C0035335 - ClinVar

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VariationLocation		Gene(s)	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1268151.	LRG_517:g.5168-?_5303+?(2)	RB1	Retinoblastoma	Pathogenic (Sep 16, 2013)	no assertion criteria provided
Select item 1268022.	LRG_517:g.166501C>G	RB1	Retinoblastoma	Pathogenic (Sep 16, 2013)	no assertion criteria provided
Select item 1267993.	LRG_517:g.1662319T>A	RB1	Retinoblastoma	Pathogenic (Sep 16, 2013)	no assertion criteria provided
Select item 1267874.	LRG_517:g.154289dup	RB1	Retinoblastoma	Pathogenic (Sep 16, 2013)	no assertion criteria provided
Select item 130805.	RB1, 5-BP DEL, EX8	RB1	Retinoblastoma	Pathogenic (Nov 1, 1989)	no assertion criteria provided
Select item 1419256.	NM_001128425.1(MUTYH):c.1393C>G (p.Pro465Ala) GRCh37: Chr1:45796937 GRCh38: Chr1:45331265	MUTYH	MYH-associated polyposis, Retinoblastoma, not specified, not provided, Hereditary cancer-predisposing syndrome	Uncertain significance (Jan 2, 2019)	criteria provided, multiple submitters, no conflicts
Select item 4043677.	NM_004304.4(ALK):c.3115G>A (p.Val1039Met) GRCh37: Chr2:29448384 GRCh38: Chr2:29225518	ALK	Retinoblastoma, Neuroblastoma 3	Uncertain significance (Feb 19, 2018)	criteria provided, multiple submitters, no conflicts
Select item 6206188.	NM_002880.3(RAF1):c.31A>T (p.Ile11Phe) GRCh37: Chr3:12660190 GRCh38: Chr3:12618691	RAF1	Retinoblastoma	Uncertain significance (Mar 7, 2017)	criteria provided, single submitter
Select item 1483269.	GRCh38/hg38 4q28.1-28.2(chr4:127371061-127994046)x1 GRCh37: Chr4:128292216-128915201 GRCh38: Chr4:127371061-127994046	PLK4, HSPA4L, INTU, ABHD18, SLC25A31, MFSD8	See cases	Uncertain significance (Apr 14, 2011)	no assertion criteria provided
Select item 23664010.	NM_000038.5(APC):c.7109G>T (p.Gly2370Val) GRCh37: Chr5:112178400 GRCh38: Chr5:112842703	APC	Retinoblastoma, Familial adenomatous polyposis 1, not specified, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Mar 2, 2018)	criteria provided, conflicting interpretations
Select item 62061511.	NM_000077.4(CDKN2A):c.392G>A (p.Arg131His) GRCh37: Chr9:21970966 GRCh38: Chr9:21970967	CDKN2A	Retinoblastoma	Uncertain significance (Sep 26, 2016)	criteria provided, single submitter
Select item 13510712.	NM_000264.4(PTCH1):c.4303G>A (p.Val1435Met) GRCh37: Chr9:98209235 GRCh38: Chr9:95446953	PTCH1	Retinoblastoma, not specified	Uncertain significance (Mar 11, 2016)	criteria provided, single submitter
Select item 62062013.	NM_000264.4(PTCH1):c.1028T>C (p.Val343Ala) GRCh37: Chr9:98242290 GRCh38: Chr9:95480008	PTCH1	Retinoblastoma	Uncertain significance (Sep 26, 2016)	criteria provided, single submitter
Select item 62061714.	NM_000264.4(PTCH1):c.209C>T (p.Ala70Val) GRCh37: Chr9:98268874 GRCh38: Chr9:95506592	PTCH1	Retinoblastoma	Uncertain significance (Mar 7, 2017)	criteria provided, single submitter
Select item 44152415.	NM_000059.3(BRCA2):c.562G>A (p.Val188Met) GRCh37: Chr13:32900681 GRCh38: Chr13:32326544	BRCA2	Retinoblastoma, Hereditary breast and ovarian cancer syndrome, not provided, Hereditary cancer-predisposing syndrome	Uncertain significance (Jul 2, 2018)	criteria provided, multiple submitters, no conflicts
Select item 3820016.	NM_000059.3(BRCA2):c.8972G>A (p.Arg2991His) GRCh37: Chr13:32953905 GRCh38: Chr13:32379768	BRCA2	Breast-ovarian cancer, familial 2, Retinoblastoma, Hereditary breast and ovarian cancer syndrome, not specified, not provided, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Feb 15, 2018)	criteria provided, conflicting interpretations
Select item 12724117.	NM_000059.3(BRCA2):c.9152delC (p.Pro3051Hisfs) GRCh37: Chr13:32954178 GRCh38: Chr13:32380041	BRCA2	Breast-ovarian cancer, familial 2, Ateleiotic dwarfism	Pathogenic (Sep 8, 2016)	reviewed by expert panel
Select item 1308618.	NM_000321.2(RB1):c.-198G>A GRCh37: Chr13:48877851 GRCh38: Chr13:48303715	RB1	Retinoblastoma, Hereditary cancer-predisposing syndrome	Pathogenic (Jun 5, 2017)	criteria provided, single submitter
Select item 1308519.	NM_000321.2(RB1):c.-189G>T GRCh37: Chr13:48877860 GRCh38: Chr13:48303724	RB1	Retinoblastoma	Pathogenic (Sep 5, 1991)	no assertion criteria provided
Select item 31227820.	NM_000321.2(RB1):c.-156C>A GRCh37: Chr13:48877893 GRCh38: Chr13:48303757	RB1	Retinoblastoma	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31227921.	NM_000321.2(RB1):c.-153G>T GRCh37: Chr13:48877896 GRCh38: Chr13:48303760	RB1	Retinoblastoma	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31228022.	NM_000321.2(RB1):c.-81G>A GRCh37: Chr13:48877968 GRCh38: Chr13:48303832	RB1	Retinoblastoma	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31228123.	NM_000321.2(RB1):c.-69G>C GRCh37: Chr13:48877980 GRCh38: Chr13:48303844	RB1	Retinoblastoma	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 52792424.	NM_000321.2(RB1):c.13A>C (p.Thr5Pro) GRCh37: Chr13:48878061 GRCh38: Chr13:48303925	RB1	Retinoblastoma	Uncertain significance (Dec 21, 2017)	criteria provided, single submitter
Select item 28556025.	NM_000321.2(RB1):c.16C>T (p.Pro6Ser) GRCh37: Chr13:48878064 GRCh38: Chr13:48303928	RB1	Retinoblastoma, not provided	Uncertain significance (Jun 25, 2018)	criteria provided, multiple submitters, no conflicts
Select item 45816426.	NM_000321.2(RB1):c.30C>G (p.Ala10=) GRCh37: Chr13:48878078 GRCh38: Chr13:48303942	RB1	Retinoblastoma	Likely benign (Jul 17, 2017)	criteria provided, single submitter
Select item 41648827.	NM_000321.2(RB1):c.30C>T (p.Ala10=) GRCh37: Chr13:48878078 GRCh38: Chr13:48303942	RB1	Retinoblastoma	Likely benign (Jun 23, 2017)	criteria provided, single submitter
Select item 12681628.	NM_000321.2(RB1):c.31G>T (p.Ala11Ser) GRCh37: Chr13:48878079 GRCh38: Chr13:48303943	RB1	Retinoblastoma	Uncertain significance (Sep 16, 2013)	no assertion criteria provided
Select item 52792729.	NM_000321.2(RB1):c.32C>G (p.Ala11Gly) GRCh37: Chr13:48878080 GRCh38: Chr13:48303944	RB1	Retinoblastoma	Uncertain significance (Nov 2, 2017)	criteria provided, single submitter
Select item 58027530.	NM_000321.2(RB1):c.34A>T (p.Thr12Ser) GRCh37: Chr13:48878082 GRCh38: Chr13:48303946	RB1	Retinoblastoma	Uncertain significance (Mar 7, 2018)	criteria provided, single submitter
Select item 41093331.	NM_000321.2(RB1):c.34_42delACCGCCGCC (p.Thr12_Ala14del) GRCh37: Chr13:48878082-48878090 GRCh38: Chr13:48303946-48303954	RB1	Retinoblastoma	Uncertain significance (Sep 5, 2017)	criteria provided, single submitter
Select item 58094532.	NM_000321.2(RB1):c.36delC (p.Ala13Profs) GRCh37: Chr13:48878084 GRCh38: Chr13:48303948	RB1	Retinoblastoma	Pathogenic (Jun 4, 2018)	criteria provided, single submitter
Select item 41095133.	NM_000321.2(RB1):c.37_65del29 (p.Ala13Thrfs) GRCh37: Chr13:48878085-48878113 GRCh38: Chr13:48303949-48303977	RB1	Retinoblastoma	Pathogenic (May 25, 2018)	criteria provided, single submitter
Select item 23767334.	NM_000321.2(RB1):c.42C>T (p.Ala14=) GRCh37: Chr13:48878090 GRCh38: Chr13:48303954	RB1	Retinoblastoma, not specified, Hereditary cancer-predisposing syndrome	Benign/Likely benign (Jan 9, 2018)	criteria provided, multiple submitters, no conflicts
Select item 1309535.	NM_000321.2(RB1):c.43_65dup (p.Pro23Leufs) GRCh37: Chr13:48878091-48878113 GRCh38: Chr13:48303955-48303977	RB1	Retinoblastoma	Pathogenic (Feb 1, 2007)	no assertion criteria provided
Select item 57177736.	NM_000321.2(RB1):c.44C>G (p.Ala15Gly) GRCh37: Chr13:48878092 GRCh38: Chr13:48303956	RB1	Retinoblastoma	Uncertain significance (Feb 14, 2018)	criteria provided, single submitter
Select item 56759137.	NM_000321.2(RB1):c.45_70dup (p.Pro24Leufs) GRCh37: Chr13:48878093-48878118 GRCh38: Chr13:48303957-48303982	RB1	Retinoblastoma	Pathogenic (Apr 27, 2018)	criteria provided, single submitter
Select item 19308238.	NM_000321.2(RB1):c.45_53delTGCCGCCGC (p.Ala16_Ala18del) GRCh37: Chr13:48878093-48878101 GRCh38: Chr13:48303957-48303965	RB1	Retinoblastoma, not specified, Hereditary cancer-predisposing syndrome	Benign (Jan 10, 2018)	criteria provided, multiple submitters, no conflicts
Select item 23767439.	NM_000321.2(RB1):c.52G>T (p.Ala18Ser) GRCh37: Chr13:48878100 GRCh38: Chr13:48303964	RB1	Retinoblastoma, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Nov 13, 2017)	criteria provided, conflicting interpretations
Select item 45817140.	NM_000321.2(RB1):c.54_73dup (p.Pro25Argfs) GRCh37: Chr13:48878102-48878121 GRCh38: Chr13:48303966-48303985	RB1	Retinoblastoma	Pathogenic (Jun 13, 2017)	criteria provided, single submitter
Select item 42866841.	NM_000321.2(RB1):c.54_76dup (p.Pro26Argfs) GRCh37: Chr13:48878102-48878124 GRCh38: Chr13:48303966-48303988	RB1	Retinoblastoma, Hereditary cancer-predisposing syndrome	Pathogenic (Jun 21, 2018)	criteria provided, multiple submitters, no conflicts
Select item 16756442.	NM_000321.2(RB1):c.54_79del26 (p.Glu19Profs) GRCh37: Chr13:48878102-48878127 GRCh38: Chr13:48303966-48303991	RB1	Retinoblastoma	Pathogenic (Mar 19, 2014)	criteria provided, single submitter
Select item 13511543.	NM_000321.2(RB1):c.59C>T (p.Pro20Leu) GRCh37: Chr13:48878107 GRCh38: Chr13:48303971	RB1	Retinoblastoma, not specified, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Jul 2, 2018)	criteria provided, conflicting interpretations
Select item 57622344.	NM_000321.2(RB1):c.62C>T (p.Pro21Leu) GRCh37: Chr13:48878110 GRCh38: Chr13:48303974	RB1	Retinoblastoma	Uncertain significance (Jul 2, 2018)	criteria provided, single submitter
Select item 41649245.	NM_000321.2(RB1):c.66A>G (p.Ala22=) GRCh37: Chr13:48878114 GRCh38: Chr13:48303978	RB1	Retinoblastoma	Likely benign (Oct 8, 2016)	criteria provided, single submitter
Select item 41649146.	NM_000321.2(RB1):c.66A>C (p.Ala22=) GRCh37: Chr13:48878114 GRCh38: Chr13:48303978	RB1	Retinoblastoma	Likely benign (Nov 10, 2016)	criteria provided, single submitter
Select item 52790147.	NM_000321.2(RB1):c.78_83dup (p.Pro29_Glu30insProPro) GRCh37: Chr13:48878126-48878131 GRCh38: Chr13:48303990-48303995	RB1	Retinoblastoma	Uncertain significance (Sep 18, 2017)	criteria provided, single submitter
Select item 41094948.	NM_000321.2(RB1):c.78_80delGCC (p.Pro29del) GRCh37: Chr13:48878126-48878128 GRCh38: Chr13:48303990-48303992	RB1	Retinoblastoma, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Aug 23, 2017)	criteria provided, conflicting interpretations
Select item 45818449.	NM_000321.2(RB1):c.81C>G (p.Pro27=) GRCh37: Chr13:48878129 GRCh38: Chr13:48303993	RB1	Retinoblastoma	Likely benign (Aug 11, 2017)	criteria provided, single submitter
Select item 58056450.	NM_000321.2(RB1):c.83delC (p.Pro28Leufs) GRCh37: Chr13:48878131 GRCh38: Chr13:48303995	RB1	Retinoblastoma	Pathogenic (Jun 8, 2018)	criteria provided, single submitter
Select item 56829751.	NM_000321.2(RB1):c.83C>T (p.Pro28Leu) GRCh37: Chr13:48878131 GRCh38: Chr13:48303995	RB1	Retinoblastoma	Uncertain significance (Apr 9, 2018)	criteria provided, single submitter
Select item 41094352.	NM_000321.2(RB1):c.83C>G (p.Pro28Arg) GRCh37: Chr13:48878131 GRCh38: Chr13:48303995	RB1	Retinoblastoma	Uncertain significance (May 8, 2017)	criteria provided, single submitter
Select item 59084553.	NM_000321.2(RB1):c.92dup (p.Asp32Glyfs) GRCh37: Chr13:48878140 GRCh38: Chr13:48304004	RB1	Retinoblastoma	Pathogenic (Aug 5, 2016)	criteria provided, single submitter
Select item 57212854.	NM_000321.2(RB1):c.98C>T (p.Pro33Leu) GRCh37: Chr13:48878146 GRCh38: Chr13:48304010	RB1	Retinoblastoma	Uncertain significance (May 7, 2018)	criteria provided, single submitter
Select item 12681855.	NM_000321.2(RB1):c.103C>T (p.Gln35Ter) GRCh37: Chr13:48878151 GRCh38: Chr13:48304015	RB1	Retinoblastoma	Pathogenic (Sep 16, 2013)	no assertion criteria provided
Select item 57702956.	NM_000321.2(RB1):c.104A>T (p.Gln35Leu) GRCh37: Chr13:48878152 GRCh38: Chr13:48304016	RB1	Retinoblastoma	Uncertain significance (Apr 13, 2018)	criteria provided, single submitter
Select item 45811357.	NM_000321.2(RB1):c.106G>A (p.Asp36Asn) GRCh37: Chr13:48878154 GRCh38: Chr13:48304018	RB1	Retinoblastoma	Uncertain significance (May 18, 2017)	criteria provided, single submitter
Select item 52791958.	NM_000321.2(RB1):c.109A>G (p.Ser37Gly) GRCh37: Chr13:48878157 GRCh38: Chr13:48304021	RB1	Retinoblastoma	Uncertain significance (Jun 13, 2018)	criteria provided, single submitter
Select item 52790259.	NM_000321.2(RB1):c.109A>C (p.Ser37Arg) GRCh37: Chr13:48878157 GRCh38: Chr13:48304021	RB1	Retinoblastoma	Uncertain significance (Nov 1, 2017)	criteria provided, single submitter
Select item 41093060.	NM_000321.2(RB1):c.113G>A (p.Gly38Asp) GRCh37: Chr13:48878161 GRCh38: Chr13:48304025	RB1	Retinoblastoma, Hereditary cancer-predisposing syndrome	Benign/Likely benign (Dec 22, 2017)	criteria provided, multiple submitters, no conflicts
Select item 12681961.	NM_000321.2(RB1):c.113_115delGCCinsCT (p.Gly38Alafs) GRCh37: Chr13:48878161-48878163 GRCh38: Chr13:48304025-48304027	RB1	Retinoblastoma	Pathogenic (Sep 16, 2013)	no assertion criteria provided
Select item 52795162.	NM_000321.2(RB1):c.114C>T (p.Gly38=) GRCh37: Chr13:48878162 GRCh38: Chr13:48304026	RB1	Retinoblastoma	Likely benign (Dec 4, 2017)	criteria provided, single submitter
Select item 52791163.	NM_000321.2(RB1):c.116C>T (p.Pro39Leu) GRCh37: Chr13:48878164 GRCh38: Chr13:48304028	RB1	Retinoblastoma	Uncertain significance (Jan 9, 2018)	criteria provided, single submitter
Select item 57459264.	NM_000321.2(RB1):c.137+6C>T GRCh37: Chr13:48878191 GRCh38: Chr13:48304055	RB1	Retinoblastoma	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 45812265.	NM_000321.2(RB1):c.137+6C>A GRCh37: Chr13:48878191 GRCh38: Chr13:48304055	RB1	Retinoblastoma	Uncertain significance (Jul 12, 2017)	criteria provided, single submitter
Select item 41650466.	NM_000321.2(RB1):c.138-8T>C GRCh37: Chr13:48881408 GRCh38: Chr13:48307272	RB1	Retinoblastoma	Likely benign (Nov 16, 2017)	criteria provided, single submitter
Select item 52794367.	NM_000321.2(RB1):c.138-4G>A GRCh37: Chr13:48881412 GRCh38: Chr13:48307276	RB1	Retinoblastoma	Likely benign (Dec 22, 2017)	criteria provided, single submitter
Select item 41093768.	NM_000321.2(RB1):c.148G>C (p.Glu50Gln) GRCh37: Chr13:48881426 GRCh38: Chr13:48307290	RB1	Retinoblastoma	Uncertain significance (Nov 29, 2016)	criteria provided, single submitter
Select item 56848169.	NM_000321.2(RB1):c.155C>T (p.Thr52Ile) GRCh37: Chr13:48881433 GRCh38: Chr13:48307297	RB1	Retinoblastoma	Uncertain significance (Apr 6, 2018)	criteria provided, single submitter
Select item 13512370.	NM_000321.2(RB1):c.173C>T (p.Thr58Ile) GRCh37: Chr13:48881451 GRCh38: Chr13:48307315	RB1	Retinoblastoma, not specified	Uncertain significance (May 4, 2018)	criteria provided, single submitter
Select item 23766371.	NM_000321.2(RB1):c.180A>G (p.Leu60=) GRCh37: Chr13:48881458 GRCh38: Chr13:48307322	RB1	Retinoblastoma	Likely benign (Sep 27, 2017)	criteria provided, single submitter
Select item 12684372.	NM_000321.2(RB1):c.217delA (p.Arg73Glufs) GRCh37: Chr13:48881495 GRCh38: Chr13:48307359	RB1	Retinoblastoma	Pathogenic (Sep 16, 2013)	no assertion criteria provided
Select item 12684473.	NM_000321.2(RB1):c.219_220delAG (p.Arg73Serfs) GRCh37: Chr13:48881497-48881498 GRCh38: Chr13:48307361-48307362	RB1	Retinoblastoma, Hereditary cancer-predisposing syndrome	Pathogenic (Apr 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 45814174.	NM_000321.2(RB1):c.221C>G (p.Ala74Gly) GRCh37: Chr13:48881499 GRCh38: Chr13:48307363	RB1	Retinoblastoma	Uncertain significance (Feb 21, 2017)	criteria provided, single submitter
Select item 12684575.	NM_000321.2(RB1):c.227_228dup (p.Thr77Terfs) GRCh37: Chr13:48881505-48881506 GRCh38: Chr13:48307369-48307370	RB1	Retinoblastoma	Pathogenic (Sep 16, 2013)	no assertion criteria provided
Select item 41094676.	NM_000321.2(RB1):c.235G>C (p.Glu79Gln) GRCh37: Chr13:48881513 GRCh38: Chr13:48307377	RB1	Retinoblastoma	Uncertain significance (Dec 15, 2016)	criteria provided, single submitter
Select item 41092577.	NM_000321.2(RB1):c.238A>G (p.Lys80Glu) GRCh37: Chr13:48881516 GRCh38: Chr13:48307380	RB1	Retinoblastoma	Uncertain significance (Nov 11, 2016)	criteria provided, single submitter
Select item 52790378.	NM_000321.2(RB1):c.263T>G (p.Leu88Trp) GRCh37: Chr13:48881541 GRCh38: Chr13:48307405	RB1	Retinoblastoma	Uncertain significance (Aug 14, 2017)	criteria provided, single submitter
Select item 45815679.	NM_000321.2(RB1):c.265-6_265-4delTCC GRCh37: Chr13:48916729-48916731 GRCh38: Chr13:48342593-48342595	RB1	Retinoblastoma	Uncertain significance (Apr 9, 2017)	criteria provided, single submitter
Select item 45815880.	NM_000321.2(RB1):c.269G>T (p.Gly90Val) GRCh37: Chr13:48916739 GRCh38: Chr13:48342603	RB1	Osteosarcoma, Bladder cancer, somatic, Small cell lung cancer, Retinoblastoma	Uncertain significance (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 45816081.	NM_000321.2(RB1):c.273T>C (p.Tyr91=) GRCh37: Chr13:48916743 GRCh38: Chr13:48342607	RB1	Retinoblastoma	Likely benign (Sep 17, 2017)	criteria provided, single submitter
Select item 45816282.	NM_000321.2(RB1):c.276T>G (p.Ile92Met) GRCh37: Chr13:48916746 GRCh38: Chr13:48342610	RB1	Osteosarcoma, Bladder cancer, somatic, Small cell lung cancer, Retinoblastoma	Uncertain significance (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 52790683.	NM_000321.2(RB1):c.283A>T (p.Lys95Ter) GRCh37: Chr13:48916753 GRCh38: Chr13:48342617	RB1	Retinoblastoma	Pathogenic (Dec 27, 2017)	criteria provided, single submitter
Select item 45816384.	NM_000321.2(RB1):c.285A>G (p.Lys95=) GRCh37: Chr13:48916755 GRCh38: Chr13:48342619	RB1	Retinoblastoma	Likely benign (May 26, 2017)	criteria provided, single submitter
Select item 58026285.	NM_000321.2(RB1):c.297_298insA (p.Gly100Argfs) GRCh37: Chr13:48916767-48916768 GRCh38: Chr13:48342631-48342632	RB1	Retinoblastoma	Pathogenic (Apr 24, 2018)	criteria provided, single submitter
