"GeneDx"[submitter] AND "CTF1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 44172	NM_001330.5(CTF1):c.120C>T (p.Tyr40=)	CTF1	Single nucleotide variant (synonymous variant +1 more)	Dilated Cardiomyopathy, Dominant +2 more	GBenign
Select item 1318025	NM_001330.5(CTF1):c.145-313_145-312del	CTF1	Deletion (intron variant)	not provided	GLikely benign
Select item 1317560	NM_001330.5(CTF1):c.145-204G>C	CTF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288823	NM_001330.5(CTF1):c.*282C>T	CTF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign

ClinVar