RPS17[gene] and "single gene"[properties] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1736105	NM_001021.6(RPS17):c.390G>A (p.Thr130=)	RPS17	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia	GLikely benign
Select item 506484	NM_001021.6(RPS17):c.328-7G>A	RPS17	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 4 +1 more	GLikely benign
Select item 1686316	NM_001021.6(RPS17):c.327+80G>A	RPS17	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1223515	NM_001021.6(RPS17):c.312A>G (p.Glu104=)	RPS17	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 13000	NM_001021.6(RPS17):c.201_202del (p.Gly68fs)	RPS17 (G68fs)	Microsatellite (frameshift variant +1 more)	Diamond-Blackfan anemia 4	GPathogenic
Select item 419839	NM_001021.6(RPS17):c.159T>C (p.Tyr53=)	RPS17	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia +1 more	GConflicting classifications of pathogenicity
Select item 100625	NM_001021.6(RPS17):c.159T>G (p.Tyr53Ter)	RPS17 (Y53*)	Single nucleotide variant (nonsense +1 more)	Diamond-Blackfan anemia 4	GPathogenic
Select item 2428499	NM_001021.6(RPS17):c.156-1G>A	RPS17	Single nucleotide variant (splice acceptor variant)	Diamond-Blackfan anemia 4	GLikely pathogenic
Select item 449634	NM_001021.6(RPS17):c.152_154del (p.Ala51del)	RPS17 (A51del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3347383	NM_001021.6(RPS17):c.130A>C (p.Lys44Gln)	RPS17 (K44Q)	Single nucleotide variant (missense variant +1 more)	RPS17-related condition	GUncertain significance
Select item 1764995	NM_001021.6(RPS17):c.126C>T (p.Pro42=)	RPS17	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia	GLikely benign
Select item 1751600	NM_001021.6(RPS17):c.60del (p.Tyr21fs)	RPS17 (Y21fs)	Deletion (frameshift variant +1 more)	Diamond-Blackfan anemia	GPathogenic
Select item 1741787	NM_001021.6(RPS17):c.45C>T (p.Val15=)	RPS17	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia	GLikely benign
Select item 3232363	NM_001021.6(RPS17):c.39C>T (p.Ala13=)	RPS17	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia	GLikely benign
Select item 2506833	NM_001021.6(RPS17):c.14G>T (p.Arg5Leu)	RPS17 (R5L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1235999	NM_001021.6(RPS17):c.3+132C>G	RPS17	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 12999	NM_001021.6(RPS17):c.2T>G (p.Met1Arg)	RPS17 (M1R)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 1784170	NM_001021.6(RPS17):c.1A>G (p.Met1Val)	RPS17 (M1V)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 1686317	NC_000015.10:g.82540460G>A	RPS17	Single nucleotide variant	not specified	GBenign
Select item 1807747	GRCh37/hg19 15q25.2(chr15:82631657-83198302)x1	RPS17	Copy number loss	not provided	GPathogenic
Select item 88976	NG_009890.2:g.(5565_6559)_(8796_9460)del	RPS17	Deletion	Diamond-Blackfan anemia 4	GPathogenic

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Items: 21