Select item 31228286.	NM_000321.2(RB1):c.299G>C (p.Gly100Ala) GRCh37: Chr13:48916769 GRCh38: Chr13:48342633	RB1	Retinoblastoma	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 52792287.	NM_000321.2(RB1):c.301A>G (p.Ile101Val) GRCh37: Chr13:48916771 GRCh38: Chr13:48342635	RB1	Retinoblastoma	Uncertain significance (Oct 31, 2017)	criteria provided, single submitter
Select item 12680988.	NM_000321.2(RB1):c.305_306delGT (p.Cys102Tyrfs) GRCh37: Chr13:48916775-48916776 GRCh38: Chr13:48342639-48342640	RB1	Retinoblastoma	Pathogenic (Sep 16, 2013)	no assertion criteria provided
Select item 52790789.	NM_000321.2(RB1):c.341C>T (p.Ser114Leu) GRCh37: Chr13:48916811 GRCh38: Chr13:48342675	RB1	Retinoblastoma	Uncertain significance (Aug 31, 2017)	criteria provided, single submitter
Select item 23767290.	NM_000321.2(RB1):c.342G>A (p.Ser114=) GRCh37: Chr13:48916812 GRCh38: Chr13:48342676	RB1	Retinoblastoma	Likely benign (Jun 2, 2017)	criteria provided, single submitter
Select item 45816591.	NM_000321.2(RB1):c.343T>C (p.Phe115Leu) GRCh37: Chr13:48916813 GRCh38: Chr13:48342677	RB1	Retinoblastoma	Uncertain significance (Jul 31, 2017)	criteria provided, single submitter
Select item 45816692.	NM_000321.2(RB1):c.356A>C (p.Glu119Ala) GRCh37: Chr13:48916826 GRCh38: Chr13:48342690	RB1	Retinoblastoma	Uncertain significance (Jan 13, 2017)	criteria provided, single submitter
Select item 45816793.	NM_000321.2(RB1):c.367A>G (p.Asn123Asp) GRCh37: Chr13:48916837 GRCh38: Chr13:48342701	RB1	Retinoblastoma, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Dec 27, 2017)	criteria provided, conflicting interpretations
Select item 57534794.	NM_000321.2(RB1):c.370A>G (p.Ile124Val) GRCh37: Chr13:48916840 GRCh38: Chr13:48342704	RB1	Retinoblastoma	Uncertain significance (Feb 19, 2018)	criteria provided, single submitter
Select item 59084695.	NM_000321.2(RB1):c.371_372delTA (p.Ile124Argfs) GRCh37: Chr13:48916841-48916842 GRCh38: Chr13:48342705-48342706	RB1	Retinoblastoma	Pathogenic (Mar 7, 2017)	criteria provided, single submitter
Select item 28225196.	NM_000321.2(RB1):c.376delA (p.Ile126Serfs) GRCh37: Chr13:48916846 GRCh38: Chr13:48342710	RB1	Retinoblastoma, not provided	Pathogenic (Jun 20, 2017)	criteria provided, multiple submitters, no conflicts
Select item 52790497.	NM_000321.2(RB1):c.380+3A>T GRCh37: Chr13:48916853 GRCh38: Chr13:48342717	RB1	Retinoblastoma	Pathogenic (Jan 4, 2018)	criteria provided, single submitter
Select item 9284498.	NM_000321.2(RB1):c.380+10C>G GRCh37: Chr13:48916860 GRCh38: Chr13:48342724	RB1	Retinoblastoma, not specified	Benign/Likely benign (Jan 16, 2018)	criteria provided, multiple submitters, no conflicts
Select item 9284599.	NM_000321.2(RB1):c.380+12T>C GRCh37: Chr13:48916862 GRCh38: Chr13:48342726	RB1	Retinoblastoma, not specified, not provided	Benign/Likely benign (Dec 27, 2016)	criteria provided, multiple submitters, no conflicts
Select item 590844100.	NM_000321.2(RB1):c.381-1G>A GRCh37: Chr13:48919215 GRCh38: Chr13:48345079	RB1	Retinoblastoma	Pathogenic (Jun 10, 2016)	criteria provided, single submitter

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