	criteria provided, conflicting interpretations
Select item 99290576.	NM_001377.3(DYNC2H1):c.317G>A (p.Ser106Asn) GRCh37: Chr11:102984387 GRCh38: Chr11:103113658	DYNC2H1	S106N	not provided, Asphyxiating thoracic dystrophy 3, Inborn genetic diseases, Jeune thoracic dystrophy	Conflicting interpretations of pathogenicity (May 18, 2023)	criteria provided, conflicting interpretations
Select item 99290477.	NM_001377.3(DYNC2H1):c.554G>A (p.Arg185His) GRCh37: Chr11:102985957 GRCh38: Chr11:103115228	DYNC2H1	R185H	not provided, Asphyxiating thoracic dystrophy 3, Inborn genetic diseases, Jeune thoracic dystrophy	Conflicting interpretations of pathogenicity (May 8, 2023)	criteria provided, conflicting interpretations
Select item 97590378.	NM_001377.3(DYNC2H1):c.7402C>G (p.Leu2468Val) GRCh37: Chr11:103060510 GRCh38: Chr11:103189781	DYNC2H1	L2468V	Asphyxiating thoracic dystrophy 3	Uncertain significance (Apr 1, 2018)	criteria provided, single submitter
Select item 97538379.	NM_001377.3(DYNC2H1):c.3746A>T (p.Asp1249Val) GRCh37: Chr11:103027118 GRCh38: Chr11:103156389	DYNC2H1	D1249V	Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95011480.	NM_001377.3(DYNC2H1):c.7492A>G (p.Ile2498Val) GRCh37: Chr11:103062300 GRCh38: Chr11:103191571	DYNC2H1	I2498V	Inborn genetic diseases, Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy	Uncertain significance (May 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93199081.	NM_001080463.1(DYNC2H1):c.7293-2_7298delAGTTACCC GRCh37: Chr11:103060399-103060406 GRCh38: Chr11:103189670-103189677	DYNC2H1		Asphyxiating thoracic dystrophy 3	Pathogenic (Jan 17, 2019)	criteria provided, single submitter
Select item 93114682.	NM_001377.3(DYNC2H1):c.6310C>T (p.Pro2104Ser) GRCh37: Chr11:103049925 GRCh38: Chr11:103179196	DYNC2H1	P2104S	Asphyxiating thoracic dystrophy 3	Uncertain significance (Jul 8, 2019)	criteria provided, single submitter
Select item 88013483.	NM_001377.3(DYNC2H1):c.12736C>T (p.Leu4246Phe) GRCh37: Chr11:103339404 GRCh38: Chr11:103468676	DYNC2H1	L4246F, L4253F	Asphyxiating thoracic dystrophy 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88013384.	NM_001377.3(DYNC2H1):c.12693A>G (p.Gln4231=) GRCh37: Chr11:103339361 GRCh38: Chr11:103468633	DYNC2H1		Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3	Conflicting interpretations of pathogenicity (Aug 16, 2021)	criteria provided, conflicting interpretations
Select item 88013285.	NM_001377.3(DYNC2H1):c.12648+5T>C GRCh37: Chr11:103327089 GRCh38: Chr11:103456361	DYNC2H1		Asphyxiating thoracic dystrophy 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88009086.	NM_001377.3(DYNC2H1):c.11635A>C (p.Asn3879His) GRCh37: Chr11:103182748 GRCh38: Chr11:103312019	DYNC2H1	N3886H, N3879H	Asphyxiating thoracic dystrophy 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88008987.	NM_001377.3(DYNC2H1):c.11416C>T (p.Arg3806Cys) GRCh37: Chr11:103178483 GRCh38: Chr11:103307754	DYNC2H1	R3813C, R3806C	Asphyxiating thoracic dystrophy 3	Uncertain significance (Aug 15, 2017)	criteria provided, single submitter
Select item 88002888.	NM_001377.3(DYNC2H1):c.10230T>C (p.His3410=) GRCh37: Chr11:103126167 GRCh38: Chr11:103255438	DYNC2H1		Asphyxiating thoracic dystrophy 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87996689.	NM_001377.3(DYNC2H1):c.8991C>T (p.Pro2997=) GRCh37: Chr11:103091396 GRCh38: Chr11:103220667	DYNC2H1		Asphyxiating thoracic dystrophy 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87992490.	NM_001377.3(DYNC2H1):c.7540+14G>T GRCh37: Chr11:103062362 GRCh38: Chr11:103191633	DYNC2H1		Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3	Benign/Likely benign (Sep 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87992391.	NM_001377.3(DYNC2H1):c.7452T>G (p.Phe2484Leu) GRCh37: Chr11:103062260 GRCh38: Chr11:103191531	DYNC2H1	F2484L	Asphyxiating thoracic dystrophy 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87992292.	NM_001377.3(DYNC2H1):c.7304G>A (p.Arg2435Lys) GRCh37: Chr11:103060412 GRCh38: Chr11:103189683	DYNC2H1	R2435K	Asphyxiating thoracic dystrophy 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87992193.	NM_001377.3(DYNC2H1):c.7293-13C>G GRCh37: Chr11:103060388 GRCh38: Chr11:103189659	DYNC2H1		Asphyxiating thoracic dystrophy 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87982094.	NM_001377.3(DYNC2H1):c.3920G>A (p.Cys1307Tyr) GRCh37: Chr11:103027292 GRCh38: Chr11:103156563	DYNC2H1	C1307Y	Asphyxiating thoracic dystrophy 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87978395.	NM_001377.3(DYNC2H1):c.2533G>A (p.Asp845Asn) GRCh37: Chr11:103006636 GRCh38: Chr11:103135907	DYNC2H1	D845N	Asphyxiating thoracic dystrophy 3	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 87978296.	NM_001377.3(DYNC2H1):c.2439T>C (p.Phe813=) GRCh37: Chr11:103006542 GRCh38: Chr11:103135813	DYNC2H1		Asphyxiating thoracic dystrophy 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87978197.	NM_001377.3(DYNC2H1):c.2345+9T>C GRCh37: Chr11:103006372 GRCh38: Chr11:103135643	DYNC2H1		Asphyxiating thoracic dystrophy 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87972798.	NM_001377.3(DYNC2H1):c.282C>A (p.Asn94Lys) GRCh37: Chr11:102984352 GRCh38: Chr11:103113623	DYNC2H1	N94K	Asphyxiating thoracic dystrophy 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87966099.	NM_001377.3(DYNC2H1):c.9968C>G (p.Thr3323Ser) GRCh37: Chr11:103116029 GRCh38: Chr11:103245300	DYNC2H1	T3330S, T3323S	Asphyxiating thoracic dystrophy 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 879606100.	NM_001377.3(DYNC2H1):c.8585G>A (p.Cys2862Tyr) GRCh37: Chr11:103082563 GRCh38: Chr11:103211834	DYNC2H1	C2862Y	Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3	Uncertain significance (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts

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