6135[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 12415411.	NC_000001.11:g.23691715C>T GRCh37: Chr1:24018205 GRCh38: Chr1:23691715	RPL11		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 12664102.	NC_000001.11:g.23691734C>T GRCh37: Chr1:24018224 GRCh38: Chr1:23691734	RPL11		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 1389263.	NM_000975.4(RPL11):c.-37C>G GRCh37: Chr1:24018277 GRCh38: Chr1:23691787	LOC129929673, RPL11		Congenital hypoplastic anemia, Diamond-Blackfan anemia 7	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 2968144.	NM_000975.5(RPL11):c.-14T>C GRCh37: Chr1:24018300 GRCh38: Chr1:23691810	LOC129929673, RPL11		Diamond-Blackfan anemia 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 5837625.	NC_000001.11:g.(?_23691814)_(23696383_?)del GRCh37: Chr1:24018304-24022873 GRCh38: Chr1:23691814-23696383	LOC129929673, RPL11		Congenital hypoplastic anemia	Pathogenic (Sep 21, 2018)	criteria provided, single submitter
Select item 5321786.	NM_000975.5(RPL11):c.4G>T (p.Ala2Ser) GRCh37: Chr1:24018317 GRCh38: Chr1:23691827	LOC129929673, RPL11	A2S	Congenital hypoplastic anemia	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 5790747.	NM_000975.5(RPL11):c.5C>T (p.Ala2Val) GRCh37: Chr1:24018318 GRCh38: Chr1:23691828	LOC129929673, RPL11	A2V	Congenital hypoplastic anemia	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 17510218.	NM_000975.5(RPL11):c.6+2T>C GRCh37: Chr1:24018321 GRCh38: Chr1:23691831	LOC129929673, RPL11		Congenital hypoplastic anemia	Pathogenic (Dec 26, 2014)	criteria provided, single submitter
Select item 6980439.	NM_000975.5(RPL11):c.6+8G>C GRCh37: Chr1:24018327 GRCh38: Chr1:23691837	LOC129929673, RPL11		not specified, Congenital hypoplastic anemia	Likely benign (Dec 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 163265110.	NM_000975.5(RPL11):c.6+9C>T GRCh37: Chr1:24018328 GRCh38: Chr1:23691838	RPL11, LOC129929673		Congenital hypoplastic anemia	Benign (Oct 2, 2022)	criteria provided, single submitter
Select item 156725711.	NM_000975.5(RPL11):c.6+14A>G GRCh37: Chr1:24018333 GRCh38: Chr1:23691843	LOC129929673, RPL11		Congenital hypoplastic anemia	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 162845712.	NM_000975.5(RPL11):c.6+15C>T GRCh37: Chr1:24018334 GRCh38: Chr1:23691844	LOC129929673, RPL11		Congenital hypoplastic anemia	Likely benign (Apr 10, 2021)	criteria provided, single submitter
Select item 210579913.	NM_000975.5(RPL11):c.6+16C>G GRCh37: Chr1:24018335 GRCh38: Chr1:23691845	RPL11, LOC129929673		Congenital hypoplastic anemia	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 156732114.	NM_000975.5(RPL11):c.6+16C>T GRCh37: Chr1:24018335 GRCh38: Chr1:23691845	LOC129929673, RPL11		Congenital hypoplastic anemia	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 220303115.	NM_000975.5(RPL11):c.6+18G>A GRCh37: Chr1:24018337 GRCh38: Chr1:23691847	LOC129929673, RPL11		Congenital hypoplastic anemia	Benign (Jan 5, 2022)	criteria provided, single submitter
Select item 162756216.	NM_000975.5(RPL11):c.6+18_6+19delinsAT GRCh37: Chr1:24018337-24018338 GRCh38: Chr1:23691847-23691848	LOC129929673, RPL11		Congenital hypoplastic anemia	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 50892517.	NM_000975.5(RPL11):c.6+19G>T GRCh37: Chr1:24018338 GRCh38: Chr1:23691848	LOC129929673, RPL11		Congenital hypoplastic anemia, not specified	Benign/Likely benign (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 190248618.	NM_000975.5(RPL11):c.6+20A>T GRCh37: Chr1:24018339 GRCh38: Chr1:23691849	LOC129929673, RPL11		Congenital hypoplastic anemia	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 37921719.	NM_000975.5(RPL11):c.6+50G>T GRCh37: Chr1:24018369 GRCh38: Chr1:23691879	LOC129929673, RPL11		not specified	Benign (Jan 20, 2016)	criteria provided, single submitter
