"GeneDx"[submitter] AND "MYBBP1A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 60131	GRCh38/hg38 17p13.2(chr17:4201600-4574195)x3	ANKFY1, GGT6 +20 more	Copy number gain	See cases	GUncertain significance
Select item 146057	GRCh38/hg38 17p13.2(chr17:4217106-4538953)x3	ANKFY1, LOC121587571 +17 more	Copy number gain	See cases	GUncertain significance
Select item 3365986	NM_014520.4(MYBBP1A):c.2480G>T (p.Arg827Leu)	MYBBP1A (R827L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365985	NM_014520.4(MYBBP1A):c.1052A>G (p.Glu351Gly)	MYBBP1A (E351G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1182089	NM_014520.4(MYBBP1A):c.22C>G (p.Gln8Glu)	MYBBP1A (Q8E)	Single nucleotide variant (missense variant)	not provided	GBenign

ClinVar