ClinVar for MedGen (Select 370197) - ClinVar - NCBI

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Items: 9

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 11745261.	NC_000015.9:g.(43851199_43890333)_(43940820_44038794)del GRCh37: Chr15:43851199-44038794	CKMT1A, CKMT1B, PDIA3, CATSPER2, PPIP5K1, STRC		Deafness-infertility syndrome, Autosomal recessive nonsyndromic hearing loss 16	Pathogenic/Likely pathogenic (Nov 1, 2019)	criteria provided, single submitter
Select item 8055312.	NM_153700.2(STRC):c.4917A>C (p.Leu1639=) GRCh37: Chr15:43892808 GRCh38: Chr15:43600610	STRC		not provided, Autosomal recessive nonsyndromic hearing loss 16, Autosomal recessive nonsyndromic hearing loss 16, Spermatogenic failure 7, Deafness-infertility syndrome	Benign/Likely benign (Mar 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6673923.	NC_000015.10:g.(?_43638998)_(43639062_?)del GRCh37: Chr15:43931196-43931260 GRCh38: Chr15:43638998-43639062	CATSPER2, LOC130056949		Rare genetic deafness, Deafness-infertility syndrome	Pathogenic (Feb 24, 2018)	criteria provided, single submitter
Select item 5987494.	Single allele GRCh37: Chr15:43890409-43939642	CKMT1B, STRC, CATSPER2		Deafness-infertility syndrome	Pathogenic (Nov 14, 2017)	criteria provided, single submitter
Select item 5054355.	NM_153700.2(STRC):c.4219-1G>A GRCh37: Chr15:43896351 GRCh38: Chr15:43604153	STRC		Autosomal recessive nonsyndromic hearing loss 16, Rare genetic deafness, Deafness-infertility syndrome, Autosomal recessive nonsyndromic hearing loss 16, Spermatogenic failure 7	Pathogenic/Likely pathogenic (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 2127426.	NM_153700.2(STRC):c.4351C>T (p.Arg1451Ter) GRCh37: Chr15:43896218 GRCh38: Chr15:43604020	STRC	R1451*	Deafness-infertility syndrome, Autosomal recessive nonsyndromic hearing loss 16	Pathogenic/Likely pathogenic (Jul 30, 2020)	criteria provided, multiple submitters, no conflicts
Select item 1653187.	NM_153700.2(STRC):c.3275G>A (p.Cys1092Tyr) GRCh37: Chr15:43903377 GRCh38: Chr15:43611179	STRC	C1092Y	STRC-related condition, Autosomal recessive nonsyndromic hearing loss 16, Deafness-infertility syndrome, Spermatogenic failure 7, not specified, not provided, Autosomal recessive nonsyndromic hearing loss 16	Uncertain significance (Aug 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1653158.	NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter) GRCh37: Chr15:43900289 GRCh38: Chr15:43608091	STRC	R1224*	Rare genetic deafness, Deafness-infertility syndrome, Autosomal recessive nonsyndromic hearing loss 16, Spermatogenic failure 7, not provided, Autosomal recessive nonsyndromic hearing loss 16	Pathogenic (Mar 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 414029.	del(15)(q15.1-q15.3)			Deafness-infertility syndrome	Pathogenic (Aug 9, 2012)	no assertion criteria provided