20604[HGNC] - 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 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 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 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 145617	GRCh38/hg38 13q21.2-31.1(chr13:60536344-84553188)x1	ACOD1, ATXN8OS +258 more	Copy number loss	See cases	GPathogenic
Select item 152961	GRCh38/hg38 13q21.31-31.1(chr13:63713365-79638415)x1	ACOD1, ATXN8OS +202 more	Copy number loss	See cases	GPathogenic
Select item 150124	GRCh38/hg38 13q21.31-22.1(chr13:64065900-73693578)x3	ATXN8OS, BORA +70 more	Copy number gain	See cases	GPathogenic
Select item 145515	GRCh38/hg38 13q21.32-31.2(chr13:66320998-87855429)x1	ACOD1, ATXN8OS +232 more	Copy number loss	See cases	GPathogenic
Select item 149578	GRCh38/hg38 13q21.33-31.1(chr13:72681540-79638468)x1	ACOD1, BORA +141 more	Copy number loss	See cases	GPathogenic
Select item 2489778	NM_024808.5(BORA):c.1576T>C (p.Cys526Arg)	BORA, DIS3 (C526R +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2324117	NM_024808.5(BORA):c.1579G>C (p.Glu527Gln)	BORA, DIS3 (E457Q +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2221012	NM_024808.5(BORA):c.1658C>T (p.Pro553Leu)	BORA, DIS3 (P483L +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2481471	NM_024808.5(BORA):c.1664A>T (p.Gln555Leu)	BORA, DIS3 (Q504L +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3134767	NM_024808.5(BORA):c.1672A>G (p.Ser558Gly)	BORA, DIS3 (S558G +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2454762	NM_024808.5(BORA):c.1675C>A (p.Pro559Thr)	BORA, DIS3 (P559T +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1336735	NM_014953.5(DIS3):c.2875T>C (p.Ter959Gln)	DIS3	Single nucleotide variant (stop lost)	not specified +1 more	GLikely benign
Select item 2390656	NM_014953.5(DIS3):c.2866C>T (p.Leu956Phe)	DIS3 (L956F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082549	NM_014953.5(DIS3):c.2819A>G (p.Asp940Gly)	DIS3 (D817G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336306	NM_014953.5(DIS3):c.2783T>C (p.Val928Ala)	DIS3 (V898A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237012	NM_014953.5(DIS3):c.2699T>C (p.Val900Ala)	DIS3 (V900A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272138	NM_014953.5(DIS3):c.2632A>C (p.Lys878Gln)	DIS3 (K755Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382798	NM_014953.5(DIS3):c.2612G>A (p.Gly871Glu)	DIS3 (G709E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272142	NM_014953.5(DIS3):c.2567G>T (p.Arg856Ile)	DIS3 (R826I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260987	NM_014953.5(DIS3):c.2552A>G (p.Tyr851Cys)	DIS3 (Y821C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443114	NM_014953.5(DIS3):c.2533A>G (p.Ile845Val)	DIS3 (I683V +3 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 3082547	NM_014953.5(DIS3):c.2384T>C (p.Ile795Thr)	DIS3 (I633T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 800341	NM_014953.5(DIS3):c.2335A>T (p.Ile779Phe)	DIS3 (I749F +3 more)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 2475961	NM_014953.5(DIS3):c.2249A>G (p.Gln750Arg)	DIS3 (Q627R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082545	NM_014953.5(DIS3):c.2236C>A (p.Arg746Ser)	DIS3 (R623S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292177	NM_014953.5(DIS3):c.2236C>T (p.Arg746Cys)	DIS3 (R746C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1338014	NM_014953.5(DIS3):c.2073T>C (p.His691=)	DIS3	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 3082544	NM_014953.5(DIS3):c.2057C>T (p.Ala686Val)	DIS3 (A563V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054810	NM_014953.5(DIS3):c.1978A>G (p.Asn660Asp)	DIS3 (N498D +3 more)	Single nucleotide variant (missense variant)	DIS3-related disorder	GLikely benign
Select item 2253289	NM_014953.5(DIS3):c.1913G>A (p.Arg638Gln)	DIS3 (R476Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494607	NM_014953.5(DIS3):c.1897T>C (p.Ser633Pro)	DIS3 (S471P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272137	NM_014953.5(DIS3):c.1884G>A (p.Gly628=)	DIS3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 587552	NM_014953.5(DIS3):c.1806G>A (p.Met602Ile)	DIS3 (M602I +3 more)	Single nucleotide variant (missense variant)	Perlman syndrome	GUncertain significance
Select item 1337956	NM_014953.5(DIS3):c.1760C>T (p.Ser587Phe)	DIS3 (S425F +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3082543	NM_014953.5(DIS3):c.1696A>G (p.Met566Val)	DIS3 (M404V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337968	NM_014953.5(DIS3):c.1552G>A (p.Ala518Thr)	DIS3 (A356T +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3272139	NM_014953.5(DIS3):c.1529G>A (p.Ser510Asn)	DIS3 (S480N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492297	NM_014953.5(DIS3):c.1505T>C (p.Val502Ala)	DIS3 (V340A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337977	NM_014953.5(DIS3):c.1503+7A>G	DIS3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1337637	NM_014953.5(DIS3):c.1394A>G (p.Lys465Arg)	DIS3 (K303R +3 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2459057	NM_014953.5(DIS3):c.1228A>G (p.Arg410Gly)	DIS3 (R410G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306739	NM_014953.5(DIS3):c.1211G>A (p.Gly404Asp)	DIS3 (G374D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276081	NM_014953.5(DIS3):c.1204A>G (p.Ile402Val)	DIS3 (I372V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337467	NM_014953.5(DIS3):c.1202C>T (p.Ala401Val)	DIS3 (A239V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2615067	NM_014953.5(DIS3):c.1168G>C (p.Ala390Pro)	DIS3 (A228P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559400	NM_014953.5(DIS3):c.1151G>T (p.Arg384Leu)	DIS3 (R354L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293945	NM_014953.5(DIS3):c.1129G>A (p.Asp377Asn)	DIS3 (D347N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048093	NM_014953.5(DIS3):c.1109G>A (p.Arg370Lys)	DIS3 (R208K +3 more)	Single nucleotide variant (missense variant)	DIS3-related disorder	GLikely benign
Select item 2681235	NM_014953.5(DIS3):c.1083C>T (p.Ser361=)	DIS3	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2401914	NM_014953.5(DIS3):c.1064C>T (p.Pro355Leu)	DIS3 (P193L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272136	NM_014953.5(DIS3):c.1036G>C (p.Val346Leu)	DIS3 (V184L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366370	NM_014953.5(DIS3):c.965A>G (p.Lys322Arg)	DIS3 (K160R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272144	NM_014953.5(DIS3):c.949G>A (p.Glu317Lys)	DIS3 (E194K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082553	NM_014953.5(DIS3):c.910G>A (p.Ala304Thr)	DIS3 (A142T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272145	NM_014953.5(DIS3):c.865G>A (p.Glu289Lys)	DIS3 (E259K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372145	NM_014953.5(DIS3):c.790T>C (p.Trp264Arg)	DIS3 (W102R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082552	NM_014953.5(DIS3):c.757G>A (p.Ala253Thr)	DIS3 (A130T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244437	NM_014953.5(DIS3):c.739C>T (p.Leu247Phe)	DIS3 (L217F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550477	NM_014953.5(DIS3):c.731G>C (p.Gly244Ala)	DIS3 (G214A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082551	NM_014953.5(DIS3):c.691C>T (p.His231Tyr)	DIS3 (H69Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082550	NM_014953.5(DIS3):c.676A>G (p.Ile226Val)	DIS3 (I103V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272140	NM_014953.5(DIS3):c.631C>T (p.Leu211Phe)	DIS3 (L211F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272143	NM_014953.5(DIS3):c.624A>G (p.Ile208Met)	DIS3 (I46M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082548	NM_014953.5(DIS3):c.266T>C (p.Ile89Thr)	DIS3 (I89T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1338045	NM_014953.5(DIS3):c.228+3G>A	DIS3	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2617602	NM_014953.5(DIS3):c.199C>A (p.Leu67Met)	DIS3 (L67M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491548	NM_014953.5(DIS3):c.163C>G (p.Pro55Ala)	DIS3 (P55A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532240	NM_014953.5(DIS3):c.137C>A (p.Pro46Gln)	DIS3 (P46Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3035841	NM_014953.5(DIS3):c.121G>C (p.Gly41Arg)	DIS3 (G41R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2372234	NM_014953.5(DIS3):c.119G>T (p.Gly40Val)	DIS3 (G40V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280235	NM_014953.5(DIS3):c.14A>G (p.Lys5Arg)	DIS3 (K5R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353263	NM_014953.5(DIS3):c.5T>G (p.Leu2Arg)	DIS3 (L2R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 726906	NM_006346.4(PIBF1):c.151A>G (p.Ile51Val)	DIS3, PIBF1 (I51V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 790854	NM_006346.4(PIBF1):c.218T>C (p.Met73Thr)	DIS3, PIBF1 (M73T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 3063308	GRCh37/hg19 13q22.1(chr13:73335021-73482893)x1	DIS3, PIBF1	Copy number loss	not specified	GUncertain significance
Select item 3063284	GRCh37/hg19 13q21.1-31.3(chr13:56450978-93582180)x1	ACOD1, ATXN8OS +49 more	Copy number loss	not specified	GPathogenic

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