6135[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 1241541	NC_000001.11:g.23691715C>T	RPL11	Single nucleotide variant	not provided	GBenign
Select item 1266410	NC_000001.11:g.23691734C>T	RPL11	Single nucleotide variant	not provided	GBenign
Select item 138926	NM_000975.4(RPL11):c.-37C>G	RPL11, LOC129929673	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia +1 more	GBenign
Select item 296814	NM_000975.5(RPL11):c.-14T>C	LOC129929673, RPL11	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 7	GUncertain significance
Select item 583762	NC_000001.11:g.(?_23691814)_(23696383_?)del	LOC129929673, RPL11	Deletion	Diamond-Blackfan anemia	GPathogenic
Select item 3040903	NM_000975.5(RPL11):c.-7C>T	LOC129929673, RPL11	Single nucleotide variant (5 prime UTR variant)	RPL11-related condition	GLikely benign
Select item 532178	NM_000975.5(RPL11):c.4G>T (p.Ala2Ser)	LOC129929673, RPL11 (A2S)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 579074	NM_000975.5(RPL11):c.5C>T (p.Ala2Val)	LOC129929673, RPL11 (A2V)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1751021	NM_000975.5(RPL11):c.6+2T>C	LOC129929673, RPL11	Single nucleotide variant (splice donor variant)	Diamond-Blackfan anemia	GPathogenic
Select item 2739493	NM_000975.5(RPL11):c.6+3G>A	LOC129929673, RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2893716	NM_000975.5(RPL11):c.6+8G>T	LOC129929673, RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 698043	NM_000975.5(RPL11):c.6+8G>C	LOC129929673, RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 1632651	NM_000975.5(RPL11):c.6+9C>T	LOC129929673, RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GBenign
Select item 2994422	NM_000975.5(RPL11):c.6+10T>A	LOC129929673, RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2713583	NM_000975.5(RPL11):c.6+12G>C	LOC129929673, RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1567257	NM_000975.5(RPL11):c.6+14A>G	LOC129929673, RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1628457	NM_000975.5(RPL11):c.6+15C>T	LOC129929673, RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2105799	NM_000975.5(RPL11):c.6+16C>G	LOC129929673, RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1567321	NM_000975.5(RPL11):c.6+16C>T	LOC129929673, RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2203031	NM_000975.5(RPL11):c.6+18G>A	LOC129929673, RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GBenign
Select item 1627562	NM_000975.5(RPL11):c.6+18_6+19delinsAT	LOC129929673, RPL11	Indel (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2875516	NM_000975.5(RPL11):c.6+19G>C	LOC129929673, RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 508925	NM_000975.5(RPL11):c.6+19G>T	LOC129929673, RPL11	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1902486	NM_000975.5(RPL11):c.6+20A>T	LOC129929673, RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 379217	NM_000975.5(RPL11):c.6+50G>T	LOC129929673, RPL11	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1243261	NM_000975.5(RPL11):c.6+68G>T	LOC129929673, RPL11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251916	NM_000975.5(RPL11):c.7-146T>C	RPL11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289189	NM_000975.5(RPL11):c.7-134T>G	RPL11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266155	NM_000975.5(RPL11):c.7-100T>C	RPL11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 445550	NM_000975.5(RPL11):c.7-20G>T	RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +1 more	GBenign/Likely benign
Select item 1935016	NM_000975.5(RPL11):c.7-19C>T	RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1102960	NM_000975.5(RPL11):c.7-10C>T	RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1671972	NM_000975.5(RPL11):c.7-9C>T	RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2803623	NM_000975.5(RPL11):c.7-7G>C	RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2740977	NM_000975.5(RPL11):c.7-6T>G	RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 858562	NM_000975.5(RPL11):c.7-1G>T	RPL11	Single nucleotide variant (intron variant +1 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2187231	NM_000975.5(RPL11):c.7C>G (p.Gln3Glu)	RPL11 (Q3E)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2751821	NM_000975.5(RPL11):c.9G>A (p.Gln3=)	RPL11	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 961228	NM_000975.5(RPL11):c.14A>G (p.Gln5Arg)	RPL11 (Q5R +1 more)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 1480451	NM_000975.5(RPL11):c.23A>G (p.Lys8Arg)	RPL11 (K7R +1 more)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 532181	NM_000975.5(RPL11):c.24G>A (p.Lys8=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2442203	NM_000975.5(RPL11):c.28A>T (p.Asn10Tyr)	RPL11 (N10Y +1 more)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 7	GUncertain significance
Select item 1731025	NM_000975.5(RPL11):c.33del (p.Met12fs)	RPL11 (M11fs +1 more)	Deletion (frameshift variant)	Diamond-Blackfan anemia	GPathogenic
Select item 296815	NM_000975.5(RPL11):c.30C>T (p.Asn10=)	RPL11	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1150699	NM_000975.5(RPL11):c.33C>T (p.Pro11=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2142315	NM_000975.5(RPL11):c.38G>A (p.Arg13Gln)	RPL11 (R12Q +1 more)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 522687	NM_000975.5(RPL11):c.43_49del (p.Leu15fs)	RPL11 (L14fs +1 more)	Deletion (frameshift variant)	Diamond-Blackfan anemia 7	GPathogenic
Select item 3047938	NM_000975.5(RPL11):c.47G>A (p.Arg16His)	RPL11 (R15H +1 more)	Single nucleotide variant (missense variant)	RPL11-related condition	GUncertain significance
Select item 1600646	NM_000975.5(RPL11):c.51C>T (p.Ile17=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GBenign
Select item 2082929	NM_000975.5(RPL11):c.53_58del (p.Arg18_Lys19del)	RPL11	Deletion (inframe_deletion)	Diamond-Blackfan anemia	GUncertain significance
Select item 5752	NM_000975.5(RPL11):c.60_61del (p.Cys21fs)	RPL11 (C20fs +1 more)	Microsatellite (frameshift variant)	RPL11-related condition +2 more	GPathogenic
Select item 1653135	NM_000975.5(RPL11):c.60C>G (p.Leu20=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 643018	NM_000975.5(RPL11):c.62_63del (p.Cys21fs)	RPL11 (C21fs +1 more)	Deletion (frameshift variant)	Diamond-Blackfan anemia	GPathogenic
Select item 1366485	NM_000975.5(RPL11):c.68A>G (p.Asn23Ser)	RPL11 (N22S +1 more)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 7 +1 more	GUncertain significance
Select item 1545426	NM_000975.5(RPL11):c.72C>T (p.Ile24=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1759753	NM_000975.5(RPL11):c.75T>C (p.Cys25=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2736865	NM_000975.5(RPL11):c.87T>C (p.Ser29=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1708160	NM_000975.5(RPL11):c.94_97del (p.Asp31_Arg32insTer)	RPL11	Microsatellite (nonsense)	not provided +1 more	GPathogenic
Select item 2010907	NM_000975.5(RPL11):c.96_109del (p.Arg32fs)	RPL11 (R32fs +1 more)	Deletion (frameshift variant)	Diamond-Blackfan anemia	GPathogenic
Select item 2729200	NM_000975.5(RPL11):c.94A>C (p.Arg32=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2431941	NM_000975.5(RPL11):c.95_96del (p.Arg32fs)	RPL11 (R31fs +1 more)	Deletion (frameshift variant)	Diamond-Blackfan anemia 7	GPathogenic
Select item 2733860	NM_000975.5(RPL11):c.100dup (p.Thr34fs)	RPL11 (T34fs +1 more)	Duplication (frameshift variant)	Diamond-Blackfan anemia	GPathogenic
Select item 1770758	NM_000975.5(RPL11):c.102dup (p.Arg35fs)	RPL11 (R34fs +1 more)	Duplication (frameshift variant)	Diamond-Blackfan anemia	GPathogenic
Select item 699543	NM_000975.5(RPL11):c.102G>C (p.Thr34=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GBenign
Select item 296816	NM_000975.5(RPL11):c.102G>A (p.Thr34=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 1074653	NM_000975.5(RPL11):c.107del (p.Ala36fs)	RPL11 (A35fs +1 more)	Deletion (frameshift variant)	Diamond-Blackfan anemia	GPathogenic
Select item 532180	NM_000975.5(RPL11):c.111del (p.Lys38fs)	RPL11 (K37fs +1 more)	Deletion (frameshift variant)	Diamond-Blackfan anemia	GPathogenic
Select item 280297	NM_000975.5(RPL11):c.116dup (p.Leu40fs)	RPL11 (L40fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 707109	NM_000975.5(RPL11):c.117G>A (p.Val39=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1944302	NM_000975.5(RPL11):c.118T>C (p.Leu40=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1069986	NM_000975.5(RPL11):c.121G>T (p.Glu41Ter)	RPL11 (E40* +1 more)	Single nucleotide variant (nonsense)	Diamond-Blackfan anemia	GPathogenic
Select item 2827203	NM_000975.5(RPL11):c.123G>A (p.Glu41=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1705531	NM_000975.5(RPL11):c.124C>T (p.Gln42Ter)	RPL11 (Q41* +1 more)	Single nucleotide variant (nonsense)	Diamond-Blackfan anemia 7	GPathogenic
Select item 1466773	NM_000975.5(RPL11):c.136_157+26del	RPL11	Deletion (splice donor variant)	Diamond-Blackfan anemia	GLikely pathogenic
Select item 2435473	NM_000975.5(RPL11):c.139A>G (p.Thr47Ala)	RPL11 (T46A +1 more)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 7	GUncertain significance
Select item 812883	NM_000975.5(RPL11):c.142_143dup (p.Val49fs)	RPL11 (V48fs +1 more)	Duplication (frameshift variant)	Anemia +1 more	GLikely pathogenic
Select item 2117621	NM_000975.5(RPL11):c.142C>T (p.Pro48Ser)	RPL11 (P47S +1 more)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 451147	NM_000975.5(RPL11):c.143_144del (p.Pro48fs)	RPL11 (P48fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1363160	NM_000975.5(RPL11):c.151dup (p.Ser51fs)	RPL11 (S50fs +1 more)	Duplication (frameshift variant)	Diamond-Blackfan anemia	GPathogenic
Select item 296817	NM_000975.5(RPL11):c.153C>T (p.Ser51=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GBenign/Likely benign
Select item 2768786	NM_000975.5(RPL11):c.157+7dup	RPL11	Duplication (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2160641	NM_000975.5(RPL11):c.157+9T>G	RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1656133	NM_000975.5(RPL11):c.158-18G>C	RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +1 more	GBenign
Select item 1003082	NM_000975.5(RPL11):c.158-7C>G	RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 296818	NM_000975.5(RPL11):c.158-7C>T	RPL11	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +1 more	GConflicting classifications of pathogenicity
Select item 1775730	NM_000975.5(RPL11):c.158-2A>C	RPL11	Single nucleotide variant (splice acceptor variant)	Diamond-Blackfan anemia	GPathogenic
Select item 1775715	NM_000975.5(RPL11):c.158-1G>C	RPL11	Single nucleotide variant (splice acceptor variant)	Diamond-Blackfan anemia	GPathogenic
Select item 5754	NM_000975.5(RPL11):c.158-1G>A	RPL11	Single nucleotide variant (splice acceptor variant)	Diamond-Blackfan anemia	GPathogenic
Select item 856991	NM_000975.5(RPL11):c.160dup (p.Arg54fs)	RPL11 (R53fs +1 more)	Duplication (frameshift variant)	Diamond-Blackfan anemia	GPathogenic
Select item 698637	NM_000975.5(RPL11):c.171C>G (p.Val57=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1780566	NM_000975.5(RPL11):c.180T>C (p.Phe60=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1107613	NM_000975.5(RPL11):c.189G>A (p.Arg63=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 941661	NM_000975.5(RPL11):c.203T>C (p.Ile68Thr)	RPL11 (I67T +1 more)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 100641	NM_000975.5(RPL11):c.204del (p.Ile68fs)	RPL11 (I68fs +1 more)	Deletion (frameshift variant)	Diamond-Blackfan anemia 7	GPathogenic
Select item 1590382	NM_000975.5(RPL11):c.213C>T (p.His71=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GBenign/Likely benign
Select item 2826780	NM_000975.5(RPL11):c.214T>C (p.Cys72Arg)	RPL11 (C71R +1 more)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2063023	NM_000975.5(RPL11):c.217A>G (p.Thr73Ala)	RPL11 (T73A +1 more)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1986129	NM_000975.5(RPL11):c.219A>G (p.Thr73=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1981283	NM_000975.5(RPL11):c.222T>G (p.Val74=)	RPL11	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign

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