"GeneDx"[submitter] AND "RPS17"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 449634	NM_001021.6(RPS17):c.152_154del (p.Ala51del)	RPS17 (A51del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
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 1281417	NC_000015.10:g.82540482A>T	LOC130057768, RPS17	Single nucleotide variant	not provided	GBenign
Select item 1699873	NC_000015.10:g.82540485C>T	LOC130057768, RPS17	Single nucleotide variant	not provided	GLikely benign
Select item 253956	GRCh37/hg19 15q25.2(chr15:82133231-83455333)x3	FSD2, EFL1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic