"Genetic Services Laboratory, University of Chicago"[submitter] AND "R - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2435479	NM_001022.4(RPS19):c.1-9C>T	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 1	GUncertain significance
Select item 436552	NM_001022.4(RPS19):c.1-7C>T	RPS19	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 329391	NM_001022.4(RPS19):c.60C>G (p.Ala20=)	RPS19	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +4 more	GBenign/Likely benign
Select item 329392	NM_001022.4(RPS19):c.68A>G (p.Lys23Arg)	RPS19 (K23R)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +3 more	GConflicting classifications of pathogenicity
Select item 1161613	NM_001022.4(RPS19):c.192G>C (p.Leu64=)	RPS19 (V69L)	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1336920	NM_001022.4(RPS19):c.276C>T (p.Phe92=)	RPS19 (Q97*)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1338146	NM_001022.4(RPS19):c.285C>T (p.Gly95=)	RPS19 (L100F)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 1338641	NM_001022.4(RPS19):c.302G>A (p.Arg101His)	RPS19 (R101H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1338436	NM_001022.4(RPS19):c.302G>C (p.Arg101Pro)	RPS19 (R101P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 436553	NM_001022.4(RPS19):c.356+3A>C	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 1	GLikely pathogenic
Select item 1336106	NM_001022.4(RPS19):c.387A>G (p.Arg129=)	RPS19 (R134G)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 212065	NM_001022.4(RPS19):c.411+12G>A	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 1 +3 more	GBenign