"GeneDx"[submitter] AND "LOC126862785"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	LOC130062765, LOC130062766 +572 more	Copy number loss	See cases	GPathogenic
Select item 152928	GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1	ADNP2, ATP9B +429 more	Copy number loss	See cases	GPathogenic
Select item 60003	GRCh38/hg38 18q21.33-23(chr18:62999696-80209986)x1	ADNP2, ATP9B +373 more	Copy number loss	See cases	GPathogenic
Select item 1217952	NM_173630.4(RTTN):c.5541+283C>G	LOC126862785, RTTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 386468	NM_173630.4(RTTN):c.5541+16G>T	LOC126862785, RTTN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 373582	NM_173630.4(RTTN):c.5527G>C (p.Asp1843His)	LOC126862785, RTTN (D1843H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3252889	NM_173630.4(RTTN):c.5420A>G (p.Lys1807Arg)	LOC126862785, RTTN (K1807R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700810	NM_173630.4(RTTN):c.5357C>T (p.Thr1786Met)	LOC126862785, RTTN (T1786M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329763	NM_173630.4(RTTN):c.5349G>C (p.Leu1783Phe)	LOC126862785, RTTN (L1783F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar