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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: disease of catalytic activity (MONDO:0044976)
Parent Node: mucopolysaccharidosis type 4 (MONDO:0018938)
..Starting node ..mucopolysaccharidosis type 4A ()
Child Nodes:
Sister Nodes:
..Morquio syndrome C ()
..mucopolysaccharidosis type 4A ()
..mucopolysaccharidosis type 4B ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

9659

Name:

mucopolysaccharidosis type 4A

Definition:

A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.

Alternative IDs:

253000

ParentIDs:

TreeNumbers:

Synonyms:

galactosamine-6-sulfatase deficiency; GALNS deficiency; Morquio A disease; Morquio disease type A; Morquio syndrome A; MPS 4A; MPS IV A; MPS IVA; MPS4A; MPSIVA; mucopolysaccharidosis type IVA; mucopolysaccharidosis, type 4A; mucopolysaccharidosis, type IVA; mucopolysaccharidosis, type IVA; MPS4A; N-

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 253000;
MSeqDR :
Genes: GALNS;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003621	Juvenile onset
3	HP:0001654	Abnormal heart valve morphology
4	HP:0000670	Carious teeth
5	HP:0002318	Cervical myelopathy
6	HP:0003308	Cervical subluxation
7	HP:0012070	Chondroitin sulfate excretion in urine
8	HP:0000280	Coarse facial features
9	HP:0003277	Constricted iliac wings
10	HP:0002673	Coxa valga
11	HP:0003521	Disproportionate short-trunk short stature
12	HP:0003053	Epiphyseal deformities of tubular bones
13	HP:0000904	Flaring of rib cage
14	HP:0002857	Genu valgum
15	HP:0000683	Grayish enamel
16	HP:0000365	Hearing impairment
17	HP:0002240	Hepatomegaly
18	HP:0003307	Hyperlordosis
19	HP:0003311	Hypoplasia of the odontoid process
20	HP:0000023	Inguinal hernia
21	HP:0001388	Joint laxity
22	HP:0012069	Keratan sulfate excretion in urine
23	HP:0002808	Kyphosis
24	HP:0030865	Large elbow
25	HP:0000303	Mandibular prognathia
26	HP:0003016	Metaphyseal widening
27	HP:0007759	Opacification of the corneal stroma
28	HP:0000939	Osteoporosis
29	HP:0003300	Ovoid vertebral bodies
30	HP:0000926	Platyspondyly
31	HP:0001223	Pointed proximal second through fifth metacarpals
32	HP:0000884	Prominent sternum
33	HP:0002788	Recurrent upper respiratory tract infections
34	HP:0002091	Restrictive ventilatory defect
35	HP:0002650	Scoliosis
36	HP:0003049	Ulnar deviation of the wrist
37	HP:0000154	Wide mouth
38	HP:0000687	Widely spaced teeth

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000016.9:g.(?_88798723)_(88909257_?)dup	-1	APRT;CDT1;GALNS;PIEZO1	Uncertain significance	-1	RCV001875013\|RCV001875014;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88798723	88909257	-1	-
NM_000512.5(GALNS):c.*701C>G	-1	APRT;GALNS	Benign	77936719	RCV000292105\|RCV000393994\|RCV001117375;	N	MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880146	88880146	NC_000016.9:g.88880146G>C	ClinGen:CA10649271	C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000512.5(GALNS):c.*652A>G	-1	APRT;GALNS	Benign	1135366	RCV000305896\|RCV000344622\|RCV001117377;	N	MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582\|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880195	88880195	NC_000016.9:g.88880195T>C	ClinGen:CA10649273	C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000512.5(GALNS):c.*611A>G	-1	APRT;GALNS	Benign	1135364	RCV000358140\|RCV000382979\|RCV001118986;	N	MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582\|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880236	88880236	NC_000016.9:g.88880236T>C	ClinGen:CA10638661	C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000512.5(GALNS):c.*524G>C	-1	APRT;GALNS	Benign/Likely benign	3759946	RCV000260216\|RCV000295639\|RCV001118987;	N	MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582\|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880323	88880323	NC_000016.9:g.88880323C>G	ClinGen:CA10644575	C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000512.5(GALNS):c.*367T>C	-1	APRT;GALNS	Benign	1141390	RCV000348247\|RCV000388537\|RCV001120959\|RCV001597086;	N	MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88880480	88880480	NC_000016.9:g.88880480A>G	ClinGen:CA10649277	C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000512.5(GALNS):c.*296A>G	-1	APRT;GALNS	Benign/Likely benign	79507351	RCV000277821\|RCV000400354\|RCV001120960\|RCV001613028;	N	MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582\|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88880551	88880551	NC_000016.9:g.88880551T>C	ClinGen:CA10644582	C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000512.5(GALNS):c.*224C>G	-1	APRT;GALNS	Benign/Likely benign	111233947	RCV000299081\|RCV000348177\|RCV001116033\|RCV001582962;	N	MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88880623	88880623	16:g.88880623G>C	ClinGen:CA10648348	C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000512.5(GALNS):c.*212C>A	-1	APRT;GALNS	Uncertain significance	117754023	RCV001116034\|RCV001118989;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976	16	88880635	88880635	16:g.88880635G>T	-
NM_000512.5(GALNS):c.*36G>A	-1	APRT;GALNS	Benign	11076715	RCV000251496\|RCV000302569\|RCV000335305\|RCV001117488\|RCV001668438;	N	MedGen:CN169374\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582\|MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723, Orphanet:976\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88880811	88880811	16:g.88880811C>T	ClinGen:CA8234627	C0268120 614723 Adenine phosphoribosyltransferase deficiency;
NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter)	2588	GALNS	Pathogenic/Likely pathogenic	372893383	RCV000174686\|RCV001578462\|RCV002509202;	N	MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582	16	88880857	88880857	16:g.88880857C>T	ClinGen:CA221049	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)	2588	GALNS	Pathogenic/Likely pathogenic	118204437	RCV000000735\|RCV000079019\|RCV000781397;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582	16	88891261	88891261	16:g.88891261G>A	ClinGen:CA221040,UniProtKB:P34059#VAR_007228,OMIM:612222.0003	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp)	2588	GALNS	Pathogenic/Likely pathogenic	267606838	RCV000000750\|RCV003155036;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582	16	88893230	88893230	16:g.88893230C>T	ClinGen:CA251576,UniProtKB:P34059#VAR_024905,OMIM:612222.0018	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser)	2588	GALNS	Pathogenic/Likely pathogenic	118204446	RCV000000748\|RCV001193737;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582	16	88898473	88898473	16:g.88898473G>C	ClinGen:CA339831,UniProtKB:P34059#VAR_007218,OMIM:612222.0013	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.899-2A>C	2588	GALNS	Pathogenic/Likely pathogenic	1165218506	RCV001214626;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898511	88898511	16:g.88898511T>G	-
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe)	2588	GALNS	Pathogenic/Likely pathogenic	149239881	RCV000623443\|RCV001235768;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901635	88901635	16:g.88901635G>A	ClinGen:CA8234948	C0950123 Inborn genetic diseases;
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr)	2588	GALNS	Pathogenic/Likely pathogenic	118204448	RCV000000742\|RCV003234884;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582	16	88901648	88901648	16:g.88901648C>T	ClinGen:CA251570,UniProtKB:P34059#VAR_007214,OMIM:612222.0015	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.868G>A (p.Gly290Ser)	2588	GALNS	Pathogenic/Likely pathogenic	975409254	RCV001578530\|RCV002271645;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582	16	88901651	88901651	88901651	-
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del)	2588	GALNS	Pathogenic/Likely pathogenic	768664270	RCV001685351\|RCV001578525\|RCV003388001;	N	MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582	16	88901664	88901666	88901663	-
NM_000512.5(GALNS):c.817C>T (p.Gln273Ter)	2588	GALNS	Pathogenic/Likely pathogenic	2143001165	RCV001894189\|RCV003407849;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|	16	88901702	88901702	88901702	-
NM_000512.5(GALNS):c.751C>T (p.Arg251Ter)	2588	GALNS	Pathogenic/Likely pathogenic	1275386976	RCV001389838;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902140	88902140	88902140	-
NM_000512.5(GALNS):c.719A>G (p.Tyr240Cys)	2588	GALNS	Pathogenic/Likely pathogenic	752039956	RCV001578310;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902172	88902172	88902172	-
NM_000512.5(GALNS):c.704C>A (p.Thr235Lys)	2588	GALNS	Pathogenic/Likely pathogenic	398123440	RCV000179764\|RCV001578303;	N	MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902187	88902187	16:g.88902187G>T	ClinGen:CA221060,UniProtKB:P34059#VAR_071588	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn)	2588	GALNS	Pathogenic/Likely pathogenic	753051547	RCV001578302;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902194	88902194	88902194	-
NM_000512.5(GALNS):c.647T>C (p.Phe216Ser)	2588	GALNS	Pathogenic/Likely pathogenic	747805226	RCV001578571;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902244	88902244	88902244	-
NM_000512.5(GALNS):c.602G>A (p.Gly201Glu)	2588	GALNS	Pathogenic/Likely pathogenic	772413313	RCV001321220;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902640	88902640	88902640	-
NM_000512.5(GALNS):c.502G>A (p.Gly168Arg)	2588	GALNS	Pathogenic/Likely pathogenic	775732598	RCV000633457;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904094	88904094	NC_000016.9:g.88904094C>T	ClinGen:CA8235119	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.489del (p.Asn164fs)	2588	GALNS	Pathogenic/Likely pathogenic	1328983959	RCV000796738\|RCV001193734;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582	16	88904107	88904107	16:g.88904107_88904107del	-
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu)	2588	GALNS	Pathogenic/Likely pathogenic	1308500116	RCV000633459\|RCV002222567\|RCV003151799;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582\|MedGen:CN517202	16	88904130	88904130	16:g.88904130A>G	ClinGen:CA397083329	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg)	2588	GALNS	Pathogenic/Likely pathogenic	398123438	RCV000178783\|RCV001578563\|RCV002272058;	N	MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528, Orphanet:364526	16	88904133	88904133	16:g.88904133C>T	ClinGen:CA221057,UniProtKB:P34059#VAR_007193	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.454del (p.Pro151_Leu152insTer)	2588	GALNS	Pathogenic/Likely pathogenic	-1	RCV002614535;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904142	88904142	NC_000016.9:g.88904146del	-
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu)	2588	GALNS	Pathogenic/Likely pathogenic	559063128	RCV001093710;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904144	88904144	16:g.88904144G>A	-
