ClinVar for MedGen (Select 815873) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 17

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26269651.	NM_015896.4(ZMYND10):c.1248-1G>T GRCh37: Chr3:50378917 GRCh38: Chr3:50341486	ZMYND10		Primary ciliary dyskinesia 22	Likely pathogenic (Sep 25, 2023)	criteria provided, single submitter
Select item 24314682.	NM_015896.4(ZMYND10):c.510+1del GRCh37: Chr3:50380737 GRCh38: Chr3:50343306	ZMYND10		Primary ciliary dyskinesia 22	Likely pathogenic (Sep 23, 2022)	criteria provided, single submitter
Select item 18062843.	NM_015896.4(ZMYND10):c.373-1G>A GRCh37: Chr3:50380876 GRCh38: Chr3:50343445	ZMYND10		Primary ciliary dyskinesia 22	Uncertain significance (May 25, 2020)	criteria provided, single submitter
Select item 17055064.	NM_015896.4(ZMYND10):c.490C>T (p.Gln164Ter) GRCh37: Chr3:50380758 GRCh38: Chr3:50343327	ZMYND10	Q164*	Primary ciliary dyskinesia 22, Ciliary dyskinesia	Pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13328675.	NM_015896.4(ZMYND10):c.747del (p.Ser250fs) GRCh37: Chr3:50379954 GRCh38: Chr3:50342523	ZMYND10	S245fs, S250fs	Primary ciliary dyskinesia 22	Pathogenic	criteria provided, single submitter
Select item 6460116.	NM_015896.4(ZMYND10):c.235G>A (p.Glu79Lys) GRCh37: Chr3:50381248 GRCh38: Chr3:50343817	ZMYND10	E79K	Primary ciliary dyskinesia 22, Ciliary dyskinesia	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5744737.	NM_015896.4(ZMYND10):c.1171C>T (p.Arg391Trp) GRCh37: Chr3:50379081 GRCh38: Chr3:50341650	ZMYND10	R391W, R386W	Ciliary dyskinesia, Primary ciliary dyskinesia 22	Uncertain significance (Mar 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4548428.	NM_015896.4(ZMYND10):c.637C>T (p.His213Tyr) GRCh37: Chr3:50380412 GRCh38: Chr3:50342981	ZMYND10	H213Y	Inborn genetic diseases, Primary ciliary dyskinesia 22, Ciliary dyskinesia	Uncertain significance (Feb 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4106339.	NM_015896.4(ZMYND10):c.229G>A (p.Ala77Thr) GRCh37: Chr3:50381254 GRCh38: Chr3:50343823	ZMYND10	A77T	Primary ciliary dyskinesia 22, Ciliary dyskinesia	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 24106610.	NM_015896.4(ZMYND10):c.1073A>G (p.Gln358Arg) GRCh37: Chr3:50379289 GRCh38: Chr3:50341858	ZMYND10	Q358R, Q353R	not provided, Ciliary dyskinesia, Primary ciliary dyskinesia 22	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 24106511.	NM_015896.4(ZMYND10):c.1019G>A (p.Arg340Gln) GRCh37: Chr3:50379343 GRCh38: Chr3:50341912	ZMYND10	R340Q, R335Q	Primary ciliary dyskinesia 22, not provided, Ciliary dyskinesia	Benign/Likely benign (Jan 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 6602612.	NM_015896.4(ZMYND10):c.797T>C (p.Leu266Pro) GRCh37: Chr3:50379904 GRCh38: Chr3:50342473	ZMYND10	L266P, L261P	Ciliary dyskinesia	Pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 6602513.	NM_015896.4(ZMYND10):c.593_594del (p.Val198fs) GRCh37: Chr3:50380554-50380555 GRCh38: Chr3:50343123-50343124	ZMYND10	V198fs	Primary ciliary dyskinesia 22	Pathogenic (Aug 8, 2013)	no assertion criteria provided
Select item 6602414.	NM_015896.4(ZMYND10):c.967C>T (p.Gln323Ter) GRCh37: Chr3:50379478 GRCh38: Chr3:50342047	ZMYND10	Q323, Q318	Primary ciliary dyskinesia 22	Pathogenic (Aug 8, 2013)	no assertion criteria provided
Select item 6602315.	NM_015896.4(ZMYND10):c.486dup (p.Ser163fs) GRCh37: Chr3:50380761-50380762 GRCh38: Chr3:50343330-50343331	ZMYND10	S163fs	Primary ciliary dyskinesia 22	Pathogenic (Aug 8, 2013)	no assertion criteria provided
Select item 6602216.	NM_015896.4(ZMYND10):c.300del (p.Phe101fs) GRCh37: Chr3:50381183 GRCh38: Chr3:50343752	ZMYND10	F101fs	Ciliary dyskinesia	Pathogenic (Oct 9, 2022)	criteria provided, single submitter
Select item 6602117.	NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly) GRCh37: Chr3:50382964 GRCh38: Chr3:50345533	ZMYND10	V16G	Primary ciliary dyskinesia 22, not provided, Ciliary dyskinesia	Pathogenic (Apr 7, 2023)	criteria provided, multiple submitters, no conflicts