"GeneDx"[submitter] AND "LOC130060418"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60429	GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1	ADORA2B, ALKBH5 +199 more	Copy number loss	See cases	GPathogenic
Select item 60433	GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1	ALKBH5, ATPAF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 60439	GRCh38/hg38 17p11.2(chr17:16817557-18362819)x1	ALKBH5, ATPAF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 58694	GRCh38/hg38 17p11.2(chr17:17667721-18301995)x3	ALKBH5, ATPAF2 +67 more	Copy number gain	See cases	GPathogenic
Select item 1802037	NM_016239.4(MYO15A):c.9401G>A (p.Arg3134Gln)	LOC130060418, MYO15A (R3134Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573586	NM_016239.4(MYO15A):c.9408G>C (p.Trp3136Cys)	LOC130060418, MYO15A (W3136C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GPathogenic/Likely pathogenic
Select item 717666	NM_016239.4(MYO15A):c.9423C>T (p.Ile3141=)	LOC130060418, MYO15A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 515525	NM_016239.4(MYO15A):c.9429C>T (p.Thr3143=)	LOC130060418, MYO15A	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign

ClinVar