ClinVar for MedGen (Select 481578) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24407791.	NM_001371333.1(DIABLO):c.605G>A (p.Arg202Gln) GRCh37: Chr12:122693043 GRCh38: Chr12:122208496	DIABLO, B3GNT4	R105Q, R129Q, R149Q, R158Q, R202Q	Autosomal dominant nonsyndromic hearing loss 64	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 12799382.	NM_001371333.1(DIABLO):c.219G>C (p.Leu73Phe) GRCh37: Chr12:122702909 GRCh38: Chr12:122218362	DIABLO	L20F, L73F	Autosomal dominant nonsyndromic hearing loss, Autosomal dominant nonsyndromic hearing loss 64	Uncertain significance (Sep 16, 2021)	criteria provided, single submitter
Select item 12256533.	NM_001371333.1(DIABLO):c.51-318dup GRCh37: Chr12:122709500-122709501 GRCh38: Chr12:122224953-122224954	DIABLO		not provided, Autosomal dominant nonsyndromic hearing loss 64	Benign (Oct 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 304494.	NM_001371333.1(DIABLO):c.377C>T (p.Ser126Leu) GRCh37: Chr12:122701355 GRCh38: Chr12:122216808	DIABLO	S126L, S82L, S29L, S73L, S53L	not provided	Pathogenic (Jul 13, 2020)	criteria provided, single submitter

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