"GeneDx"[submitter] AND "SECISBP2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 452803	NM_024077.5(SECISBP2):c.283del (p.Tyr95fs)	SECISBP2 (Y95fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 3368119	NM_024077.5(SECISBP2):c.553G>A (p.Ala185Thr)	SECISBP2 (A112T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 452802	NM_024077.5(SECISBP2):c.589C>T (p.Arg197Ter)	SECISBP2 (R197* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3343868	NM_024077.5(SECISBP2):c.1880G>A (p.Arg627His)	SECISBP2 (R332H +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368661	NM_024077.5(SECISBP2):c.2508G>A (p.Leu836=)	SECISBP2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1317919	NM_001371202.1(SEMA4D):c.1883-64C>T	SECISBP2, SEMA4D (L662F)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

ClinVar