NM_000512.5(GALNS):c.451C>A (p.Pro151Thr)	2588	GALNS	Pathogenic/Likely pathogenic	781439830	RCV000374370\|RCV003323515;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582	16	88904145	88904145	NC_000016.9:g.88904145G>T	ClinVar:998033,ClinGen:CA8235133	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu)	2588	GALNS	Pathogenic/Likely pathogenic	746949976	RCV001095388;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907448	88907448	16:g.88907448G>A	-
NM_000512.5(GALNS):c.347G>T (p.Gly116Val)	2588	GALNS	Pathogenic/Likely pathogenic	1966945369	RCV001578374;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907475	88907475	88907475	-
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe)	2588	GALNS	Pathogenic/Likely pathogenic	118204438	RCV000000738\|RCV000295527\|RCV000723431;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582\|MedGen:CN517202	16	88907485	88907485	16:g.88907485T>A	UniProtKB:P34059#VAR_007185,OMIM:612222.0005,ClinGen:CA339830	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.319+2T>C	2588	GALNS	Pathogenic/Likely pathogenic	2143005067	RCV001578291;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908303	88908303	88908303	-
NM_000512.5(GALNS):c.319G>A (p.Ala107Thr)	2588	GALNS	Pathogenic/Likely pathogenic	763184657	RCV001578288\|RCV003331129;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582	16	88908305	88908305	88908305	-
NM_000512.5(GALNS):c.281G>T (p.Arg94Leu)	2588	GALNS	Pathogenic/Likely pathogenic	727503946	RCV001578280\|RCV003323865;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582	16	88908343	88908343	88908343	-
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys)	2588	GALNS	Pathogenic/Likely pathogenic	118204441	RCV000806517;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908344	88908344	16:g.88908344G>A	-
NM_000512.5(GALNS):c.239C>T (p.Ser80Leu)	2588	GALNS	Pathogenic/Likely pathogenic	1209154325	RCV000622775\|RCV001193736\|RCV001578493\|RCV003420080;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|	16	88909119	88909119	NC_000016.9:g.88909119G>A	ClinGen:CA397091149	C0950123 Inborn genetic diseases;
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg)	2588	GALNS	Pathogenic/Likely pathogenic	1478665723	RCV001093713;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909123	88909123	16:g.88909123A>G	-
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)	2588	GALNS	Pathogenic/Likely pathogenic	1422505598	RCV001062057\|RCV003235459;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88909128	88909128	16:g.88909128G>C	-
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp)	2588	GALNS	Pathogenic/Likely pathogenic	145798311	RCV000420201\|RCV000633462\|RCV002230025;	N	MedGen:CN517202\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582	16	88909177	88909177	16:g.88909177G>A	ClinGen:CA8235266	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.143T>G (p.Val48Gly)	2588	GALNS	Pathogenic/Likely pathogenic	191519947	RCV001578362\|RCV001732134;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582	16	88909215	88909215	88909215	-
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg)	2588	GALNS	Pathogenic/Likely pathogenic	199638097	RCV000274769\|RCV000818831\|RCV001193130;	N	MedGen:CN517202\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582	16	88909219	88909219	NC_000016.9:g.88909219C>T	ClinGen:CA8235279,UniProtKB:P34059#VAR_007172	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NC_000016.10:g.(?_88814419)_(88856897_?)del	2588	GALNS	Pathogenic	-1	RCV000633468;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880827	88923305		-	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.1473G>A (p.Trp491Ter)	2588	GALNS	Pathogenic	-1	RCV002843728;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884424	88884424	NC_000016.9:g.88884424C>T	-
NM_000512.5(GALNS):c.1420C>T (p.Gln474Ter)	2588	GALNS	Pathogenic	1330564240	RCV001578339;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884477	88884477	88884477	-
NM_000512.5(GALNS):c.1417C>T (p.Gln473Ter)	2588	GALNS	Pathogenic	118204439	RCV000000739;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884480	88884480	16:g.88884480G>A	ClinGen:CA251566,OMIM:612222.0006	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.1365-1G>C	2588	GALNS	Pathogenic	1909832718	RCV001332505;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884533	88884533	88884533	-
NC_000016.10:g.(?_88822569)_(88842849_?)del	2588	GALNS	Pathogenic	-1	RCV001032146;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88888977	88909257	-1	-
NM_000512.5(GALNS):c.1364+1G>A	2588	GALNS	Pathogenic	773746427	RCV000799902;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88888996	88888996	16:g.88888996C>T	-
NM_000512.5(GALNS):c.1319del (p.Leu440fs)	2588	GALNS	Pathogenic	1567517083	RCV001578608;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889042	88889042	88889041	OMIM:612222.0017
NM_000512.5(GALNS):c.1279del (p.Val427fs)	2588	GALNS	Pathogenic	2142992372	RCV001380332;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889082	88889082	88889081	-
NM_000512.5(GALNS):c.1264C>T (p.Gln422Ter)	2588	GALNS	Pathogenic	1295162107	RCV001578605;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889097	88889097	88889097	-
NM_000512.5(GALNS):c.1259del (p.Pro420fs)	2588	GALNS	Pathogenic	2142992407	RCV001578457;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889102	88889102	88889101	-
NM_000512.5(GALNS):c.1241dup (p.Ile416fs)	2588	GALNS	Pathogenic	1910631809	RCV001093707;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891175	88891176	16:g.88891175_88891176insT	-
NM_000512.5(GALNS):c.1240C>T (p.Gln414Ter)	2588	GALNS	Pathogenic	757870208	RCV001358674;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891177	88891177	88891177	-
NM_000512.5(GALNS):c.1209G>A (p.Trp403Ter)	2588	GALNS	Pathogenic	2142993804	RCV001783342;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891208	88891208	88891208	-
NM_000512.5(GALNS):c.1192del (p.His398fs)	2588	GALNS	Pathogenic	1910636198	RCV001053095;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891225	88891225	16:g.88891225_88891225del	-
NM_000512.5(GALNS):c.1177_1178insT (p.Ala393fs)	2588	GALNS	Pathogenic	2142993846	RCV001578424;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891239	88891240	88891239	-
NM_000512.5(GALNS):c.1175C>T (p.Ala392Val)	2588	GALNS	Pathogenic	398123430	RCV000174007\|RCV001578422;	N	MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891242	88891242	16:g.88891242G>A	ClinGen:CA221042,UniProtKB:P34059#VAR_024915	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.1171A>G (p.Met391Val)	2588	GALNS	Pathogenic	398123429	RCV000174006\|RCV001201184\|RCV001389836;	N	MedGen:C3661900\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891246	88891246	16:g.88891246T>C	ClinGen:CA221041,UniProtKB:P34059#VAR_007229	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.1168del (p.Thr389_Leu390insTer)	2588	GALNS	Pathogenic	2142993865	RCV001578421;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891249	88891249	88891248	-
NM_000512.5(GALNS):c.1142del (p.Pro381fs)	2588	GALNS	Pathogenic	746086649	RCV001578330\|RCV002222703;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582	16	88891275	88891275	88891274	-
NC_000016.10:g.(?_88826682)_(88826858_?)del	2588	GALNS	Pathogenic	-1	RCV001031066;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893090	88893266	-1	-
NM_000512.5(GALNS):c.1139+1G>A	2588	GALNS	Pathogenic	765608680	RCV001207376;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893109	88893109	16:g.88893109C>T	-
NM_000512.5(GALNS):c.1120C>T (p.Gln374Ter)	2588	GALNS	Pathogenic	761455237	RCV001578602;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893129	88893129	88893129	-
NM_000512.5(GALNS):c.1114del (p.Leu372fs)	2588	GALNS	Pathogenic	2142995760	RCV001578601;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893135	88893135	88893134	-
NM_000512.5(GALNS):c.1023C>A (p.Ser341Arg)	2588	GALNS	Pathogenic	-1	RCV002903566;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893226	88893226	NC_000016.9:g.88893226G>T	-
NM_000512.5(GALNS):c.1012C>T (p.Gln338Ter)	2588	GALNS	Pathogenic	767131589	RCV001358675;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893237	88893237	88893237	-
NM_000512.5(GALNS):c.899-397_1003-1862del	2588	GALNS	Pathogenic	-1	RCV001578587;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88895108	88898906	88895107	-
NM_000512.5(GALNS):c.1000C>T (p.Gln334Ter)	2588	GALNS	Pathogenic	1567526805	RCV000760156;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898408	88898408	NC_000016.9:g.88898408G>A	-
NM_000512.5(GALNS):c.974G>A (p.Trp325Ter)	2588	GALNS	Pathogenic	2142999142	RCV001578416;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898434	88898434	88898434	-
NM_000512.5(GALNS):c.953T>G (p.Met318Arg)	2588	GALNS	Pathogenic	746756997	RCV000180514\|RCV000624404\|RCV001193735\|RCV001389837;	N	MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898455	88898455	16:g.88898455A>C	ClinGen:CA275446,UniProtKB:P34059#VAR_007219	C0950123 Inborn genetic diseases;
NM_000512.5(GALNS):c.952A>G (p.Met318Val)	2588	GALNS	Pathogenic	537013895	RCV000626204;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898456	88898456	16:g.88898456T>C	ClinGen:CA397101204	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys)	2588	GALNS	Pathogenic	118204443	RCV000000743\|RCV000781400\|RCV000790840;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582\|MedGen:C3661900	16	88898507	88898507	NC_000016.9:g.88898507C>A	UniProtKB:P34059#VAR_007216,OMIM:612222.0010,ClinGen:CA221063	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NC_000016.10:g.88832102del	2588	GALNS	Pathogenic	2142999219	RCV001883680;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898509	88898509		-
NM_000512.5(GALNS):c.899-1G>C	2588	GALNS	Pathogenic	745523154	RCV001578585\|RCV002509670;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582	16	88898510	88898510	88898510	-
NM_000512.5(GALNS):c.898+1G>A	2588	GALNS	Pathogenic	761850746	RCV000633461;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901620	88901620	16:g.88901620C>T	ClinGen:CA8234943	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.892G>T (p.Glu298Ter)	2588	GALNS	Pathogenic	767319971	RCV002000222;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901627	88901627	88901627	-
NM_000512.5(GALNS):c.874del (p.Ala292fs)	2588	GALNS	Pathogenic	2143001121	RCV001578580;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901645	88901645	88901644	-
NM_000512.5(GALNS):c.841_867del (p.Thr281_Asn289del)	2588	GALNS	Pathogenic	1567530426	RCV001578523;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901652	88901678	88901651	-
NM_000512.5(GALNS):c.863del (p.Asp288fs)	2588	GALNS	Pathogenic	2143001135	RCV001578524;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901656	88901656	88901655	-
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu)	2588	GALNS	Pathogenic	770053354	RCV000255770\|RCV000701162;	N	MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901659	88901659	16:g.88901659G>A	ClinGen:CA8234955,UniProtKB:P34059#VAR_007211	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.758+1G>C	2588	GALNS	Pathogenic	1363382746	RCV001578395;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902132	88902132	88902132	-
