5925[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LOC130009665, LOC130009659 +612 more	Copy number loss	See cases	GPathogenic
Select item 152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	LOC126861769, LOC126861770 +437 more	Copy number loss	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
Select item 57643	GRCh38/hg38 13q14.11-14.2(chr13:43505396-49983668)x1	LOC126861771, LOC126861772 +215 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	LOC130009879, LOC130009880 +657 more	Copy number loss	See cases	GPathogenic
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	OBI1-AS1, OLFM4 +513 more	Copy number loss	See cases	GPathogenic
Select item 154070	GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1	ALG11, ARL11 +266 more	Copy number loss	See cases	GPathogenic
Select item 2572169	NC_000013.11:g.48194644_48318494del	ITM2B, LOC124885096 +7 more	Deletion	Retinoblastoma	GPathogenic
Select item 3009389	NC_000013.11:g.48303678G>A	RB1, RB1-DT	Single nucleotide variant (non-coding transcript variant)	Retinoblastoma	GUncertain significance
Select item 2889662	NC_000013.11:g.48303679C>G	RB1, RB1-DT	Single nucleotide variant (non-coding transcript variant)	Retinoblastoma	GUncertain significance
Select item 2899769	NC_000013.11:g.48303683_48303684delinsAA	RB1, RB1-DT	Indel (non-coding transcript variant)	Retinoblastoma	GUncertain significance
Select item 2767647	NC_000013.11:g.48303685C>G	RB1, RB1-DT	Single nucleotide variant (non-coding transcript variant)	Retinoblastoma	GUncertain significance
Select item 2884698	NC_000013.11:g.48303690G>C	RB1, RB1-DT	Single nucleotide variant (non-coding transcript variant)	Retinoblastoma	GUncertain significance
Select item 2443575	NM_000321.2(RB1):c.-221_-199del23	RB1, RB1-DT	Deletion	not provided +2 more	GUncertain significance
Select item 2805716	NC_000013.11:g.48303691C>A	RB1, RB1-DT	Single nucleotide variant (non-coding transcript variant)	Retinoblastoma	GUncertain significance
Select item 3350889	NC_000013.11:g.48303695G>A	RB1, RB1-DT	Single nucleotide variant (non-coding transcript variant)	RB1-related disorder	GLikely benign
Select item 995907	NM_000321.3(RB1):c.-206_-189del	RB1, RB1-DT	Deletion	Retinoblastoma	GLikely pathogenic
Select item 1311508	NC_000013.11:g.48303704A>G	RB1	Single nucleotide variant	not provided	GUncertain significance
Select item 2727747	NC_000013.11:g.48303711G>A	RB1	Single nucleotide variant	Retinoblastoma +2 more	GUncertain significance
Select item 2878977	NC_000013.11:g.48303712G>T	RB1	Single nucleotide variant	Retinoblastoma	GUncertain significance
Select item 1066897	NC_000013.11:g.48303714_48303721del	RB1	Deletion	Retinoblastoma	GLikely pathogenic
Select item 3074627	NC_000013.11:g.48303714C>T	RB1	Single nucleotide variant	Retinoblastoma	GUncertain significance
Select item 3237119	NM_000321.3(RB1):c.-198_-189delinsAA	RB1	Indel	Retinoblastoma	GLikely pathogenic
Select item 13086	NM_000321.3(RB1):c.-198G>A	RB1	Single nucleotide variant	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 3237097	NM_000321.3(RB1):c.-197G>T	RB1	Single nucleotide variant	Retinoblastoma	GLikely pathogenic
Select item 3237041	NM_000321.3(RB1):c.-197G>A	RB1	Single nucleotide variant	Retinoblastoma	GLikely pathogenic
Select item 3236979	NM_000321.3(RB1):c.-197G>C	RB1	Single nucleotide variant	Retinoblastoma	GLikely pathogenic
Select item 13085	NM_000321.3(RB1):c.-189G>T	RB1	Single nucleotide variant	Retinoblastoma	GLikely pathogenic
Select item 2875377	NC_000013.11:g.48303740A>T	RB1	Single nucleotide variant	Retinoblastoma	GUncertain significance
Select item 3013144	NC_000013.11:g.48303741C>T	RB1	Single nucleotide variant	Retinoblastoma	GUncertain significance
Select item 2912983	NC_000013.11:g.48303742G>A	RB1	Single nucleotide variant	Retinoblastoma	GUncertain significance
Select item 2754025	NC_000013.11:g.48303745G>A	RB1	Single nucleotide variant	Retinoblastoma	GUncertain significance
Select item 2858986	NC_000013.11:g.48303748C>T	RB1	Single nucleotide variant	Retinoblastoma	GUncertain significance
