ClinVar for Gene (Select 100529239) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3593520	NM_001014.5(RPS10):c.10C>G (p.Pro4Ala)	RPS10, RPS10-NUDT3 (P4A)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 9	GUncertain significance
Select item 3593519	NM_001014.5(RPS10):c.31A>G (p.Ile11Val)	RPS10, RPS10-NUDT3 (I11V)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 9	GUncertain significance
Select item 3593518	NM_001014.5(RPS10):c.77A>T (p.Asp26Val)	RPS10, RPS10-NUDT3 (D26V)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 9	GUncertain significance
Select item 3593517	NM_001014.5(RPS10):c.151-20A>C	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 9	GUncertain significance
Select item 3593516	NM_001014.5(RPS10):c.256C>T (p.Pro86Ser)	RPS10, RPS10-NUDT3 (P86S)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 9	GUncertain significance
Select item 3593513	NM_001014.5(RPS10):c.290G>C (p.Ser97Thr)	RPS10, RPS10-NUDT3 (S97T)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 9	GUncertain significance
Select item 3593512	NM_001014.5(RPS10):c.298G>C (p.Glu100Gln)	RPS10, RPS10-NUDT3 (E100Q)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 9	GUncertain significance
Select item 3593511	NM_001014.5(RPS10):c.331G>A (p.Gly111Ser)	RPS10, RPS10-NUDT3 (G111S)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 9	GUncertain significance
Select item 3593510	NM_001014.5(RPS10):c.485A>G (p.Gln162Arg)	RPS10, RPS10-NUDT3 (Q162R)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 9	GUncertain significance
Select item 3593508	NM_001014.5(RPS10):c.488C>A (p.Pro163Gln)	RPS10, RPS10-NUDT3 (P163Q)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 9	GUncertain significance
Select item 3435298	NM_001202470.3(RPS10-NUDT3):c.286C>T (p.Arg96Cys)	RPS10, RPS10-NUDT3 (R96C)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 9 +1 more	GUncertain significance
Select item 3435297	NM_001202470.3(RPS10-NUDT3):c.730G>A (p.Ala244Thr)	NUDT3, RPS10-NUDT3 (A125T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3408470	NM_006703.4(NUDT3):c.508G>T (p.Gly170Cys)	NUDT3, RPS10-NUDT3 (G170C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315280	NM_001202470.3(RPS10-NUDT3):c.203A>G (p.Tyr68Cys)	RPS10, RPS10-NUDT3 (Y68C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3232358	NM_001014.5(RPS10):c.60C>G (p.Val20=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 3202815	NM_006703.4(NUDT3):c.17C>T (p.Ser6Leu)	LOC129996212, NUDT3 +1 more (S6L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050583	NM_001014.5(RPS10):c.150+8G>T	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	RPS10-related disorder	GLikely benign
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 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 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 2991534	NM_001014.5(RPS10):c.322+17A>G	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2963862	NM_001014.5(RPS10):c.106G>A (p.Ala36Thr)	RPS10-NUDT3, RPS10 (A36T)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
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 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 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 2896682	NM_001014.5(RPS10):c.322+13C>T	RPS10, RPS10-NUDT3	Single nucleotide variant (intron 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 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 2869551	NM_001014.5(RPS10):c.22C>T (p.Arg8Trp)	RPS10, RPS10-NUDT3 (R8W)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
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 2857720	NM_001014.5(RPS10):c.400+19dup	RPS10, RPS10-NUDT3	Duplication (intron variant)	Diamond-Blackfan anemia	GLikely 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 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 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 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 2735244	NM_001014.5(RPS10):c.136A>G (p.Met46Val)	RPS10, RPS10-NUDT3 (M46V)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2731650	NM_001014.5(RPS10):c.98C>T (p.Pro33Leu)	RPS10, RPS10-NUDT3 (P33L)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2727151	NM_001014.5(RPS10):c.150+6_150+8del	RPS10, RPS10-NUDT3	Microsatellite (intron variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2726948	NM_001014.5(RPS10):c.121C>A (p.Pro41Thr)	RPS10, RPS10-NUDT3 (P41T)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
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 2716893	NM_001014.5(RPS10):c.409G>A (p.Asp137Asn)	RPS10, RPS10-NUDT3 (D137N)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	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 +1 more	GUncertain significance
Select item 2633296	NM_001014.5(RPS10):c.400+1G>A	RPS10, RPS10-NUDT3	Single nucleotide variant (splice donor variant)	RPS10-related disorder	GLikely pathogenic
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 2415379	NM_001014.5(RPS10):c.26T>C (p.Ile9Thr)	RPS10, RPS10-NUDT3 (I9T)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2320958	NM_006703.4(NUDT3):c.65C>G (p.Ala22Gly)	LOC129996212, NUDT3 +1 more (A22G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2281236	NM_006703.4(NUDT3):c.511A>T (p.Ile171Phe)	NUDT3, RPS10-NUDT3 (I171F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280203	NM_001202470.3(RPS10-NUDT3):c.130C>A (p.His44Asn)	RPS10, RPS10-NUDT3 (H44N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2200042	NM_001014.5(RPS10):c.165A>C (p.Arg55=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2199611	NM_001014.5(RPS10):c.151-20A>G	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely 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 2188557	NM_001014.5(RPS10):c.473G>A (p.Arg158His)	RPS10, RPS10-NUDT3 (R158H)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 9 +1 more	GUncertain significance
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 2160510	NM_001014.5(RPS10):c.151-19G>A	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2155538	NM_001014.5(RPS10):c.151-4A>G	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
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 2101905	NM_001014.5(RPS10):c.322+15C>T	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2082346	NM_001014.5(RPS10):c.401-11dup	RPS10, RPS10-NUDT3	Duplication (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2075331	NM_001014.5(RPS10):c.150+17G>A	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2073030	NM_001014.5(RPS10):c.19A>T (p.Asn7Tyr)	RPS10, RPS10-NUDT3 (N7Y)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2069725	NM_001014.5(RPS10):c.30C>A (p.Ala10=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous 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 2053062	NM_001014.5(RPS10):c.151-17A>G	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2043241	NM_001014.5(RPS10):c.493C>G (p.Gln165Glu)	RPS10, RPS10-NUDT3 (Q165E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2034752	NM_001014.5(RPS10):c.401-10dup	RPS10-NUDT3, RPS10	Duplication (intron 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 1920180	NM_001014.5(RPS10):c.323-18G>A	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
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 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 1794680	NM_001014.5(RPS10):c.268_275del (p.Val90fs)	RPS10, RPS10-NUDT3 (V90fs)	Deletion (frameshift variant)	Diamond-Blackfan anemia	GPathogenic
Select item 1779863	NM_001014.5(RPS10):c.105G>A (p.Leu35=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1770576	NM_001014.5(RPS10):c.134T>A (p.Val45Asp)	RPS10, RPS10-NUDT3 (V45D)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
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 1721039	NM_001014.5(RPS10):c.164G>T (p.Arg55Leu)	RPS10, RPS10-NUDT3 (R55L)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1674754	NM_001014.5(RPS10):c.322+16A>G	RPS10, RPS10-NUDT3	Single nucleotide variant (intron 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 +2 more	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 1636480	NM_001014.5(RPS10):c.400+17C>G	RPS10, RPS10-NUDT3	Single nucleotide variant (intron 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 1602620	NM_001014.5(RPS10):c.401-17G>A	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 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 1558422	NM_001014.5(RPS10):c.312T>A (p.Pro104=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 1521087	NM_001014.5(RPS10):c.322+3A>G	RPS10-NUDT3, RPS10	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
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 1461739	NM_001014.5(RPS10):c.171C>T (p.Tyr57=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
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 1434585	NM_001014.5(RPS10):c.164G>A (p.Arg55Gln)	RPS10, RPS10-NUDT3 (R55Q)	Single nucleotide variant (missense variant)	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 1362185	NM_001014.5(RPS10):c.323-4A>G	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1349051	NM_001014.5(RPS10):c.34T>C (p.Tyr12His)	RPS10, RPS10-NUDT3 (Y12H)	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 1337957	NM_001014.5(RPS10):c.292dup (p.Arg98fs)	RPS10, RPS10-NUDT3 (R98fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1336843	NM_001014.5(RPS10):c.444C>T (p.Thr148=)	RPS10, RPS10-NUDT3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1297423	NM_001014.5(RPS10):c.401-202T>A	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292678	NM_001014.5(RPS10):c.323-213del	RPS10, RPS10-NUDT3	Deletion (intron variant)	not provided	GBenign
Select item 1242605	NM_001014.5(RPS10):c.400+147A>G	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233207	NM_001014.5(RPS10):c.1-278C>T	RPS10, RPS10-NUDT3	Single nucleotide variant (intron variant)	not provided	GBenign

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