4454[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 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 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 148820	GRCh38/hg38 13q31.3(chr13:92695363-93634680)x1	GPC5, GPC5-AS1 +3 more	Copy number loss	See cases	GUncertain significance
Select item 1257500	NC_000013.11:g.93226778A>G	GPC6	Single nucleotide variant	not provided	GBenign
Select item 312529	NM_005708.5(GPC6):c.-623G>A	GPC6	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive omodysplasia +1 more	GBenign
Select item 881529	NM_005708.5(GPC6):c.-478C>G	GPC6	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312530	NM_005708.5(GPC6):c.-442C>T	GPC6	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312531	NM_005708.5(GPC6):c.-320C>A	GPC6	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 312532	NM_005708.5(GPC6):c.-307T>A	GPC6	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 882693	NM_005708.5(GPC6):c.-248G>A	GPC6	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312533	NM_005708.5(GPC6):c.-137C>T	GPC6	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive omodysplasia	GBenign
Select item 312534	NM_005708.5(GPC6):c.-133G>T	GPC6	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 882694	NM_005708.5(GPC6):c.-113G>A	GPC6	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312535	NM_005708.5(GPC6):c.-100G>A	GPC6	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312536	NM_005708.5(GPC6):c.-69C>T	GPC6	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312537	NM_005708.5(GPC6):c.-23G>T	GPC6	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 282088	NM_005708.5(GPC6):c.10T>A (p.Trp4Arg)	GPC6 (W4R)	Single nucleotide variant (missense variant)	GPC6-related disorder +3 more	GBenign/Likely benign
Select item 1025950	NM_005708.5(GPC6):c.14_15inv (p.Ile5Arg)	GPC6 (I5R)	Inversion (missense variant)	not provided	GUncertain significance
Select item 1358883	NM_005708.5(GPC6):c.20C>A (p.Ala7Asp)	GPC6 (A7D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779855	NM_005708.5(GPC6):c.24G>C (p.Val8=)	GPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1635735	NM_005708.5(GPC6):c.43C>T (p.Leu15=)	GPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3065600	NM_005708.5(GPC6):c.49C>T (p.Leu17Phe)	GPC6 (L17F)	Single nucleotide variant (missense variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 312538	NM_005708.5(GPC6):c.49C>A (p.Leu17Ile)	GPC6 (L17I)	Single nucleotide variant (missense variant)	Autosomal recessive omodysplasia +2 more	GUncertain significance
Select item 3008248	NM_005708.5(GPC6):c.60C>T (p.Pro20=)	GPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175161	NM_005708.5(GPC6):c.64G>C (p.Gly22Arg)	GPC6 (G22R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 716177	NM_005708.5(GPC6):c.64G>A (p.Gly22Arg)	GPC6 (G22R)	Single nucleotide variant (missense variant)	Autosomal recessive omodysplasia +1 more	GBenign
Select item 748696	NM_005708.5(GPC6):c.78G>A (p.Lys26=)	GPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1446156	NM_005708.5(GPC6):c.83G>C (p.Arg28Pro)	GPC6 (R28P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 795808	NM_005708.5(GPC6):c.93A>G (p.Gly31=)	GPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1571244	NM_005708.5(GPC6):c.96G>C (p.Glu32Asp)	GPC6 (E32D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1923138	NM_005708.5(GPC6):c.113G>C (p.Gly38Ala)	GPC6 (G38A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2808245	NM_005708.5(GPC6):c.130C>T (p.Leu44=)	GPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1083673	NM_005708.5(GPC6):c.132G>C (p.Leu44=)	GPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 883472	NM_005708.5(GPC6):c.141C>T (p.Ile47=)	GPC6	Single nucleotide variant (synonymous variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 1642466	NM_005708.5(GPC6):c.160+11G>A	GPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 147510	GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1	ABCC4, ABHD13 +348 more	Copy number loss	See cases	GPathogenic
Select item 58177	GRCh38/hg38 13q31.3(chr13:93345058-93629454)x1	GPC6	Copy number loss	See cases	GUncertain significance
Select item 149800	GRCh38/hg38 13q31.3(chr13:93383656-93538852)x1	GPC6	Copy number loss	See cases	GLikely benign
