"GeneDx"[submitter] AND "LOC129929424"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 57721	GRCh38/hg38 1p36.22-36.21(chr1:11654070-12768656)x3	C1orf167-AS1, AADACL3 +104 more	Copy number gain	See cases	GUncertain significance
Select item 57722	GRCh38/hg38 1p36.22(chr1:11737130-12169786)x3	AGTRAP, C1orf167 +62 more	Copy number gain	See cases	GUncertain significance
Select item 379192	NM_014874.4(MFN2):c.-150+19C>T	LOC129929424, MFN2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 379548	NM_014874.4(MFN2):c.-150+20G>A	LOC129929424, MFN2	Single nucleotide variant (intron variant)	not specified	GLikely benign