NM_000512.5(GALNS):c.758+1G>A	2588	GALNS	Pathogenic	1363382746	RCV001958921;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902132	88902132	88902132	-
NM_000512.5(GALNS):c.711_714dup (p.Val239fs)	2588	GALNS	Pathogenic	2143001391	RCV001389049;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902176	88902177	88902176	-
NM_000512.5(GALNS):c.708del (p.His236fs)	2588	GALNS	Pathogenic	2143001400	RCV001578308;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902183	88902183	88902182	-
NM_000512.5(GALNS):c.689G>A (p.Trp230Ter)	2588	GALNS	Pathogenic	118204449	RCV000000746\|RCV001193132;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582	16	88902202	88902202	16:g.88902202C>T	ClinGen:CA251573,OMIM:612222.0016	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.675dup (p.Phe226fs)	2588	GALNS	Pathogenic	-1	RCV002943063;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902215	88902216	NC_000016.9:g.88902219dup	-
NM_000512.5(GALNS):c.651_652insG (p.Lys218fs)	2588	GALNS	Pathogenic	1468285336	RCV001578572;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902239	88902240	88902239	-
NM_000512.5(GALNS):c.631C>T (p.Gln211Ter)	2588	GALNS	Pathogenic	1912124497	RCV001578567;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902611	88902611	88902611	-
NM_000512.5(GALNS):c.627C>G (p.Tyr209Ter)	2588	GALNS	Pathogenic	2143001706	RCV001578566;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902615	88902615	88902615	-
NM_000512.5(GALNS):c.604del (p.Glu202fs)	2588	GALNS	Pathogenic	1382823339	RCV001384617;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902638	88902638	88902637	-
NM_000512.5(GALNS):c.567-1G>T	2588	GALNS	Pathogenic	143428106	RCV001578515;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902676	88902676	88902676	-
NC_000016.10:g.(?_88837602)_(88842849_?)del	2588	GALNS	Pathogenic	-1	RCV001032477;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904010	88909257	-1	-
NM_000512.5(GALNS):c.551G>A (p.Trp184Ter)	2588	GALNS	Pathogenic	779545826	RCV001578392;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904045	88904045	88904045	-
NM_000512.5(GALNS):c.493_531del (p.Cys165_Asn177del)	2588	GALNS	Pathogenic	-1	RCV003047594;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904065	88904103	NC_000016.9:g.88904071_88904109del	-
NM_000512.5(GALNS):c.498del (p.Phe167fs)	2588	GALNS	Pathogenic	772656696	RCV000781399\|RCV000801546\|RCV003238209;	N	MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:CN517202	16	88904098	88904098	NC_000016.9:g.88904098del	-
NM_000512.5(GALNS):c.485C>T (p.Ser162Phe)	2588	GALNS	Pathogenic	118204444	RCV000000744\|RCV000723452;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:CN517202	16	88904111	88904111	16:g.88904111G>A	ClinGen:CA251571,UniProtKB:P34059#VAR_024891,OMIM:612222.0011	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.485C>A (p.Ser162Tyr)	2588	GALNS	Pathogenic	-1	RCV003030563;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904111	88904111	NC_000016.9:g.88904111G>T	-
NM_000512.5(GALNS):c.477G>A (p.Trp159Ter)	2588	GALNS	Pathogenic	398123439	RCV000178782\|RCV000790674;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:CN517202	16	88904119	88904119	NC_000016.9:g.88904119C>T	ClinGen:CA221058	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.472G>T (p.Glu158Ter)	2588	GALNS	Pathogenic	2143002428	RCV002251196;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904124	88904124	88904124	-
NM_000512.5(GALNS):c.442C>T (p.Gln148Ter)	2588	GALNS	Pathogenic	2143002464	RCV001578559;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904154	88904154	88904154	-
NM_000512.5(GALNS):c.423-11_425del	2588	GALNS	Pathogenic	-1	RCV003312991;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904171	88904184		-
NC_000016.10:g.(?_88840972)_(88842849_?)del	2588	GALNS	Pathogenic	-1	RCV000811352;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907380	88909257		-
NM_000512.5(GALNS):c.422+2_422+8del	2588	GALNS	Pathogenic	764529662	RCV001578505;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907392	88907398	88907391	-
NM_000512.5(GALNS):c.405_422+1del	2588	GALNS	Pathogenic	398123437	RCV000592916\|RCV001382243;	N	MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907399	88907417	16:g.88907399_88907417del	ClinGen:CA8235165	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.422G>A (p.Trp141Ter)	2588	GALNS	Pathogenic	746862066	RCV001578503;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907400	88907400	88907400	-
NM_000512.5(GALNS):c.415G>A (p.Gly139Ser)	2588	GALNS	Pathogenic	146093755	RCV000254865\|RCV000691262\|RCV003230469;	N	MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582	16	88907407	88907407	16:g.88907407C>T	ClinGen:CA8235170,UniProtKB:P34059#VAR_007189	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.376G>T (p.Glu126Ter)	2588	GALNS	Pathogenic	1177468816	RCV001578376;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907446	88907446	88907446	-
NM_000512.5(GALNS):c.374del (p.Pro125fs)	2588	GALNS	Pathogenic	-1	RCV002291514;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907448	88907448	88907447	-
NM_000512.5(GALNS):c.346G>A (p.Gly116Ser)	2588	GALNS	Pathogenic	1444754604	RCV001193131\|RCV001578373;	N	MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907476	88907476	16:g.88907476C>T	-
NM_000512.5(GALNS):c.334del (p.Glu112fs)	2588	GALNS	Pathogenic	2143004665	RCV001578372;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907488	88907488	88907487	-
NM_000512.5(GALNS):c.331C>T (p.Gln111Ter)	2588	GALNS	Pathogenic	200374326	RCV000690516\|RCV001193733;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582	16	88907491	88907491	NC_000016.9:g.88907491G>A	-	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.320-1G>C	2588	GALNS	Pathogenic	1245504167	RCV001783343;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907503	88907503	88907503	-
NM_000512.5(GALNS):c.320-1G>T	2588	GALNS	Pathogenic	1245504167	RCV001377627;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907503	88907503	88907503	-
NM_000512.5(GALNS):c.268C>T (p.Arg90Trp)	2588	GALNS	Pathogenic	1028668536	RCV000624508\|RCV000763388\|RCV003128664;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:CN517202	16	88908356	88908356	16:g.88908356G>A	ClinGen:CA286406375	C0950123 Inborn genetic diseases;
NM_000512.5(GALNS):c.244+1G>T	2588	GALNS	Pathogenic	2143005452	RCV001578497;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909113	88909113	88909113	-
NM_000512.5(GALNS):c.235_236del (p.Cys79fs)	2588	GALNS	Pathogenic	2143005467	RCV001578491;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909122	88909123	88909121	-
NM_000512.5(GALNS):c.228C>A (p.Asn76Lys)	2588	GALNS	Pathogenic	147599478	RCV001386760;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909130	88909130	88909130	-
NM_000512.5(GALNS):c.187G>C (p.Ala63Pro)	2588	GALNS	Pathogenic	-1	RCV003318423;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909171	88909171		-
NM_000512.5(GALNS):c.121-1G>A	2588	GALNS	Pathogenic	1312522259	RCV001578478;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909238	88909238	88909238	-
NM_000512.5(GALNS):c.121-1G>T	2588	GALNS	Pathogenic	1312522259	RCV001963270;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909238	88909238	88909238	-
NM_000512.5(GALNS):c.121-2A>G	2588	GALNS	Pathogenic	1567538216	RCV000693803;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909239	88909239	NC_000016.9:g.88909239T>C	-	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NC_000016.10:g.(?_88856738)_(88856897_?)del	2588	GALNS	Pathogenic	-1	RCV000633469;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923146	88923305		-	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NC_000016.9:g.(?_88923146)_(88923285_?)del	2588	GALNS	Pathogenic	-1	RCV001956310;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923146	88923285	-1	-
NM_000512.5(GALNS):c.120+1G>C	2588	GALNS	Pathogenic	911877265	RCV001051438;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923165	88923165	16:g.88923165C>G	-
NM_000512.5(GALNS):c.120+1G>A	2588	GALNS	Pathogenic	911877265	RCV001578473;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923165	88923165	88923165	-
NM_000512.5(GALNS):c.118G>C (p.Asp40His)	2588	GALNS	Pathogenic	1967935603	RCV001051437;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923168	88923168	16:g.88923168C>G	-
NM_000512.5(GALNS):c.115_116del (p.Asp39fs)	2588	GALNS	Pathogenic	1967936031	RCV001970060;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923170	88923171	88923169	-
NM_000512.5(GALNS):c.85C>T (p.Gln29Ter)	2588	GALNS	Pathogenic	1287332192	RCV001578353;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923201	88923201	88923201	-
NM_000512.5(GALNS):c.29G>A (p.Trp10Ter)	2588	GALNS	Pathogenic	1967945316	RCV001543344;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923257	88923257	88923257	-
NM_000512.5(GALNS):c.1A>T (p.Met1Leu)	2588	GALNS	Pathogenic	771531650	RCV002002426;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923285	88923285	88923285	-
NM_000512.5(GALNS):c.1567T>G (p.Ter523Glu)	2588	GALNS	Likely pathogenic	1348149236	RCV001578464;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880849	88880849	88880849	-
NM_000512.5(GALNS):c.1507_1508del (p.Lys503fs)	2588	GALNS	Likely pathogenic	753053516	RCV001578447;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880908	88880909	88880907	-
NM_000512.5(GALNS):c.1502G>A (p.Cys501Tyr)	2588	GALNS	Likely pathogenic	948490589	RCV000625916;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880914	88880914	NC_000016.9:g.88880914C>T	ClinGen:CA286432122	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.1487G>C (p.Trp496Ser)	2588	GALNS	Likely pathogenic	-1	RCV003022304;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880929	88880929	NC_000016.9:g.88880929C>G	-
NM_000512.5(GALNS):c.1483-1G>C	2588	GALNS	Likely pathogenic	1223848239	RCV001578438;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880934	88880934	88880934	-
NM_000512.5(GALNS):c.1483-1G>A	2588	GALNS	Likely pathogenic	1223848239	RCV001578439;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880934	88880934	88880934	-
NM_000512.5(GALNS):c.1483-2A>G	2588	GALNS	Likely pathogenic	2142967340	RCV001578437;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880935	88880935	88880935	-
NM_000512.5(GALNS):c.1483-2A>C	2588	GALNS	Likely pathogenic	-1	RCV003222545;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880935	88880935		-
NC_000016.9:g.(?_88884395)_(88884552_?)del	2588	GALNS	Likely pathogenic	-1	RCV001379364;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884395	88884552	-1	-
NM_000512.5(GALNS):c.1447C>T (p.Gln483Ter)	2588	GALNS	Likely pathogenic	2142982313	RCV001578342;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884450	88884450	88884450	-
