"Laboratory of Prof. Karen Avraham, Tel Aviv University"[submitter] AN - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 236044	NM_001384474.1(LOXHD1):c.6080dup (p.Gly2028fs)	LOXHD1 (G1966fs +4 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 77	GPathogenic
Select item 30990	NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter)	LOXHD1 (R1572* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77 +2 more	GPathogenic/Likely pathogenic
Select item 289894	NM_001384474.1(LOXHD1):c.2863G>C (p.Glu955Gln)	LOXHD1 (E955Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77 +2 more	GConflicting classifications of pathogenicity
Select item 2148078	NM_001384474.1(LOXHD1):c.1856G>A (p.Arg619Gln)	LOXHD1 (R619Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 47918	NM_001384474.1(LOXHD1):c.1571G>A (p.Arg524His)	LOXHD1 (R524H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77 +3 more	GConflicting classifications of pathogenicity
Select item 813824	NM_001384474.1(LOXHD1):c.46del (p.Leu16fs)	LOXHD1 (L16fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 77	GPathogenic

ClinVar