"GeneDx"[submitter] AND "RPS10-NUDT3"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1216886	NC_000006.12:g.34417358C>T	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2043241	NM_001014.5(RPS10):c.493C>G (p.Gln165Glu)	RPS10, RPS10-NUDT3 (Q165E)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 1213487	NM_001014.5(RPS10):c.457-174T>C	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178824	NM_001014.5(RPS10):c.457-193T>A	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228151	NM_001014.5(RPS10):c.456+226dup	RPS10, RPS10-NUDT3	Duplication (intron variant)	not provided	GBenign
Select item 356419	NM_001014.5(RPS10):c.408C>T (p.Ala136=)	RPS10-NUDT3, RPS10	Single nucleotide variant (synonymous variant)	RPS10-NUDT3-related disorder +5 more	GBenign/Likely benign
Select item 516589	NM_001014.5(RPS10):c.401-18C>T	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +1 more	GBenign
Select item 1297423	NM_001014.5(RPS10):c.401-202T>A	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221021	NM_001014.5(RPS10):c.400+294C>T	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223020	NM_001014.5(RPS10):c.400+292del	RPS10, RPS10-NUDT3	Deletion (intron variant)	not provided	GBenign
Select item 1189994	NM_001014.5(RPS10):c.400+290G>T	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215130	NM_001014.5(RPS10):c.400+288G>T	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215886	NM_001014.5(RPS10):c.400+283A>G	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242605	NM_001014.5(RPS10):c.400+147A>G	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186400	NM_001014.5(RPS10):c.323-106del	RPS10, RPS10-NUDT3	Deletion (intron variant)	not provided	GLikely benign
Select item 1201612	NM_001014.5(RPS10):c.323-213dup	RPS10, RPS10-NUDT3	Duplication (intron variant)	not provided	GLikely benign
Select item 1292678	NM_001014.5(RPS10):c.323-213del	RPS10, RPS10-NUDT3	Deletion (intron variant)	not provided	GBenign
Select item 1215389	NM_001014.5(RPS10):c.323-214_323-213del	RPS10, RPS10-NUDT3	Deletion (intron variant)	not provided	GLikely benign
Select item 1186153	NM_001014.5(RPS10):c.323-215_323-213del	RPS10, RPS10-NUDT3	Deletion (intron variant)	not provided	GLikely benign
Select item 1202945	NM_001014.5(RPS10):c.322+309G>A	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212625	NM_001014.5(RPS10):c.322+286G>A	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195389	NM_001014.5(RPS10):c.151-36T>G	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516588	NM_001014.5(RPS10):c.1-18A>G	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 1179743	NM_001014.5(RPS10):c.1-214G>A	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233207	NM_001014.5(RPS10):c.1-278C>T	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 356431	NM_001014.5(RPS10):c.-37C>T	RPS10, RPS10-NUDT3	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 9 +1 more	GBenign

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Items: 26