"GeneDx"[submitter] AND "RPL9"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1264177	NM_000661.5(RPL9):c.472+92C>T	RPL9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273476	NM_000661.5(RPL9):c.392-71A>G	RPL9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289405	NM_000661.5(RPL9):c.391+169A>G	RPL9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268644	NM_000661.5(RPL9):c.391+155_391+156insC	RPL9	Insertion (intron variant)	not provided	GBenign
Select item 1235523	NM_000661.5(RPL9):c.391+16C>G	RPL9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265779	NM_000661.5(RPL9):c.366T>C (p.Tyr122=)	RPL9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1291998	NM_000661.5(RPL9):c.258+175A>G	RPL9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222538	NM_000661.5(RPL9):c.258+52C>T	RPL9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289596	NM_000661.5(RPL9):c.162+90A>G	RPL9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244504	NM_000661.5(RPL9):c.-1-146_-1-145del	RPL9	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1242166	NC_000004.12:g.39458708G>A	LIAS, RPL9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224751	NC_000004.12:g.39458732C>G	LIAS, RPL9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204365	NC_000004.12:g.39458793C>A	RPL9, LIAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294864	NC_000004.12:g.39458870C>G	LIAS, LOC112939935 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300810	NC_000004.12:g.39458888T>C	LIAS, LOC112939935 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	GPathogenic