Select item 1288989	NM_005708.5(GPC6):c.161-300G>A	GPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2960468	NM_005708.5(GPC6):c.161-7A>G	GPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 312539	NM_005708.5(GPC6):c.161-4G>T	GPC6	Single nucleotide variant (intron variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 721940	NM_005708.5(GPC6):c.189A>G (p.Glu63=)	GPC6	Single nucleotide variant (synonymous variant)	GPC6-related disorder +1 more	GBenign/Likely benign
Select item 1529590	NM_005708.5(GPC6):c.192T>C (p.Tyr64=)	GPC6	Single nucleotide variant (synonymous variant)	GPC6-related disorder +1 more	GLikely benign
Select item 740530	NM_005708.5(GPC6):c.195A>G (p.Thr65=)	GPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1422597	NM_005708.5(GPC6):c.203C>G (p.Thr68Ser)	GPC6 (T68S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595635	NM_005708.5(GPC6):c.256C>T (p.Leu86Phe)	GPC6 (L86F)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2228003	NM_005708.5(GPC6):c.269C>T (p.Thr90Ile)	GPC6 (T90I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1982699	NM_005708.5(GPC6):c.283C>T (p.Arg95Cys)	GPC6 (R95C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 883473	NM_005708.5(GPC6):c.284G>A (p.Arg95His)	GPC6 (R95H)	Single nucleotide variant (missense variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 1896278	NM_005708.5(GPC6):c.285C>A (p.Arg95=)	GPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2281511	NM_005708.5(GPC6):c.301A>G (p.Arg101Gly)	GPC6 (R101G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1405041	NM_005708.5(GPC6):c.319G>A (p.Glu107Lys)	GPC6 (E107K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1181403	NM_005708.5(GPC6):c.319+177del	GPC6	Deletion (intron variant)	not provided	GBenign
Select item 57681	GRCh38/hg38 13q31.3-32.1(chr13:93571649-97428965)x1	ABCC4, CLDN10 +73 more	Copy number loss	See cases	GPathogenic
Select item 153008	GRCh38/hg38 13q31.3(chr13:93601411-93624805)x1	GPC6	Copy number loss	See cases	GBenign
Select item 5555	NM_005708.3(GPC6):c.320_711del	GPC6, GPC6-AS2	Deletion	Autosomal recessive omodysplasia	GPathogenic
Select item 1240998	NM_005708.5(GPC6):c.319+61454A>G	GPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244432	NM_005708.5(GPC6):c.319+86315C>G	GPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275981	NM_005708.5(GPC6):c.319+86317G>A	GPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241387	NM_005708.5(GPC6):c.319+86342A>G	GPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236391	NM_005708.5(GPC6):c.319+86545G>T	GPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270856	NM_005708.5(GPC6):c.319+111352A>G	GPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 151246	GRCh38/hg38 13q31.3(chr13:93689856-93770897)x3	GPC6	Copy number gain	See cases	GBenign
Select item 154929	GRCh38/hg38 13q31.3(chr13:93707800-93770810)x1	GPC6	Copy number loss	See cases	GLikely benign
Select item 5554	NM_005708.3(GPC6):c.320_711del	GPC6, GPC6-AS2	Deletion	Autosomal recessive omodysplasia	GPathogenic
Select item 1275224	NM_005708.5(GPC6):c.320-183A>G	GPC6, GPC6-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 288234	NM_005708.5(GPC6):c.320-6C>G	GPC6, GPC6-AS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2054652	NM_005708.5(GPC6):c.320-4G>T	GPC6, GPC6-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989448	NM_005708.5(GPC6):c.329G>A (p.Arg110Gln)	GPC6, GPC6-AS2 (R110Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2328252	NM_005708.5(GPC6):c.331G>A (p.Glu111Lys)	GPC6, GPC6-AS2 (E111K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3101264	NM_005708.5(GPC6):c.334C>T (p.Leu112Phe)	GPC6, GPC6-AS2 (L112F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1367315	NM_005708.5(GPC6):c.376C>T (p.Arg126Trp)	GPC6, GPC6-AS2 (R126W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3043400	NM_005708.5(GPC6):c.387C>T (p.Gly129=)	GPC6, GPC6-AS2	Single nucleotide variant (synonymous variant)	GPC6-related disorder	GLikely benign
Select item 1946993	NM_005708.5(GPC6):c.421G>C (p.Asp141His)	GPC6, GPC6-AS2 (D141H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1076013	NM_005708.5(GPC6):c.433_451del (p.Glu145fs)	GPC6-AS2, GPC6 (E145fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2127939	NM_005708.5(GPC6):c.435G>A (p.Glu145=)	GPC6, GPC6-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1021590	NM_005708.5(GPC6):c.452C>A (p.Thr151Asn)	GPC6, GPC6-AS2 (T151N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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