Related gene-specific medical variations for Gene (Select 6229) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2821179	NM_033022.4(RPS24):c.3+20T>A	LOC130004144, RPS24	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
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 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 2196372	NM_033022.4(RPS24):c.3+7C>G	LOC130004144, RPS24	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	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 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 1595855	NM_033022.4(RPS24):c.3+17C>T	LOC130004144, RPS24	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1337223	NM_033022.4(RPS24):c.-4C>T	LOC130004144, RPS24	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1327973	NM_033022.4(RPS24):c.3+26C>T	LOC130004144, RPS24	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 3 +1 more	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 1275226	NM_033022.4(RPS24):c.3+220C>T	LOC130004144, RPS24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260481	NM_033022.4(RPS24):c.3+215C>T	LOC130004144, RPS24	Single nucleotide variant (intron variant)	not provided	GBenign
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 704120	NM_033022.4(RPS24):c.3+9C>T	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 633658	NM_001142285.2(RPS24):c.820G>T (p.Glu274Ter)	RPS24 (E274*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 633657	NM_001142285.2(RPS24):c.391-2A>T	RPS24	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 591783	NM_001142285.2(RPS24):c.508_516del (p.Val170_Gly172del)	RPS24	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 301091	NM_033022.4(RPS24):c.-8T>G	LOC130004144, POLR3A +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +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 265439	NM_033022.4(RPS24):c.1A>G (p.Met1Val)	LOC130004144, RPS24 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic

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Links from Gene

Items: 28