"GeneDx"[submitter] AND "RPL11"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1241541	NC_000001.11:g.23691715C>T	RPL11	Single nucleotide variant	not provided	GBenign
Select item 1266410	NC_000001.11:g.23691734C>T	RPL11	Single nucleotide variant	not provided	GBenign
Select item 508925	NM_000975.5(RPL11):c.6+19G>T	LOC129929673, RPL11	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 379217	NM_000975.5(RPL11):c.6+50G>T	RPL11, LOC129929673	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1243261	NM_000975.5(RPL11):c.6+68G>T	LOC129929673, RPL11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251916	NM_000975.5(RPL11):c.7-146T>C	RPL11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289189	NM_000975.5(RPL11):c.7-134T>G	RPL11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266155	NM_000975.5(RPL11):c.7-100T>C	RPL11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 445550	NM_000975.5(RPL11):c.7-20G>T	RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +1 more	GBenign/Likely benign
Select item 296815	NM_000975.5(RPL11):c.30C>T (p.Asn10=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +2 more	GBenign/Likely benign
Select item 1708160	NM_000975.5(RPL11):c.94_97del (p.Asp31_Arg32insTer)	RPL11	Microsatellite (nonsense)	not provided +1 more	GPathogenic
Select item 280297	NM_000975.5(RPL11):c.116dup (p.Leu40fs)	RPL11 (L40fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 451147	NM_000975.5(RPL11):c.143_144del (p.Pro48fs)	RPL11 (P48fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 5751	NM_000975.5(RPL11):c.223C>T (p.Arg75Ter)	RPL11 (R75* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1244097	NM_000975.5(RPL11):c.264+67A>G	RPL11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1309088	NM_000975.5(RPL11):c.297C>G (p.Phe99Leu)	RPL11 (F98L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 296821	NM_000975.5(RPL11):c.339C>T (p.Ile113=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +2 more	GBenign
Select item 694738	NM_000975.5(RPL11):c.391_392insSVAelement	RPL11	Insertion	not provided	GPathogenic
Select item 1293642	NM_000975.5(RPL11):c.396+127_396+129del	RPL11	Microsatellite (intron variant)	not provided	GBenign
Select item 390432	NM_000975.5(RPL11):c.397-4A>G	RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 7 +2 more	GLikely benign
Select item 1192787	NM_000975.5(RPL11):c.397-2A>G	RPL11	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 429560	NM_000975.5(RPL11):c.444_445dup (p.Gly149fs)	RPL11 (G148fs +1 more)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 1265306	NM_000975.5(RPL11):c.507+39A>G	RPL11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 296822	NM_000975.5(RPL11):c.*52A>G	RPL11	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1266412	NM_000975.5(RPL11):c.*148C>T	RPL11	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 25