PARTICL[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 1316600	NC_000002.12:g.85538732C>T	LOC129934213, MAT2A +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1317699	NC_000002.12:g.85538814G>T	MAT2A, PARTICL	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign

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