NM_000512.5(GALNS):c.1445C>T (p.Ala482Val)	2588	GALNS	Likely pathogenic	1909820489	RCV002227905;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884452	88884452	88884452	-
NM_000512.5(GALNS):c.1387G>T (p.Glu463Ter)	2588	GALNS	Likely pathogenic	-1	RCV003388659;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884510	88884510		-
NM_000512.5(GALNS):c.1374dup (p.Ala459fs)	2588	GALNS	Likely pathogenic	-1	RCV003444401;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884522	88884523		-
NM_000512.5(GALNS):c.1365-1G>A	2588	GALNS	Likely pathogenic	1909832718	RCV001578617;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884533	88884533	88884533	-
NM_000512.5(GALNS):c.1355dup (p.Leu454fs)	2588	GALNS	Likely pathogenic	1472489567	RCV001578614;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889005	88889006	88889005	-
NM_000512.5(GALNS):c.1290_1291del (p.His430fs)	2588	GALNS	Likely pathogenic	2142992359	RCV001578607;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889070	88889071	88889069	OMIM:612222.0004
NM_000512.5(GALNS):c.1275del (p.Val427fs)	2588	GALNS	Likely pathogenic	2142992383	RCV001578606;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889086	88889086	88889085	-
NM_000512.5(GALNS):c.1243-1G>C	2588	GALNS	Likely pathogenic	1597535277	RCV001578454;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889119	88889119	88889119	-
NM_000512.5(GALNS):c.1243-1G>A	2588	GALNS	Likely pathogenic	1597535277	RCV001578453;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889119	88889119	88889119	-
NM_000512.5(GALNS):c.1243-2A>C	2588	GALNS	Likely pathogenic	2142992422	RCV002249051;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889120	88889120	88889120	-
NM_000512.5(GALNS):c.1242+1G>T	2588	GALNS	Likely pathogenic	2142993764	RCV002003611;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891174	88891174	88891174	-
NM_000512.5(GALNS):c.1242+1G>C	2588	GALNS	Likely pathogenic	-1	RCV003046821;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891174	88891174	NC_000016.9:g.88891174C>G	-
NM_000512.5(GALNS):c.1215G>A (p.Trp405Ter)	2588	GALNS	Likely pathogenic	2142993793	RCV001578449;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891202	88891202	88891202	-
NM_000512.5(GALNS):c.1214G>A (p.Trp405Ter)	2588	GALNS	Likely pathogenic	2142993795	RCV001578448;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891203	88891203	88891203	-
NM_000512.5(GALNS):c.1196del (p.Lys399fs)	2588	GALNS	Likely pathogenic	2142993816	RCV001578430;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891221	88891221	88891220	-
NM_000512.5(GALNS):c.1196A>C (p.Lys399Thr)	2588	GALNS	Likely pathogenic	1267791852	RCV002004157;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891221	88891221	88891221	-
NM_000512.5(GALNS):c.1188del (p.Gln397fs)	2588	GALNS	Likely pathogenic	2142993827	RCV001578428;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891229	88891229	88891228	-
NM_000512.5(GALNS):c.1162G>A (p.Asp388Asn)	2588	GALNS	Likely pathogenic	373739301	RCV001578336;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891255	88891255	88891255	-
NM_000512.5(GALNS):c.1155C>A (p.Tyr385Ter)	2588	GALNS	Likely pathogenic	1426905479	RCV001578332;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891262	88891262	88891262	-
NC_000016.9:g.(?_88893090)_(88904193_?)del	2588	GALNS	Likely pathogenic	-1	RCV001379365;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893090	88904193	-1	-
NM_000512.5(GALNS):c.1070del (p.Pro357fs)	2588	GALNS	Likely pathogenic	2142995810	RCV001578596;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893179	88893179	88893178	-
NM_000512.5(GALNS):c.1049T>C (p.Leu350Pro)	2588	GALNS	Likely pathogenic	1910973930	RCV001093709;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893200	88893200	16:g.88893200A>G	-
NM_000512.5(GALNS):c.1046del (p.Ser349fs)	2588	GALNS	Likely pathogenic	2142995845	RCV001578592;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893203	88893203	88893202	-
NM_000512.5(GALNS):c.1023C>G (p.Ser341Arg)	2588	GALNS	Likely pathogenic	2142995871	RCV001578537;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893226	88893226	88893226	-
NM_000512.5(GALNS):c.1021A>C (p.Ser341Arg)	2588	GALNS	Likely pathogenic	-1	RCV003145782;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893228	88893228	NC_000016.9:g.88893228T>G	-
NM_000512.5(GALNS):c.1009del (p.His337fs)	2588	GALNS	Likely pathogenic	2142995881	RCV001578536;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893240	88893240	88893239	-
NM_000512.5(GALNS):c.1003-2A>C	2588	GALNS	Likely pathogenic	1344555845	RCV001578535;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893248	88893248	88893248	-
NM_000512.5(GALNS):c.1003-1570G>T	2588	GALNS	Likely pathogenic	2142996885	RCV001844799;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88894816	88894816	88894816	-
NM_000512.5(GALNS):c.978G>A (p.Trp326Ter)	2588	GALNS	Likely pathogenic	1911558912	RCV001578420;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898430	88898430	88898430	-
NM_000512.5(GALNS):c.951dup (p.Met318fs)	2588	GALNS	Likely pathogenic	2142999166	RCV001578412;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898456	88898457	88898456	-
NM_000512.5(GALNS):c.934A>G (p.Thr312Ala)	2588	GALNS	Likely pathogenic	2142999186	RCV001578321;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898474	88898474	88898474	-
NM_000512.5(GALNS):c.902G>A (p.Gly301Asp)	2588	GALNS	Likely pathogenic	776715466	RCV002023736;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898506	88898506	88898506	-
NM_000512.5(GALNS):c.899-2A>G	2588	GALNS	Likely pathogenic	1165218506	RCV000781398\|RCV001578586;	N	MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898511	88898511	NC_000016.9:g.88898511T>C	-
NM_000512.5(GALNS):c.898+1G>C	2588	GALNS	Likely pathogenic	761850746	RCV000210353;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901620	88901620	16:g.88901620C>G	ClinGen:CA357205	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.895C>T (p.Gln299Ter)	2588	GALNS	Likely pathogenic	2143001103	RCV001578582;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901624	88901624	88901624	-
NM_000512.5(GALNS):c.866A>G (p.Asn289Ser)	2588	GALNS	Likely pathogenic	1465096387	RCV001578528;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901653	88901653	88901653	-
NM_000512.5(GALNS):c.835del (p.Asp279fs)	2588	GALNS	Likely pathogenic	-1	RCV002508751;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901684	88901684	NC_000016.9:g.88901685del	-
NM_000512.5(GALNS):c.791G>A (p.Ser264Asn)	2588	GALNS	Likely pathogenic	2143001182	RCV002227893;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901728	88901728	88901728	-
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln)	2588	GALNS	Likely pathogenic	118204442	RCV000000741;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901743	88901743	16:g.88901743C>T	ClinGen:CA251569,UniProtKB:P34059#VAR_007208,OMIM:612222.0009	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.764G>C (p.Gly255Ala)	2588	GALNS	Likely pathogenic	1912009292	RCV001093711;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901755	88901755	16:g.88901755C>G	-
NM_000512.5(GALNS):c.762T>A (p.Tyr254Ter)	2588	GALNS	Likely pathogenic	770815269	RCV001578400;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901757	88901757	88901757	-
NM_000512.5(GALNS):c.759-2A>G	2588	GALNS	Likely pathogenic	2143001213	RCV001578398;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901762	88901762	88901762	-
NM_000512.5(GALNS):c.752G>A (p.Arg251Gln)	2588	GALNS	Likely pathogenic	1199639828	RCV001578313;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902139	88902139	88902139	-
NM_000512.5(GALNS):c.707A>C (p.His236Pro)	2588	GALNS	Likely pathogenic	398123441	RCV001578307;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902184	88902184	88902184	-
NM_000512.5(GALNS):c.706C>T (p.His236Tyr)	2588	GALNS	Likely pathogenic	1228027865	RCV001578305;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902185	88902185	88902185	-
NM_000512.5(GALNS):c.680del (p.Phe227fs)	2588	GALNS	Likely pathogenic	2143001415	RCV001578575;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902211	88902211	88902210	-
NM_000512.5(GALNS):c.679T>G (p.Phe227Val)	2588	GALNS	Likely pathogenic	2143001417	RCV001379250;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902212	88902212	88902212	-
NM_000512.5(GALNS):c.675_676del (p.Phe227fs)	2588	GALNS	Likely pathogenic	2143001422	RCV001782169;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902215	88902216	88902214	-
NM_000512.5(GALNS):c.658C>T (p.Gln220Ter)	2588	GALNS	Likely pathogenic	1456807949	RCV001578573;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902233	88902233	88902233	-
NM_000512.5(GALNS):c.648C>G (p.Phe216Leu)	2588	GALNS	Likely pathogenic	2143001453	RCV001973323;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902243	88902243	88902243	-
NM_000512.5(GALNS):c.634-1G>T	2588	GALNS	Likely pathogenic	2143001463	RCV001578569;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902258	88902258	88902258	-
NM_000512.5(GALNS):c.634-1G>A	2588	GALNS	Likely pathogenic	2143001463	RCV001578568;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902258	88902258	88902258	-
NM_000512.5(GALNS):c.612C>G (p.Asn204Lys)	2588	GALNS	Likely pathogenic	118204435	RCV000000733;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902630	88902630	16:g.88902630G>C	OMIM:612222.0001,ClinGen:CA251563,UniProtKB:P34059#VAR_007203	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.611A>C (p.Asn204Thr)	2588	GALNS	Likely pathogenic	569725936	RCV001578520;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902631	88902631	88902631	-
NM_000512.5(GALNS):c.424_566+1del	2588	GALNS	Likely pathogenic	2143002309	RCV001578508;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904029	88904172	88904028	-
NM_000512.5(GALNS):c.554del (p.Glu185fs)	2588	GALNS	Likely pathogenic	2143002326	RCV001578510;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904042	88904042	88904041	-
NM_000512.5(GALNS):c.532_533del (p.Ile178fs)	2588	GALNS	Likely pathogenic	2143002345	RCV001578387;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904063	88904064	88904062	-
NM_000512.5(GALNS):c.502G>T (p.Gly168Ter)	2588	GALNS	Likely pathogenic	775732598	RCV001578381;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904094	88904094	88904094	-
NM_000512.5(GALNS):c.501dup (p.Gly168fs)	2588	GALNS	Likely pathogenic	2143002383	RCV001578300;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904094	88904095	88904094	-
NM_000512.5(GALNS):c.494G>A (p.Cys165Tyr)	2588	GALNS	Likely pathogenic	768757999	RCV001578298;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904102	88904102	88904102	-
NM_000512.5(GALNS):c.473_477del (p.Glu158fs)	2588	GALNS	Likely pathogenic	2143002427	RCV001578293;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904119	88904123	88904118	-
NM_000512.5(GALNS):c.444_449del (p.Gln148_Phe149del)	2588	GALNS	Likely pathogenic	2143002451	RCV001619759;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904147	88904152	88904146	-
