6204[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 1216886	NM_001202470.3(RPS10-NUDT3):c.456+1011G>A	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 356417	NM_001014.5(RPS10):c.*43A>G	RPS10, RPS10-NUDT3	Single nucleotide variant (3 prime UTR variant +1 more)	Diamond-Blackfan anemia 9	GBenign
Select item 356418	NM_001014.5(RPS10):c.*25G>T	RPS10, RPS10-NUDT3	Single nucleotide variant (3 prime UTR variant +1 more)	Diamond-Blackfan anemia 9	GUncertain significance
Select item 2043241	NM_001014.5(RPS10):c.493C>G (p.Gln165Glu)	RPS10-NUDT3, RPS10 (Q165E)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2699015	NM_001014.5(RPS10):c.481G>T (p.Gly161Cys)	RPS10, RPS10-NUDT3 (G161C)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 1383769	NM_001014.5(RPS10):c.479G>A (p.Arg160His)	RPS10, RPS10-NUDT3 (R160H)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2188557	NM_001014.5(RPS10):c.473G>A (p.Arg158His)	RPS10, RPS10-NUDT3 (R158H)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 3019220	NM_001014.5(RPS10):c.471T>A (p.Gly157=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia	GLikely benign
Select item 2178780	NM_001014.5(RPS10):c.463G>A (p.Gly155Arg)	RPS10, RPS10-NUDT3 (G155R)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2816014	NM_001014.5(RPS10):c.462C>T (p.Gly154=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia	GLikely benign
Select item 2820912	NM_001014.5(RPS10):c.457A>G (p.Arg153Gly)	RPS10, RPS10-NUDT3 (R153G)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 1097562	NM_001014.5(RPS10):c.457-6T>C	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
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 1021090	NM_001014.5(RPS10):c.456+3_456+6del	RPS10-NUDT3, RPS10	Deletion (splice donor variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1336843	NM_001014.5(RPS10):c.444C>T (p.Thr148=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 9 +2 more	GBenign/Likely benign
Select item 904984	NM_001014.5(RPS10):c.437C>T (p.Ser146Leu)	RPS10, RPS10-NUDT3 (S146L)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 9	GBenign
Select item 906570	NM_001014.5(RPS10):c.432T>G (p.Ala144=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 9 +1 more	GBenign/Likely benign
Select item 1488698	NM_001014.5(RPS10):c.425C>T (p.Ala142Val)	RPS10, RPS10-NUDT3 (A142V)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2912885	NM_001014.5(RPS10):c.420C>T (p.Ala140=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2716893	NM_001014.5(RPS10):c.409G>A (p.Asp137Asn)	RPS10, RPS10-NUDT3 (D137N)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1064351	NM_001014.5(RPS10):c.408C>A (p.Ala136=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 356419	NM_001014.5(RPS10):c.408C>T (p.Ala136=)	RPS10-NUDT3, RPS10	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 2302403	NM_001014.5(RPS10):c.403G>T (p.Gly135Cys)	RPS10, RPS10-NUDT3 (G135C)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 834960	NM_001014.5(RPS10):c.401-2A>G	RPS10, RPS10-NUDT3	Single nucleotide variant (splice acceptor variant)	Diamond-Blackfan anemia	GLikely pathogenic
Select item 2034752	NM_001014.5(RPS10):c.401-10dup	RPS10, RPS10-NUDT3	Duplication (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 702019	NM_001014.5(RPS10):c.401-9A>G	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	RPS10-related condition +1 more	GBenign/Likely benign
Select item 2082346	NM_001014.5(RPS10):c.401-11dup	RPS10, RPS10-NUDT3	Duplication (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2861296	NM_001014.5(RPS10):c.401-16A>T	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1602620	NM_001014.5(RPS10):c.401-17G>A	RPS10-NUDT3, RPS10	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 516589	NM_001014.5(RPS10):c.401-18C>T	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	not specified +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 2857720	NM_001014.5(RPS10):c.400+19dup	RPS10, RPS10-NUDT3	Duplication (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2200245	NM_001014.5(RPS10):c.400+20A>G	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1636480	NM_001014.5(RPS10):c.400+17C>G	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2064944	NM_001014.5(RPS10):c.400+13A>G	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2633296	NM_001014.5(RPS10):c.400+1G>A	RPS10, RPS10-NUDT3	Single nucleotide variant (splice donor variant)	RPS10-related condition	GLikely pathogenic
Select item 965050	NM_001014.5(RPS10):c.400C>T (p.Pro134Ser)	RPS10, RPS10-NUDT3 (P134S)	Single nucleotide variant (missense variant)	RPS10-related condition +1 more	GUncertain significance
Select item 1441067	NM_001014.5(RPS10):c.385C>T (p.Arg129Trp)	RPS10, RPS10-NUDT3 (R129W)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1345671	NM_001014.5(RPS10):c.371G>A (p.Arg124Lys)	RPS10, RPS10-NUDT3 (R124K)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 356420	NM_001014.5(RPS10):c.364G>A (p.Ala122Thr)	RPS10, RPS10-NUDT3 (A122T)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 9	GUncertain significance
