GPC5[gene] - 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 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	LOC130009879, LOC130009880 +657 more	Copy number loss	See cases	GPathogenic
Select item 147734	GRCh38/hg38 13q22.3-31.3(chr13:77061780-92460406)x1	EDNRB, EDNRB-AS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 57644	GRCh38/hg38 13q22.3-32.1(chr13:78349126-94701844)x1	DCT, GPC5 +121 more	Copy number loss	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 57470	GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3	LOC126861817, LOC126861818 +344 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 148197	GRCh38/hg38 13q31.1-31.3(chr13:84005264-92784013)x1	GPC5, GPC5-AS1 +52 more	Copy number loss	See cases	GLikely pathogenic
Select item 153699	GRCh38/hg38 13q31.1-31.3(chr13:84052824-91838339)x3	GPC5, LINC00333 +47 more	Copy number gain	See cases	GUncertain significance
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 150153	GRCh38/hg38 13q31.2-32.3(chr13:87944479-99866542)x1	LOC130010040, LOC130010041 +236 more	Copy number loss	See cases	GPathogenic
Select item 57678	GRCh38/hg38 13q31.2-32.3(chr13:88323009-98888644)x1	ABCC4, CLDN10 +168 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 57679	GRCh38/hg38 13q31.3-32.1(chr13:89549510-96657834)x1	ABCC4, CLDN10 +88 more	Copy number loss	See cases	GPathogenic
Select item 58175	GRCh38/hg38 13q31.3(chr13:90973752-93097331)x1	GPC5, GPC5-AS1 +18 more	Copy number loss	See cases	GUncertain significance
Select item 2223691	NM_004466.6(GPC5):c.7G>A (p.Ala3Thr)	GPC5 (A3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101258	NM_004466.6(GPC5):c.20C>A (p.Pro7His)	GPC5 (P7H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538036	NM_004466.6(GPC5):c.20C>G (p.Pro7Arg)	GPC5 (P7R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2460054	NM_004466.6(GPC5):c.22G>T (p.Val8Leu)	GPC5 (V8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225998	NM_004466.6(GPC5):c.47T>C (p.Leu16Pro)	GPC5 (L16P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101259	NM_004466.6(GPC5):c.67C>A (p.Arg23Ser)	GPC5 (R23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236725	NM_004466.6(GPC5):c.79G>A (p.Val27Met)	GPC5 (V27M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329867	NM_004466.6(GPC5):c.130G>A (p.Ala44Thr)	GPC5 (A44T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722397	NM_004466.6(GPC5):c.153G>A (p.Ser51=)	GPC5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 146105	GRCh38/hg38 13q31.3(chr13:91413206-91615256)x1	GPC5	Copy number loss	See cases	GBenign
Select item 154499	GRCh38/hg38 13q31.3(chr13:91413406-91615115)x1	GPC5	Copy number loss	See cases	Gconflicting data from submitters
Select item 151277	GRCh38/hg38 13q31.3(chr13:91413406-91625217)x1	GPC5	Copy number loss	See cases	GLikely benign
Select item 2499627	GRCh38/hg38 13q31.3(chr13:91423419-91631346)	GPC5	Copy number loss	See cases	GBenign
Select item 58176	GRCh38/hg38 13q31.3(chr13:91431897-91628212)x1	GPC5	Copy number loss	See cases	GUncertain significance
Select item 152625	GRCh38/hg38 13q31.3(chr13:91441741-91625217)x1	GPC5	Copy number loss	See cases	GLikely benign
Select item 2518027	NM_004466.6(GPC5):c.239C>T (p.Ala80Val)	GPC5 (A80V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402217	NM_004466.6(GPC5):c.272C>T (p.Thr91Met)	GPC5 (T91M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496255	NM_004466.6(GPC5):c.283A>G (p.Thr95Ala)	GPC5 (T95A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2396640	NM_004466.6(GPC5):c.298A>G (p.Ile100Val)	GPC5 (I100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371190	NM_004466.6(GPC5):c.311C>T (p.Ala104Val)	GPC5 (A104V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 145224	GRCh38/hg38 13q31.3(chr13:91521052-91597567)x1	GPC5	Copy number loss	See cases	GBenign/Likely benign
Select item 57040	GRCh38/hg38 13q31.3(chr13:91615056-91879009)x1	GPC5	Copy number loss	See cases	GUncertain significance
Select item 714328	NM_004466.6(GPC5):c.483A>G (p.Glu161=)	GPC5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2272606	NM_004466.6(GPC5):c.520G>C (p.Val174Leu)	GPC5 (V174L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046562	NM_004466.6(GPC5):c.557G>T (p.Ser186Ile)	GPC5 (S186I)	Single nucleotide variant (missense variant)	GPC5-related disorder	GLikely benign
Select item 2403777	NM_004466.6(GPC5):c.566A>G (p.Glu189Gly)	GPC5 (E189G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508171	NM_004466.6(GPC5):c.584G>A (p.Arg195Gln)	GPC5 (R195Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3282129	NM_004466.6(GPC5):c.685C>T (p.Leu229Phe)	GPC5 (L229F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041123	NM_004466.6(GPC5):c.730T>G (p.Phe244Val)	GPC5 (F244V)	Single nucleotide variant (missense variant)	GPC5-related disorder	GLikely benign
