Related gene-specific medical variations for Gene (Select 1591) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362760	NM_000782.5(CYP24A1):c.1238C>A (p.Thr413Lys)	CYP24A1 (T413K)	Single nucleotide variant (missense variant +1 more)	Hypercalcemia, infantile, 1	GUncertain significance
Select item 3341138	NM_000782.5(CYP24A1):c.1039del (p.Gln347fs)	CYP24A1 (Q347fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3248321	NC_000020.10:g.(?_52763705)_(52774629_?)del	CYP24A1	Deletion	not provided	GUncertain significance
Select item 3248320	NC_000020.10:g.(?_52773718)_(52790118_?)del	CYP24A1	Deletion	not provided	GPathogenic
Select item 1526692	GRCh37/hg19 20q13.2(chr20:52765315-52774427)	CYP24A1	Copy number loss	not specified	GUncertain significance
Select item 1324203	NM_000782.5(CYP24A1):c.685A>T (p.Lys229Ter)	CYP24A1 (K229*)	Single nucleotide variant (nonsense)	Hypercalcemia, infantile, 1	GLikely pathogenic
Select item 694500	NM_000782.5(CYP24A1):c.3G>T (p.Met1Ile)	CYP24A1 (M1I)	Single nucleotide variant (missense variant +1 more)	Hypercalcemia, infantile, 1	GLikely pathogenic
Select item 686734	GRCh37/hg19 20q13.2(chr20:52765227-52774449)x1	CYP24A1	Copy number loss	not provided	GUncertain significance
Select item 591540	NM_000782.5(CYP24A1):c.375C>A (p.Tyr125Ter)	CYP24A1 (Y125*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591484	NM_000782.5(CYP24A1):c.259-2A>G	CYP24A1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance