"Ambry Genetics"[submitter] AND "RPL11"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1751021	NM_000975.5(RPL11):c.6+2T>C	LOC129929673, RPL11	Single nucleotide variant (splice donor variant)	Diamond-Blackfan anemia	GPathogenic
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 1731025	NM_000975.5(RPL11):c.33del (p.Met12fs)	RPL11 (M11fs +1 more)	Deletion (frameshift variant)	Diamond-Blackfan anemia	GPathogenic
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 1150699	NM_000975.5(RPL11):c.33C>T (p.Pro11=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 5752	NM_000975.5(RPL11):c.60_61del (p.Cys21fs)	RPL11 (C20fs +1 more)	Microsatellite (frameshift variant)	RPL11-related condition +2 more	GPathogenic
Select item 1759753	NM_000975.5(RPL11):c.75T>C (p.Cys25=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1770758	NM_000975.5(RPL11):c.102dup (p.Arg35fs)	RPL11 (R34fs +1 more)	Duplication (frameshift variant)	Diamond-Blackfan anemia	GPathogenic
Select item 296816	NM_000975.5(RPL11):c.102G>A (p.Thr34=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 1775730	NM_000975.5(RPL11):c.158-2A>C	RPL11	Single nucleotide variant (splice acceptor variant)	Diamond-Blackfan anemia	GPathogenic
Select item 1775715	NM_000975.5(RPL11):c.158-1G>C	RPL11	Single nucleotide variant (splice acceptor variant)	Diamond-Blackfan anemia	GPathogenic
Select item 698637	NM_000975.5(RPL11):c.171C>G (p.Val57=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1780566	NM_000975.5(RPL11):c.180T>C (p.Phe60=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1590382	NM_000975.5(RPL11):c.213C>T (p.His71=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GBenign/Likely benign
Select item 521301	NM_000975.5(RPL11):c.224G>A (p.Arg75Gln)	RPL11 (R75Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1798396	NM_000975.5(RPL11):c.298_299del (p.Ser100fs)	RPL11 (S100fs +1 more)	Microsatellite (frameshift variant)	Diamond-Blackfan anemia	GPathogenic
Select item 463368	NM_000975.5(RPL11):c.300A>G (p.Ser100=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1729829	NM_000975.5(RPL11):c.328C>T (p.Gln110Ter)	RPL11 (Q110* +1 more)	Single nucleotide variant (nonsense)	Diamond-Blackfan anemia	GPathogenic
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 1736518	NM_000975.5(RPL11):c.396+3A>G	RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 695512	NM_000975.5(RPL11):c.396+9A>G	RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +1 more	GConflicting classifications of pathogenicity
Select item 1192787	NM_000975.5(RPL11):c.397-2A>G	RPL11	Single nucleotide variant (splice acceptor variant)	Diamond-Blackfan anemia +1 more	GLikely pathogenic
Select item 1742180	NM_000975.5(RPL11):c.465_475dup (p.Lys159fs)	RPL11 (K159fs +1 more)	Duplication (frameshift variant)	Diamond-Blackfan anemia	GLikely pathogenic
Select item 992969	NM_000975.5(RPL11):c.465_466del (p.His155fs)	RPL11 (H154fs +1 more)	Microsatellite (frameshift variant)	Diamond-Blackfan anemia +1 more	GPathogenic/Likely pathogenic
Select item 1744572	NM_000975.5(RPL11):c.498C>T (p.Phe166=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1745019	NM_000975.5(RPL11):c.504G>A (p.Gln168=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1745252	NM_000975.5(RPL11):c.508-9_508-5del	RPL11	Microsatellite (intron variant)	Diamond-Blackfan anemia 7 +1 more	GConflicting classifications of pathogenicity
Select item 1745233	NM_000975.5(RPL11):c.508-3C>G	RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1745226	NM_000975.5(RPL11):c.508-1G>A	RPL11	Single nucleotide variant (splice acceptor variant)	Diamond-Blackfan anemia	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 29