ClinVar for MedGen (Select 339643) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16805121.	NM_001286445.3(RIPOR2):c.1142C>G (p.Thr381Ser) GRCh37: Chr6:24848275 GRCh38: Chr6:24848047	RIPOR2	T352S, T381S, T386S	not provided, Autosomal recessive nonsyndromic hearing loss 104, Autosomal dominant nonsyndromic hearing loss 21	Uncertain significance (Feb 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16805052.	NM_001286445.3(RIPOR2):c.1164+482A>G GRCh37: Chr6:24847771 GRCh38: Chr6:24847543	RIPOR2	Y409C	Autosomal recessive nonsyndromic hearing loss 104, Autosomal dominant nonsyndromic hearing loss 21, not provided, Inborn genetic diseases	Uncertain significance (Jan 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 15278643.	NM_001286445.3(RIPOR2):c.1633_1644del (p.Gln545_Lys548del) GRCh37: Chr6:24843303-24843314 GRCh38: Chr6:24843075-24843086	RIPOR2		not provided	Uncertain significance (Oct 23, 2021)	criteria provided, single submitter
Select item 13181004.	NM_001286445.3(RIPOR2):c.502-10A>C GRCh37: Chr6:24865688 GRCh38: Chr6:24865460	RIPOR2		not provided, Autosomal dominant nonsyndromic hearing loss 21, Autosomal recessive nonsyndromic hearing loss 104	Likely benign (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts

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