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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 580961.	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 GRCh37: Chr5:73459011-110145153 GRCh38: Chr5:74163186-110809453	ENC1, ERAP1, ERAP2, F2R, F2RL1, F2RL2, FAM151B, FAM151B-DT, FAM169A, FAM169A-AS1, FAM174A, FAM174A-DT, FAM81B, FBXL17, FER, GCNT4, GFM2, GIN1, GLRX, GPR150, HAPLN1, HEXB, HMGCR, HOMER1, IQGAP2, JMY, KIAA0825, LHFPL2, LINC00491, LINC00492, LINC01023, LINC01157, LINC01331, LINC01333, LINC01335, LINC01337, LINC01338, LINC01339, LINC01340, LINC01455, LINC01554, LINC01846, LINC01848, LINC01949, LINC01950, LINC02059, LINC02060, LINC02113, LINC02115, LINC02144, LINC02234, LINC02488, LIX1, LIX1-AS1, LNPEP, LOC100289230, LOC101929109, LOC101929154, LOC101929380, LOC101929710, LOC102724637, LOC102724720, LOC105379051, LOC105379082, LOC105379109, LOC108175351, LOC110120605, LOC110120636, LOC110120637, LOC110120638, LOC110120640, LOC110120641, LOC110120688, LOC110120699, LOC110120744, LOC110120771, LOC110120789, LOC110120808, LOC110120815, LOC110120966, LOC110120971, LOC110120974, LOC110120977, LOC110120982, LOC110120991, LOC110121009, LOC110121012, LOC110121013, LOC110121035, LOC110121070, LOC110121101, LOC110121147, LOC110121176, LOC110121194, LOC111556141, LOC111562375, LOC111591505, LOC112997552, LOC113002592, LOC113002593, LOC113002594, LOC113002595, LOC113002596, LOC114004395, LOC116158519, LOC116158520, LOC116158521, LOC121079946, LOC121079947, LOC121079948, LOC121079949, LOC121079950, LOC121079951, LOC121079952, LOC121079953, LOC121079954, LOC121079955, LOC121725208, LOC121725209, LOC121725210, LOC121725211, LOC121725212, LOC121725213, LOC123497910, LOC123497911, LOC123497912, LOC123497913, LOC123497914, LOC123497915, LOC123497916, LOC123497917, LOC123497918, LOC123497919, LOC123497920, LOC123497921, LOC123497922, LOC123497923, LOC123497924, LOC123497925, LOC123497926, LOC123497928, LOC123497929, LOC123497930, LOC123497931, LOC123497932, LOC123497933, LOC123497934, LOC123497935, LOC123497936, LOC123497937, LOC123497938, LOC123497939, LOC123497940, LOC123497941, LOC123497942, LOC123497943, LOC123497944, LOC123497945, LOC123497946, LOC123497947, LOC123497948, LOC123497949, LOC123497950, LOC123497951, LOC126807422, LOC126807423, LOC126807424, LOC126807425, LOC126807426, LOC126807427, LOC126807428, LOC126807429, LOC126807430, LOC126807431, LOC126807432, LOC126807433, LOC126807434, LOC126807435, LOC126807436, LOC126807437, LOC126807438, LOC126807439, LOC126807440, LOC126807441, LOC126807442, LOC126807443, LOC126807444, LOC126807445, LOC126807446, LOC126807447, LOC126807448, LOC126807449, LOC126807450, LOC126807451, LOC126807452, LOC126807453, LOC126807454, LOC126807455, LOC126807456, LOC126807457, LOC126807458, LOC126807459, LOC126807460, LOC126807461, LOC126807462, LOC126807463, LOC126807464, LOC126807465, LOC126807466, LOC126807467, LOC126807468, LOC126807469, LOC126807470, LOC126807471, LOC126807472, LOC126807473, LOC128772265, LOC128772266, LOC128772267, LOC128772268, LOC128772269, LOC128772270, LOC128772271, LOC128772272, LOC128772273, LOC129389299, LOC129389300, LOC129389301, LOC129389302, LOC129389303, LOC129389304, LOC129389305, LOC129389306, LOC129389307, LOC129389308, LOC129389309, LOC129389310, LOC129389311, LOC129389312, LOC129389313, LOC129389314, LOC129389315, LOC129389316, LOC129389317, LOC129389318, LOC129389319, LOC129389320, LOC129389321, LOC129389322, LOC129389323, LOC129389324, LOC129389325, LOC129389326, LOC129389327, LOC129389328, LOC129389329, LOC129389330, LOC129389331, LOC129389332, LOC129389333, LOC129389334, LOC129389335, LOC129389336, LOC129389337, LOC129389338, LOC129389339, LOC129389340, LOC129389341, LOC129389342, LOC129389343, LOC129994047, LOC129994048, LOC129994049, LOC129994050, LOC129994051, LOC129994052, LOC129994053, LOC129994054, LOC129994055, LOC129994056, LOC129994057, LOC129994058, LOC129994059, LOC129994060, LOC129994061, LOC129994062, LOC129994063, LOC129994064, LOC129994065, LOC129994066, LOC129994067, LOC129994068, LOC129994069, LOC129994070, LOC129994071, LOC129994072, LOC129994073, LOC129994074, LOC129994075, LOC129994076, LOC129994077, LOC129994078, LOC129994079, LOC129994080, LOC129994081, LOC129994082, LOC129994083, LOC129994084, LOC129994085, LOC129994086, LOC129994087, LOC129994088, LOC129994089, LOC129994090, LOC129994091, LOC129994092, LOC129994093, LOC129994094, LOC129994095, LOC129994096, LOC129994097, LOC129994098, LOC129994099, LOC129994100, LOC129994101, LOC129994102, LOC129994103, LOC129994104, LOC129994105, LOC129994106, LOC129994107, LOC129994108, LOC129994109, LOC129994110, LOC129994111, LOC129994112, LOC129994113, LOC129994114, LOC129994115, LOC129994116, LOC129994117, LOC129994118, LOC129994119, LOC129994120, LOC129994121, LOC129994122, LOC129994123, LOC129994124, LOC129994125, LOC129994126, LOC129994127, LOC129994128, LOC129994129, LOC129994130, LOC129994131, LOC129994132, LOC129994133, LOC129994134, LOC129994135, LOC129994136, LOC129994137, LOC129994138, LOC129994139, LOC129994140, LOC129994141, LOC129994142, LOC129994143, LOC129994144, LOC129994145, LOC129994146, LOC129994147, LOC129994148, LOC129994149, LOC129994150, LOC129994151, LOC129994152, LOC129994153, LOC129994154, LOC129994155, LOC129994156, LOC129994157, LOC129994158, LOC129994159, LOC129994160, LOC129994161, LOC129994162, LOC129994163, LOC129994164, LOC129994165, LOC129994166, LOC129994167, LOC129994168, LOC129994169, LOC129994170, LOC129994171, LOC129994172, LOC129994173, LOC129994174, LOC129994175, LOC129994176, LOC129994177, LOC129994178, LOC129994179, LOC129994180, LOC129994181, LOC129994182, LOC129994183, LOC129994184, LOC129994185, LOC129994186, LOC129994187, LOC129994188, LOC129994189, LOC129994190, LOC129994191, LOC129994192, LOC129994193, LOC129994194, LOC129994195, LOC129994196, LOC129994197, LOC129994198, LOC129994199, LOC129994200, LOC129994201, LOC129994202, LOC129994203, LOC129994204, LOC129994205, LOC129994206, LOC129994207, LOC129994208, LOC129994209, LOC129994210, LOC129994211, LOC129994212, LOC129994213, LOC129994214, LOC129994215, LOC129994216, LOC129994217, LOC129994218, LOC129994219, LOC129994220, LOC129994221, LOC129994222, LOC129994223, LOC129994224, LOC129994225, LOC129994226, LOC129994227, LOC129994228, LOC129994229, LOC129994230, LOC129994231, LOC129994232, LOC129994233, LOC129994234, LOC129994235, LOC129994236, LOC129994237, LOC129994238, LOC129994239, LOC129994240, LOC129994241, LOC129994242, LOC129994243, LOC129994244, LOC129994245, LOC129994246, LOC129994247, LOC129994248, LOC129994249, LOC129994250, LOC129994251, LOC129994252, LOC129994253, LOC129994254, LOC129994255, LOC129994256, LOC129994257, LOC129994258, LOC129994259, LOC129994260, LOC129994261, LOC129994262, LOC129994263, LOC129994264, LOC129994265, LOC129994266, LOC129994267, LOC129994268, LOC129994269, LOC129994270, LOC129994271, LOC129994272, LOC129994273, LOC129994274, LOC129994275, LOC129994276, LOC129994277, LOC129994278, LOC129994279, LOC129994280, LOC129994281, LOC129994282, LOC129994283, LOC129994284, LOC129994285, LOC129994286, LOC129994287, LOC129994288, LOC129994289, LOC129994290, LOC129994291, LOC129994292, LOC129994293, LOC129994294, LOC129994295, LOC129994296, LOC129994297, LOC129994298, LOC129994299, LOC129994300, ACOT12, ADGRV1, AGGF1, ANKDD1B, ANKRD31, ANKRD34B, AP3B1, ARB2A, ARRDC3, ARRDC3-AS1, ARSB, ARSK, ATG10, ATP6AP1L, BHMT, BHMT2, CAST, CCNH, CERT1, CETN3, CHD1, CHD1-DT, CKMT2, CKMT2-AS1, CMYA5, COX7C, CRE1, CRHBP, DHFR, DMGDH, EDIL3, EDIL3-DT, EFNA5, ELL2, LOC129994301, LOC129994302, LOC129994303, LOC129994304, LOC129994305, LOC129994306, LOC129994307, LOC129994308, LOC129994309, LOC129994310, LOC129994311, LOC129994312, LOC129994313, LOC129994314, LOC129994315, LOC129994316, LOC129994317, LOC129994318, LOC129994319, LOC129994320, LOC129994321, LOC129994322, LOC129994323, LOC129994324, LOC129994325, LOC129994326, LOC129994327, LOC129994328, LOC129994329, LOC129994330, LOC129994331, LOC129994332, LOC129994333, LOC129994334, LOC129994335, LOC129994336, LOC129994337, LOC129994338, LOC129994339, LOC129994340, LOC129994341, LOC129994342, LOC129994343, LOC129994344, LOC129994345, LOC132089159, LOC132089160, LOC132089304, LOC285638, LOC441087, LOC644285, LOC645261, LOC731157, LUCAT1, LYSMD3, MACIR, MAN2A1, MAN2A1-DT, MBLAC2, MCTP1, MEF2C, MEF2C-AS1, MEF2C-AS2, MIR2277, MIR3660, MIR3977, MIR4280, MIR4280HG, MIR548F3, MIR548P, MIR583, MIR9-2, MIR9-2HG, MSH3, MTRNR2L2, MTX3, NCRUPAR, NR2F1, NR2F1-AS1, NSA2, NUDT12, OTP, PAM, PCSK1, PDE8B, PJA2, POC5, POLK, POLR3G, POU5F2, PPIP5K2, RASA1, RASGRF2, RASGRF2-AS1, RFESD, RGMB, RGMB-AS1, RHOBTB3, RIOK2, RPS23, S100Z, SCAMP1, SCAMP1-AS1, SCARNA18, SERINC5, SKIC3, SLC25A46, SLCO4C1, SLCO6A1, SLF1, SNORA47, SNORD138, SPATA9, SPZ1, SSBP2, ST8SIA4, SV2C, SV2C-AS1, TBCA, TENT2, THBS4, THBS4-AS1, TMEM161B, TMEM161B-DT, TMEM167A, TMEM232, VCAN, VCAN-AS1, WDR41, XRCC4, ZBED3, ZBED3-AS1, ZCCHC9, ZFYVE16		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 3695092.	NM_000046.3(ARSB):c.*3195A>G GRCh37: Chr5:78073025 GRCh38: Chr5:78777202	ARSB		Mucopolysaccharidosis type 6	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 3542573.	NM_000046.5(ARSB):c.*3181T>A GRCh37: Chr5:78073039 GRCh38: Chr5:78777216	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 3542564.	NM_000046.5(ARSB):c.*3181T>G GRCh37: Chr5:78073039 GRCh38: Chr5:78777216	ARSB		Mucopolysaccharidosis type 6	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 3542585.	NM_000046.5(ARSB):c.*3174T>G GRCh37: Chr5:78073046 GRCh38: Chr5:78777223	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 3542596.	NM_000046.5(ARSB):c.*3163T>C GRCh37: Chr5:78073057 GRCh38: Chr5:78777234	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 3542607.	NM_000046.5(ARSB):c.*3152A>G GRCh37: Chr5:78073068 GRCh38: Chr5:78777245	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 9066178.	NM_000046.5(ARSB):c.*3147G>A GRCh37: Chr5:78073073 GRCh38: Chr5:78777250	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 3542619.	NM_000046.5(ARSB):c.*3047T>C GRCh37: Chr5:78073173 GRCh38: Chr5:78777350	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35426210.	NM_000046.5(ARSB):c.*2975G>T GRCh37: Chr5:78073245 GRCh38: Chr5:78777422	ARSB		Mucopolysaccharidosis type 6	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35426311.	NM_000046.5(ARSB):c.*2859T>C GRCh37: Chr5:78073361 GRCh38: Chr5:78777538	ARSB		Mucopolysaccharidosis type 6	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90661812.	NM_000046.5(ARSB):c.*2831T>A GRCh37: Chr5:78073389 GRCh38: Chr5:78777566	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90764013.	NM_000046.5(ARSB):c.*2784C>A GRCh37: Chr5:78073436 GRCh38: Chr5:78777613	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35426414.	NM_000046.5(ARSB):c.*2708G>A GRCh37: Chr5:78073512 GRCh38: Chr5:78777689	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35426515.	NM_000046.5(ARSB):c.*2707C>T GRCh37: Chr5:78073513 GRCh38: Chr5:78777690	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90764116.	NM_000046.5(ARSB):c.*2684G>A GRCh37: Chr5:78073536 GRCh38: Chr5:78777713	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90764217.	NM_000046.5(ARSB):c.*2680C>T GRCh37: Chr5:78073540 GRCh38: Chr5:78777717	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35426618.	NM_000046.5(ARSB):c.*2672A>G GRCh37: Chr5:78073548 GRCh38: Chr5:78777725	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90764319.	NM_000046.5(ARSB):c.*2654A>G GRCh37: Chr5:78073566 GRCh38: Chr5:78777743	ARSB		Mucopolysaccharidosis type 6	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35426720.	NM_000046.5(ARSB):c.2637_2639dup GRCh37: Chr5:78073580-78073581 GRCh38: Chr5:78777757-78777758	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35426821.	NM_000046.5(ARSB):c.*2608G>A GRCh37: Chr5:78073612 GRCh38: Chr5:78777789	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90430722.	NM_000046.5(ARSB):c.*2593T>G GRCh37: Chr5:78073627 GRCh38: Chr5:78777804	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35426923.	NM_000046.5(ARSB):c.*2578A>T GRCh37: Chr5:78073642 GRCh38: Chr5:78777819	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90430824.	NM_000046.5(ARSB):c.*2571A>G GRCh37: Chr5:78073649 GRCh38: Chr5:78777826	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90430925.	NM_000046.5(ARSB):c.*2559G>A GRCh37: Chr5:78073661 GRCh38: Chr5:78777838	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35427026.	NM_000046.5(ARSB):c.2543_2545dup GRCh37: Chr5:78073674-78073675 GRCh38: Chr5:78777851-78777852	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 90431027.	NM_000046.5(ARSB):c.*2526T>A GRCh37: Chr5:78073694 GRCh38: Chr5:78777871	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90431128.	NM_000046.5(ARSB):c.*2525A>T GRCh37: Chr5:78073695 GRCh38: Chr5:78777872	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90431229.	NM_000046.5(ARSB):c.*2524A>T GRCh37: Chr5:78073696 GRCh38: Chr5:78777873	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90431330.	NM_000046.5(ARSB):c.*2408A>G GRCh37: Chr5:78073812 GRCh38: Chr5:78777989	ARSB		not provided, Mucopolysaccharidosis type 6	Conflicting interpretations of pathogenicity (Jul 1, 2023)	criteria provided, conflicting interpretations
Select item 35427131.	NM_000046.5(ARSB):c.*2287C>T GRCh37: Chr5:78073933 GRCh38: Chr5:78778110	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90510432.	NM_000046.5(ARSB):c.*2251G>A GRCh37: Chr5:78073969 GRCh38: Chr5:78778146	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35427233.	NM_000046.5(ARSB):c.*2243A>G GRCh37: Chr5:78073977 GRCh38: Chr5:78778154	ARSB		Mucopolysaccharidosis type 6	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90510534.	NM_000046.5(ARSB):c.*2164T>A GRCh37: Chr5:78074056 GRCh38: Chr5:78778233	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90510635.	NM_000046.5(ARSB):c.*2158C>T GRCh37: Chr5:78074062 GRCh38: Chr5:78778239	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90510736.	NM_000046.5(ARSB):c.*2155C>T GRCh37: Chr5:78074065 GRCh38: Chr5:78778242	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90510837.	NM_000046.5(ARSB):c.*2092A>T GRCh37: Chr5:78074128 GRCh38: Chr5:78778305	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35427338.	NM_000046.5(ARSB):c.*2080G>A GRCh37: Chr5:78074140 GRCh38: Chr5:78778317	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35427439.	NM_000046.5(ARSB):c.*2022T>G GRCh37: Chr5:78074198 GRCh38: Chr5:78778375	ARSB		Mucopolysaccharidosis type 6	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35427540.	NM_000046.5(ARSB):c.*2013G>A GRCh37: Chr5:78074207 GRCh38: Chr5:78778384	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35427641.	NM_000046.5(ARSB):c.*1989C>T GRCh37: Chr5:78074231 GRCh38: Chr5:78778408	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90668842.	NM_000046.5(ARSB):c.*1951A>G GRCh37: Chr5:78074269 GRCh38: Chr5:78778446	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 35427743.	NM_000046.5(ARSB):c.*1899dup GRCh37: Chr5:78074320-78074321 GRCh38: Chr5:78778497-78778498	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35427844.	NM_000046.5(ARSB):c.*1729del GRCh37: Chr5:78074491 GRCh38: Chr5:78778668	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 90668945.	NM_000046.5(ARSB):c.*1635G>A GRCh37: Chr5:78074585 GRCh38: Chr5:78778762	ARSB		not provided, Mucopolysaccharidosis type 6	Conflicting interpretations of pathogenicity (Dec 1, 2022)	criteria provided, conflicting interpretations
Select item 35427946.	NM_000046.5(ARSB):c.*1610G>A GRCh37: Chr5:78074610 GRCh38: Chr5:78778787	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90669047.	NM_000046.5(ARSB):c.*1594C>A GRCh37: Chr5:78074626 GRCh38: Chr5:78778803	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35428048.	NM_000046.5(ARSB):c.*1539dup GRCh37: Chr5:78074680-78074681 GRCh38: Chr5:78778857-78778858	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35428149.	NM_000046.5(ARSB):c.*1513C>T GRCh37: Chr5:78074707 GRCh38: Chr5:78778884	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35428250.	NM_000046.5(ARSB):c.*1499C>G GRCh37: Chr5:78074721 GRCh38: Chr5:78778898	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35428351.	NM_000046.5(ARSB):c.*1469C>T GRCh37: Chr5:78074751 GRCh38: Chr5:78778928	ARSB		Mucopolysaccharidosis type 6	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90771652.	NM_000046.5(ARSB):c.*1420G>A GRCh37: Chr5:78074800 GRCh38: Chr5:78778977	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35428453.	NM_000046.5(ARSB):c.*1387C>T GRCh37: Chr5:78074833 GRCh38: Chr5:78779010	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90771754.	NM_000046.5(ARSB):c.*1373A>G GRCh37: Chr5:78074847 GRCh38: Chr5:78779024	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35428555.	NM_000046.5(ARSB):c.*1372dup GRCh37: Chr5:78074847-78074848 GRCh38: Chr5:78779024-78779025	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35428656.	NM_000046.5(ARSB):c.*1360T>A GRCh37: Chr5:78074860 GRCh38: Chr5:78779037	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90771857.	NM_000046.5(ARSB):c.*1326G>T GRCh37: Chr5:78074894 GRCh38: Chr5:78779071	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35428758.	NM_000046.5(ARSB):c.*1302G>T GRCh37: Chr5:78074918 GRCh38: Chr5:78779095	ARSB		Mucopolysaccharidosis type 6	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35428859.	NM_000046.5(ARSB):c.*1286C>T GRCh37: Chr5:78074934 GRCh38: Chr5:78779111	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35428960.	NM_000046.5(ARSB):c.*1276C>G GRCh37: Chr5:78074944 GRCh38: Chr5:78779121	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35429061.	NM_000046.5(ARSB):c.*1257A>C GRCh37: Chr5:78074963 GRCh38: Chr5:78779140	ARSB		Mucopolysaccharidosis type 6	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35429162.	NM_000046.5(ARSB):c.*1169T>C GRCh37: Chr5:78075051 GRCh38: Chr5:78779228	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90437463.	NM_000046.5(ARSB):c.*1153C>A GRCh37: Chr5:78075067 GRCh38: Chr5:78779244	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35429264.	NM_000046.5(ARSB):c.*1147G>A GRCh37: Chr5:78075073 GRCh38: Chr5:78779250	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 90437565.	NM_000046.5(ARSB):c.*1146G>A GRCh37: Chr5:78075074 GRCh38: Chr5:78779251	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90437666.	NM_000046.5(ARSB):c.*994C>A GRCh37: Chr5:78075226 GRCh38: Chr5:78779403	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35429367.	NM_000046.5(ARSB):c.*990C>T GRCh37: Chr5:78075230 GRCh38: Chr5:78779407	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90517268.	NM_000046.5(ARSB):c.*965A>G GRCh37: Chr5:78075255 GRCh38: Chr5:78779432	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90517369.	NM_000046.5(ARSB):c.*933C>T GRCh37: Chr5:78075287 GRCh38: Chr5:78779464	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90517470.	NM_000046.5(ARSB):c.*922C>T GRCh37: Chr5:78075298 GRCh38: Chr5:78779475	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 35429471.	NM_000046.5(ARSB):c.*810C>T GRCh37: Chr5:78075410 GRCh38: Chr5:78779587	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35429572.	NM_000046.5(ARSB):c.*793T>A GRCh37: Chr5:78075427 GRCh38: Chr5:78779604	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35429673.	NM_000046.5(ARSB):c.*635C>G GRCh37: Chr5:78075585 GRCh38: Chr5:78779762	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35429774.	NM_000046.5(ARSB):c.*619G>T GRCh37: Chr5:78075601 GRCh38: Chr5:78779778	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35429875.	NM_000046.5(ARSB):c.*618C>T GRCh37: Chr5:78075602 GRCh38: Chr5:78779779	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35429976.	NM_000046.5(ARSB):c.*608G>A GRCh37: Chr5:78075612 GRCh38: Chr5:78779789	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90676977.	NM_000046.5(ARSB):c.*420A>G GRCh37: Chr5:78075800 GRCh38: Chr5:78779977	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90677078.	NM_000046.5(ARSB):c.*384T>A GRCh37: Chr5:78075836 GRCh38: Chr5:78780013	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90677179.	NM_000046.5(ARSB):c.*340A>C GRCh37: Chr5:78075880 GRCh38: Chr5:78780057	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35430080.	NM_000046.5(ARSB):c.*212A>G GRCh37: Chr5:78076008 GRCh38: Chr5:78780185	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35430181.	NM_000046.5(ARSB):c.*202A>G GRCh37: Chr5:78076018 GRCh38: Chr5:78780195	ARSB		not provided, Mucopolysaccharidosis type 6	Benign (Jul 10, 2018)	criteria provided, multiple submitters, no conflicts
Select item 90677282.	NM_000046.5(ARSB):c.*166G>A GRCh37: Chr5:78076054 GRCh38: Chr5:78780231	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35430283.	NM_000046.5(ARSB):c.*60G>A GRCh37: Chr5:78076160 GRCh38: Chr5:78780337	ARSB		not provided, Mucopolysaccharidosis type 6	Benign/Likely benign (Jul 5, 2018)	criteria provided, multiple submitters, no conflicts
