"Fulgent Genetics, Fulgent Genetics"[submitter] AND "RPS19"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 329389	NM_001022.4(RPS19):c.1-14A>G	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 1	GLikely benign
Select item 894042	NM_001022.4(RPS19):c.1-13C>T	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 1	GBenign/Likely benign
Select item 329391	NM_001022.4(RPS19):c.60C>G (p.Ala20=)	RPS19	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +3 more	GBenign/Likely benign
Select item 1565135	NM_001022.4(RPS19):c.72-17C>G	RPS19	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 463374	NM_001022.4(RPS19):c.75C>T (p.Ser25=)	RPS19	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 1496732	NM_001022.4(RPS19):c.128A>G (p.Lys43Arg)	RPS19 (K43R)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 242753	NM_001022.4(RPS19):c.164C>T (p.Thr55Met)	RPS19 (T55M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 894442	NM_001022.4(RPS19):c.183G>A (p.Ala61=)	RPS19 (A66T)	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia 1 +1 more	GLikely benign
Select item 450916	NM_001022.4(RPS19):c.208G>A (p.Ala70Thr)	RPS19 (A70T +1 more)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +2 more	GUncertain significance
Select item 1394204	NM_001022.4(RPS19):c.245G>A (p.Arg82His)	RPS19 (R82H)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 1 +1 more	GUncertain significance
Select item 700706	NM_001022.4(RPS19):c.333A>G (p.Lys111=)	RPS19 (N116D)	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 1591451	NM_001022.4(RPS19):c.356+12del	RPS19	Deletion (intron variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 238214	NM_001022.4(RPS19):c.356+18G>C	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +2 more	GBenign/Likely benign
Select item 1626640	NM_001022.4(RPS19):c.411+19G>T	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 1 +1 more	GLikely benign