"MVZ Medizinische Genetik Mainz"[submitter] AND "LOXHD1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066253	NM_001384474.1(LOXHD1):c.6732del (p.Gly2245fs)	LOXHD1 (G2183fs +2 more)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 3234037	NM_001384474.1(LOXHD1):c.4354_4357del (p.Lys1451_Glu1452insTer)	LOXHD1	Deletion (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic