C2675512[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138926	NM_000975.4(RPL11):c.-37C>G	LOC129929673, RPL11	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia +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 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 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 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 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 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 296819	NM_000975.5(RPL11):c.270G>A (p.Arg90=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 7	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 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 296821	NM_000975.5(RPL11):c.339C>T (p.Ile113=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +2 more	GBenign
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 296822	NM_000975.5(RPL11):c.*52A>G	RPL11	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign