820[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 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 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 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	LOC124946344, LOC124946345 +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	LOC130010101, LOC130010102 +705 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	ABCC4, ABHD13 +663 more	Copy number gain	See cases	GPathogenic
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	ABCC4, ABHD13 +638 more	Copy number gain	See cases	GPathogenic
Select item 150277	GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3	DOCK9-DT, EFNB2 +544 more	Copy number gain	See cases	GPathogenic
Select item 59921	GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3	ABHD13, ADPRHL1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59924	GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	LOC132090158, LOC132090159 +395 more	Copy number gain	See cases	GPathogenic
Select item 57684	GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1	ABHD13, ADPRHL1 +369 more	Copy number loss	See cases	GPathogenic
Select item 152824	GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3	LOC130010172, LOC130010173 +367 more	Copy number gain	See cases	GPathogenic
Select item 147642	GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3	ABHD13, ADPRHL1 +360 more	Copy number gain	See cases	GPathogenic
Select item 57685	GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1	GAS6-AS1, GAS6-DT +363 more	Copy number loss	See cases	GPathogenic
Select item 148757	GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1	LOC121468007, LOC121838584 +339 more	Copy number loss	See cases	GPathogenic
Select item 57709	GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 57710	GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 155263	GRCh38/hg38 13q33.2-34(chr13:104968135-114340331)x1	ABHD13, ADPRHL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 155489	GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3	ABHD13, ADPRHL1 +325 more	Copy number gain	See cases	GUncertain significance
Select item 151756	GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1	LOC116268457, LOC121468007 +321 more	Copy number loss	See cases	GPathogenic
Select item 57471	GRCh38/hg38 13q33.2-34(chr13:106157165-114327173)x1	ABHD13, ADPRHL1 +318 more	Copy number loss	See cases	GPathogenic
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010165, LOC130010166 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 148614	GRCh38/hg38 13q33.3-34(chr13:107075477-114340331)x1	ABHD13, ADPRHL1 +302 more	Copy number loss	See cases	GPathogenic
Select item 161056	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 33799	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 56998	GRCh38/hg38 13q33.3-34(chr13:108743171-114327173)x1	ADPRHL1, ANKRD10 +271 more	Copy number loss	See cases	GPathogenic
Select item 1338738	NC_000013.11:g.109179481_114327244del	LOC130010213, LOC130010214 +261 more	Deletion	Factor VII deficiency +1 more	GPathogenic
Select item 155035	GRCh38/hg38 13q34(chr13:110857896-114342258)x1	ADPRHL1, ANKRD10 +179 more	Copy number loss	See cases	GPathogenic
Select item 148303	GRCh38/hg38 13q34(chr13:111118651-114340331)x3	MCF2L, MCF2L-AS1 +158 more	Copy number gain	See cases	GLikely pathogenic
Select item 152704	GRCh38/hg38 13q34(chr13:111200986-114340331)x1	ADPRHL1, ARHGEF7 +149 more	Copy number loss	See cases	GPathogenic
Select item 148895	GRCh38/hg38 13q34(chr13:111355741-114340331)x1	ADPRHL1, ATP11A +143 more	Copy number loss	See cases	GPathogenic
Select item 59927	GRCh38/hg38 13q34(chr13:111439396-114327173)x3	ADPRHL1, ATP11A +141 more	Copy number gain	See cases	GPathogenic
Select item 57714	GRCh38/hg38 13q34(chr13:111541166-113671678)x1	ADPRHL1, ATP11A +83 more	Copy number loss	See cases	GPathogenic
Select item 58283	GRCh38/hg38 13q34(chr13:113328389-113671476)x3	ADPRHL1, ATP4B +17 more	Copy number gain	See cases	GUncertain significance
Select item 2388297	NM_000705.4(ATP4B):c.865A>T (p.Ile289Phe)	ATP4B, GRK1 (I289F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131648	NM_000705.4(ATP4B):c.857A>G (p.Lys286Arg)	ATP4B, GRK1 (K286R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278550	NM_000705.4(ATP4B):c.808G>A (p.Val270Met)	ATP4B, GRK1 (V270M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131647	NM_000705.4(ATP4B):c.807C>A (p.His269Gln)	ATP4B, GRK1 (H269Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359801	NM_000705.4(ATP4B):c.778G>A (p.Ala260Thr)	ATP4B, GRK1 (A260T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546257	NM_000705.4(ATP4B):c.769G>A (p.Ala257Thr)	ATP4B, GRK1 (A257T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3329225	NM_000705.4(ATP4B):c.712C>G (p.Gln238Glu)	ATP4B, GRK1 (Q238E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329220	NM_000705.4(ATP4B):c.667G>A (p.Gly223Ser)	ATP4B, GRK1 (G223S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347511	NM_000705.4(ATP4B):c.662C>G (p.Pro221Arg)	ATP4B, GRK1 (P221R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465374	NM_000705.4(ATP4B):c.638C>T (p.Pro213Leu)	ATP4B, GRK1 (P213L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516827	NM_000705.4(ATP4B):c.623G>A (p.Arg208His)	ATP4B, GRK1 (R208H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221771	NM_000705.4(ATP4B):c.604G>A (p.Ala202Thr)	ATP4B, GRK1 (A202T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3131645	NM_000705.4(ATP4B):c.497C>T (p.Ala166Val)	ATP4B, GRK1 (A166V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2615785	NM_000705.4(ATP4B):c.497C>A (p.Ala166Glu)	ATP4B, GRK1 (A166E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458107	NM_000705.4(ATP4B):c.464C>T (p.Thr155Met)	ATP4B, GRK1 (T155M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544527	NM_000705.4(ATP4B):c.424T>G (p.Phe142Val)	ATP4B, GRK1 (F142V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329210	NM_000705.4(ATP4B):c.362C>T (p.Ser121Phe)	ATP4B, GRK1 (S121F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329226	NM_000705.4(ATP4B):c.248C>A (p.Thr83Asn)	ATP4B, GRK1 (T83N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131644	NM_000705.4(ATP4B):c.232C>T (p.Arg78Trp)	ATP4B, GRK1 (R78W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210175	NM_000705.4(ATP4B):c.220C>G (p.Gln74Glu)	ATP4B, GRK1 (Q74E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131643	NM_000705.4(ATP4B):c.179A>G (p.Tyr60Cys)	ATP4B, GRK1 (Y60C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314547	NM_000705.4(ATP4B):c.178T>C (p.Tyr60His)	ATP4B, GRK1 (Y60H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606349	NM_000705.4(ATP4B):c.139T>C (p.Phe47Leu)	ATP4B, GRK1 (F47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264041	NM_000705.4(ATP4B):c.77C>T (p.Thr26Met)	ATP4B, GRK1 (T26M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329228	NM_000705.4(ATP4B):c.50T>C (p.Phe17Ser)	ATP4B, GRK1 (F17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309392	NM_000705.4(ATP4B):c.37C>A (p.Arg13Ser)	ATP4B, GRK1 (R13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131646	NM_000705.4(ATP4B):c.5C>T (p.Ala2Val)	ATP4B, GRK1 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242333	GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3	ABHD13, ADPRHL1 +66 more	Copy number gain	not provided	GPathogenic
Select item 3148913	GRCh37/hg19 13q34(chr13:112071769-115107733)x3	ADPRHL1, ATP11A +23 more	Copy number gain	not provided	GUncertain significance
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063307	GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1	ABHD13, ADPRHL1 +54 more	Copy number loss	not specified	GPathogenic
Select item 3063302	GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3	ABHD13, ADPRHL1 +39 more	Copy number gain	not specified	GUncertain significance
Select item 3063300	GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1	ABHD13, ADPRHL1 +53 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063291	GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063290	GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063287	GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 3024583	GRCh37/hg19 13q34(chr13:113158346-115091756)x1	ADPRHL1, ATP11A +21 more	Copy number loss	not provided	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ANKRD10, ANKRD10-IT1 +98 more	Copy number loss	not provided	GPathogenic
Select item 2684711	GRCh37/hg19 13q34(chr13:114282014-114568288)x3	ATP4B, GAS6 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	GPR18, GRTP1 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	TBC1D4, TEX29 +129 more	Copy number gain	not provided	GPathogenic
Select item 1809298	GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3	ABHD13, ADPRHL1 +67 more	Copy number gain	not provided	GPathogenic
Select item 1808983	GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1707446	GRCh37/hg19 13q34(chr13:114086431-114753211)x3	ADPRHL1, ATP4B +7 more	Copy number gain	See cases	GUncertain significance
Select item 1707439	GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3	ABCC4, ABHD13 +93 more	Copy number gain	See cases	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1703542	GRCh37/hg19 13q34(chr13:110428062-115107733)	ADPRHL1, ANKRD10 +35 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 1527798	GRCh37/hg19 13q33.2-34(chr13:106450862-115107733)	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 1527797	GRCh37/hg19 13q33.2-34(chr13:106056749-115107733)	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527796	GRCh37/hg19 13q33.1-34(chr13:104545892-115107733)	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic

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