Select item 2734315	NM_000321.3(RB1):c.-160T>C	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2915146	NM_000321.3(RB1):c.-158G>A	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2982252	NM_000321.3(RB1):c.-157C>G	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 312278	NM_000321.3(RB1):c.-156C>A	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 882643	NM_000321.3(RB1):c.-155G>C	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2629143	NM_000321.3(RB1):c.-153G>C	RB1	Single nucleotide variant (5 prime UTR variant)	RB1-related disorder	GUncertain significance
Select item 312279	NM_000321.3(RB1):c.-153G>T	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2917985	NM_000321.3(RB1):c.-152C>T	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 3364065	NM_000321.3(RB1):c.-151G>A	RB1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 997629	NM_000321.3(RB1):c.-149G>T	RB1	Single nucleotide variant (5 prime UTR variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2712482	NM_000321.3(RB1):c.-147G>A	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2715626	NM_000321.3(RB1):c.-134G>T	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 3003796	NM_000321.3(RB1):c.-128C>G	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2907279	NM_000321.3(RB1):c.-126C>T	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2983616	NM_000321.3(RB1):c.-125A>T	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2964850	NM_000321.3(RB1):c.-125A>G	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2899770	NM_000321.3(RB1):c.-123G>A	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2801585	NM_000321.3(RB1):c.-121G>A	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 882644	NM_000321.3(RB1):c.-100A>T	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2994302	NM_000321.3(RB1):c.-98G>A	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2999297	NM_000321.3(RB1):c.-85G>C	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2706003	NM_000321.3(RB1):c.-78del	RB1	Deletion (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 312280	NM_000321.3(RB1):c.-81G>A	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2728937	NM_000321.3(RB1):c.-80G>A	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2889857	NM_000321.3(RB1):c.-79G>A	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2713555	NM_000321.3(RB1):c.-76G>T	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2702258	NM_000321.3(RB1):c.-72C>T	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 312281	NM_000321.3(RB1):c.-69G>C	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma +1 more	GConflicting classifications of pathogenicity
Select item 2693858	NM_000321.3(RB1):c.-65T>G	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2722765	NM_000321.3(RB1):c.-48C>T	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GBenign
Select item 2918977	NM_000321.3(RB1):c.-37C>A	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2767260	NM_000321.3(RB1):c.-29C>G	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2960634	NM_000321.3(RB1):c.-15C>T	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2848407	NM_000321.3(RB1):c.-15C>G	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 1319459	NM_000321.3(RB1):c.-11G>A	RB1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 645883	NC_000013.11:g.(?_48303903)_(48307416_?)del	LOC130009755, LOC130009754 +1 more	Deletion	Retinoblastoma	GPathogenic
Select item 583677	NC_000013.11:g.(?_48303903)_(48480081_?)del	LOC130009754, LOC130009755 +2 more	Deletion	Retinoblastoma	GPathogenic
Select item 527953	NC_000013.11:g.(?_48303907)_(48480077_?)del	LOC130009754, LOC130009755 +2 more	Deletion	Retinoblastoma	GPathogenic
Select item 2760811	NM_000321.3(RB1):c.-4C>T	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2692724	NM_000321.3(RB1):c.-2_8del (p.Met1fs)	RB1 (M1fs)	Deletion (frameshift variant +1 more)	Retinoblastoma	GUncertain significance
Select item 1798679	NM_000321.3(RB1):c.-2T>C	RB1	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1798670	NM_000321.3(RB1):c.-2T>A	RB1	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance

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