RPS24[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
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 368925	NM_007055.4(POLR3A):c.-35C>G	LOC130004143, POLR3A +1 more	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia +2 more	GConflicting classifications of pathogenicity
Select item 301086	NM_007055.4(POLR3A):c.-103T>A	LOC130004143, POLR3A +1 more	Single nucleotide variant (5 prime UTR variant)	Pol III-related leukodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 88977	NM_007055.3(POLR3A):c.-6128_-995del	LOC130004144, RPS24	Deletion	Diamond-Blackfan anemia 3	GPathogenic
Select item 301087	NM_033022.3(RPS24):c.-142A>G	LOC130004144, RPS24	Single nucleotide variant	Diamond-Blackfan anemia 3	GUncertain significance
Select item 301088	NM_033022.3(RPS24):c.-109A>G	LOC130004144, POLR3A +1 more	Single nucleotide variant	Diamond-Blackfan anemia 3 +2 more	GBenign
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 877451	NM_033022.3(RPS24):c.-47T>G	LOC130004144, RPS24	Single nucleotide variant	Diamond-Blackfan anemia 3	GUncertain significance
Select item 877452	NM_033022.4(RPS24):c.-37C>T	LOC130004144, RPS24	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 3	GLikely benign
Select item 301090	NM_033022.4(RPS24):c.-36T>G	LOC130004144, RPS24	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 3	GBenign
Select item 877453	NM_033022.4(RPS24):c.-32C>T	LOC130004144, RPS24	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 3	GBenign
Select item 877454	NM_033022.4(RPS24):c.-23C>T	LOC130004144, RPS24	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 3	GLikely benign
Select item 301091	NM_033022.4(RPS24):c.-8T>G	LOC130004144, POLR3A +1 more	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia +4 more	GBenign/Likely benign
Select item 877455	NM_033022.4(RPS24):c.-7C>A	LOC130004144, RPS24	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 3	GBenign
Select item 2640628	NM_033022.4(RPS24):c.-5C>T	LOC130004144, RPS24	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1337223	NM_033022.4(RPS24):c.-4C>T	LOC130004144, RPS24	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 1798673	NM_033022.4(RPS24):c.2T>C (p.Met1Thr)	LOC130004144, RPS24 (M1T)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia	GPathogenic
Select item 1698829	NM_033022.4(RPS24):c.3G>A (p.Met1Ile)	LOC130004144, RPS24 (M1I)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 3	GUncertain significance
Select item 2196372	NM_033022.4(RPS24):c.3+7C>G	LOC130004144, RPS24	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 696301	NM_033022.4(RPS24):c.3+7C>T	LOC130004144, RPS24	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 3 +1 more	GConflicting classifications of pathogenicity
Select item 704120	NM_033022.4(RPS24):c.3+9C>T	LOC130004144, RPS24	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2895592	NM_033022.4(RPS24):c.3+14G>C	LOC130004144, RPS24	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 878476	NM_033022.4(RPS24):c.3+15G>A	LOC130004144, RPS24	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 3	GLikely benign
Select item 1972027	NM_033022.4(RPS24):c.3+16C>T	LOC130004144, RPS24	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1595855	NM_033022.4(RPS24):c.3+17C>T	LOC130004144, RPS24	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2821179	NM_033022.4(RPS24):c.3+20T>A	LOC130004144, RPS24	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1327973	NM_033022.4(RPS24):c.3+26C>T	LOC130004144, RPS24	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 3	GBenign
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 1556152	NM_033022.4(RPS24):c.4-20C>G	RPS24	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2711779	NM_033022.4(RPS24):c.4-16G>C	RPS24	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2791583	NM_033022.4(RPS24):c.4-11T>C	RPS24	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 878477	NM_033022.4(RPS24):c.4-7T>C	RPS24	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 3	GUncertain significance
Select item 583973	NC_000010.10:g.(?_79795104)_(79799970_?)dup	RPS24	Duplication	Diamond-Blackfan anemia	GUncertain significance
Select item 2418834	NM_033022.4(RPS24):c.4-3C>T	RPS24	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 7247	NM_033022.4(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer)	RPS24	Indel (nonsense)	Diamond-Blackfan anemia 3	GPathogenic
Select item 436554	NM_033022.4(RPS24):c.6C>T (p.Asn2=)	RPS24	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1393430	NM_033022.4(RPS24):c.7G>A (p.Asp3Asn)	RPS24 (D3N)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 700939	NM_033022.4(RPS24):c.12C>T (p.Thr4=)	RPS24	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 662877	NM_033022.4(RPS24):c.13_14del (p.Val5fs)	RPS24 (V5fs)	Deletion (frameshift variant)	Diamond-Blackfan anemia	GPathogenic
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 2897995	NM_033022.4(RPS24):c.21C>A (p.Ile7=)	RPS24	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1121639	NM_033022.4(RPS24):c.21C>T (p.Ile7=)	RPS24	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1414909	NM_033022.4(RPS24):c.23G>A (p.Arg8His)	RPS24 (R8H)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 7246	NM_033022.4(RPS24):c.46C>T (p.Arg16Ter)	RPS24 (R16*)	Single nucleotide variant (nonsense)	Diamond-Blackfan anemia	GPathogenic
