"Ambry Genetics"[submitter] AND "RPL5"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1736900	NM_000969.5(RPL5):c.3G>A (p.Met1Ile)	RPL5 (M1I)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 281749	NM_000969.5(RPL5):c.3+3G>C	RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 6 +4 more	GBenign/Likely benign
Select item 1789249	NM_000969.5(RPL5):c.22A>T (p.Lys8Ter)	DIPK1A, RPL5 (K8*)	Single nucleotide variant (nonsense +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 1794904	NM_000969.5(RPL5):c.26del (p.Asn9fs)	DIPK1A, RPL5 (N9fs)	Deletion (frameshift variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 985952	NM_000969.5(RPL5):c.41del (p.Lys14fs)	DIPK1A, RPL5 (K14fs)	Deletion (frameshift variant +2 more)	Inborn genetic diseases	GPathogenic
Select item 1743930	NM_000969.5(RPL5):c.48C>A (p.Tyr16Ter)	DIPK1A, RPL5 (Y16*)	Single nucleotide variant (nonsense +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 1746004	NM_000969.5(RPL5):c.51A>G (p.Gln17=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia	GLikely benign
Select item 1751601	NM_000969.5(RPL5):c.60del (p.Phe20fs)	DIPK1A, RPL5 (F20fs)	Deletion (frameshift variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 6179	NM_000969.5(RPL5):c.67C>T (p.Arg23Ter)	DIPK1A, RPL5 (R23*)	Single nucleotide variant (nonsense +2 more)	Diamond-Blackfan anemia +1 more	GPathogenic
Select item 520995	NM_000969.5(RPL5):c.73+1G>A	DIPK1A, RPL5	Single nucleotide variant (splice donor variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 1763241	NM_000969.5(RPL5):c.83del (p.Thr28fs)	DIPK1A, RPL5 (T28fs)	Deletion (frameshift variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 1766492	NM_000969.5(RPL5):c.92dup (p.Tyr31Ter)	DIPK1A, RPL5 (Y31*)	Duplication (nonsense +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 701602	NM_000969.5(RPL5):c.156A>C (p.Ile52=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia	GLikely benign
Select item 238196	NM_000969.5(RPL5):c.165G>A (p.Val55=)	RPL5, DIPK1A	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia 6 +3 more	GBenign/Likely benign
Select item 579583	NM_000969.5(RPL5):c.169_172del (p.Asn57fs)	DIPK1A, RPL5 (N57fs)	Deletion (frameshift variant +2 more)	Diamond-Blackfan anemia 1 +3 more	GPathogenic
Select item 662012	NM_000969.5(RPL5):c.175_176del (p.Asp59fs)	DIPK1A, RPL5 (D59fs)	Microsatellite (frameshift variant +2 more)	Diamond-Blackfan anemia 6 +1 more	GPathogenic
Select item 1779974	NM_000969.5(RPL5):c.178_179del (p.Ile60fs)	DIPK1A, RPL5 (I60fs)	Microsatellite (frameshift variant +2 more)	Diamond-Blackfan anemia 6 +1 more	GPathogenic/Likely pathogenic
Select item 1552681	NM_000969.5(RPL5):c.204T>A (p.Arg68=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia	GLikely benign
Select item 1788080	NM_000969.5(RPL5):c.222dup (p.Val75fs)	DIPK1A, RPL5 (V75fs)	Duplication (frameshift variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 416949	NM_000969.5(RPL5):c.228C>T (p.Cys76=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia +1 more	GConflicting classifications of pathogenicity
Select item 100638	NM_000969.5(RPL5):c.244G>T (p.Glu82Ter)	DIPK1A, RPL5 (E82*)	Single nucleotide variant (nonsense +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 238197	NM_000969.5(RPL5):c.258T>C (p.Tyr86=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia 6 +3 more	GBenign
Select item 1652763	NM_000969.5(RPL5):c.310C>T (p.Leu104=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia	GLikely benign
Select item 298210	NM_000969.5(RPL5):c.325-11T>G	RPL5, DIPK1A	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1735599	NM_000969.5(RPL5):c.385G>T (p.Glu129Ter)	DIPK1A, RPL5 (E129*)	Single nucleotide variant (nonsense +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 1738073	NM_000969.5(RPL5):c.412C>T (p.Gln138Ter)	DIPK1A, RPL5 (Q138*)	Single nucleotide variant (nonsense +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 1170876	NM_000969.5(RPL5):c.423C>T (p.Ala141=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 1752117	NM_000969.5(RPL5):c.619_620insTGTACATCGGAAGCACATCATGGGCCAGAATGTTGCAGATT (p.Tyr207fs)	DIPK1A, RPL5 (Y207fs)	Insertion (frameshift variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 238200	NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys)	RPL5, DIPK1A (Y210C)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia 6 +4 more	GBenign/Likely benign
Select item 1758874	NM_000969.5(RPL5):c.742C>T (p.Arg248Ter)	DIPK1A, RPL5 (R248*)	Single nucleotide variant (nonsense +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 3232325	NM_000969.5(RPL5):c.807C>A (p.Pro269=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia	GLikely benign
Select item 1336090	NM_000969.5(RPL5):c.*1A>G	DIPK1A, RPL5	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity

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Items: 32