MYOCD-AS1[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
Select item 689482	NC_000017.11:g.12269251_12706280del	LINC00670, LOC125177420 +5 more	Deletion	Prune belly syndrome +1 more	GPathogenic
Select item 3235931	GRCh38/hg38 17p12(chr17:12453983-12791857)	ARHGAP44, ARHGAP44-AS1 +7 more	Copy number loss	Megabladder, congenital	GLikely pathogenic
Select item 1182207	NM_001146312.3(MYOCD):c.56-174T>C	MYOCD, MYOCD-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3167511	NM_001146312.3(MYOCD):c.82A>G (p.Arg28Gly)	MYOCD, MYOCD-AS1 (R28G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235702	NM_001146312.3(MYOCD):c.109G>C (p.Gly37Arg)	MYOCD, MYOCD-AS1 (G37R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar