"GeneDx"[submitter] AND "LOC105371050"[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 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 154402	GRCh38/hg38 16p13.3(chr16:2365461-2764284)x1	AMDHD2, ATP6V0C +58 more	Copy number loss	See cases	GUncertain significance
Select item 1222084	NM_001761.3(CCNF):c.1886-240G>A	CCNF, LOC105371050	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228978	NM_001761.3(CCNF):c.1886-133A>G	CCNF, LOC105371050	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2501337	NM_001761.3(CCNF):c.2156G>T (p.Gly719Val)	CCNF, LOC105371050 (G411V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar