Related gene-specific medical variations for Gene (Select 51102) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248005	NC_000001.10:g.(?_29542497)_(29543217_?)del	MECR	Deletion	not provided	GPathogenic
Select item 3248004	NC_000001.10:g.(?_29520534)_(29543217_?)del	MECR	Deletion	not provided	GPathogenic
Select item 3248003	NC_000001.10:g.(?_29527008)_(29527121_?)del	MECR	Deletion	not provided	GPathogenic
Select item 3000378	NM_016011.5(MECR):c.653+18C>T	LOC129929953, MECR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987458	NM_016011.5(MECR):c.653+17G>A	LOC129929953, MECR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986178	NM_016011.5(MECR):c.653+12A>T	LOC129929953, MECR	Single nucleotide variant (intron variant)	not provided	GLikely benign

ClinVar