10013[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)	GRK1, ATP4B (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 1243596	NC_000013.11:g.113667152G>A	GRK1	Single nucleotide variant	not provided	GBenign
Select item 870441	NM_002929.3(GRK1):c.55C>T (p.Arg19Ter)	GRK1 (R19*)	Single nucleotide variant (nonsense)	Oguchi disease-2	GPathogenic
Select item 638310	NM_002929.3(GRK1):c.92G>A (p.Arg31Gln)	GRK1 (R31Q)	Single nucleotide variant (missense variant)	Oguchi disease	GUncertain significance
Select item 870427	NM_002929.3(GRK1):c.142_145del (p.Glu48fs)	GRK1 (E48fs)	Deletion (frameshift variant)	Oguchi disease-2	GLikely pathogenic
Select item 3102586	NM_002929.3(GRK1):c.142G>C (p.Glu48Gln)	GRK1 (E48Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352391	NM_002929.3(GRK1):c.151C>T (p.Arg51Cys)	GRK1 (R51C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 522307	NM_002929.3(GRK1):c.162C>T (p.Leu54=)	GRK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2227223	NM_002929.3(GRK1):c.178A>C (p.Ser60Arg)	GRK1 (S60R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282838	NM_002929.3(GRK1):c.218A>T (p.Gln73Leu)	GRK1 (Q73L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3034515	NM_002929.3(GRK1):c.234G>A (p.Ser78=)	GRK1	Single nucleotide variant (synonymous variant)	GRK1-related disorder	GLikely benign
Select item 3282839	NM_002929.3(GRK1):c.254C>T (p.Ala85Val)	GRK1 (A85V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3058671	NM_002929.3(GRK1):c.264C>T (p.Leu88=)	GRK1	Single nucleotide variant (synonymous variant)	GRK1-related disorder	GLikely benign
Select item 2237806	NM_002929.3(GRK1):c.289A>C (p.Thr97Pro)	GRK1 (T97P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533287	NM_002929.3(GRK1):c.297C>G (p.Asp99Glu)	GRK1 (D99E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233589	NM_002929.3(GRK1):c.362T>C (p.Leu121Pro)	GRK1 (L121P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354093	NM_002929.3(GRK1):c.368G>A (p.Cys123Tyr)	GRK1 (C123Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228238	NM_002929.3(GRK1):c.395C>T (p.Ala132Val)	GRK1 (A132V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2217593	NM_002929.3(GRK1):c.412C>A (p.Pro138Thr)	GRK1 (P138T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540913	NM_002929.3(GRK1):c.430G>T (p.Gly144Trp)	GRK1 (G144W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102588	NM_002929.3(GRK1):c.431G>C (p.Gly144Ala)	GRK1 (G144A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365979	NM_002929.3(GRK1):c.463G>T (p.Ala155Ser)	GRK1 (A155S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538849	NM_002929.3(GRK1):c.464C>T (p.Ala155Val)	GRK1 (A155V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408765	NM_002929.3(GRK1):c.467A>T (p.His156Leu)	GRK1 (H156L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 870428	NM_002929.3(GRK1):c.470T>C (p.Leu157Pro)	GRK1 (L157P)	Single nucleotide variant (missense variant)	Oguchi disease-2	GLikely pathogenic
Select item 1710125	NM_002929.3(GRK1):c.508_516del (p.Tyr170_Leu172del)	GRK1	Deletion (inframe_deletion)	Oguchi disease-2	GLikely pathogenic
Select item 3282837	NM_002929.3(GRK1):c.556G>C (p.Gly186Arg)	GRK1 (G186R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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