23250[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 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 59929	GRCh38/hg38 13q34(chr13:112292922-113636272)x3	ADPRHL1, ATP11A +68 more	Copy number gain	See cases	GPathogenic
Select item 147932	GRCh38/hg38 13q34(chr13:112505944-112884305)x3	ATP11A, ATP11A-AS1 +22 more	Copy number gain	See cases	GBenign
Select item 1527862	NM_015205.3(ATP11A):c.11G>A (p.Ser4Asn)	ATP11A, LOC130010167 (S4N)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 84	GPathogenic
Select item 3131305	NM_015205.3(ATP11A):c.25C>G (p.Leu9Val)	ATP11A, LOC130010167 (L9V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582641	NM_015205.3(ATP11A):c.80A>G (p.Tyr27Cys)	ATP11A (Y27C)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 84	GUncertain significance
Select item 2643965	NM_015205.3(ATP11A):c.108C>T (p.Gly36=)	ATP11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2431697	NM_015205.3(ATP11A):c.110_111delinsTC (p.Ala37Val)	ATP11A (A37V)	Indel (missense variant)	Leukodystrophy, hypomyelinating, 24	GUncertain significance
Select item 2631618	NM_015205.3(ATP11A):c.178_182del (p.Phe60fs)	ATP11A (F60fs)	Deletion (frameshift variant)	ATP11A-related disorder	GUncertain significance
Select item 1686851	NM_015205.3(ATP11A):c.250C>G (p.Gln84Glu)	ATP11A (Q84E)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 24	GPathogenic
Select item 755995	NM_015205.3(ATP11A):c.252+9G>A	ATP11A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 740844	NM_015205.3(ATP11A):c.285A>G (p.Thr95=)	ATP11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710232	NM_015205.3(ATP11A):c.334-6T>A	ATP11A	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2269402	NM_015205.3(ATP11A):c.356A>T (p.His119Leu)	ATP11A (H119L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352878	NM_015205.3(ATP11A):c.394T>C (p.Phe132Leu)	ATP11A (F132L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510374	NM_015205.3(ATP11A):c.406G>A (p.Gly136Ser)	ATP11A (G136S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131315	NM_015205.3(ATP11A):c.407G>A (p.Gly136Asp)	ATP11A (G136D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522945	NM_015205.3(ATP11A):c.418C>T (p.Arg140Trp)	ATP11A (R140W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289553	NM_015205.3(ATP11A):c.421A>C (p.Lys141Gln)	ATP11A (K141Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131316	NM_015205.3(ATP11A):c.431G>A (p.Arg144Gln)	ATP11A (R144Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472311	NM_015205.3(ATP11A):c.497T>C (p.Phe166Ser)	ATP11A (F166S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525590	NM_015205.3(ATP11A):c.541G>A (p.Ala181Thr)	ATP11A (A181T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 749843	NM_015205.3(ATP11A):c.579C>T (p.Tyr193=)	ATP11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3131317	NM_015205.3(ATP11A):c.622G>A (p.Gly208Ser)	ATP11A (G208S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2637848	NM_015205.3(ATP11A):c.673A>G (p.Lys225Glu)	ATP11A (K225E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724686	NM_015205.3(ATP11A):c.738G>A (p.Ser246=)	ATP11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729751	NM_015205.3(ATP11A):c.807G>A (p.Thr269=)	ATP11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734832	NM_015205.3(ATP11A):c.828A>G (p.Ala276=)	ATP11A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3064019	NM_015205.3(ATP11A):c.914T>A (p.Ile305Asn)	ATP11A (I305N)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 84	GUncertain significance
Select item 2392162	NM_015205.3(ATP11A):c.917G>A (p.Ser306Asn)	ATP11A (S306N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 741087	NM_015205.3(ATP11A):c.1005G>A (p.Ser335=)	ATP11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3131289	NM_015205.3(ATP11A):c.1015A>T (p.Arg339Trp)	ATP11A (R339W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457755	NM_015205.3(ATP11A):c.1040C>T (p.Thr347Met)	ATP11A (T347M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557668	NM_015205.3(ATP11A):c.1042G>A (p.Asp348Asn)	ATP11A (D348N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557996	NM_015205.3(ATP11A):c.1068T>G (p.Phe356Leu)	ATP11A (F356L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776905	NM_015205.3(ATP11A):c.1104C>T (p.Val368=)	ATP11A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2254732	NM_015205.3(ATP11A):c.1111C>G (p.Gln371Glu)	ATP11A (Q371E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3029341	NM_015205.3(ATP11A):c.1122C>T (p.Leu374=)	ATP11A	Single nucleotide variant (synonymous variant)	ATP11A-related disorder	GLikely benign
Select item 2643966	NM_015205.3(ATP11A):c.1150G>A (p.Asp384Asn)	ATP11A (D384N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3131290	NM_015205.3(ATP11A):c.1177G>T (p.Gly393Trp)	ATP11A (G393W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239056	NM_015205.3(ATP11A):c.1288T>A (p.Cys430Ser)	ATP11A (C430S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3327635	NM_015205.3(ATP11A):c.1307A>G (p.Tyr436Cys)	ATP11A (Y436C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602318	NM_015205.3(ATP11A):c.1309G>A (p.Val437Met)	ATP11A (V437M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 709291	NM_015205.3(ATP11A):c.1347G>A (p.Glu449=)	ATP11A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2630479	NM_015205.3(ATP11A):c.1372_1373delinsCT (p.Ser458Leu)	ATP11A (S458L)	Indel (missense variant)	ATP11A-related disorder	GUncertain significance
Select item 2394627	NM_015205.3(ATP11A):c.1384G>A (p.Val462Ile)	ATP11A (V462I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459597	NM_015205.3(ATP11A):c.1399C>T (p.Arg467Cys)	ATP11A (R467C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131291	NM_015205.3(ATP11A):c.1400G>A (p.Arg467His)	ATP11A (R467H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 725683	NM_015205.3(ATP11A):c.1418G>A (p.Arg473Gln)	ATP11A (R473Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2616216	NM_015205.3(ATP11A):c.1465G>A (p.Val489Ile)	ATP11A (V489I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131292	NM_015205.3(ATP11A):c.1487C>T (p.Pro496Leu)	ATP11A (P496L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219235	NM_015205.3(ATP11A):c.1492G>A (p.Gly498Arg)	ATP11A (G498R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455835	NM_015205.3(ATP11A):c.1499A>T (p.Lys500Ile)	ATP11A (K500I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 721191	NM_015205.3(ATP11A):c.1508T>G (p.Val503Gly)	ATP11A (V503G)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2279968	NM_015205.3(ATP11A):c.1523C>T (p.Ser508Leu)	ATP11A (S508L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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