"GeneDx"[submitter] AND "RPL18"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 1286119	NM_000979.4(RPL18):c.297+48TGCTG[11]	RPL18	Microsatellite (intron variant)	not provided	GBenign
Select item 1231533	NM_000979.4(RPL18):c.297+48TGCTG[10]	RPL18	Microsatellite (intron variant)	not provided	GBenign
Select item 1226288	NM_000979.4(RPL18):c.297+48TGCTG[8]	RPL18	Microsatellite (intron variant)	not provided	GBenign
Select item 1223034	NM_000979.4(RPL18):c.297+48TGCTG[9]	RPL18	Microsatellite (intron variant)	not provided	GBenign
Select item 1266891	NM_000979.4(RPL18):c.199-182dup	RPL18	Duplication (intron variant)	not provided	GBenign
Select item 1229438	NM_000979.4(RPL18):c.198+139G>A	RPL18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222351	NM_000979.4(RPL18):c.91-94A>C	RPL18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257922	NM_000979.4(RPL18):c.4-173C>T	RPL18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278074	NM_000979.4(RPL18):c.3+150A>G	LOC130064867, RPL18	Single nucleotide variant (intron variant)	not provided	GBenign