NM_000512.5(GALNS):c.433C>T (p.His145Tyr)	2588	GALNS	Likely pathogenic	577334837	RCV001578558;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904163	88904163	88904163	-
NM_000512.5(GALNS):c.425A>T (p.His142Leu)	2588	GALNS	Likely pathogenic	1288895691	RCV001037304;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904171	88904171	16:g.88904171T>A	-
NM_000512.5(GALNS):c.425A>C (p.His142Pro)	2588	GALNS	Likely pathogenic	1288895691	RCV001578556;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904171	88904171	88904171	-
NM_000512.5(GALNS):c.423-1G>A	2588	GALNS	Likely pathogenic	2143002474	RCV001578507;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904174	88904174	88904174	-
NM_000512.5(GALNS):c.423-862C>T	2588	GALNS	Likely pathogenic	1597575641	RCV000985199;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88905035	88905035	16:g.88905035G>A	-
NM_000512.5(GALNS):c.409_422+5del	2588	GALNS	Likely pathogenic	2143004580	RCV001578501;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907395	88907413	88907394	-
NM_000512.5(GALNS):c.422+2T>G	2588	GALNS	Likely pathogenic	2143004585	RCV001376895;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907398	88907398	88907398	-
NM_000512.5(GALNS):c.422+1G>A	2588	GALNS	Likely pathogenic	1966940003	RCV001578504;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907399	88907399	88907399	-
NM_000512.5(GALNS):c.422+1G>T	2588	GALNS	Likely pathogenic	1966940003	RCV001377054;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907399	88907399	88907399	-
NM_000512.5(GALNS):c.409_420del (p.Ile137_Lys140del)	2588	GALNS	Likely pathogenic	2143004592	RCV001578500;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907402	88907413	88907401	-
NM_000512.5(GALNS):c.385A>T (p.Lys129Ter)	2588	GALNS	Likely pathogenic	2143004624	RCV001578377;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907437	88907437	88907437	-
NM_000512.5(GALNS):c.338T>C (p.Ile113Thr)	2588	GALNS	Likely pathogenic	979373729	RCV002021121;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907484	88907484	88907484	-
NM_000512.5(GALNS):c.285dup (p.Gly96fs)	2588	GALNS	Likely pathogenic	-1	RCV003326686;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908338	88908339		-
NM_000512.5(GALNS):c.280C>G (p.Arg94Gly)	2588	GALNS	Likely pathogenic	118204441	RCV000000740;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908344	88908344	16:g.88908344G>C	OMIM:612222.0008,ClinGen:CA251568,UniProtKB:P34059#VAR_007180	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.265G>T (p.Gly89Ter)	2588	GALNS	Likely pathogenic	1160480473	RCV001578549;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908359	88908359	88908359	-
NM_000512.5(GALNS):c.245-2A>G	2588	GALNS	Likely pathogenic	1352162269	RCV001578543;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908381	88908381	88908381	-
NM_000512.5(GALNS):c.242C>T (p.Pro81Leu)	2588	GALNS	Likely pathogenic	2143005457	RCV001578495;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909116	88909116	88909116	-
NM_000512.5(GALNS):c.236G>A (p.Cys79Tyr)	2588	GALNS	Likely pathogenic	1263679818	RCV001578492;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909122	88909122	88909122	-
NM_000512.5(GALNS):c.178G>A (p.Asp60Asn)	2588	GALNS	Likely pathogenic	118204447	RCV000000749;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909180	88909180	16:g.88909180C>T	ClinGen:CA251575,UniProtKB:P34059#VAR_007173,OMIM:612222.0014	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.151G>A (p.Glu51Lys)	2588	GALNS	Likely pathogenic	1296755011	RCV001578364;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909207	88909207	88909207	-
NM_000512.5(GALNS):c.121A>T (p.Met41Leu)	2588	GALNS	Likely pathogenic	1283377907	RCV001578481;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909237	88909237	88909237	-
NM_000512.5(GALNS):c.121-1G>C	2588	GALNS	Likely pathogenic	1312522259	RCV001578479;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909238	88909238	88909238	-
NM_000512.5(GALNS):c.116A>G (p.Asp39Gly)	2588	GALNS	Likely pathogenic	1967935882	RCV001090039;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923170	88923170	16:g.88923170T>C	-
NM_000512.5(GALNS):c.107T>G (p.Leu36Arg)	2588	GALNS	Likely pathogenic	755832705	RCV000633458;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923179	88923179	NC_000016.9:g.88923179A>C	ClinGen:CA8235396	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.77dup (p.Ala27fs)	2588	GALNS	Likely pathogenic	2143013573	RCV001578352;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923208	88923209	88923208	-
NM_000512.5(GALNS):c.34C>T (p.Gln12Ter)	2588	GALNS	Likely pathogenic	911452920	RCV001578349;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923252	88923252	88923252	-
NM_000512.5(GALNS):c.1A>G (p.Met1Val)	2588	GALNS	Likely pathogenic	771531650	RCV001578347;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923285	88923285	88923285	-
NM_000512.5(GALNS):c.*656T>C	2588	GALNS	Uncertain significance	763539126	RCV001117376;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880191	88880191	16:g.88880191A>G	-
NM_000512.5(GALNS):c.*639T>G	2588	GALNS	Uncertain significance	1186947306	RCV001117378;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880208	88880208	16:g.88880208A>C	-
NM_000512.5(GALNS):c.*610G>T	2588	GALNS	Uncertain significance	755706847	RCV000265763;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880237	88880237	NC_000016.9:g.88880237C>A	ClinGen:CA10649275	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.*573A>G	2588	GALNS	Uncertain significance	551511278	RCV000299856;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880274	88880274	NC_000016.9:g.88880274T>C	ClinGen:CA10649276	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.*546C>T	2588	GALNS	Likely benign	114447455	RCV000357087;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880301	88880301	NC_000016.9:g.88880301G>A	ClinGen:CA10644572	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.*523G>A	2588	GALNS	Uncertain significance	181174683	RCV001118988;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880324	88880324	16:g.88880324C>T	-
NM_000512.5(GALNS):c.*520C>A	2588	GALNS	Uncertain significance	80125890	RCV001118990;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880327	88880327	16:g.88880327G>T	-
NM_000512.5(GALNS):c.*503T>G	2588	GALNS	Uncertain significance	573836350	RCV000317725;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880344	88880344	NC_000016.9:g.88880344A>C	ClinGen:CA10644581	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.*387T>G	2588	GALNS	Uncertain significance	1909377767	RCV001120958;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880460	88880460	16:g.88880460A>C	-
NM_000512.5(GALNS):c.*287T>C	2588	GALNS	Uncertain significance	776880179	RCV000330697\|RCV001120961;	N	MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880560	88880560	NC_000016.9:g.88880560A>G	ClinGen:CA10648341	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.*270T>C	2588	GALNS	Uncertain significance	1909389591	RCV001120962;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880577	88880577	16:g.88880577A>G	-
NM_000512.5(GALNS):c.*263T>C	2588	GALNS	Uncertain significance	886052451	RCV000387602;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880584	88880584	NC_000016.9:g.88880584A>G	ClinGen:CA10648347	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.*261T>G	2588	GALNS	Uncertain significance	915733731	RCV001120963;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880586	88880586	16:g.88880586A>C	-
NM_000512.5(GALNS):c.*236C>T	2588	GALNS	Conflicting interpretations of pathogenicity	189375208	RCV000290934\|RCV001116032\|RCV002254921;	N	MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88880611	88880611	NC_000016.9:g.88880611G>A	ClinGen:CA10649279	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.*197C>T	2588	GALNS	Uncertain significance	187469283	RCV001116035;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880650	88880650	16:g.88880650G>A	-
NM_000512.5(GALNS):c.*186C>G	2588	GALNS	Uncertain significance	1032068378	RCV001116036;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880661	88880661	16:g.88880661G>C	-
NM_000512.5(GALNS):c.*145C>T	2588	GALNS	Uncertain significance	539285988	RCV000288664;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880702	88880702	NC_000016.9:g.88880702G>A	ClinGen:CA10648352	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.*144T>C	2588	GALNS	Uncertain significance	1157099470	RCV001116037;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880703	88880703	16:g.88880703A>G	-
NM_000512.5(GALNS):c.*140C>A	2588	GALNS	Uncertain significance	557356503	RCV001116038;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880707	88880707	16:g.88880707G>T	-
NM_000512.5(GALNS):c.*123G>C	2588	GALNS	Uncertain significance	886052453	RCV000341328\|RCV001117485;	N	MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880724	88880724	NC_000016.9:g.88880724C>G	ClinGen:CA10648355	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.*95T>A	2588	GALNS	Uncertain significance	536448022	RCV000399076;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880752	88880752	16:g.88880752A>T	ClinGen:CA10648356	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.*86C>T	2588	GALNS	Uncertain significance	897826613	RCV001117486;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880761	88880761	16:g.88880761G>A	-
NM_000512.5(GALNS):c.*70T>C	2588	GALNS	Uncertain significance	933630786	RCV001117487;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880777	88880777	16:g.88880777A>G	-
NM_000512.5(GALNS):c.*29A>C	2588	GALNS	Uncertain significance	377151771	RCV001117489;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880818	88880818	16:g.88880818T>G	-
NM_000512.5(GALNS):c.*20C>G	2588	GALNS	Uncertain significance	886052454	RCV000341024;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880827	88880827	NC_000016.9:g.88880827G>C	ClinGen:CA10649280	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.*3C>G	2588	GALNS	Conflicting interpretations of pathogenicity	77826920	RCV000401004\|RCV000675525\|RCV001117490;	N	MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582\|MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880844	88880844	NC_000016.9:g.88880844G>C	ClinGen:CA8234632	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.1568A>G (p.Ter523Trp)	2588	GALNS	Uncertain significance	2142966615	RCV001578466;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880848	88880848	88880848	-
NM_000512.5(GALNS):c.1567T>C (p.Ter523Gln)	2588	GALNS	Uncertain significance	1348149236	RCV001578465;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880849	88880849	88880849	-
NM_000512.5(GALNS):c.1560G>A (p.Trp520Ter)	2588	GALNS	Uncertain significance	2142966686	RCV001578463;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880856	88880856	88880856	-
NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg)	2588	GALNS	Uncertain significance	398123434	RCV000079028\|RCV001578461;	N	MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880858	88880858	16:g.88880858A>G	ClinGen:CA221047	CN169374 not specified;
NM_000512.5(GALNS):c.1555C>T (p.Leu519Phe)	2588	GALNS	Uncertain significance	1597515354	RCV000817015;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880861	88880861	16:g.88880861G>A	-
NM_000512.5(GALNS):c.1551G>A (p.Lys517=)	2588	GALNS	Likely benign	148182125	RCV001497973;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880865	88880865	88880865	-
NM_000512.5(GALNS):c.1540A>G (p.Ile514Val)	2588	GALNS	Uncertain significance	201153945	RCV001119086;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880876	88880876	16:g.88880876T>C	-
NM_000512.5(GALNS):c.1531C>T (p.Pro511Ser)	2588	GALNS	Uncertain significance	-1	RCV003074716;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880885	88880885	NC_000016.9:g.88880885G>A	-
NM_000512.5(GALNS):c.1531C>G (p.Pro511Ala)	2588	GALNS	Uncertain significance	-1	RCV002908859;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880885	88880885	NC_000016.9:g.88880885G>C	-
NM_000512.5(GALNS):c.1523T>C (p.Leu508Pro)	2588	GALNS	Uncertain significance	2142967000	RCV001578460;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880893	88880893	88880893	-
NM_000512.5(GALNS):c.1520G>T (p.Cys507Phe)	2588	GALNS	Uncertain significance	398123433	RCV000079027\|RCV001543346;	N	MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880896	88880896	16:g.88880896C>A	ClinGen:CA221046,UniProtKB:P34059#VAR_071600	CN169374 not specified;
NM_000512.5(GALNS):c.1519T>C (p.Cys507Arg)	2588	GALNS	Uncertain significance	1567509070	RCV001543345;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880897	88880897	88880897	-
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser)	2588	GALNS	Conflicting interpretations of pathogenicity	948490589	RCV001578446;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880914	88880914	88880914	-
NM_000512.5(GALNS):c.1498G>T (p.Gly500Cys)	2588	GALNS	Uncertain significance	1303492021	RCV001578445;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880918	88880918	88880918	-
NM_000512.5(GALNS):c.1498G>A (p.Gly500Ser)	2588	GALNS	Uncertain significance	1303492021	RCV001578444;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880918	88880918	88880918	-
NM_000512.5(GALNS):c.1496C>T (p.Pro499Leu)	2588	GALNS	Uncertain significance	542835085	RCV001578443;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880920	88880920	88880920	-
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu)	2588	GALNS	Conflicting interpretations of pathogenicity	1597515555	RCV000989651;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880923	88880923	16:g.88880923G>A	-
NM_000512.5(GALNS):c.1492C>T (p.Pro498Ser)	2588	GALNS	Uncertain significance	1454253268	RCV001578442;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880924	88880924	88880924	-
NM_000512.5(GALNS):c.1488G>T (p.Trp496Cys)	2588	GALNS	Uncertain significance	1355113466	RCV001327049;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880928	88880928	88880928	-
NM_000512.5(GALNS):c.1485C>G (p.Asn495Lys)	2588	GALNS	Conflicting interpretations of pathogenicity	886039377	RCV000254830\|RCV001578441;	N	MedGen:CN517202\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880931	88880931	16:g.88880931G>C	ClinGen:CA10588631,UniProtKB:P34059#VAR_071598	CN517202 not provided;
NM_000512.5(GALNS):c.1483A>T (p.Asn495Tyr)	2588	GALNS	Conflicting interpretations of pathogenicity	1404888504	RCV001562127\|RCV001578440;	N	MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880933	88880933	88880933	-
NM_000512.5(GALNS):c.1483-15A>G	2588	GALNS	Conflicting interpretations of pathogenicity	1461992033	RCV001578436;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880948	88880948	88880948	-
NM_000512.5(GALNS):c.1483-19C>T	2588	GALNS	Likely benign	-1	RCV003047347;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880952	88880952	NC_000016.9:g.88880952G>A	-
NM_000512.5(GALNS):c.1483-32G>C	2588	GALNS	Benign	11076716	RCV000244625\|RCV000833549\|RCV001800626;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88880965	88880965	NC_000016.9:g.88880965C>G	ClinGen:CA8234645	CN169374 not specified;
NM_000512.5(GALNS):c.1482+5G>A	2588	GALNS	Uncertain significance	2142982032	RCV001578435;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884410	88884410	88884410	-
NM_000512.5(GALNS):c.1482+4A>G	2588	GALNS	Uncertain significance	377407678	RCV001062241\|RCV003155350;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:CN169374	16	88884411	88884411	16:g.88884411T>C	-
NM_000512.5(GALNS):c.1482+1G>A	2588	GALNS	Uncertain significance	2142982054	RCV001578434;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884414	88884414	88884414	-
NM_000512.5(GALNS):c.1481T>C (p.Met494Thr)	2588	GALNS	Uncertain significance	2142982062	RCV001870728;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884416	88884416	88884416	-
NM_000512.5(GALNS):c.1480A>G (p.Met494Val)	2588	GALNS	Conflicting interpretations of pathogenicity	1401175486	RCV001384759;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884417	88884417	88884417	-
NM_000512.5(GALNS):c.1476G>A (p.Ala492=)	2588	GALNS	Likely benign	371056948	RCV001897241;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884421	88884421	88884421	-
NM_000512.5(GALNS):c.1475C>T (p.Ala492Val)	2588	GALNS	Uncertain significance	141171091	RCV001955726;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884422	88884422	88884422	-
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)	2588	GALNS	Conflicting interpretations of pathogenicity	760300454	RCV000985198;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884423	88884423	16:g.88884423C>T	-
NM_000512.5(GALNS):c.1471T>C (p.Trp491Arg)	2588	GALNS	Uncertain significance	753344649	RCV002017120;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884426	88884426	88884426	-
NM_000512.5(GALNS):c.1462G>A (p.Val488Met)	2588	GALNS	Benign	78127134	RCV000174484\|RCV000989652;	N	MedGen:CN169374\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884435	88884435	16:g.88884435C>T	ClinGen:CA201012,UniProtKB:P34059#VAR_007238	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.1461C>A (p.Asn487Lys)	2588	GALNS	Uncertain significance	1273463889	RCV001578346;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884436	88884436	88884436	-
NM_000512.5(GALNS):c.1461C>T (p.Asn487=)	2588	GALNS	Likely benign	1273463889	RCV002137843;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884436	88884436	88884436	-
NM_000512.5(GALNS):c.1460A>G (p.Asn487Ser)	2588	GALNS	Uncertain significance	118204440	RCV000000736;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884437	88884437	16:g.88884437T>C	ClinGen:CA251565,UniProtKB:P34059#VAR_007237,OMIM:612222.0007	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.1460A>T (p.Asn487Ile)	2588	GALNS	Uncertain significance	118204440	RCV001578345;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884437	88884437	88884437	-
NM_000512.5(GALNS):c.1429_1455del (p.Glu477_Gln485del)	2588	GALNS	Uncertain significance	1909818289	RCV001261588;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884442	88884468	16:g.88884442_88884468del	-
NM_000512.5(GALNS):c.1451C>T (p.Pro484Leu)	2588	GALNS	Uncertain significance	1482155729	RCV001578344;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884446	88884446	88884446	-
NM_000512.5(GALNS):c.1450C>T (p.Pro484Ser)	2588	GALNS	Uncertain significance	1204485789	RCV001578343;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884447	88884447	88884447	-
NM_000512.5(GALNS):c.1443C>T (p.Pro481=)	2588	GALNS	Benign/Likely benign	147536058	RCV000961078\|RCV001805020\|RCV003422276;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:CN169374\|MedGen:C3661900	16	88884454	88884454	NC_000016.9:g.88884454G>A	ClinGen:CA8234663	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.1441C>T (p.Pro481Ser)	2588	GALNS	Uncertain significance	781512359	RCV001362251;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884456	88884456	88884456	-
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe)	2588	GALNS	Benign/Likely benign	151296605	RCV000314283\|RCV000675526\|RCV001087801;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884459	88884459	16:g.88884459C>A	ClinGen:CA8234665	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.1431G>A (p.Glu477=)	2588	GALNS	Benign	2303271	RCV000079026\|RCV000604885\|RCV000675527;	N	MedGen:CN169374\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88884466	88884466	16:g.88884466C>T	ClinGen:CA146715	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.1427A>C (p.Gln476Pro)	2588	GALNS	Uncertain significance	1597524240	RCV001578341;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884470	88884470	88884470	-
NM_000512.5(GALNS):c.1423C>A (p.His475Asn)	2588	GALNS	Uncertain significance	749297663	RCV001578340;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884474	88884474	88884474	-
NM_000512.5(GALNS):c.1418A>G (p.Gln473Arg)	2588	GALNS	Uncertain significance	1909825123	RCV001345435;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884479	88884479	88884479	-
NM_000512.5(GALNS):c.1414G>A (p.Val472Ile)	2588	GALNS	Likely benign	147290567	RCV002088008;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884483	88884483	88884483	-
NM_000512.5(GALNS):c.1413C>T (p.Val471=)	2588	GALNS	Benign	73251084	RCV000079025\|RCV000675528\|RCV001078610;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884484	88884484	16:g.88884484G>A	ClinGen:CA146713	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.1410G>A (p.Ser470=)	2588	GALNS	Uncertain significance	763263800	RCV001119087;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884487	88884487	16:g.88884487C>T	-
NM_000512.5(GALNS):c.1410G>T (p.Ser470=)	2588	GALNS	Likely benign	763263800	RCV002098353;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884487	88884487	88884487	-
NM_000512.5(GALNS):c.1410G>C (p.Ser470=)	2588	GALNS	Likely benign	763263800	RCV002073884;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884487	88884487	88884487	-
NM_000512.5(GALNS):c.1409C>T (p.Ser470Leu)	2588	GALNS	Conflicting interpretations of pathogenicity	760260706	RCV001501342\|RCV003227978;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88884488	88884488	88884488	-
NM_000512.5(GALNS):c.1408T>C (p.Ser470Pro)	2588	GALNS	Uncertain significance	2142982603	RCV001578338;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884489	88884489	88884489	-
NM_000512.5(GALNS):c.1377C>T (p.Ala459=)	2588	GALNS	Likely benign	757704061	RCV001422978;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884520	88884520	16:g.88884520G>A	-