Select item 124326120.	NM_000975.5(RPL11):c.6+68G>T GRCh37: Chr1:24018387 GRCh38: Chr1:23691897	LOC129929673, RPL11		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 125191621.	NM_000975.5(RPL11):c.7-146T>C GRCh37: Chr1:24018953 GRCh38: Chr1:23692463	RPL11		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 128918922.	NM_000975.5(RPL11):c.7-134T>G GRCh37: Chr1:24018965 GRCh38: Chr1:23692475	RPL11		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 126615523.	NM_000975.5(RPL11):c.7-100T>C GRCh37: Chr1:24018999 GRCh38: Chr1:23692509	RPL11		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 44555024.	NM_000975.5(RPL11):c.7-20G>T GRCh37: Chr1:24019079 GRCh38: Chr1:23692589	RPL11		not provided, Congenital hypoplastic anemia	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 193501625.	NM_000975.5(RPL11):c.7-19C>T GRCh37: Chr1:24019080 GRCh38: Chr1:23692590	RPL11		Congenital hypoplastic anemia	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 110296026.	NM_000975.5(RPL11):c.7-10C>T GRCh37: Chr1:24019089 GRCh38: Chr1:23692599	RPL11		Congenital hypoplastic anemia	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 167197227.	NM_000975.5(RPL11):c.7-9C>T GRCh37: Chr1:24019090 GRCh38: Chr1:23692600	RPL11		Congenital hypoplastic anemia	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 85856228.	NM_000975.5(RPL11):c.7-1G>T GRCh37: Chr1:24019098 GRCh38: Chr1:23692608	RPL11		Congenital hypoplastic anemia	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 218723129.	NM_000975.5(RPL11):c.7C>G (p.Gln3Glu) GRCh37: Chr1:24019099 GRCh38: Chr1:23692609	RPL11	Q3E	Congenital hypoplastic anemia	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 96122830.	NM_000975.5(RPL11):c.14A>G (p.Gln5Arg) GRCh37: Chr1:24019106 GRCh38: Chr1:23692616	RPL11	Q5R, Q4R	Diamond-Blackfan anemia 7, Congenital hypoplastic anemia	Uncertain significance (Oct 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 148045131.	NM_000975.5(RPL11):c.23A>G (p.Lys8Arg) GRCh37: Chr1:24019115 GRCh38: Chr1:23692625	RPL11	K7R, K8R	Congenital hypoplastic anemia	Uncertain significance (Aug 9, 2021)	criteria provided, single submitter
Select item 53218132.	NM_000975.5(RPL11):c.24G>A (p.Lys8=) GRCh37: Chr1:24019116 GRCh38: Chr1:23692626	RPL11		Congenital hypoplastic anemia	Likely benign (Sep 7, 2017)	criteria provided, single submitter
Select item 244220333.	NM_000975.5(RPL11):c.28A>T (p.Asn10Tyr) GRCh37: Chr1:24019120 GRCh38: Chr1:23692630	RPL11	N10Y, N9Y	Diamond-Blackfan anemia 7	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter
Select item 173102534.	NM_000975.5(RPL11):c.33del (p.Met12fs) GRCh37: Chr1:24019122 GRCh38: Chr1:23692632	RPL11	M11fs, M12fs	Congenital hypoplastic anemia	Pathogenic (Jun 22, 2016)	criteria provided, single submitter
Select item 29681535.	NM_000975.5(RPL11):c.30C>T (p.Asn10=) GRCh37: Chr1:24019122 GRCh38: Chr1:23692632	RPL11		Diamond-Blackfan anemia 7, Congenital hypoplastic anemia, not provided	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 115069936.	NM_000975.5(RPL11):c.33C>T (p.Pro11=) GRCh37: Chr1:24019125 GRCh38: Chr1:23692635	RPL11		Congenital hypoplastic anemia	Likely benign (May 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214231537.	NM_000975.5(RPL11):c.38G>A (p.Arg13Gln) GRCh37: Chr1:24019130 GRCh38: Chr1:23692640	RPL11	R12Q, R13Q	Congenital hypoplastic anemia	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 52268738.	NM_000975.5(RPL11):c.43_49del (p.Leu15fs) GRCh37: Chr1:24019134-24019140 GRCh38: Chr1:23692644-23692650	RPL11	L14fs, L15fs	Diamond-Blackfan anemia 7	Pathogenic (Dec 3, 2017)	criteria provided, single submitter
Select item 160064639.	NM_000975.5(RPL11):c.51C>T (p.Ile17=) GRCh37: Chr1:24019143 GRCh38: Chr1:23692653	RPL11		Congenital hypoplastic anemia	Benign (Apr 30, 2021)	criteria provided, single submitter
Select item 208292940.	NM_000975.5(RPL11):c.53_58del (p.Arg18_Lys19del) GRCh37: Chr1:24019144-24019149 GRCh38: Chr1:23692654-23692659	RPL11		Congenital hypoplastic anemia	Uncertain significance (Jan 14, 2022)	criteria provided, single submitter
Select item 575241.	NM_000975.5(RPL11):c.60_61del (p.Cys21fs) GRCh37: Chr1:24019150-24019151 GRCh38: Chr1:23692660-23692661	RPL11	C20fs, C21fs	RPL11-related condition, Congenital hypoplastic anemia, Diamond-Blackfan anemia 7	Pathogenic (Jul 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 165313542.	NM_000975.5(RPL11):c.60C>G (p.Leu20=) GRCh37: Chr1:24019152 GRCh38: Chr1:23692662	RPL11		Congenital hypoplastic anemia	Likely benign (Feb 1, 2021)	criteria provided, single submitter
Select item 64301843.	NM_000975.5(RPL11):c.62_63del (p.Cys21fs) GRCh37: Chr1:24019153-24019154 GRCh38: Chr1:23692663-23692664	RPL11	C21fs, C20fs	Congenital hypoplastic anemia	Pathogenic (May 8, 2022)	criteria provided, single submitter
Select item 136648544.	NM_000975.5(RPL11):c.68A>G (p.Asn23Ser) GRCh37: Chr1:24019160 GRCh38: Chr1:23692670	RPL11	N22S, N23S	Diamond-Blackfan anemia 7, Congenital hypoplastic anemia	Uncertain significance (Apr 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154542645.	NM_000975.5(RPL11):c.72C>T (p.Ile24=) GRCh37: Chr1:24019164 GRCh38: Chr1:23692674	RPL11		Congenital hypoplastic anemia	Likely benign (Jun 26, 2021)	criteria provided, single submitter
Select item 175975346.	NM_000975.5(RPL11):c.75T>C (p.Cys25=) GRCh37: Chr1:24019167 GRCh38: Chr1:23692677	RPL11		Congenital hypoplastic anemia	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 170816047.	NM_000975.5(RPL11):c.94_97del (p.Asp31_Arg32insTer) GRCh37: Chr1:24019182-24019185 GRCh38: Chr1:23692692-23692695	RPL11		not provided, Diamond-Blackfan anemia 7	Pathogenic (Jan 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 201090748.	NM_000975.5(RPL11):c.96_109del (p.Arg32fs) GRCh37: Chr1:24019185-24019198 GRCh38: Chr1:23692695-23692708	RPL11	R32fs, R31fs	Congenital hypoplastic anemia	Pathogenic (Jun 26, 2022)	criteria provided, single submitter
Select item 243194149.	NM_000975.5(RPL11):c.95_96del (p.Arg32fs) GRCh37: Chr1:24019186-24019187 GRCh38: Chr1:23692696-23692697	RPL11	R31fs, R32fs	Diamond-Blackfan anemia 7	Pathogenic (May 27, 2022)	criteria provided, single submitter
Select item 177075850.	NM_000975.5(RPL11):c.102dup (p.Arg35fs) GRCh37: Chr1:24019193-24019194 GRCh38: Chr1:23692703-23692704	RPL11	R34fs, R35fs	Congenital hypoplastic anemia	Pathogenic (Jun 28, 2017)	criteria provided, single submitter
