"GeneDx"[submitter] AND "LOC130058357"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 58621	GRCh38/hg38 16p13.3(chr16:3493167-3993345)x3	ADCY9, C16orf90 +29 more	Copy number gain	See cases	GPathogenic
Select item 59431	GRCh38/hg38 16p13.3(chr16:3861794-3904192)x1	CREBBP, LOC125146381 +4 more	Copy number loss	See cases	GPathogenic
Select item 2582106	NM_004380.3(CREBBP):c.79A>T (p.Ser27Cys)	CREBBP, LOC130058357 (S27C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305562	NM_004380.3(CREBBP):c.38A>G (p.Lys13Arg)	CREBBP, LOC130058357 (K13R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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