"GeneDx"[submitter] AND "RPL5"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151368	GRCh38/hg38 1p22.1(chr1:92490929-93507291)x1	CCDC18, CCDC18-AS1 +39 more	Copy number loss	See cases	GPathogenic
Select item 57785	GRCh38/hg38 1p22.1(chr1:92807868-92842656)x3	DIPK1A, LOC129930939 +3 more	Copy number gain	See cases	GUncertain significance
Select item 1270571	NR_146333.1(RPL5):n.15C>A	RPL5	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 298199	NM_000969.5(RPL5):c.-55C>G	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 6 +1 more	GBenign
Select item 298206	NM_000969.5(RPL5):c.-6C>T	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 6 +1 more	GLikely benign
Select item 1700812	NM_000969.5(RPL5):c.1A>G (p.Met1Val)	RPL5 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	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 2711753	NM_000969.5(RPL5):c.3+5G>C	RPL5	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2503388	NM_000969.5(RPL5):c.46_47del (p.Tyr16fs)	DIPK1A, RPL5 (Y16fs)	Deletion (frameshift variant +2 more)	not provided	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 2430596	NM_000969.5(RPL5):c.68G>A (p.Arg23Gln)	DIPK1A, RPL5 (R23Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 870662	NM_000969.5(RPL5):c.74-1G>A	DIPK1A, RPL5	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GPathogenic
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 3341036	NM_000969.5(RPL5):c.173_176del (p.Arg58fs)	DIPK1A, RPL5 (R58fs)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 423534	NM_000969.5(RPL5):c.190-7_190-2del	DIPK1A, RPL5	Deletion (splice acceptor variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1302199	NM_000969.5(RPL5):c.242A>G (p.His81Arg)	DIPK1A, RPL5 (H81R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 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 419160	NM_000969.5(RPL5):c.335_338del (p.Arg112fs)	RPL5, DIPK1A (R112fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 6180	NM_000969.5(RPL5):c.418G>A (p.Gly140Ser)	DIPK1A, RPL5 (G140S)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 463367	NM_000969.5(RPL5):c.426C>G (p.Phe142Leu)	DIPK1A, RPL5 (F142L)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3340635	NM_000969.5(RPL5):c.474dup (p.Val159fs)	DIPK1A, RPL5 (V159fs)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 2581907	NM_000969.5(RPL5):c.474A>C (p.Lys158Asn)	DIPK1A, RPL5 (K158N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2580676	NM_000969.5(RPL5):c.484G>T (p.Ala162Ser)	DIPK1A, RPL5 (A162S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 379826	NM_000969.5(RPL5):c.535C>T (p.Arg179Ter)	RPL5, DIPK1A (R179*)	Single nucleotide variant (nonsense +2 more)	not provided	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 1266374	NM_000969.5(RPL5):c.705+39del	DIPK1A, RPL5	Deletion (intron variant)	not provided	GBenign
Select item 1256629	NM_000969.5(RPL5):c.795-110G>T	DIPK1A, RPL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248516	NM_000969.5(RPL5):c.795-21A>G	DIPK1A, RPL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 513257	NM_000969.5(RPL5):c.795G>A (p.Arg265=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign

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Items: 31