"Illumina Laboratory Services, Illumina"[submitter] AND "RPL5"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 873660	NM_000969.5(RPL5):c.-74C>A	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 6	GUncertain significance
Select item 298196	NM_000969.5(RPL5):c.-70T>A	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 6	GUncertain significance
Select item 873661	NM_000969.5(RPL5):c.-64C>G	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 6	GUncertain significance
Select item 298197	NM_000969.5(RPL5):c.-62C>G	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 6	GLikely benign
Select item 298198	NM_000969.5(RPL5):c.-58G>T	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	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 298200	NM_000969.5(RPL5):c.-52C>G	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 6	GBenign
Select item 298201	NM_000969.5(RPL5):c.-48G>A	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 6	GBenign
Select item 298202	NM_000969.5(RPL5):c.-46C>G	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 6	GUncertain significance
Select item 298203	NM_000969.5(RPL5):c.-42A>C	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 6	GBenign
Select item 298204	NM_000969.5(RPL5):c.-38C>T	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 6	GLikely benign
Select item 298205	NM_000969.5(RPL5):c.-18C>A	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 6	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 298207	NM_000969.5(RPL5):c.-2G>A	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 6	GUncertain significance
Select item 281749	NM_000969.5(RPL5):c.3+3G>C	RPL5	Single nucleotide variant (intron variant)	RPL5-related condition +5 more	GBenign/Likely benign
Select item 874647	NM_000969.5(RPL5):c.3+11G>C	RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 6 +1 more	GConflicting classifications of pathogenicity
Select item 875587	NM_000969.5(RPL5):c.3+12C>T	RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +1 more	GBenign/Likely benign
Select item 298208	NM_000969.5(RPL5):c.3+13C>T	RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +1 more	GBenign/Likely benign
Select item 875588	NM_000969.5(RPL5):c.4-10T>C	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 6	GUncertain significance
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 298209	NM_000969.5(RPL5):c.202C>T (p.Arg68Cys)	DIPK1A, RPL5 (R68C)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia +1 more	GUncertain significance
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 238197	NM_000969.5(RPL5):c.258T>C (p.Tyr86=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia 6 +2 more	GBenign
Select item 875589	NM_000969.5(RPL5):c.324+14G>T	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +1 more	GBenign/Likely benign
Select item 298210	NM_000969.5(RPL5):c.325-11T>G	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +3 more	GConflicting classifications of pathogenicity
Select item 876582	NM_000969.5(RPL5):c.400A>C (p.Ser134Arg)	DIPK1A, RPL5 (S134R)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia 6	GUncertain significance
Select item 298211	NM_000969.5(RPL5):c.403A>G (p.Ile135Val)	DIPK1A, RPL5 (I135V)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia +1 more	GConflicting classifications of pathogenicity
Select item 238200	NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys)	DIPK1A, RPL5 (Y210C)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GBenign/Likely benign
Select item 876583	NM_000969.5(RPL5):c.642A>T (p.Glu214Asp)	DIPK1A, RPL5 (E214D)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia 6	GUncertain significance
Select item 298212	NM_000969.5(RPL5):c.781G>C (p.Val261Leu)	DIPK1A, RPL5 (V261L)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia +1 more	GBenign/Likely benign
Select item 298213	NM_000969.5(RPL5):c.794+121G>A	DIPK1A, RPL5 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Diamond-Blackfan anemia	GBenign
Select item 298214	NM_000969.5(RPL5):c.846A>G (p.Gln282=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia +1 more	GBenign
Select item 876584	NM_000969.5(RPL5):c.*47T>C	DIPK1A, RPL5	Single nucleotide variant (3 prime UTR variant +2 more)	Diamond-Blackfan anemia 6	GBenign

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Items: 33