Select item 3054299	NM_004466.6(GPC5):c.776C>G (p.Pro259Arg)	GPC5 (P259R)	Single nucleotide variant (missense variant)	GPC5-related disorder	GLikely benign
Select item 3356467	NM_004466.6(GPC5):c.836G>A (p.Arg279Gln)	GPC5 (R279Q)	Single nucleotide variant (missense variant)	GPC5-related disorder	GUncertain significance
Select item 2538420	NM_004466.6(GPC5):c.881C>T (p.Ala294Val)	GPC5 (A294V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315261	NM_004466.6(GPC5):c.881C>G (p.Ala294Gly)	GPC5 (A294G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332103	NM_004466.6(GPC5):c.899A>G (p.Glu300Gly)	GPC5 (E300G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101260	NM_004466.6(GPC5):c.989C>T (p.Ala330Val)	GPC5 (A330V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788447	NM_004466.6(GPC5):c.991C>T (p.His331Tyr)	GPC5 (H331Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2510310	NM_004466.6(GPC5):c.994C>G (p.Leu332Val)	GPC5 (L332V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378093	NM_004466.6(GPC5):c.1040G>A (p.Arg347His)	GPC5 (R347H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3282126	NM_004466.6(GPC5):c.1111A>T (p.Thr371Ser)	GPC5 (T371S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282131	NM_004466.6(GPC5):c.1126A>G (p.Ser376Gly)	GPC5 (S376G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2302826	NM_004466.6(GPC5):c.1148G>A (p.Arg383Lys)	GPC5 (R383K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328289	NM_004466.6(GPC5):c.1151G>T (p.Arg384Ile)	GPC5 (R384I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487886	NM_004466.6(GPC5):c.1259A>T (p.Asn420Ile)	GPC5 (N420I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155478	GRCh38/hg38 13q31.3(chr13:91799693-92057976)x1	GPC5	Copy number loss	See cases	GUncertain significance
Select item 150438	GRCh38/hg38 13q31.3(chr13:91896856-91922860)x1	GPC5	Copy number loss	See cases	GLikely benign
Select item 3282130	NM_004466.6(GPC5):c.1286C>T (p.Thr429Ile)	GPC5 (T429I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609080	NM_004466.6(GPC5):c.1379A>G (p.Asp460Gly)	GPC5 (D460G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274565	NM_004466.6(GPC5):c.1449G>T (p.Gln483His)	GPC5 (Q483H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279377	NM_004466.6(GPC5):c.1451T>C (p.Leu484Pro)	GPC5 (L484P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272155	NM_004466.6(GPC5):c.1466G>A (p.Gly489Asp)	GPC5 (G489D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150270	GRCh38/hg38 13q31.3(chr13:92270151-92288777)x1	GPC5	Copy number loss	See cases	GLikely benign
Select item 148820	GRCh38/hg38 13q31.3(chr13:92695363-93634680)x1	GPC5, GPC5-AS1 +3 more	Copy number loss	See cases	GUncertain significance
Select item 2226079	NM_004466.6(GPC5):c.1591G>A (p.Val531Ile)	GPC5 (V531I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282128	NM_004466.6(GPC5):c.1592T>C (p.Val531Ala)	GPC5 (V531A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556805	NM_004466.6(GPC5):c.1633A>G (p.Thr545Ala)	GPC5 (T545A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101256	NM_004466.6(GPC5):c.1637C>A (p.Thr546Lys)	GPC5 (T546K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270936	NM_004466.6(GPC5):c.1663G>C (p.Glu555Gln)	GPC5 (E555Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517866	NM_004466.6(GPC5):c.1670T>A (p.Met557Lys)	GPC5 (M557K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484211	NM_004466.6(GPC5):c.1678A>G (p.Thr560Ala)	GPC5 (T560A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101257	NM_004466.6(GPC5):c.1679C>T (p.Thr560Ile)	GPC5 (T560I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282127	NM_004466.6(GPC5):c.1697T>A (p.Met566Lys)	GPC5 (M566K)	Single nucleotide variant (missense variant)	not specified	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 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063285	GRCh37/hg19 13q31.3(chr13:92314605-92396512)x1	GPC5	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
Select item 3063280	GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1	ABCC4, ACOD1 +81 more	Copy number loss	not specified	GPathogenic
Select item 3063279	GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1	ABCC4, ACOD1 +102 more	Copy number loss	not specified	GPathogenic
Select item 2685478	GRCh37/hg19 13q31.2-33.2(chr13:89012420-106371634)x1	PCCA, POGLUT2 +50 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 2685473	GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1	ABCC4, ACOD1 +78 more	Copy number loss	not provided	GPathogenic

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