"GeneDx"[submitter] AND "LOC129938008"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 261205	NM_020166.5(MCCC1):c.-24A>G	LOC129938008, MCCC1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 138180	NM_020166.5(MCCC1):c.-25C>A	LOC129938008, MCCC1	Single nucleotide variant (5 prime UTR variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency +2 more	GBenign
Select item 511491	NM_020166.5(MCCC1):c.-43_-40del	LOC129938008, MCCC1	Deletion (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 391684	NM_020166.5(MCCC1):c.-42C>T	LOC129938008, MCCC1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1197381	NM_020166.5(MCCC1):c.-53G>A	LOC129938008, MCCC1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign

ClinVar