NM_000512.5(GALNS):c.1376C>T (p.Ala459Val)	2588	GALNS	Benign	114703967	RCV000535194\|RCV000780273\|RCV000675529;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:CN169374\|MedGen:C3661900	16	88884521	88884521	NC_000016.9:g.88884521G>A	ClinGen:CA8234679,UniProtKB:P34059#VAR_007236	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.1375G>A (p.Ala459Thr)	2588	GALNS	Conflicting interpretations of pathogenicity	750739641	RCV001372022\|RCV002550143;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MeSH:D030342,MedGen:C0950123	16	88884522	88884522	88884522	-
NM_000512.5(GALNS):c.1374C>T (p.Ser458=)	2588	GALNS	Likely benign	534204869	RCV000909559;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884523	88884523	16:g.88884523G>A	-
NM_000512.5(GALNS):c.1365-2A>G	2588	GALNS	association not found	-1	RCV003313762;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884534	88884534		-
NM_000512.5(GALNS):c.1365-4C>G	2588	GALNS	Likely benign	558654277	RCV002120823;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884536	88884536	88884536	-
NM_000512.5(GALNS):c.1365-20C>T	2588	GALNS	Likely benign	1044328485	RCV002082086;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88884552	88884552	88884552	-
NM_000512.5(GALNS):c.1364+15G>C	2588	GALNS	Likely benign	-1	RCV002790877;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88888982	88888982	NC_000016.9:g.88888982C>G	-
NM_000512.5(GALNS):c.1364+14G>C	2588	GALNS	Likely benign	1400572799	RCV002145258;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88888983	88888983	88888983	-
NM_000512.5(GALNS):c.1364+8G>A	2588	GALNS	Likely benign	368171136	RCV001489652;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88888989	88888989	NC_000016.9:g.88888989C>T	ClinGen:CA8234713	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.1364+6T>A	2588	GALNS	Uncertain significance	377120480	RCV001884461;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88888991	88888991	88888991	-
NM_000512.5(GALNS):c.1361T>C (p.Leu454Pro)	2588	GALNS	Uncertain significance	2142992298	RCV001578615;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889000	88889000	88889000	-
NM_000512.5(GALNS):c.1356C>T (p.Phe452=)	2588	GALNS	Likely benign	2142992304	RCV002205556;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889005	88889005	88889005	-
NM_000512.5(GALNS):c.1354T>A (p.Phe452Ile)	2588	GALNS	Conflicting interpretations of pathogenicity	398123432	RCV000079024\|RCV001578612;	N	MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889007	88889007	16:g.88889007A>T	ClinGen:CA221045,UniProtKB:P34059#VAR_024919	CN169374 not specified;
NM_000512.5(GALNS):c.1354T>C (p.Phe452Leu)	2588	GALNS	Uncertain significance	398123432	RCV001578613;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889007	88889007	88889007	-
NM_000512.5(GALNS):c.1349A>T (p.Glu450Val)	2588	GALNS	Uncertain significance	2142992313	RCV001578610;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889012	88889012	88889012	-
NM_000512.5(GALNS):c.1349A>G (p.Glu450Gly)	2588	GALNS	Uncertain significance	2142992313	RCV001578611;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889012	88889012	88889012	-
NM_000512.5(GALNS):c.1347G>A (p.Gly449=)	2588	GALNS	Likely benign	759760397	RCV002102393;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889014	88889014	88889014	-
NM_000512.5(GALNS):c.1345G>A (p.Gly449Arg)	2588	GALNS	Uncertain significance	1910352262	RCV001332504;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889016	88889016	88889016	-
NM_000512.5(GALNS):c.1336C>T (p.Arg446Trp)	2588	GALNS	Likely benign	557217245	RCV000633463;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889025	88889025	NC_000016.9:g.88889025G>A	ClinGen:CA8234720	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.1335A>G (p.Gly445=)	2588	GALNS	Likely benign	2142992319	RCV002218472;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889026	88889026	88889026	-
NM_000512.5(GALNS):c.1334G>A (p.Gly445Glu)	2588	GALNS	Uncertain significance	2142992321	RCV001578609;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889027	88889027	88889027	-
NM_000512.5(GALNS):c.1329C>T (p.His443=)	2588	GALNS	Likely benign	1411737981	RCV002142344;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889032	88889032	88889032	-
NM_000512.5(GALNS):c.1308G>A (p.Thr436=)	2588	GALNS	Likely benign	-1	RCV002636567;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889053	88889053		-
NM_000512.5(GALNS):c.1286C>T (p.Thr429Ile)	2588	GALNS	Uncertain significance	768180795	RCV001806425;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889075	88889075	88889075	-
NM_000512.5(GALNS):c.1278G>T (p.Gly426=)	2588	GALNS	Benign	76651187	RCV000675530\|RCV001087872;	N	MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889083	88889083	NC_000016.9:g.88889083C>A	ClinGen:CA8234736	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.1270G>A (p.Val424Ile)	2588	GALNS	Uncertain significance	-1	RCV002659328;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889091	88889091	NC_000016.9:g.88889091C>T	-
NM_000512.5(GALNS):c.1269C>T (p.Asn423=)	2588	GALNS	Conflicting interpretations of pathogenicity	148709901	RCV001121050;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889092	88889092	16:g.88889092G>A	-
NM_000512.5(GALNS):c.1264C>A (p.Gln422Lys)	2588	GALNS	Uncertain significance	1295162107	RCV001578604;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889097	88889097	88889097	-
NM_000512.5(GALNS):c.1262G>A (p.Gly421Glu)	2588	GALNS	Uncertain significance	2142992401	RCV001578603;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889099	88889099	88889099	-
NM_000512.5(GALNS):c.1261G>A (p.Gly421Arg)	2588	GALNS	Uncertain significance	2142992406	RCV001578459;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889100	88889100	88889100	-
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg)	2588	GALNS	Conflicting interpretations of pathogenicity	752937387	RCV001578458;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889102	88889102	88889102	-
NM_000512.5(GALNS):c.1258C>T (p.Pro420Ser)	2588	GALNS	Uncertain significance	1341980746	RCV001578456;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889103	88889103	88889103	-
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr)	2588	GALNS	Conflicting interpretations of pathogenicity	142822371	RCV000331371\|RCV000894656\|RCV003235192;	N	MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:CN169374	16	88889114	88889114	NC_000016.9:g.88889114A>G	ClinGen:CA8234741,UniProtKB:P34059#VAR_071595	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.1244G>T (p.Gly415Val)	2588	GALNS	Uncertain significance	2142992416	RCV001578455;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889117	88889117	88889117	-
NM_000512.5(GALNS):c.1243-10C>G	2588	GALNS	Uncertain significance	886052455	RCV000365073;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88889128	88889128	NC_000016.9:g.88889128G>C	ClinGen:CA10638667	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.1242+17G>A	2588	GALNS	Likely benign	1159726808	RCV002114525;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891158	88891158	88891158	-
NM_000512.5(GALNS):c.1242+16C>T	2588	GALNS	Likely benign	373098107	RCV002143462;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891159	88891159	88891159	-
NM_000512.5(GALNS):c.1242+3A>G	2588	GALNS	Uncertain significance	377067312	RCV000272920\|RCV003155160;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:CN169374	16	88891172	88891172	NC_000016.9:g.88891172T>C	ClinGen:CA8234771	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.1238G>A (p.Arg413Lys)	2588	GALNS	Uncertain significance	374798170	RCV001958227\|RCV003250338;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MeSH:D030342,MedGen:C0950123	16	88891179	88891179	88891179	-
NM_000512.5(GALNS):c.1230G>A (p.Glu410=)	2588	GALNS	Likely benign	567507214	RCV001478667;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891187	88891187	16:g.88891187C>T	-
NM_000512.5(GALNS):c.1226G>C (p.Trp409Ser)	2588	GALNS	Uncertain significance	2142993782	RCV001578451;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891191	88891191	88891191	-
NM_000512.5(GALNS):c.1221C>G (p.Asn407Lys)	2588	GALNS	Uncertain significance	2142993785	RCV001578450;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891196	88891196	88891196	-
NM_000512.5(GALNS):c.1219A>C (p.Asn407His)	2588	GALNS	Conflicting interpretations of pathogenicity	749578474	RCV000784908\|RCV001759478;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:CN517202	16	88891198	88891198	16:g.88891198T>G	-
NM_000512.5(GALNS):c.1207TGGACC[1] (p.403WT[1])	2588	GALNS	Uncertain significance	1567519128	RCV000686919;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891199	88891204	NC_000016.9:g.88891200GTCCAG[1]	-	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.1209_1210delinsTT (p.Trp403_Thr404delinsCysSer)	2588	GALNS	Uncertain significance	2142993802	RCV001578433;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891207	88891208	88891207	-
NM_000512.5(GALNS):c.1210A>C (p.Thr404Pro)	2588	GALNS	Uncertain significance	2142993800	RCV001967000;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891207	88891207	88891207	-
NM_000512.5(GALNS):c.1201C>T (p.His401Tyr)	2588	GALNS	Uncertain significance	2142993806	RCV001578432;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891216	88891216	88891216	-
NM_000512.5(GALNS):c.1198G>A (p.Ala400Thr)	2588	GALNS	Uncertain significance	2303270	RCV001315633;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891219	88891219	88891219	-
NM_000512.5(GALNS):c.1196A>G (p.Lys399Arg)	2588	GALNS	Conflicting interpretations of pathogenicity	1267791852	RCV001578431;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891221	88891221	88891221	-
NM_000512.5(GALNS):c.1192C>G (p.His398Asp)	2588	GALNS	Uncertain significance	1910635964	RCV001578429;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891225	88891225	88891225	-
NM_000512.5(GALNS):c.1186G>A (p.Gly396Arg)	2588	GALNS	Conflicting interpretations of pathogenicity	371459975	RCV000326460\|RCV000490121;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:CN517202	16	88891231	88891231	NC_000016.9:g.88891231C>T	ClinGen:CA8234779	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.1184T>C (p.Leu395Pro)	2588	GALNS	Uncertain significance	1227964288	RCV001578427;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891233	88891233	88891233	-
NM_000512.5(GALNS):c.1183C>G (p.Leu395Val)	2588	GALNS	Uncertain significance	767701478	RCV001578426;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891234	88891234	88891234	-
NM_000512.5(GALNS):c.1182C>A (p.Thr394=)	2588	GALNS	Likely benign	1414082372	RCV000904069;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891235	88891235	16:g.88891235G>T	-
NM_000512.5(GALNS):c.1180A>C (p.Thr394Pro)	2588	GALNS	Uncertain significance	2142993839	RCV001578425;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891237	88891237	88891237	-
NM_000512.5(GALNS):c.1173GGC[1] (p.Ala393del)	2588	GALNS	Uncertain significance	1567519221	RCV000727556\|RCV001578423;	N	MedGen:CN517202\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891239	88891241	NC_000016.9:g.88891239GCC[1]	-
