ClinVar for MedGen (Select 462008) - ClinVar

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Items: 38

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26378471.	NM_030653.4(DDX11):c.792+1G>A GRCh37: Chr12:31242086 GRCh38: Chr12:31089152	DDX11		Warsaw breakage syndrome	Likely pathogenic (Oct 20, 2023)	criteria provided, single submitter
Select item 24443472.	NM_030653.4(DDX11):c.1630G>C (p.Ala544Pro) GRCh37: Chr12:31249679 GRCh38: Chr12:31096745	DDX11	A222P, A257P, A368P, A515P, A518P, A544P	Warsaw breakage syndrome	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24407253.	NM_030653.4(DDX11):c.2087G>A (p.Cys696Tyr) GRCh37: Chr12:31254801 GRCh38: Chr12:31101867	DDX11	C374Y, C409Y, C520Y, C667Y, C670Y, C696Y	Warsaw breakage syndrome	Uncertain significance (Apr 3, 2020)	criteria provided, single submitter
Select item 24407244.	NM_030653.4(DDX11):c.1234G>A (p.Gly412Ser) GRCh37: Chr12:31244797 GRCh38: Chr12:31091863	DDX11	G125S, G236S, G383S, G386S, G412S, G90S	Warsaw breakage syndrome	Uncertain significance (Apr 3, 2020)	criteria provided, single submitter
Select item 18053195.	NM_030653.4(DDX11):c.877C>T (p.His293Tyr) GRCh37: Chr12:31242421 GRCh38: Chr12:31089487	DDX11	H117Y, H264Y, H267Y, H293Y, H6Y	Warsaw breakage syndrome	Uncertain significance (May 26, 2020)	criteria provided, single submitter
Select item 18053186.	NM_030653.4(DDX11):c.1180G>A (p.Glu394Lys) GRCh37: Chr12:31244743 GRCh38: Chr12:31091809	DDX11	E107K, E218K, E365K, E368K, E394K, E72K	Warsaw breakage syndrome	Uncertain significance (May 26, 2020)	criteria provided, single submitter
Select item 16990477.	NM_030653.4(DDX11):c.1862dup (p.Thr622fs) GRCh37: Chr12:31250912-31250913 GRCh38: Chr12:31097978-31097979	DDX11	T596fs, T622fs	Warsaw breakage syndrome	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 13391718.	NM_030653.4(DDX11):c.1466A>T (p.Asn489Ile) GRCh37: Chr12:31247740 GRCh38: Chr12:31094806	DDX11	N463I, N489I	Warsaw breakage syndrome	Uncertain significance	criteria provided, single submitter
Select item 13391709.	NM_030653.4(DDX11):c.2096T>C (p.Val699Ala) GRCh37: Chr12:31254810 GRCh38: Chr12:31101876	DDX11	V673A, V699A	Warsaw breakage syndrome	Uncertain significance	criteria provided, single submitter
Select item 131013810.	NM_030653.4(DDX11):c.2692-1G>A GRCh37: Chr12:31256740 GRCh38: Chr12:31103806	DDX11		not provided, Warsaw breakage syndrome	Uncertain significance (Mar 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 125547211.	NM_030653.4(DDX11):c.2536+13G>A GRCh37: Chr12:31256342 GRCh38: Chr12:31103408	DDX11		Warsaw breakage syndrome	Benign (Jul 30, 2021)	criteria provided, single submitter
Select item 125547112.	NM_030653.4(DDX11):c.2271+18G>A GRCh37: Chr12:31255263 GRCh38: Chr12:31102329	DDX11		not provided, Warsaw breakage syndrome	Benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 125547013.	NM_030653.4(DDX11):c.2053-15C>T GRCh37: Chr12:31254752 GRCh38: Chr12:31101818	DDX11		Warsaw breakage syndrome	Benign (Jul 30, 2021)	criteria provided, single submitter
Select item 125546914.	NM_030653.4(DDX11):c.1983C>T (p.Leu661=) GRCh37: Chr12:31253995 GRCh38: Chr12:31101061	DDX11		not provided, Warsaw breakage syndrome	Benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 125546815.	NM_030653.4(DDX11):c.880+16A>G GRCh37: Chr12:31242440 GRCh38: Chr12:31089506	DDX11		Warsaw breakage syndrome	Benign (Jul 30, 2021)	criteria provided, single submitter
Select item 125546716.	NM_030653.4(DDX11):c.855T>C (p.Cys285=) GRCh37: Chr12:31242399 GRCh38: Chr12:31089465	DDX11		Warsaw breakage syndrome	Benign (Jul 30, 2021)	criteria provided, single submitter
Select item 125546617.	NM_030653.4(DDX11):c.684+8A>G GRCh37: Chr12:31240925 GRCh38: Chr12:31087991	DDX11		Warsaw breakage syndrome, not provided	Benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 125546518.	NM_030653.4(DDX11):c.638+15G>A GRCh37: Chr12:31238075 GRCh38: Chr12:31085141	DDX11		not provided, Warsaw breakage syndrome	Benign (Oct 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103223019.	NM_030653.4(DDX11):c.2373-2A>G GRCh37: Chr12:31255868 GRCh38: Chr12:31102934	DDX11		Warsaw breakage syndrome	Pathogenic (Aug 16, 2018)	criteria provided, single submitter
