ClinVar for MedGen (Select 436451) - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442203	NM_000975.5(RPL11):c.28A>T (p.Asn10Tyr)	RPL11 (N10Y +1 more)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 7	GUncertain significance
Select item 2435473	NM_000975.5(RPL11):c.139A>G (p.Thr47Ala)	RPL11 (T46A +1 more)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 7	GUncertain significance
Select item 2435472	NM_000975.5(RPL11):c.264+3G>A	RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2435471	NM_000975.5(RPL11):c.238GAA[1] (p.Glu81del)	RPL11 (E80del +1 more)	Microsatellite (inframe_deletion)	Diamond-Blackfan anemia 7	GUncertain significance
Select item 2431941	NM_000975.5(RPL11):c.95_96del (p.Arg32fs)	RPL11 (R31fs +1 more)	Deletion (frameshift variant)	Diamond-Blackfan anemia 7	GPathogenic
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 1708160	NM_000975.5(RPL11):c.94_97del (p.Asp31_Arg32insTer)	RPL11	Microsatellite (nonsense)	not provided +1 more	GPathogenic
Select item 1705531	NM_000975.5(RPL11):c.124C>T (p.Gln42Ter)	RPL11 (Q41* +1 more)	Single nucleotide variant (nonsense)	Diamond-Blackfan anemia 7	GPathogenic
Select item 1656133	NM_000975.5(RPL11):c.158-18G>C	RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +1 more	GBenign
Select item 1366485	NM_000975.5(RPL11):c.68A>G (p.Asn23Ser)	RPL11 (N22S +1 more)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 1010860	NM_000975.5(RPL11):c.452T>C (p.Ile151Thr)	RPL11 (I150T +1 more)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
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 961228	NM_000975.5(RPL11):c.14A>G (p.Gln5Arg)	RPL11 (Q5R +1 more)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 875056	NM_000975.5(RPL11):c.287A>G (p.Lys96Arg)	RPL11 (K95R +1 more)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 7	GUncertain significance
Select item 875055	NM_000975.5(RPL11):c.264+9A>T	RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 7 +1 more	GConflicting classifications of pathogenicity
Select item 695512	NM_000975.5(RPL11):c.396+9A>G	RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 7 +1 more	GConflicting classifications of pathogenicity
Select item 522687	NM_000975.5(RPL11):c.43_49del (p.Leu15fs)	RPL11 (L14fs +1 more)	Deletion (frameshift variant)	Diamond-Blackfan anemia 7	GPathogenic
Select item 390432	NM_000975.5(RPL11):c.397-4A>G	RPL11	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
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 296821	NM_000975.5(RPL11):c.339C>T (p.Ile113=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +2 more	GBenign
Select item 296820	NM_000975.5(RPL11):c.306T>C (p.Thr102=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GConflicting classifications of pathogenicity
Select item 296819	NM_000975.5(RPL11):c.270G>A (p.Arg90=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 7	GUncertain significance
Select item 296818	NM_000975.5(RPL11):c.158-7C>T	RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +1 more	GConflicting classifications of pathogenicity
Select item 296817	NM_000975.5(RPL11):c.153C>T (p.Ser51=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GBenign/Likely benign
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 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 296814	NM_000975.5(RPL11):c.-14T>C	LOC129929673, RPL11	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 7	GUncertain significance
Select item 238201	NM_000975.5(RPL11):c.258T>G (p.Gly86=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 7 +1 more	GConflicting classifications of pathogenicity
Select item 138926	NM_000975.4(RPL11):c.-37C>G	LOC129929673, RPL11	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 100641	NM_000975.5(RPL11):c.204del (p.Ile68fs)	RPL11 (I68fs +1 more)	Deletion (frameshift variant)	Diamond-Blackfan anemia 7	GPathogenic
Select item 100640	NM_000975.5(RPL11):c.476_477del (p.Lys159fs)	RPL11 (K158fs +1 more)	Deletion (frameshift variant)	Diamond-Blackfan anemia 7	GPathogenic
Select item 5754	NM_000975.5(RPL11):c.158-1G>A	RPL11	Single nucleotide variant (splice acceptor variant)	Diamond-Blackfan anemia	GPathogenic
Select item 5753	NM_000975.5(RPL11):c.479AGG[1] (p.Glu161del)	RPL11 (E160del +1 more)	Microsatellite (inframe_deletion)	Diamond-Blackfan anemia 7	GPathogenic
Select item 5752	NM_000975.5(RPL11):c.60_61del (p.Cys21fs)	RPL11 (C20fs +1 more)	Microsatellite (frameshift variant)	Diamond-Blackfan anemia +2 more	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

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Items: 35