HS6ST3[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 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 147510	GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1	ABCC4, ABHD13 +348 more	Copy number loss	See cases	GPathogenic
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 150125	GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3	LOC130010039, LOC130010040 +369 more	Copy number gain	See cases	GPathogenic
Select item 149209	GRCh38/hg38 13q32.1(chr13:95970073-96571702)x1	HS6ST3, MIR4501 +1 more	Copy number loss	See cases	GUncertain significance
Select item 154487	GRCh38/hg38 13q32.1(chr13:96029185-96540775)x1	HS6ST3, MIR4501 +1 more	Copy number loss	See cases	GUncertain significance
Select item 3107057	NM_153456.4(HS6ST3):c.61A>C (p.Ile21Leu)	HS6ST3 (I21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494445	NM_153456.4(HS6ST3):c.125G>T (p.Arg42Leu)	HS6ST3 (R42L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557628	NM_153456.4(HS6ST3):c.131G>C (p.Gly44Ala)	HS6ST3 (G44A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107050	NM_153456.4(HS6ST3):c.133G>A (p.Glu45Lys)	HS6ST3 (E45K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368074	NM_153456.4(HS6ST3):c.149C>T (p.Ala50Val)	HS6ST3 (A50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300962	NM_153456.4(HS6ST3):c.181C>A (p.Pro61Thr)	HS6ST3 (P61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468649	NM_153456.4(HS6ST3):c.190G>A (p.Glu64Lys)	HS6ST3 (E64K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287615	NM_153456.4(HS6ST3):c.220C>T (p.Pro74Ser)	HS6ST3 (P74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107051	NM_153456.4(HS6ST3):c.229G>C (p.Gly77Arg)	HS6ST3 (G77R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360667	NM_153456.4(HS6ST3):c.238G>C (p.Glu80Gln)	HS6ST3 (E80Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359046	NM_153456.4(HS6ST3):c.239A>C (p.Glu80Ala)	HS6ST3 (E80A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360668	NM_153456.4(HS6ST3):c.240G>C (p.Glu80Asp)	HS6ST3 (E80D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388851	NM_153456.4(HS6ST3):c.242G>T (p.Gly81Val)	HS6ST3 (G81V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107052	NM_153456.4(HS6ST3):c.245C>G (p.Pro82Arg)	HS6ST3 (P82R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599835	NM_153456.4(HS6ST3):c.248G>A (p.Arg83Gln)	HS6ST3 (R83Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284831	NM_153456.4(HS6ST3):c.260C>T (p.Ala87Val)	HS6ST3 (A87V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107053	NM_153456.4(HS6ST3):c.329C>T (p.Pro110Leu)	HS6ST3 (P110L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107055	NM_153456.4(HS6ST3):c.404C>T (p.Thr135Ile)	HS6ST3 (T135I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287114	NM_153456.4(HS6ST3):c.407G>A (p.Arg136His)	HS6ST3 (R136H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107056	NM_153456.4(HS6ST3):c.412G>A (p.Val138Met)	HS6ST3 (V138M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284832	NM_153456.4(HS6ST3):c.470G>A (p.Gly157Glu)	HS6ST3 (G157E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547515	NM_153456.4(HS6ST3):c.515A>G (p.Glu172Gly)	HS6ST3 (E172G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623922	NM_153456.4(HS6ST3):c.533A>G (p.Lys178Arg)	HS6ST3 (K178R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312294	NM_153456.4(HS6ST3):c.541C>G (p.Gln181Glu)	HS6ST3 (Q181E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284829	NM_153456.4(HS6ST3):c.574A>C (p.Lys192Gln)	HS6ST3 (K192Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284830	NM_153456.4(HS6ST3):c.575A>G (p.Lys192Arg)	HS6ST3 (K192R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535549	NM_153456.4(HS6ST3):c.614G>A (p.Ser205Asn)	HS6ST3 (S205N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107058	NM_153456.4(HS6ST3):c.700C>T (p.His234Tyr)	HS6ST3 (H234Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 58278	GRCh38/hg38 13q32.1(chr13:96265059-96974769)x3	HS6ST3, LINC00359 +3 more	Copy number gain	See cases	GUncertain significance