Select item 69954351.	NM_000975.5(RPL11):c.102G>C (p.Thr34=) GRCh37: Chr1:24019194 GRCh38: Chr1:23692704	RPL11		Congenital hypoplastic anemia	Benign (Aug 17, 2021)	criteria provided, single submitter
Select item 29681652.	NM_000975.5(RPL11):c.102G>A (p.Thr34=) GRCh37: Chr1:24019194 GRCh38: Chr1:23692704	RPL11		Congenital hypoplastic anemia, Diamond-Blackfan anemia 7	Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107465353.	NM_000975.5(RPL11):c.107del (p.Ala36fs) GRCh37: Chr1:24019199 GRCh38: Chr1:23692709	RPL11	A35fs, A36fs	Congenital hypoplastic anemia	Pathogenic (Oct 23, 2020)	criteria provided, single submitter
Select item 53218054.	NM_000975.5(RPL11):c.111del (p.Lys38fs) GRCh37: Chr1:24019202 GRCh38: Chr1:23692712	RPL11	K37fs, K38fs	Congenital hypoplastic anemia	Pathogenic (Nov 29, 2017)	criteria provided, single submitter
Select item 28029755.	NM_000975.5(RPL11):c.116dup (p.Leu40fs) GRCh37: Chr1:24019207-24019208 GRCh38: Chr1:23692717-23692718	RPL11	L40fs, L39fs	not provided	Pathogenic (Jan 25, 2016)	criteria provided, single submitter
Select item 70710956.	NM_000975.5(RPL11):c.117G>A (p.Val39=) GRCh37: Chr1:24019209 GRCh38: Chr1:23692719	RPL11		Congenital hypoplastic anemia	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 194430257.	NM_000975.5(RPL11):c.118T>C (p.Leu40=) GRCh37: Chr1:24019210 GRCh38: Chr1:23692720	RPL11		Congenital hypoplastic anemia	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 106998658.	NM_000975.5(RPL11):c.121G>T (p.Glu41Ter) GRCh37: Chr1:24019213 GRCh38: Chr1:23692723	RPL11	E40, E41	Congenital hypoplastic anemia	Pathogenic (Aug 31, 2020)	criteria provided, single submitter
Select item 170553159.	NM_000975.5(RPL11):c.124C>T (p.Gln42Ter) GRCh37: Chr1:24019216 GRCh38: Chr1:23692726	RPL11	Q41, Q42	Diamond-Blackfan anemia 7	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 146677360.	NM_000975.5(RPL11):c.136_157+26del GRCh37: Chr1:24019222-24019269 GRCh38: Chr1:23692732-23692779	RPL11		Congenital hypoplastic anemia	Likely pathogenic (Jun 3, 2021)	criteria provided, single submitter
Select item 243547361.	NM_000975.5(RPL11):c.139A>G (p.Thr47Ala) GRCh37: Chr1:24019231 GRCh38: Chr1:23692741	RPL11	T46A, T47A	Diamond-Blackfan anemia 7	Uncertain significance (Jan 16, 2023)	criteria provided, single submitter
Select item 81288362.	NM_000975.5(RPL11):c.142_143dup (p.Val49fs) GRCh37: Chr1:24019231-24019232 GRCh38: Chr1:23692741-23692742	RPL11	V48fs, V49fs	Anemia, Reticulocytopenia	Likely pathogenic	no assertion criteria provided
Select item 211762163.	NM_000975.5(RPL11):c.142C>T (p.Pro48Ser) GRCh37: Chr1:24019234 GRCh38: Chr1:23692744	RPL11	P47S, P48S	Congenital hypoplastic anemia	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 45114764.	NM_000975.5(RPL11):c.143_144del (p.Pro48fs) GRCh37: Chr1:24019235-24019236 GRCh38: Chr1:23692745-23692746	RPL11	P48fs, P47fs	not provided	Pathogenic (Aug 3, 2017)	criteria provided, single submitter
Select item 136316065.	NM_000975.5(RPL11):c.151dup (p.Ser51fs) GRCh37: Chr1:24019239-24019240 GRCh38: Chr1:23692749-23692750	RPL11	S50fs, S51fs	Congenital hypoplastic anemia	Pathogenic (Oct 2, 2021)	criteria provided, single submitter
Select item 29681766.	NM_000975.5(RPL11):c.153C>T (p.Ser51=) GRCh37: Chr1:24019245 GRCh38: Chr1:23692755	RPL11		Diamond-Blackfan anemia 7, Congenital hypoplastic anemia	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216064167.	NM_000975.5(RPL11):c.157+9T>G GRCh37: Chr1:24019258 GRCh38: Chr1:23692768	RPL11		Congenital hypoplastic anemia	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 165613368.	NM_000975.5(RPL11):c.158-18G>C GRCh37: Chr1:24020279 GRCh38: Chr1:23693789	RPL11		Congenital hypoplastic anemia, Diamond-Blackfan anemia 7	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100308269.	NM_000975.5(RPL11):c.158-7C>G GRCh37: Chr1:24020290 GRCh38: Chr1:23693800	RPL11		Congenital hypoplastic anemia	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 29681870.	NM_000975.5(RPL11):c.158-7C>T GRCh37: Chr1:24020290 GRCh38: Chr1:23693800	RPL11		Diamond-Blackfan anemia 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 177573071.	NM_000975.5(RPL11):c.158-2A>C GRCh37: Chr1:24020295 GRCh38: Chr1:23693805	RPL11		Congenital hypoplastic anemia	Pathogenic (Sep 9, 2016)	criteria provided, single submitter
Select item 177571572.	NM_000975.5(RPL11):c.158-1G>C GRCh37: Chr1:24020296 GRCh38: Chr1:23693806	RPL11		Congenital hypoplastic anemia	Pathogenic (Aug 15, 2023)	criteria provided, single submitter
Select item 575473.	NM_000975.5(RPL11):c.158-1G>A GRCh37: Chr1:24020296 GRCh38: Chr1:23693806	RPL11		Congenital hypoplastic anemia	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 85699174.	NM_000975.5(RPL11):c.160dup (p.Arg54fs) GRCh37: Chr1:24020298-24020299 GRCh38: Chr1:23693808-23693809	RPL11	R53fs, R54fs	Congenital hypoplastic anemia	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 69863775.	NM_000975.5(RPL11):c.171C>G (p.Val57=) GRCh37: Chr1:24020310 GRCh38: Chr1:23693820	RPL11		Congenital hypoplastic anemia	Likely benign (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 178056676.	NM_000975.5(RPL11):c.180T>C (p.Phe60=) GRCh37: Chr1:24020319 GRCh38: Chr1:23693829	RPL11		Congenital hypoplastic anemia	Likely benign (May 24, 2021)	criteria provided, single submitter
Select item 110761377.	NM_000975.5(RPL11):c.189G>A (p.Arg63=) GRCh37: Chr1:24020328 GRCh38: Chr1:23693838	RPL11		Congenital hypoplastic anemia	Likely benign (May 10, 2019)	criteria provided, single submitter
Select item 94166178.	NM_000975.5(RPL11):c.203T>C (p.Ile68Thr) GRCh37: Chr1:24020342 GRCh38: Chr1:23693852	RPL11	I67T, I68T	Congenital hypoplastic anemia	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 10064179.	NM_000975.5(RPL11):c.204del (p.Ile68fs) GRCh37: Chr1:24020342 GRCh38: Chr1:23693852	RPL11	I68fs, I67fs	Diamond-Blackfan anemia 7	Pathogenic (Aug 1, 2013)	no assertion criteria provided
Select item 159038280.	NM_000975.5(RPL11):c.213C>T (p.His71=) GRCh37: Chr1:24020352 GRCh38: Chr1:23693862	RPL11		Congenital hypoplastic anemia	Benign/Likely benign (Feb 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 206302381.	NM_000975.5(RPL11):c.217A>G (p.Thr73Ala) GRCh37: Chr1:24020356 GRCh38: Chr1:23693866	RPL11	T73A, T72A	Congenital hypoplastic anemia	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 198612982.	NM_000975.5(RPL11):c.219A>G (p.Thr73=) GRCh37: Chr1:24020358 GRCh38: Chr1:23693868	RPL11		Congenital hypoplastic anemia	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 198128383.	NM_000975.5(RPL11):c.222T>G (p.Val74=) GRCh37: Chr1:24020361 GRCh38: Chr1:23693871	RPL11		Congenital hypoplastic anemia	Likely benign (Dec 25, 2021)	criteria provided, single submitter
Select item 575184.	NM_000975.5(RPL11):c.223C>T (p.Arg75Ter) GRCh37: Chr1:24020362 GRCh38: Chr1:23693872	RPL11	R75, R74	not provided, Diamond-Blackfan anemia 7, Congenital hypoplastic anemia	Pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 52130185.	NM_000975.5(RPL11):c.224G>A (p.Arg75Gln) GRCh37: Chr1:24020363 GRCh38: Chr1:23693873	RPL11	R75Q, R74Q	Inborn genetic diseases	Uncertain significance (Feb 23, 2017)	criteria provided, single submitter
Select item 243547186.	NM_000975.5(RPL11):c.238GAA[1] (p.Glu81del) GRCh37: Chr1:24020376-24020378 GRCh38: Chr1:23693886-23693888	RPL11	E80del, E81del	Diamond-Blackfan anemia 7	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 23820187.	NM_000975.5(RPL11):c.258T>G (p.Gly86=) GRCh37: Chr1:24020397 GRCh38: Chr1:23693907	RPL11		Diamond-Blackfan anemia 7, Congenital hypoplastic anemia	Conflicting interpretations of pathogenicity (Jun 17, 2022)	criteria provided, conflicting interpretations
Select item 53217788.	NM_000975.5(RPL11):c.264+1G>A GRCh37: Chr1:24020404 GRCh38: Chr1:23693914	RPL11		Congenital hypoplastic anemia	Likely pathogenic (Oct 10, 2017)	criteria provided, single submitter
Select item 243547289.	NM_000975.5(RPL11):c.264+3G>A GRCh37: Chr1:24020406 GRCh38: Chr1:23693916	RPL11		Diamond-Blackfan anemia 7	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 87505590.	NM_000975.5(RPL11):c.264+9A>T GRCh37: Chr1:24020412 GRCh38: Chr1:23693922	RPL11		Diamond-Blackfan anemia 7, Congenital hypoplastic anemia	Conflicting interpretations of pathogenicity (May 16, 2022)	criteria provided, conflicting interpretations
Select item 166258691.	NM_000975.5(RPL11):c.264+15C>A GRCh37: Chr1:24020418 GRCh38: Chr1:23693928	RPL11		Congenital hypoplastic anemia	Likely benign (May 29, 2021)	criteria provided, single submitter
Select item 124409792.	NM_000975.5(RPL11):c.264+67A>G GRCh37: Chr1:24020470 GRCh38: Chr1:23693980	RPL11		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 203982093.	NM_000975.5(RPL11):c.265-6C>T GRCh37: Chr1:24021144 GRCh38: Chr1:23694654	RPL11		Congenital hypoplastic anemia	Likely benign (Dec 11, 2021)	criteria provided, single submitter
Select item 149426994.	NM_000975.5(RPL11):c.265-2A>G GRCh37: Chr1:24021148 GRCh38: Chr1:23694658	RPL11		Congenital hypoplastic anemia	Likely pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 83911395.	NM_000975.5(RPL11):c.269G>A (p.Arg90Gln) GRCh37: Chr1:24021154 GRCh38: Chr1:23694664	RPL11	R89Q, R90Q	Congenital hypoplastic anemia	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 29681996.	NM_000975.5(RPL11):c.270G>A (p.Arg90=) GRCh37: Chr1:24021155 GRCh38: Chr1:23694665	RPL11		Diamond-Blackfan anemia 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87505697.	NM_000975.5(RPL11):c.287A>G (p.Lys96Arg) GRCh37: Chr1:24021172 GRCh38: Chr1:23694682	RPL11	K95R, K96R	Diamond-Blackfan anemia 7	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 43655098.	NM_000975.5(RPL11):c.296_298del (p.Phe99del) GRCh37: Chr1:24021179-24021181 GRCh38: Chr1:23694689-23694691	RPL11	F99del, F98del	not specified	Uncertain significance (Jul 28, 2016)	criteria provided, single submitter
Select item 179839699.	NM_000975.5(RPL11):c.298_299del (p.Ser100fs) GRCh37: Chr1:24021181-24021182 GRCh38: Chr1:23694691-23694692	RPL11	S100fs, S99fs	Congenital hypoplastic anemia	Pathogenic (Mar 15, 2017)	criteria provided, single submitter
Select item 1309088100.	NM_000975.5(RPL11):c.297C>G (p.Phe99Leu) GRCh37: Chr1:24021182 GRCh38: Chr1:23694692	RPL11	F98L, F99L	not provided	Uncertain significance (Feb 7, 2023)	criteria provided, single submitter

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