ClinVar for MedGen (Select 481578) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250382	NM_001371333.1(DIABLO):c.248_251del (p.Asp83fs)	DIABLO (D10fs +2 more)	Deletion (frameshift variant +1 more)	Autosomal dominant nonsyndromic hearing loss 64	GLikely pathogenic
Select item 3250381	NM_001371333.1(DIABLO):c.718T>C (p.Ter240Arg)	B3GNT4, DIABLO	Single nucleotide variant (stop lost +1 more)	Autosomal dominant nonsyndromic hearing loss 64	GLikely pathogenic
Select item 2688925	NM_001371333.1(DIABLO):c.234_235del (p.Ser79fs)	DIABLO (S26fs +2 more)	Microsatellite (frameshift variant +1 more)	Autosomal dominant nonsyndromic hearing loss 64	GUncertain significance
Select item 2440779	NM_001371333.1(DIABLO):c.605G>A (p.Arg202Gln)	B3GNT4, DIABLO (R105Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1279938	NM_001371333.1(DIABLO):c.219G>C (p.Leu73Phe)	DIABLO (L20F +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal dominant nonsyndromic hearing loss +1 more	GUncertain significance
Select item 1225653	NM_001371333.1(DIABLO):c.51-318dup	DIABLO	Duplication (5 prime UTR variant +1 more)	Autosomal dominant nonsyndromic hearing loss 64 +1 more	GBenign
Select item 30449	NM_001371333.1(DIABLO):c.377C>T (p.Ser126Leu)	DIABLO (S126L +4 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity

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