Related gene-specific medical variations for Gene (Select 5962) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360086	NM_002906.4(RDX):c.1344+4A>G	RDX	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3359727	NM_002906.4(RDX):c.263A>G (p.Asp88Gly)	RDX (D56G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3061950	NM_002906.4(RDX):c.295C>T (p.Gln99Ter)	RDX (Q67* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GLikely pathogenic
Select item 2428636	NM_002906.4(RDX):c.1501T>C (p.Ser501Pro)	RDX (S154P +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GUncertain significance
Select item 1527668	GRCh37/hg19 11q22.3(chr11:110130586-110269484)	RDX	Copy number gain	not specified	GUncertain significance
Select item 1325000	NM_002906.4(RDX):c.1141C>T (p.Arg381Ter)	RDX (R245* +2 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GLikely pathogenic
Select item 377252	NM_002906.4(RDX):c.467+1G>A	RDX	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic

ClinVar