ClinVar for MedGen (Select 387892) - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689885	NM_033022.4(RPS24):c.390+4T>C	RPS24	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 3 +1 more	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 2504586	NM_033022.4(RPS24):c.273del (p.Ala92fs)	RPS24 (A92fs)	Deletion (frameshift variant)	Diamond-Blackfan anemia 3	GLikely pathogenic
Select item 2500081	NM_001142285.2(RPS24):c.484C>T (p.Arg162Trp)	RPS24 (R162W)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 3	GLikely benign
Select item 2441880	NM_001142285.2(RPS24):c.522del (p.Pro173_Trp174insTer)	RPS24	Deletion (nonsense)	Diamond-Blackfan anemia 3	GUncertain significance
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 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 1327973	NM_033022.4(RPS24):c.3+26C>T	LOC130004144, RPS24	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 3	GBenign
Select item 1327106	NM_001142285.2(RPS24):c.799C>G (p.Pro267Ala)	RPS24 (P267A)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 3	GUncertain significance
Select item 1164774	NM_033022.4(RPS24):c.306C>T (p.Thr102=)	RPS24	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 3 +1 more	GBenign/Likely 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 1048968	NM_001142285.2(RPS24):c.526G>A (p.Val176Met)	RPS24 (V176M)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 3	GUncertain significance
Select item 998290	NM_001142285.2(RPS24):c.811A>C (p.Ile271Leu)	RPS24 (I271L)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 3	GUncertain significance
Select item 998289	NM_001142285.2(RPS24):c.659C>T (p.Ala220Val)	RPS24 (A220V)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 3	GUncertain significance
Select item 997675	NM_001142285.2(RPS24):c.409G>A (p.Gly137Arg)	RPS24 (G137R)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 3	GUncertain significance
Select item 997562	NM_001142285.2(RPS24):c.439G>A (p.Glu147Lys)	RPS24 (E147K)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 3	GUncertain significance
Select item 973668	NM_001142285.2(RPS24):c.828C>A (p.Ser276Arg)	RPS24 (S276R)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 3	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 878476	NM_033022.4(RPS24):c.3+15G>A	LOC130004144, RPS24	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 3	GLikely 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 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 877453	NM_033022.4(RPS24):c.-32C>T	LOC130004144, RPS24	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 3	GBenign
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 877451	NM_033022.3(RPS24):c.-47T>G	LOC130004144, RPS24	Single nucleotide variant	Diamond-Blackfan anemia 3	GUncertain significance
Select item 696301	NM_033022.4(RPS24):c.3+7C>T	LOC130004144, RPS24	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +1 more	GConflicting classifications of pathogenicity
Select item 695428	NM_033022.4(RPS24):c.378T>G (p.Gly126=)	RPS24	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GBenign/Likely 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 549764	NM_033022.4(RPS24):c.148A>C (p.Thr50Pro)	RPS24 (T50P)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 3	GPathogenic
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 416128	NM_033022.4(RPS24):c.363A>G (p.Ala121=)	RPS24	Single nucleotide variant (synonymous variant)	RPS24-related condition +2 more	GBenign
Select item 301099	NM_033022.4(RPS24):c.*99T>C	RPS24	Single nucleotide variant (3 prime UTR variant +1 more)	Diamond-Blackfan anemia 3	GBenign
Select item 301098	NM_033022.4(RPS24):c.*21C>T	RPS24 (P131L)	Single nucleotide variant (missense variant +2 more)	RPS24-related condition +2 more	GBenign/Likely 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 301096	NM_033022.4(RPS24):c.333G>A (p.Lys111=)	RPS24	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 3 +1 more	GLikely benign
Select item 301094	NM_033022.4(RPS24):c.235C>T (p.Leu79=)	RPS24	Single nucleotide variant (synonymous variant)	RPS24-related condition +3 more	GBenign/Likely benign
Select item 301093	NM_033022.4(RPS24):c.177A>G (p.Gly59=)	RPS24	Single nucleotide variant (synonymous variant)	RPS24-related condition +3 more	GBenign/Likely 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 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 301090	NM_033022.4(RPS24):c.-36T>G	LOC130004144, RPS24	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 3	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 301088	NM_033022.3(RPS24):c.-109A>G	LOC130004144, POLR3A +1 more	Single nucleotide variant	Diamond-Blackfan anemia 3 +2 more	GBenign
Select item 301087	NM_033022.3(RPS24):c.-142A>G	LOC130004144, RPS24	Single nucleotide variant	Diamond-Blackfan anemia 3	GUncertain significance
Select item 241728	NM_033022.4(RPS24):c.371A>G (p.Asn124Ser)	RPS24 (N124S)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +3 more	GBenign/Likely benign
Select item 88977	NM_007055.3(POLR3A):c.-6128_-995del	LOC130004144, RPS24	Deletion	Diamond-Blackfan anemia 3	GPathogenic
Select item 7247	NM_033022.4(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer)	RPS24	Indel (nonsense)	Diamond-Blackfan anemia 3	GPathogenic
Select item 7246	NM_033022.4(RPS24):c.46C>T (p.Arg16Ter)	RPS24 (R16*)	Single nucleotide variant (nonsense)	Diamond-Blackfan anemia	GPathogenic
Select item 7245	NM_033022.4(RPS24):c.316C>T (p.Gln106Ter)	RPS24 (Q106*)	Single nucleotide variant (nonsense)	Diamond-Blackfan anemia 3	GPathogenic

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Links from MedGen

Items: 47