ClinVar for MedGen (Select 373370) - ClinVar - NCBI

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Items: 16

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 12993121.	NM_003672.4(CDC14A):c.50-1G>T GRCh37: Chr1:100819317 GRCh38: Chr1:100353761	CDC14A		Autosomal recessive nonsyndromic hearing loss 32	Likely pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 11927122.	NM_003672.4(CDC14A):c.839-124T>C GRCh37: Chr1:100933388 GRCh38: Chr1:100467832	CDC14A		not provided, Autosomal recessive nonsyndromic hearing loss 32	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11927113.	NM_003672.4(CDC14A):c.-47T>C GRCh37: Chr1:100818464 GRCh38: Chr1:100352908	CDC14A		Autosomal recessive nonsyndromic hearing loss 32	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 11817454.	NM_003672.4(CDC14A):c.1251-139A>G GRCh37: Chr1:100961419 GRCh38: Chr1:100495863	CDC14A		Autosomal recessive nonsyndromic hearing loss 32, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10285175.	NM_003672.4(CDC14A):c.1745G>A (p.Arg582His) GRCh37: Chr1:100964808 GRCh38: Chr1:100499252	CDC14A	R524H, R289H, R582H	not provided, Autosomal recessive nonsyndromic hearing loss 32	Uncertain significance (Mar 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10285166.	NM_003672.4(CDC14A):c.1251-5C>T GRCh37: Chr1:100961553 GRCh38: Chr1:100495997	CDC14A		Autosomal recessive nonsyndromic hearing loss 32, not provided	Conflicting interpretations of pathogenicity (Mar 9, 2022)	criteria provided, conflicting interpretations
Select item 6670847.	NM_003672.4(CDC14A):c.457-6T>C GRCh37: Chr1:100908484 GRCh38: Chr1:100442928	CDC14A		Autosomal recessive nonsyndromic hearing loss 32, not specified, not provided	Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6382908.	NM_003672.4(CDC14A):c.417C>G (p.Tyr139Ter) GRCh37: Chr1:100905515 GRCh38: Chr1:100439959	CDC14A	Y139, Y81	Autosomal recessive nonsyndromic hearing loss 32	Pathogenic (Nov 5, 2018)	criteria provided, single submitter
Select item 6382899.	NM_003672.4(CDC14A):c.959A>C (p.Gln320Pro) GRCh37: Chr1:100933632 GRCh38: Chr1:100468076	CDC14A	Q320P, Q262P, Q27P	Autosomal recessive nonsyndromic hearing loss 32	Likely pathogenic (Nov 5, 2018)	criteria provided, single submitter
Select item 55943910.	NM_003672.4(CDC14A):c.1033C>T (p.Arg345Ter) GRCh37: Chr1:100949903 GRCh38: Chr1:100484347	CDC14A	R345, R52, R287*	Ear malformation, Autosomal recessive nonsyndromic hearing loss 32	Pathogenic/Likely pathogenic (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55943811.	NM_003672.4(CDC14A):c.839-3C>G GRCh37: Chr1:100933509 GRCh38: Chr1:100467953	CDC14A		Autosomal recessive nonsyndromic hearing loss 32	Pathogenic (Aug 3, 2018)	no assertion criteria provided
Select item 55943712.	NM_003672.4(CDC14A):c.376del (p.Tyr126fs) GRCh37: Chr1:100889844 GRCh38: Chr1:100424288	CDC14A	Y126fs, Y68fs	Autosomal recessive nonsyndromic hearing loss 32	Pathogenic (Aug 3, 2018)	no assertion criteria provided
Select item 55943613.	NM_003672.4(CDC14A):c.934C>G (p.Arg312Gly) GRCh37: Chr1:100933607 GRCh38: Chr1:100468051	CDC14A	R312G, R19G, R254G	not provided, Autosomal recessive nonsyndromic hearing loss 32	Pathogenic/Likely pathogenic (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55943514.	NM_003672.4(CDC14A):c.935G>A (p.Arg312Gln) GRCh37: Chr1:100933608 GRCh38: Chr1:100468052	CDC14A	R312Q, R254Q, R19Q	Autosomal recessive nonsyndromic hearing loss 32	Likely pathogenic (Nov 5, 2018)	criteria provided, single submitter
Select item 23514615.	NM_003672.4(CDC14A):c.1015C>T (p.Arg339Ter) GRCh37: Chr1:100949885 GRCh38: Chr1:100484329	CDC14A	R339, R281, R46*	Autosomal recessive nonsyndromic hearing loss 32, not provided	Pathogenic (Feb 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23514516.	NM_003672.4(CDC14A):c.1126C>T (p.Arg376Ter) GRCh37: Chr1:100949996 GRCh38: Chr1:100484440	CDC14A	R376, R318, R83*	Ear malformation, Autosomal recessive nonsyndromic hearing loss 32	Pathogenic/Likely pathogenic (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts