"GeneDx"[submitter] AND "LOC130066876"[gene] - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 1247194	NM_006031.6(PCNT):c.54+271_54+275dup	LOC130066876, PCNT	Duplication (intron variant)	not provided	GBenign
Select item 1276503	NM_006031.6(PCNT):c.54+287_54+288insTG	LOC130066876, PCNT	Insertion (intron variant)	not provided	GBenign
Select item 1228060	NM_006031.6(PCNT):c.54+286_54+287insT	LOC130066876, PCNT	Insertion (intron variant)	not provided	GBenign

Format

Sort by

Choose Destination

ClinVar