"GeneDx"[submitter] AND "RPS24"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57888	GRCh38/hg38 10q22.3(chr10:77791298-78077947)x3	DLG5, DLG5-AS1 +17 more	Copy number gain	See cases	GUncertain significance
Select item 301089	NM_033022.3(RPS24):c.-50G>A	LOC130004144, RPS24	Single nucleotide variant	Diamond-Blackfan anemia 3 +1 more	GLikely benign
Select item 301091	NM_033022.4(RPS24):c.-8T>G	LOC130004144, POLR3A +1 more	Single nucleotide variant (5 prime UTR variant)	Pol III-related leukodystrophy +4 more	GBenign/Likely benign
Select item 265439	NM_033022.4(RPS24):c.1A>G (p.Met1Val)	LOC130004144, RPS24 (M1V)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia +1 more	GPathogenic
Select item 1260481	NM_033022.4(RPS24):c.3+215C>T	LOC130004144, RPS24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275226	NM_033022.4(RPS24):c.3+220C>T	LOC130004144, RPS24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220083	NM_033022.4(RPS24):c.4-289G>A	RPS24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 451435	NM_033022.4(RPS24):c.20T>G (p.Ile7Ser)	RPS24 (I7S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1328691	NM_033022.4(RPS24):c.82C>T (p.Leu28Phe)	RPS24 (L28F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1024399	NM_033022.4(RPS24):c.82C>G (p.Leu28Val)	RPS24 (L28V)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 1308753	NM_033022.4(RPS24):c.174T>G (p.Phe58Leu)	RPS24 (F58L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 301093	NM_033022.4(RPS24):c.177A>G (p.Gly59=)	RPS24	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1801191	NM_033022.4(RPS24):c.178T>A (p.Phe60Ile)	RPS24 (F60I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1271231	NM_033022.4(RPS24):c.279+102T>G	RPS24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220239	NM_033022.4(RPS24):c.280-276C>T	RPS24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290750	NM_033022.4(RPS24):c.280-271A>T	RPS24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232406	NM_033022.4(RPS24):c.280-226G>C	RPS24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263315	NM_033022.4(RPS24):c.280-149C>T	RPS24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219515	NM_033022.4(RPS24):c.280-52G>A	RPS24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1343883	NM_033022.4(RPS24):c.390+436T>G	RPS24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202997	NM_033022.4(RPS24):c.390+465C>T	RPS24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226986	NM_033022.4(RPS24):c.390+622G>T	RPS24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262826	NM_033022.4(RPS24):c.390+628C>T	RPS24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277829	NM_033022.4(RPS24):c.390+629CT[2]	RPS24	Microsatellite (intron variant)	not provided	GBenign
Select item 1206530	NM_033022.4(RPS24):c.390+967G>A	RPS24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206642	NM_033022.4(RPS24):c.391-243C>T	RPS24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 301097	NM_033022.4(RPS24):c.391-3C>A	RPS24	Single nucleotide variant (intron variant)	RPS24-related condition +3 more	GBenign
Select item 436556	NM_033022.4(RPS24):c.*11G>A	RPS24	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GLikely benign
Select item 1201878	NM_033022.4(RPS24):c.*19+60T>C	RPS24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208679	NM_001142285.2(RPS24):c.391-271G>A	RPS24	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286644	NM_001142285.2(RPS24):c.421T>C (p.Leu141=)	RPS24	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1800511	NM_001142285.2(RPS24):c.634G>A (p.Glu212Lys)	RPS24 (E212K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1219043	NM_001142285.2(RPS24):c.701A>G (p.His234Arg)	RPS24 (H234R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1227876	NM_001142285.2(RPS24):c.849C>T (p.Cys283=)	RPS24	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1187759	NM_001142285.2(RPS24):c.*100C>T	RPS24	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1215638	NM_001142285.2(RPS24):c.*205C>T	RPS24	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign

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Items: 36