"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "LOXHD1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 547922	NM_001384474.1(LOXHD1):c.6497C>G (p.Pro2166Arg)	LOXHD1 (P2104R +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 47945	NM_001384474.1(LOXHD1):c.5410G>A (p.Glu1804Lys)	LOXHD1 (E1742K +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77 +2 more	GUncertain significance
Select item 745284	NM_001384474.1(LOXHD1):c.4244G>A (p.Arg1415Gln)	LOXHD1 (R304Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 228819	NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro)	LOXHD1 (R899P)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1437596	NM_001384474.1(LOXHD1):c.1562A>G (p.Asn521Ser)	LOXHD1 (N521S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77 +1 more	GUncertain significance
Select item 890154	NM_001384474.1(LOXHD1):c.197C>T (p.Thr66Met)	LOXHD1 (T66M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar