ClinVar for Gene (Select 266722) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3107060	NM_153456.4(HS6ST3):c.897G>A (p.Met299Ile)	HS6ST3 (M299I)	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 3107057	NM_153456.4(HS6ST3):c.61A>C (p.Ile21Leu)	HS6ST3 (I21L)	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 3107055	NM_153456.4(HS6ST3):c.404C>T (p.Thr135Ile)	HS6ST3 (T135I)	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 3107052	NM_153456.4(HS6ST3):c.245C>G (p.Pro82Arg)	HS6ST3 (P82R)	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 3107050	NM_153456.4(HS6ST3):c.133G>A (p.Glu45Lys)	HS6ST3 (E45K)	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 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	SLC15A1, SOX21 +50 more	Copy number loss	not provided	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ABCC4, ABHD13 +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	ABCC4, ABHD13 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
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 2643880	NM_153456.4(HS6ST3):c.1134G>A (p.Gln378=)	HS6ST3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2603740	NM_153456.4(HS6ST3):c.975G>C (p.Leu325Phe)	HS6ST3 (L325F)	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 2557628	NM_153456.4(HS6ST3):c.131G>C (p.Gly44Ala)	HS6ST3 (G44A)	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 2535549	NM_153456.4(HS6ST3):c.614G>A (p.Ser205Asn)	HS6ST3 (S205N)	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 2494445	NM_153456.4(HS6ST3):c.125G>T (p.Arg42Leu)	HS6ST3 (R42L)	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 2468649	NM_153456.4(HS6ST3):c.190G>A (p.Glu64Lys)	HS6ST3 (E64K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2406922	NM_153456.4(HS6ST3):c.1181G>A (p.Arg394His)	HS6ST3 (R394H)	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 2368074	NM_153456.4(HS6ST3):c.149C>T (p.Ala50Val)	HS6ST3 (A50V)	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 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 2325087	NM_153456.4(HS6ST3):c.869G>C (p.Trp290Ser)	HS6ST3 (W290S)	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 2300962	NM_153456.4(HS6ST3):c.181C>A (p.Pro61Thr)	HS6ST3 (P61T)	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 2287615	NM_153456.4(HS6ST3):c.220C>T (p.Pro74Ser)	HS6ST3 (P74S)	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 2226197	NM_153456.4(HS6ST3):c.1186C>T (p.Arg396Cys)	HS6ST3 (R396C)	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 2209184	NM_153456.4(HS6ST3):c.1291C>T (p.Arg431Cys)	HS6ST3 (R431C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	ABCC4, BIVM +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	CCDC169-SOHLH2, CCDC70 +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)	PCID2, PCOTH +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)	EFNB2, ERCC5 +96 more	Copy number loss	not specified	GPathogenic
Select item 1527787	GRCh37/hg19 13q31.1-34(chr13:85037147-115107733)	DCUN1D2, DNAJC3 +97 more	Copy number gain	not specified	GPathogenic
Select item 1527786	GRCh37/hg19 13q31.1-34(chr13:79370012-115107733)	F10, F7 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527785	GRCh37/hg19 13q22.3-34(chr13:78514567-115107733)	ITGBL1, LAMP1 +104 more	Copy number gain	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ABCC4, ABHD13 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	DCT, DGKH +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1341080	GRCh37/hg19 13q32.1(chr13:97339914-97531013)x1	HS6ST3	Copy number loss	not provided	GUncertain significance
Select item 1340083	GRCh37/hg19 13q32.1(chr13:97387902-97732153)x3	HS6ST3, OXGR1	Copy number gain	not provided	GUncertain significance
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1077192	Single allele	ITGBL1, LIG4 +58 more	Deletion	Distal monosomy 13q	GPathogenic
Select item 1074668	NC_000013.10:g.(?_92002837)_(103343314_?)del	ABCC4, CLDN10 +41 more	Deletion	Holoprosencephaly 5	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +332 more	Copy number gain	See cases	GPathogenic
Select item 815614	GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 815613	GRCh37/hg19 13q32.1(chr13:96648461-97090191)x3	HS6ST3, UGGT2	Copy number gain	not provided	GUncertain significance
Select item 815612	GRCh37/hg19 13q32.1-33.2(chr13:96240346-106103782)x1	BIVM, BIVM-ERCC5 +33 more	Copy number loss	not provided	GPathogenic
Select item 815611	GRCh37/hg19 13q31.3-32.1(chr13:94896219-96993668)x3	ABCC4, HS6ST3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	ABCC4, ABHD13 +142 more	Copy number loss	not provided	GPathogenic
Select item 688551	GRCh37/hg19 13q32.1(chr13:96664619-97662040)x1	HS6ST3, OXGR1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 687326	GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 687002	GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3	ABCC4, ABHD13 +86 more	Copy number gain	not provided	GUncertain significance
Select item 564082	GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3	ABCC4, ABHD13 +103 more	Copy number gain	not provided	GPathogenic
Select item 564081	GRCh37/hg19 13q31.3-33.3(chr13:94703767-109731879)x1	ABCC4, ABHD13 +49 more	Copy number loss	not provided	GPathogenic
Select item 564071	GRCh37/hg19 13q31.3-32.1(chr13:93348248-96975820)x3	GPC5, SOX21 +10 more	Copy number gain	not provided	GUncertain significance
Select item 564052	GRCh37/hg19 13q32.1(chr13:96664236-97672631)x1	HS6ST3, UGGT2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 564047	GRCh37/hg19 13q32.1(chr13:96487525-97295519)x4	HS6ST3, UGGT2	Copy number gain	not provided	GUncertain significance
Select item 443213	GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3	ABHD13, ADPRHL1 +98 more	Copy number gain	See cases	GPathogenic
Select item 442938	GRCh37/hg19 13q32.1-34(chr13:96586481-115107733)x1	ABHD13, ADPRHL1 +77 more	Copy number loss	See cases	GPathogenic
Select item 442796	GRCh37/hg19 13q21.1-34(chr13:56431743-115107733)	ABCC4, ABHD13 +137 more	Copy number gain	See cases	GPathogenic
Select item 442647	GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1	ABCC4, ABHD13 +86 more	Copy number loss	See cases	GPathogenic
Select item 442311	GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3	ABCC4, ABHD13 +97 more	Copy number gain	See cases	GPathogenic
Select item 441797	GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3	ABCC4, ABHD13 +100 more	Copy number gain	See cases	GPathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441737	GRCh37/hg19 13q31.1-33.3(chr13:80572498-108719528)x1	ABCC4, ARGLU1 +58 more	Copy number loss	See cases	GPathogenic
Select item 441662	GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4	ERCC5, F10 +125 more	Copy number gain	See cases	GPathogenic
Select item 395478	GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1	ABCC4, ABHD13 +102 more	Copy number loss	See cases	GPathogenic
Select item 395197	GRCh37/hg19 13q31.1-33.1(chr13:81851091-102864674)x1	ABCC4, CLDN10 +43 more	Copy number loss	See cases	GPathogenic
Select item 395156	GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3	ABCC4, ABHD13 +98 more	Copy number gain	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	ALG11, ABCC4 +332 more	Copy number gain	See cases	GPathogenic
Select item 253491	GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1	ABCC4, ABHD13 +94 more	Copy number loss	See cases	GPathogenic

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