Select item 85409284.	NM_000046.5(ARSB):c.1601A>C (p.Ter534Ser) GRCh37: Chr5:78076221 GRCh38: Chr5:78780398	ARSB		Mucopolysaccharidosis type 6	Likely pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 55972985.	NM_000046.5(ARSB):c.1601A>G (p.Ter534Trp) GRCh37: Chr5:78076221 GRCh38: Chr5:78780398	ARSB		Mucopolysaccharidosis type 6	Conflicting interpretations of pathogenicity (Jul 5, 2022)	criteria provided, conflicting interpretations
Select item 55972886.	NM_000046.5(ARSB):c.1600T>C (p.Ter534Gln) GRCh37: Chr5:78076222 GRCh38: Chr5:78780399	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 1, 2018)	criteria provided, single submitter
Select item 55972687.	NM_000046.5(ARSB):c.1582_1596del (p.Val528_Trp532del) GRCh37: Chr5:78076226-78076240 GRCh38: Chr5:78780403-78780417	ARSB		Mucopolysaccharidosis type 6	Uncertain significance (Jan 1, 2018)	criteria provided, single submitter
Select item 242914388.	NM_000046.5(ARSB):c.1595G>A (p.Trp532Ter) GRCh37: Chr5:78076227 GRCh38: Chr5:78780404	ARSB	W532*	not specified	Uncertain significance (Jan 31, 2023)	criteria provided, single submitter
Select item 55972789.	NM_000046.5(ARSB):c.1592C>G (p.Pro531Arg) GRCh37: Chr5:78076230 GRCh38: Chr5:78780407	ARSB	P531R	Mucopolysaccharidosis type 6	Uncertain significance (Jan 1, 2018)	criteria provided, single submitter
Select item 73079190.	NM_000046.5(ARSB):c.1590C>A (p.Gly530=) GRCh37: Chr5:78076232 GRCh38: Chr5:78780409	ARSB		not provided	Likely benign (Dec 20, 2017)	criteria provided, single submitter
Select item 112561991.	NM_000046.5(ARSB):c.1584G>A (p.Val528=) GRCh37: Chr5:78076238 GRCh38: Chr5:78780415	ARSB		Mucopolysaccharidosis type 6	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 199922792.	NM_000046.5(ARSB):c.1581G>C (p.Gly527=) GRCh37: Chr5:78076241 GRCh38: Chr5:78780418	ARSB		Mucopolysaccharidosis type 6	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 109581293.	NM_000046.5(ARSB):c.1578T>C (p.Thr526=) GRCh37: Chr5:78076244 GRCh38: Chr5:78780421	ARSB		Mucopolysaccharidosis type 6	Likely benign (Dec 3, 2019)	criteria provided, single submitter
Select item 55972494.	NM_000046.5(ARSB):c.1577del (p.Thr526fs) GRCh37: Chr5:78076245 GRCh38: Chr5:78780422	ARSB	T526fs	Mucopolysaccharidosis type 6, not provided	Pathogenic (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 113989695.	NM_000046.5(ARSB):c.1575C>A (p.Ala525=) GRCh37: Chr5:78076247 GRCh38: Chr5:78780424	ARSB		Mucopolysaccharidosis type 6	Likely benign (Aug 2, 2020)	criteria provided, single submitter
Select item 55972396.	NM_000046.5(ARSB):c.1562G>A (p.Cys521Tyr) GRCh37: Chr5:78076260 GRCh38: Chr5:78780437	ARSB	C521Y	Mucopolysaccharidosis type 6	Uncertain significance (Jan 1, 2018)	criteria provided, single submitter
Select item 109122097.	NM_000046.5(ARSB):c.1560C>T (p.Arg520=) GRCh37: Chr5:78076262 GRCh38: Chr5:78780439	ARSB		Mucopolysaccharidosis type 6	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 224435998.	NM_000046.5(ARSB):c.1559G>A (p.Arg520His) GRCh37: Chr5:78076263 GRCh38: Chr5:78780440	ARSB	R520H	Inborn genetic diseases	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 216288899.	NM_000046.5(ARSB):c.1558C>T (p.Arg520Cys) GRCh37: Chr5:78076264 GRCh38: Chr5:78780441	ARSB	R520C	Mucopolysaccharidosis type 6	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 1068506100.	NM_000046.5(ARSB):c.1558del (p.Arg520fs) GRCh37: Chr5:78076264 GRCh38: Chr5:78780441	ARSB	R520fs	Mucopolysaccharidosis type 6	Pathogenic (Aug 12, 2021)	criteria provided, single submitter

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