Select item 1586036	NM_001014.5(RPS10):c.360G>A (p.Gly120=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1958826	NM_001014.5(RPS10):c.357A>G (p.Arg119=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1732548	NM_001014.5(RPS10):c.354A>C (p.Thr118=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1659137	NM_001014.5(RPS10):c.351C>T (p.Leu117=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 2882894	NM_001014.5(RPS10):c.345G>A (p.Ala115=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2912518	NM_001014.5(RPS10):c.344C>T (p.Ala115Val)	RPS10, RPS10-NUDT3 (A115V)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 6187	NM_001014.5(RPS10):c.337C>T (p.Arg113Ter)	RPS10, RPS10-NUDT3 (R113*)	Single nucleotide variant (nonsense)	Diamond-Blackfan anemia	GPathogenic
Select item 1362185	NM_001014.5(RPS10):c.323-4A>G	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1920180	NM_001014.5(RPS10):c.323-18G>A	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1649490	NM_001014.5(RPS10):c.323-19T>C	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1186400	NM_001014.5(RPS10):c.323-106del	RPS10-NUDT3, RPS10	Deletion (intron variant)	not provided	GLikely benign
Select item 1201612	NM_001014.5(RPS10):c.323-226dup	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-NUDT3, RPS10	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 2991534	NM_001014.5(RPS10):c.322+17A>G	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1674754	NM_001014.5(RPS10):c.322+16A>G	RPS10-NUDT3, RPS10	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2101905	NM_001014.5(RPS10):c.322+15C>T	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1594950	NM_001014.5(RPS10):c.322+15C>G	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2896682	NM_001014.5(RPS10):c.322+13C>T	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 225461	NM_001014.5(RPS10):c.322+2_322+4dup	RPS10, RPS10-NUDT3	Duplication (splice donor variant)	Diamond-Blackfan anemia 9	GUncertain significance
Select item 1521087	NM_001014.5(RPS10):c.322+3A>G	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2134497	NM_001014.5(RPS10):c.317C>T (p.Pro106Leu)	RPS10, RPS10-NUDT3 (P106L)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 952913	NM_001014.5(RPS10):c.294_314dup (p.Glu100_Pro106dup)	RPS10, RPS10-NUDT3	Duplication (inframe_insertion)	Diamond-Blackfan anemia	GUncertain significance
Select item 2824117	NM_001014.5(RPS10):c.313C>T (p.Arg105Trp)	RPS10, RPS10-NUDT3 (R105W)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1558422	NM_001014.5(RPS10):c.312T>A (p.Pro104=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +2 more	GLikely benign
Select item 1137948	NM_001014.5(RPS10):c.297A>G (p.Pro99=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2918516	NM_001014.5(RPS10):c.289_294dup (p.Arg98_Pro99insSerArg)	RPS10, RPS10-NUDT3	Duplication (inframe_insertion)	Diamond-Blackfan anemia	GUncertain significance
Select item 3023391	NM_001014.5(RPS10):c.293G>A (p.Arg98His)	RPS10, RPS10-NUDT3 (R98H)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1337957	NM_001014.5(RPS10):c.292dup (p.Arg98fs)	RPS10, RPS10-NUDT3 (R98fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 653431	NM_001014.5(RPS10):c.285_292del (p.Arg96fs)	RPS10, RPS10-NUDT3 (R96fs)	Deletion (frameshift variant)	Diamond-Blackfan anemia	GPathogenic
Select item 3023392	NM_001014.5(RPS10):c.291C>G (p.Ser97Arg)	RPS10, RPS10-NUDT3 (S97R)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1797677	NM_001014.5(RPS10):c.291C>T (p.Ser97=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2447621	NM_001014.5(RPS10):c.288T>G (p.Arg96=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2893914	NM_001014.5(RPS10):c.285C>T (p.Arg95=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2723831	NM_001014.5(RPS10):c.282_284dup (p.Arg96_Ser97insArg)	RPS10, RPS10-NUDT3	Duplication (inframe_insertion)	Diamond-Blackfan anemia	GUncertain significance
Select item 1794680	NM_001014.5(RPS10):c.268_275del (p.Val90fs)	RPS10, RPS10-NUDT3 (V90fs)	Deletion (frameshift variant)	Diamond-Blackfan anemia	GPathogenic
Select item 1795053	NM_001014.5(RPS10):c.270G>A (p.Val90=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 463371	NM_001014.5(RPS10):c.261G>A (p.Pro87=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 9 +2 more	GConflicting classifications of pathogenicity
Select item 6186	NM_001014.5(RPS10):c.260dup (p.Glu88fs)	RPS10-NUDT3, RPS10 (E88fs)	Duplication (frameshift variant)	Diamond-Blackfan anemia 9	GPathogenic
Select item 238211	NM_001014.5(RPS10):c.231G>A (p.Gln77=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +2 more	GBenign/Likely benign
Select item 2857088	NM_001014.5(RPS10):c.222G>C (p.Glu74Asp)	RPS10, RPS10-NUDT3 (E74D)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 645567	NM_001014.5(RPS10):c.222G>A (p.Glu74=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 463370	NM_001014.5(RPS10):c.204C>T (p.Tyr68=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 2188558	NM_001014.5(RPS10):c.202T>C (p.Tyr68His)	RPS10, RPS10-NUDT3 (Y68H)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1121462	NM_001014.5(RPS10):c.201C>T (p.Phe67=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1610227	NM_001014.5(RPS10):c.189C>T (p.Ala63=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1082465	NM_001014.5(RPS10):c.186T>C (p.Phe62=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1461739	NM_001014.5(RPS10):c.171C>T (p.Tyr57=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign

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