Related gene-specific medical variations for Gene (Select 6135) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3040903	NM_000975.5(RPL11):c.-7C>T	LOC129929673, RPL11	Single nucleotide variant (5 prime UTR variant)	RPL11-related disorder	GLikely benign
Select item 2994422	NM_000975.5(RPL11):c.6+10T>A	LOC129929673, RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2893716	NM_000975.5(RPL11):c.6+8G>T	LOC129929673, RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2875516	NM_000975.5(RPL11):c.6+19G>C	LOC129929673, RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2739493	NM_000975.5(RPL11):c.6+3G>A	LOC129929673, RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2713583	NM_000975.5(RPL11):c.6+12G>C	LOC129929673, RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
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 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 2203031	NM_000975.5(RPL11):c.6+18G>A	LOC129929673, RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GBenign
Select item 2105799	NM_000975.5(RPL11):c.6+16C>G	LOC129929673, RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1902486	NM_000975.5(RPL11):c.6+20A>T	LOC129929673, RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1808450	GRCh37/hg19 1p36.11(chr1:23980892-24024498)x1	RPL11	Copy number loss	not provided	GPathogenic
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 1632651	NM_000975.5(RPL11):c.6+9C>T	LOC129929673, RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GBenign
Select item 1628457	NM_000975.5(RPL11):c.6+15C>T	LOC129929673, RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1627562	NM_000975.5(RPL11):c.6+18_6+19delinsAT	LOC129929673, RPL11	Indel (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1567321	NM_000975.5(RPL11):c.6+16C>T	LOC129929673, RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1567257	NM_000975.5(RPL11):c.6+14A>G	LOC129929673, RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1243261	NM_000975.5(RPL11):c.6+68G>T	LOC129929673, RPL11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 698043	NM_000975.5(RPL11):c.6+8G>C	LOC129929673, RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 579074	NM_000975.5(RPL11):c.5C>T (p.Ala2Val)	LOC129929673, RPL11 (A2V)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 532178	NM_000975.5(RPL11):c.4G>T (p.Ala2Ser)	LOC129929673, RPL11 (A2S)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
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 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 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 138926	NM_000975.4(RPL11):c.-37C>G	LOC129929673, RPL11	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign

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Links from Gene

Items: 28