ClinVar for MedGen (Select 334525) - ClinVar - NCBI

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Items: 17

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18058281.	NM_178335.3(CCDC50):c.372G>C (p.Glu124Asp) GRCh37: Chr3:191087749 GRCh38: Chr3:191369960	CCDC50	E124D	Autosomal dominant nonsyndromic hearing loss 44	Uncertain significance (Aug 28, 2019)	criteria provided, single submitter
Select item 13766072.	NM_178335.3(CCDC50):c.227G>A (p.Arg76His) GRCh37: Chr3:191075901 GRCh38: Chr3:191358112	CCDC50	R76H	Autosomal dominant nonsyndromic hearing loss 44, not provided	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13302173.	NM_178335.3(CCDC50):c.1356_1386del (p.Asp452fs) GRCh37: Chr3:191107318-191107348 GRCh38: Chr3:191389529-191389559	CCDC50	D276fs, D452fs	Autosomal dominant nonsyndromic hearing loss 44	Pathogenic (Dec 27, 2021)	criteria provided, single submitter
Select item 11927024.	NM_178335.3(CCDC50):c.976+56A>G GRCh37: Chr3:191093434 GRCh38: Chr3:191375645	CCDC50		Autosomal dominant nonsyndromic hearing loss 44, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11851175.	NM_178335.3(CCDC50):c.679C>T (p.Arg227Trp) GRCh37: Chr3:191093081 GRCh38: Chr3:191375292	CCDC50	R227W	not provided	Uncertain significance (May 26, 2022)	criteria provided, single submitter
Select item 11787306.	NM_178335.3(CCDC50):c.1092+58C>T GRCh37: Chr3:191098121 GRCh38: Chr3:191380332	CCDC50		Autosomal dominant nonsyndromic hearing loss 44, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10325577.	NM_178335.3(CCDC50):c.199C>G (p.Leu67Val) GRCh37: Chr3:191075873 GRCh38: Chr3:191358084	CCDC50	L67V	Autosomal dominant nonsyndromic hearing loss 44	Uncertain significance (May 8, 2018)	criteria provided, single submitter
Select item 1628578.	NM_178335.3(CCDC50):c.883G>T (p.Asp295Tyr) GRCh37: Chr3:191093285 GRCh38: Chr3:191375496	CCDC50	D295Y	not specified, Autosomal dominant nonsyndromic hearing loss 44, not provided	Benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 481619.	NM_178335.3(CCDC50):c.995T>C (p.Met332Thr) GRCh37: Chr3:191097966 GRCh38: Chr3:191380177	CCDC50	M332T, M156T	not specified, not provided, Autosomal dominant nonsyndromic hearing loss 44	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4816010.	NM_178335.3(CCDC50):c.976+6A>G GRCh37: Chr3:191093384 GRCh38: Chr3:191375595	CCDC50		not specified, not provided, Autosomal dominant nonsyndromic hearing loss 44	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4815911.	NM_178335.3(CCDC50):c.908A>G (p.Lys303Arg) GRCh37: Chr3:191093310 GRCh38: Chr3:191375521	CCDC50	K303R	not specified, not provided, Autosomal dominant nonsyndromic hearing loss 44	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4815812.	NM_178335.3(CCDC50):c.773T>A (p.Ile258Asn) GRCh37: Chr3:191093175 GRCh38: Chr3:191375386	CCDC50	I258N	not specified, not provided, Autosomal dominant nonsyndromic hearing loss 44	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4815613.	NM_178335.3(CCDC50):c.651T>C (p.His217=) GRCh37: Chr3:191093053 GRCh38: Chr3:191375264	CCDC50		not specified, not provided, Autosomal dominant nonsyndromic hearing loss 44	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4815514.	NM_178335.3(CCDC50):c.50-4C>G GRCh37: Chr3:191074873 GRCh38: Chr3:191357084	CCDC50		not specified, not provided, Autosomal dominant nonsyndromic hearing loss 44	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4815115.	NM_178335.3(CCDC50):c.1269C>A (p.Ser423=) GRCh37: Chr3:191100561 GRCh38: Chr3:191382772	CCDC50		not specified, not provided, Autosomal dominant nonsyndromic hearing loss 44	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4815016.	NM_178335.3(CCDC50):c.1242+10G>A GRCh37: Chr3:191098731 GRCh38: Chr3:191380942	CCDC50		not specified, not provided, Autosomal dominant nonsyndromic hearing loss 44	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103617.	NM_178335.3(CCDC50):c.1394_1401dup (p.Phe468fs) GRCh37: Chr3:191107355-191107356 GRCh38: Chr3:191389566-191389567	CCDC50	F292fs, F468fs	Autosomal dominant nonsyndromic hearing loss 44	Pathogenic (Jun 1, 2007)	no assertion criteria provided