Select item 103144320.	NM_030653.4(DDX11):c.1482+2T>C GRCh37: Chr12:31247758 GRCh38: Chr12:31094824	DDX11		Warsaw breakage syndrome	Pathogenic (Mar 21, 2018)	criteria provided, single submitter
Select item 102889621.	NM_030653.4(DDX11):c.2537-1G>A GRCh37: Chr12:31256510 GRCh38: Chr12:31103576	DDX11		Warsaw breakage syndrome	Likely pathogenic (Jan 25, 2019)	criteria provided, single submitter
Select item 99247022.	NM_030653.4(DDX11):c.1403dup (p.Ser469fs) GRCh37: Chr12:31247556-31247557 GRCh38: Chr12:31094622-31094623	DDX11	S443fs, S469fs	Warsaw breakage syndrome, not provided	Pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 99236023.	NM_030653.4(DDX11):c.1672C>T (p.Arg558Ter) GRCh37: Chr12:31249834 GRCh38: Chr12:31096900	DDX11	R532, R558	Warsaw breakage syndrome	Pathogenic (May 31, 2023)	criteria provided, single submitter
Select item 91542224.	NM_030653.4(DDX11):c.2017G>T (p.Glu673Ter) GRCh37: Chr12:31254029 GRCh38: Chr12:31101095	DDX11	E647, E673	Warsaw breakage syndrome	Pathogenic (May 3, 2020)	criteria provided, single submitter
Select item 80685625.	NM_030653.4(DDX11):c.2230C>T (p.Gln744Ter) GRCh37: Chr12:31255204 GRCh38: Chr12:31102270	DDX11	Q694, Q718, Q744*	not provided, Warsaw breakage syndrome	Pathogenic/Likely pathogenic (Apr 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 80283126.	NM_030653.4(DDX11):c.2572G>A (p.Val858Ile) GRCh37: Chr12:31256546 GRCh38: Chr12:31103612	DDX11	V858I, V808I, R856H, V832I	Warsaw breakage syndrome	Benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 80283027.	NM_030653.4(DDX11):c.1819G>C (p.Ala607Pro) GRCh37: Chr12:31250875 GRCh38: Chr12:31097941	DDX11	A607P, A581P	Warsaw breakage syndrome	Likely benign (May 28, 2019)	criteria provided, single submitter
Select item 80282928.	NM_030653.4(DDX11):c.1699C>G (p.Gln567Glu) GRCh37: Chr12:31249861 GRCh38: Chr12:31096927	DDX11	Q541E, Q567E	Warsaw breakage syndrome	Benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 76853629.	NM_030653.4(DDX11):c.639-10A>T GRCh37: Chr12:31240862 GRCh38: Chr12:31087928	DDX11		not provided, Warsaw breakage syndrome	Benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63841130.	NM_030653.4(DDX11):c.2457+1G>T GRCh37: Chr12:31255955 GRCh38: Chr12:31103021	DDX11		Warsaw breakage syndrome	Pathogenic (Apr 27, 2019)	criteria provided, single submitter
Select item 62456331.	NM_030653.4(DDX11):c.2576T>G (p.Val859Gly) GRCh37: Chr12:31256550 GRCh38: Chr12:31103616	DDX11	V859G, S857R, V833G, V809G	Warsaw breakage syndrome	Conflicting interpretations of pathogenicity (Sep 15, 2019)	no assertion criteria provided
Select item 58515832.	NM_030653.4(DDX11):c.1888del (p.Arg630fs) GRCh37: Chr12:31253580 GRCh38: Chr12:31100646	DDX11	R604fs, R630fs	Warsaw breakage syndrome	not provided	no assertion provided
Select item 58515733.	NM_030653.4(DDX11):c.2635C>T (p.Arg879Ter) GRCh37: Chr12:31256609 GRCh38: Chr12:31103675	DDX11	P877L, R879, R829, R853*	Warsaw breakage syndrome	not provided	no assertion provided
Select item 42130834.	NM_030653.4(DDX11):c.1133G>C (p.Arg378Pro) GRCh37: Chr12:31244696 GRCh38: Chr12:31091762	DDX11	R378P, R352P	not provided	Likely pathogenic (Apr 22, 2022)	criteria provided, single submitter
Select item 25274935.	NM_030653.4(DDX11):c.1763-1G>C GRCh37: Chr12:31250818 GRCh38: Chr12:31097884	DDX11		Warsaw breakage syndrome, not provided	Pathogenic (Apr 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 3999536.	NM_030653.4(DDX11):c.788G>A (p.Arg263Gln) GRCh37: Chr12:31242081 GRCh38: Chr12:31089147	DDX11	R263Q, R237Q	Warsaw breakage syndrome	Pathogenic (Jan 1, 2013)	no assertion criteria provided
Select item 837037.	NM_030653.4(DDX11):c.2689_2691del (p.Lys897del) GRCh37: Chr12:31256661-31256663 GRCh38: Chr12:31103727-31103729	DDX11	K897del, K871del, E895del, K847del	Warsaw breakage syndrome	Pathogenic (Feb 12, 2010)	no assertion criteria provided
Select item 836938.	NM_030653.4(DDX11):c.2271+2T>C GRCh37: Chr12:31255247 GRCh38: Chr12:31102313	DDX11		Warsaw breakage syndrome	Pathogenic (Feb 12, 2010)	no assertion criteria provided

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Items: 38