"GeneReviews"[submitter] AND "LOC109461484"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	A2ML1, A2ML1-AS1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 38905	NM_001007026.1(ATN1):c.1462CAG[(90_93)] (p.Gln488[(90-93)])	LOC109461484, ATN1	Microsatellite	Dentatorubral-pallidoluysian atrophy	GPathogenic
Select item 38904	NM_001007026.1(ATN1):c.1462CAG[(6_35)] (p.Gln488[(6-35)])	ATN1, LOC109461484	Microsatellite	Dentatorubral-pallidoluysian atrophy	GBenign
Select item 37031	NM_001007026.1(ATN1):c.1462CAG[49_55] (p.Gln488[49_55])	ATN1, LOC109461484	Microsatellite	Dentatorubral-pallidoluysian atrophy	GPathogenic

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