Select item 221746	GRCh38/hg38 13q32.1(chr13:96396846-96651749)x1	HS6ST3, MIR4501	Copy number loss	Premature ovarian failure	GBenign
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 2325087	NM_153456.4(HS6ST3):c.869G>C (p.Trp290Ser)	HS6ST3 (W290S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107060	NM_153456.4(HS6ST3):c.897G>A (p.Met299Ile)	HS6ST3 (M299I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287970	NM_153456.4(HS6ST3):c.916G>A (p.Ala306Thr)	HS6ST3 (A306T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107061	NM_153456.4(HS6ST3):c.935G>A (p.Arg312His)	HS6ST3 (R312H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603740	NM_153456.4(HS6ST3):c.975G>C (p.Leu325Phe)	HS6ST3 (L325F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643880	NM_153456.4(HS6ST3):c.1134G>A (p.Gln378=)	HS6ST3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3284828	NM_153456.4(HS6ST3):c.1145C>A (p.Thr382Lys)	HS6ST3 (T382K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284827	NM_153456.4(HS6ST3):c.1180C>T (p.Arg394Cys)	HS6ST3 (R394C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406922	NM_153456.4(HS6ST3):c.1181G>A (p.Arg394His)	HS6ST3 (R394H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226197	NM_153456.4(HS6ST3):c.1186C>T (p.Arg396Cys)	HS6ST3 (R396C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522260	NM_153456.4(HS6ST3):c.1187G>A (p.Arg396His)	HS6ST3 (R396H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284825	NM_153456.4(HS6ST3):c.1190T>C (p.Ile397Thr)	HS6ST3 (I397T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284826	NM_153456.4(HS6ST3):c.1192G>A (p.Glu398Lys)	HS6ST3 (E398K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107049	NM_153456.4(HS6ST3):c.1258C>T (p.His420Tyr)	HS6ST3 (H420Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643881	NM_153456.4(HS6ST3):c.1259A>T (p.His420Leu)	HS6ST3 (H420L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2209184	NM_153456.4(HS6ST3):c.1291C>T (p.Arg431Cys)	HS6ST3 (R431C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223479	NM_153456.4(HS6ST3):c.1292G>A (p.Arg431His)	HS6ST3 (R431H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284833	NM_153456.4(HS6ST3):c.1313G>A (p.Arg438Gln)	HS6ST3 (R438Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487807	NM_153456.4(HS6ST3):c.1378G>A (p.Val460Ile)	HS6ST3 (V460I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485847	NM_153456.4(HS6ST3):c.1411T>C (p.Trp471Arg)	HS6ST3 (W471R)	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 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
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 2446726	GRCh37/hg19 13q32.1-33.2(chr13:95700999-105271065)x3	DZIP1, ERCC5 +35 more	Copy number gain	See cases	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 1808276	GRCh37/hg19 13q31.3-33.2(chr13:93535335-105788229)x1	BIVM-ERCC5, CCDC168 +40 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 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 1527790	GRCh37/hg19 13q32.1-32.3(chr13:95677119-100521192)	ABCC4, CLDN10 +18 more	Copy number loss	not specified	GUncertain significance
Select item 1527788	GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)	ABCC4, ABHD13 +96 more	Copy number loss	not specified	GPathogenic
Select item 1527787	GRCh37/hg19 13q31.1-34(chr13:85037147-115107733)	ABCC4, ABHD13 +97 more	Copy number gain	not specified	GPathogenic
Select item 1527786	GRCh37/hg19 13q31.1-34(chr13:79370012-115107733)	DCUN1D2, ERCC5 +101 more	Copy number loss	not specified	GPathogenic

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