"GeneDx"[submitter] AND "CFAP44"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC132088858, LOC132088860 +248 more	Copy number gain	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +186 more	Copy number loss	See cases	GPathogenic
Select item 57805	GRCh38/hg38 3q13.2-13.31(chr3:112479482-115774102)x1	ATG3, ATP6V1A +105 more	Copy number loss	See cases	GPathogenic
Select item 1267032	NM_001164496.2(CFAP44):c.4759-3C>T	CFAP44, SPICE1-CFAP44	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 722480	NM_001164496.2(CFAP44):c.652del (p.Arg218fs)	CFAP44, CFAP44-AS1 +1 more (R218fs)	Deletion (frameshift variant)	not provided	GConflicting classifications of pathogenicity

ClinVar