Select item 2015699	NM_033022.4(RPS24):c.47G>T (p.Arg16Leu)	RPS24 (R16L)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1484305	NM_033022.4(RPS24):c.47G>C (p.Arg16Pro)	RPS24 (R16P)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1338089	NM_033022.4(RPS24):c.49C>T (p.Leu17=)	RPS24	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1545201	NM_033022.4(RPS24):c.60G>A (p.Arg20=)	RPS24	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1754419	NM_033022.4(RPS24):c.66_67del (p.Gln22fs)	RPS24 (Q22fs)	Deletion (frameshift variant)	Diamond-Blackfan anemia	GPathogenic
Select item 1180779	NM_033022.4(RPS24):c.69+1G>T	RPS24	Single nucleotide variant (splice donor variant)	Abnormality of blood and blood-forming tissues	GLikely pathogenic
Select item 1100987	NM_033022.4(RPS24):c.69+10G>A	RPS24	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2721025	NM_033022.4(RPS24):c.69+11G>A	RPS24	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2199132	NM_033022.4(RPS24):c.69+17C>T	RPS24	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2856155	NM_033022.4(RPS24):c.70-15G>T	RPS24	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2723310	NM_033022.4(RPS24):c.70-14A>G	RPS24	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 757746	NM_033022.4(RPS24):c.70-10C>T	RPS24	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1931547	NM_033022.4(RPS24):c.81C>A (p.Val27=)	RPS24	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
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 1764016	NM_033022.4(RPS24):c.86_103del (p.His29_Val35delinsLeu)	RPS24	Deletion (inframe_indel)	Diamond-Blackfan anemia	GUncertain significance
Select item 1123867	NM_033022.4(RPS24):c.90C>T (p.Pro30=)	RPS24	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 665309	NM_033022.4(RPS24):c.91G>A (p.Gly31Arg)	RPS24 (G31R)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 2845431	NM_033022.4(RPS24):c.97G>T (p.Ala33Ser)	RPS24 (A33S)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1545400	NM_033022.4(RPS24):c.99G>A (p.Ala33=)	RPS24	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1013633	NM_033022.4(RPS24):c.122G>A (p.Arg41Gln)	RPS24 (R41Q)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 549764	NM_033022.4(RPS24):c.148A>C (p.Thr50Pro)	RPS24 (T50P)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 3	GPathogenic
Select item 2435480	NM_033022.4(RPS24):c.149C>G (p.Thr50Ser)	RPS24 (T50S)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 3	GUncertain significance
Select item 2585257	NM_033022.4(RPS24):c.155C>T (p.Pro52Leu)	RPS24 (P52L)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 3	GUncertain significance
Select item 2011228	NM_033022.4(RPS24):c.155C>A (p.Pro52Gln)	RPS24 (P52Q)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 3006826	NM_033022.4(RPS24):c.156G>A (p.Pro52=)	RPS24	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1646291	NM_033022.4(RPS24):c.156G>T (p.Pro52=)	RPS24	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1162257	NM_033022.4(RPS24):c.157del (p.Asp53fs)	RPS24 (D53fs)	Deletion (frameshift variant)	Diamond-Blackfan anemia 3	GLikely pathogenic
Select item 2759504	NM_033022.4(RPS24):c.158A>T (p.Asp53Val)	RPS24 (D53V)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2742040	NM_033022.4(RPS24):c.160G>A (p.Val54Ile)	RPS24 (V54I)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 703702	NM_033022.4(RPS24):c.165C>T (p.Ile55=)	RPS24	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 301092	NM_033022.4(RPS24):c.168T>C (p.Phe56=)	RPS24	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 2902136	NM_033022.4(RPS24):c.171A>T (p.Val57=)	RPS24	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2749493	NM_033022.4(RPS24):c.172T>C (p.Phe58Leu)	RPS24 (F58L)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	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)	RPS24-related disorder +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 436555	NM_033022.4(RPS24):c.189T>C (p.His63=)	RPS24	Single nucleotide variant (synonymous variant)	RPS24-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1618707	NM_033022.4(RPS24):c.234C>T (p.Ser78=)	RPS24	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 301094	NM_033022.4(RPS24):c.235C>T (p.Leu79=)	RPS24	Single nucleotide variant (synonymous variant)	RPS24-related disorder +3 more	GBenign/Likely benign
Select item 2727382	NM_033022.4(RPS24):c.240T>G (p.Asp80Glu)	RPS24 (D80E)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 703868	NM_033022.4(RPS24):c.246A>C (p.Ala82=)	RPS24	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2889638	NM_033022.4(RPS24):c.255T>C (p.Asn85=)	RPS24	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1176546	NM_033022.4(RPS24):c.262A>G (p.Lys88Glu)	RPS24 (K88E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1598067	NM_033022.4(RPS24):c.264A>G (p.Lys88=)	RPS24	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2880230	NM_033022.4(RPS24):c.271C>G (p.Leu91Val)	RPS24 (L91V)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2504586	NM_033022.4(RPS24):c.273del (p.Ala92fs)	RPS24 (A92fs)	Deletion (frameshift variant)	Diamond-Blackfan anemia 3	GLikely pathogenic
Select item 1983618	NM_033022.4(RPS24):c.275C>A (p.Ala92Glu)	RPS24 (A92E)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1112117	NM_033022.4(RPS24):c.276A>T (p.Ala92=)	RPS24	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2191985	NM_033022.4(RPS24):c.277A>C (p.Arg93=)	RPS24	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2045155	NM_033022.4(RPS24):c.278G>A (p.Arg93Lys)	RPS24 (R93K)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance

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