540[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 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 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 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 58255	GRCh38/hg38 13q14.3(chr13:51717666-52258617)x3	ALG11, ATP7B +35 more	Copy number gain	See cases	GUncertain significance
Select item 312340	NM_000053.4(ATP7B):c.*1901G>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312341	NM_000053.4(ATP7B):c.*1805C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312343	NM_000053.4(ATP7B):c.*1782C>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease +1 more	GBenign
Select item 312342	NM_000053.4(ATP7B):c.*1782del	ATP7B, TMEM272	Deletion (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 881201	NM_000053.4(ATP7B):c.*1773C>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312344	NM_000053.4(ATP7B):c.*1756T>C	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 881668	NM_000053.4(ATP7B):c.*1746C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 881669	NM_000053.4(ATP7B):c.*1744C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease +1 more	GLikely benign
Select item 312345	NM_000053.4(ATP7B):c.*1717G>T	TMEM272, ATP7B	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GBenign
Select item 312346	NM_000053.4(ATP7B):c.*1708A>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease +1 more	GBenign
Select item 312347	NM_000053.4(ATP7B):c.*1659A>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 881670	NM_000053.4(ATP7B):c.*1618G>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312348	NM_000053.4(ATP7B):c.*1592T>C	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312349	NM_000053.4(ATP7B):c.*1558T>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312350	NM_000053.4(ATP7B):c.*1499A>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312351	NM_000053.4(ATP7B):c.*1493T>C	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312352	NM_000053.4(ATP7B):c.*1491A>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 882821	NM_000053.4(ATP7B):c.*1423T>C	TMEM272, ATP7B	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312353	NM_000053.4(ATP7B):c.*1409A>C	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312354	NM_000053.4(ATP7B):c.*1385G>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 882822	NM_000053.4(ATP7B):c.*1286G>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312355	NM_000053.4(ATP7B):c.*1265A>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 883608	NM_000053.4(ATP7B):c.*1240T>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 883609	NM_000053.4(ATP7B):c.*1206G>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312356	NM_000053.4(ATP7B):c.*1182C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GBenign
Select item 312357	NM_000053.4(ATP7B):c.*1172G>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease +1 more	GBenign
Select item 883610	NM_000053.4(ATP7B):c.*1170C>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 883611	NM_000053.4(ATP7B):c.*1128G>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 883612	NM_000053.4(ATP7B):c.*1124C>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 881253	NM_000053.4(ATP7B):c.*1104C>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312358	NM_000053.4(ATP7B):c.*1095C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312359	NM_000053.4(ATP7B):c.*1076A>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312360	NM_000053.4(ATP7B):c.*1036C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 881254	NM_000053.4(ATP7B):c.*1019A>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312361	NM_000053.4(ATP7B):c.*1014A>G	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312362	NM_000053.4(ATP7B):c.*1009G>A	TMEM272, ATP7B	Single nucleotide variant (3 prime UTR variant)	Wilson disease +1 more	GLikely benign
Select item 881711	NM_000053.4(ATP7B):c.*1005G>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312363	NM_000053.4(ATP7B):c.*1005G>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312364	NM_000053.4(ATP7B):c.994_997del	ATP7B, TMEM272	Deletion (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312365	NM_000053.4(ATP7B):c.*963C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 881712	NM_000053.4(ATP7B):c.*920G>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312366	NM_000053.4(ATP7B):c.*870C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312367	NM_000053.4(ATP7B):c.*851T>C	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 881713	NM_000053.4(ATP7B):c.*843C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 881714	NM_000053.4(ATP7B):c.*833A>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312368	NM_000053.4(ATP7B):c.*786T>C	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312369	NM_000053.4(ATP7B):c.*781T>C	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 882860	NM_000053.4(ATP7B):c.*767T>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 882861	NM_000053.4(ATP7B):c.*668C>A	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312370	NM_000053.4(ATP7B):c.*510G>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312371	NM_000053.4(ATP7B):c.*421C>T	ATP7B, TMEM272	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 882862	NM_000053.4(ATP7B):c.*355G>A	ATP7B	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312372	NM_000053.4(ATP7B):c.*221C>A	ATP7B	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312374	NM_000053.4(ATP7B):c.*190C>A	ATP7B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 312373	NM_000053.4(ATP7B):c.*190C>T	ATP7B	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 883654	NM_000053.4(ATP7B):c.*149G>A	ATP7B	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312375	NM_000053.4(ATP7B):c.*148C>T	ATP7B	Single nucleotide variant (3 prime UTR variant)	Wilson disease +1 more	GConflicting classifications of pathogenicity
Select item 883655	NM_000053.4(ATP7B):c.*111G>T	ATP7B	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 312376	NM_000053.4(ATP7B):c.*111G>A	ATP7B	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 883656	NM_000053.4(ATP7B):c.*34G>A	ATP7B	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GUncertain significance
Select item 618541	NM_000053.4(ATP7B):c.*23G>T	ATP7B	Single nucleotide variant (3 prime UTR variant)	Wilson disease	GLikely benign
Select item 35734	NM_000053.4(ATP7B):c.*16G>A	ATP7B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 35733	NM_000053.4(ATP7B):c.*15C>T	ATP7B	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 2137506	NM_000053.4(ATP7B):c.4396T>C (p.Ter1466Arg)	ATP7B	Single nucleotide variant (stop lost)	Wilson disease	GUncertain significance
Select item 456558	NM_000053.4(ATP7B):c.4395C>A (p.Ile1465=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 2911524	NM_000053.4(ATP7B):c.4392C>T (p.Tyr1464=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 1443683	NM_000053.4(ATP7B):c.4391A>C (p.Tyr1464Ser)	ATP7B (Y1386S +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 2415919	NM_000053.4(ATP7B):c.4389G>A (p.Gln1463=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 802992	NM_000053.4(ATP7B):c.4388A>G (p.Gln1463Arg)	ATP7B (Q1379R +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 551139	NM_000053.4(ATP7B):c.4387C>T (p.Gln1463Ter)	ATP7B (Q1463* +4 more)	Single nucleotide variant (nonsense)	Wilson disease	GUncertain significance

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