NM_000512.5(GALNS):c.1177G>T (p.Ala393Ser)	2588	GALNS	Benign	2303269	RCV000079023\|RCV000378709\|RCV000675532;	N	MedGen:CN169374\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88891240	88891240	16:g.88891240C>A	ClinGen:CA146711,UniProtKB:P34059#VAR_007230	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.1176_1177delinsAT (p.Ala393Ser)	2588	GALNS	Likely benign	2142993851	RCV002134383;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891240	88891241	88891240	-
NM_000512.5(GALNS):c.1176G>A (p.Ala392=)	2588	GALNS	Conflicting interpretations of pathogenicity	398123431	RCV000079022\|RCV002515757;	N	MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891241	88891241	16:g.88891241C>T	ClinGen:CA221043	CN169374 not specified;
NM_000512.5(GALNS):c.1169T>C (p.Leu390Pro)	2588	GALNS	Uncertain significance	2142993863	RCV001578337;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891248	88891248	88891248	-
NM_000512.5(GALNS):c.1166C>T (p.Thr389Met)	2588	GALNS	Uncertain significance	-1	RCV002755305;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891251	88891251	NC_000016.9:g.88891251G>A	-
NM_000512.5(GALNS):c.1164C>A (p.Asp388Glu)	2588	GALNS	Conflicting interpretations of pathogenicity	752339162	RCV000633460;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891253	88891253	16:g.88891253G>T	ClinGen:CA8234784	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.1161C>T (p.Gly387=)	2588	GALNS	Likely benign	376919708	RCV002083782;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891256	88891256	88891256	-
NM_000512.5(GALNS):c.1160G>A (p.Gly387Asp)	2588	GALNS	Uncertain significance	-1	RCV003007740;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891257	88891257	NC_000016.9:g.88891257C>T	-
NM_000512.5(GALNS):c.1159G>A (p.Gly387Ser)	2588	GALNS	Uncertain significance	1910641750	RCV001578335;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891258	88891258	88891258	-
NM_000512.5(GALNS):c.1157G>A (p.Arg386His)	2588	GALNS	Conflicting interpretations of pathogenicity	1221167717	RCV001578334\|RCV002469379;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582	16	88891260	88891260	88891260	-
NM_000512.5(GALNS):c.1156C>A (p.Arg386Ser)	2588	GALNS	Uncertain significance	118204437	RCV001578333;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891261	88891261	88891261	-
NM_000512.5(GALNS):c.1142C>G (p.Pro381Arg)	2588	GALNS	Uncertain significance	2142993896	RCV001578331;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891275	88891275	88891275	-
NM_000512.5(GALNS):c.1140G>T (p.Arg380Ser)	2588	GALNS	Uncertain significance	200763834	RCV001578329;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891277	88891277	88891277	-
NM_000512.5(GALNS):c.1140-5C>T	2588	GALNS	Likely benign	1181279151	RCV001408869;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891282	88891282	88891282	-
NM_000512.5(GALNS):c.1140-14C>T	2588	GALNS	Likely benign	-1	RCV003063432;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891291	88891291	NC_000016.9:g.88891291G>A	-
NM_000512.5(GALNS):c.1140-15C>T	2588	GALNS	Uncertain significance	1910644710	RCV001121051;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88891292	88891292	16:g.88891292G>A	-
NM_000512.5(GALNS):c.1139+20C>T	2588	GALNS	Likely benign	762116692	RCV002109865;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893090	88893090	88893090	-
NM_000512.5(GALNS):c.1139+20del	2588	GALNS	Benign	-1	RCV003060843;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893090	88893090	NC_000016.9:g.88893093del	-
NM_000512.5(GALNS):c.1139+19C>T	2588	GALNS	Likely benign	777834560	RCV002170851;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893091	88893091	88893091	-
NM_000512.5(GALNS):c.1139G>C (p.Arg380Thr)	2588	GALNS	Uncertain significance	2142995734	RCV001578328;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893110	88893110	88893110	-
NM_000512.5(GALNS):c.1139G>A (p.Arg380Lys)	2588	GALNS	Uncertain significance	-1	RCV002880698;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893110	88893110	NC_000016.9:g.88893110C>T	-
NM_000512.5(GALNS):c.1138A>G (p.Arg380Gly)	2588	GALNS	Conflicting interpretations of pathogenicity	770908172	RCV001578327;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893111	88893111	88893111	-
NM_000512.5(GALNS):c.1135G>A (p.Asp379Asn)	2588	GALNS	Likely benign	146471218	RCV001974032;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893114	88893114	88893114	-
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln)	2588	GALNS	Conflicting interpretations of pathogenicity	150734270	RCV000173702\|RCV000697370\|RCV001844067;	N	MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:CN169374	16	88893122	88893122	16:g.88893122C>T	ClinGen:CA239140,UniProtKB:P34059#VAR_007227	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.1126C>T (p.Arg376Trp)	2588	GALNS	Uncertain significance	762690924	RCV001116142;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893123	88893123	16:g.88893123G>A	-
NM_000512.5(GALNS):c.1125C>T (p.Gly375=)	2588	GALNS	Likely benign	773846201	RCV001942439;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893124	88893124	88893124	-
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser)	2588	GALNS	Uncertain significance	749891007	RCV001116143;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893141	88893141	16:g.88893141G>A	-
NM_000512.5(GALNS):c.1106T>C (p.Leu369Pro)	2588	GALNS	Uncertain significance	2142995771	RCV001578600;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893143	88893143	88893143	-
NM_000512.5(GALNS):c.1105C>T (p.Leu369Phe)	2588	GALNS	Uncertain significance	368784505	RCV001116144;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893144	88893144	16:g.88893144G>A	-
NM_000512.5(GALNS):c.1104C>T (p.Leu368=)	2588	GALNS	Likely benign	1322856128	RCV002172645;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893145	88893145	88893145	-
NM_000512.5(GALNS):c.1100A>G (p.Asn367Ser)	2588	GALNS	Uncertain significance	150111302	RCV002002622;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893149	88893149	88893149	-
NM_000512.5(GALNS):c.1097T>C (p.Leu366Pro)	2588	GALNS	Uncertain significance	971227692	RCV001578599;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893152	88893152	88893152	ClinVar:998033
NM_000512.5(GALNS):c.1094G>T (p.Gly365Val)	2588	GALNS	Uncertain significance	2142995782	RCV001578598;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893155	88893155	88893155	-
NM_000512.5(GALNS):c.1088T>C (p.Ile363Thr)	2588	GALNS	Uncertain significance	-1	RCV003130977;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893161	88893161	NC_000016.9:g.88893161A>G	-
NM_000512.5(GALNS):c.1087A>G (p.Ile363Val)	2588	GALNS	Uncertain significance	758802414	RCV001922751;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893162	88893162	88893162	-
NM_000512.5(GALNS):c.1086C>T (p.Ala362=)	2588	GALNS	Likely benign	2142995793	RCV002212363;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893163	88893163	88893163	-
NM_000512.5(GALNS):c.1083G>A (p.Arg361=)	2588	GALNS	Likely benign	2142995796	RCV002103653;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893166	88893166	88893166	-
NM_000512.5(GALNS):c.1082G>T (p.Arg361Met)	2588	GALNS	Uncertain significance	2142995799	RCV001578597;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893167	88893167	88893167	-
NM_000512.5(GALNS):c.1078G>A (p.Asp360Asn)	2588	GALNS	Uncertain significance	202031547	RCV001116145;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893171	88893171	16:g.88893171C>T	-
NM_000512.5(GALNS):c.1071G>A (p.Pro357=)	2588	GALNS	Conflicting interpretations of pathogenicity	374619390	RCV000974782;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893178	88893178	NC_000016.9:g.88893178C>T	ClinGen:CA8234832	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.1071G>T (p.Pro357=)	2588	GALNS	Likely benign	374619390	RCV002100983;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893178	88893178	88893178	-
NM_000512.5(GALNS):c.1070C>T (p.Pro357Leu)	2588	GALNS	Uncertain significance	769748679	RCV001116146;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893179	88893179	16:g.88893179G>A	-
NM_000512.5(GALNS):c.1067C>T (p.Thr356Met)	2588	GALNS	Uncertain significance	1017572961	RCV001205415;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893182	88893182	16:g.88893182G>A	-
NM_000512.5(GALNS):c.1062C>T (p.Gly354=)	2588	GALNS	Uncertain significance	1910972322	RCV001966513;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893187	88893187	88893187	-
NM_000512.5(GALNS):c.1059G>A (p.Ala353=)	2588	GALNS	Conflicting interpretations of pathogenicity	768334388	RCV001116147;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893190	88893190	16:g.88893190C>T	-
NM_000512.5(GALNS):c.1058C>A (p.Ala353Glu)	2588	GALNS	Uncertain significance	774113183	RCV001578595;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893191	88893191	88893191	-
NM_000512.5(GALNS):c.1058C>T (p.Ala353Val)	2588	GALNS	Uncertain significance	774113183	RCV001998809;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893191	88893191	88893191	-
NM_000512.5(GALNS):c.1055T>C (p.Leu352Pro)	2588	GALNS	Uncertain significance	2142995830	RCV001578594;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893194	88893194	88893194	-
NM_000512.5(GALNS):c.1052C>T (p.Ala351Val)	2588	GALNS	Uncertain significance	761386453	RCV001844287\|RCV001578593;	N	MedGen:CN169374\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893197	88893197	88893197	-
NM_000512.5(GALNS):c.1051G>T (p.Ala351Ser)	2588	GALNS	Uncertain significance	-1	RCV002607978;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893198	88893198	NC_000016.9:g.88893198C>A	-
NM_000512.5(GALNS):c.1043C>A (p.Thr348Asn)	2588	GALNS	Uncertain significance	368305568	RCV001578591;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893206	88893206	88893206	-
NM_000512.5(GALNS):c.1042A>G (p.Thr348Ala)	2588	GALNS	Uncertain significance	1597547797	RCV001578590;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893207	88893207	88893207	-
NM_000512.5(GALNS):c.1038C>A (p.Phe346Leu)	2588	GALNS	Uncertain significance	766504053	RCV001578542;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893211	88893211	88893211	-
NM_000512.5(GALNS):c.1034T>C (p.Leu345Pro)	2588	GALNS	Uncertain significance	2142995853	RCV001578541;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893215	88893215	88893215	-
NM_000512.5(GALNS):c.1032C>G (p.Asp344Glu)	2588	GALNS	Uncertain significance	1407467035	RCV001578540;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893217	88893217	88893217	-
NM_000512.5(GALNS):c.1030G>A (p.Asp344Asn)	2588	GALNS	Uncertain significance	2142995864	RCV001578539;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893219	88893219	88893219	-
NM_000512.5(GALNS):c.1027A>T (p.Met343Leu)	2588	GALNS	Uncertain significance	1910977435	RCV001578538;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893222	88893222	88893222	-
NM_000512.5(GALNS):c.1016T>G (p.Leu339Arg)	2588	GALNS	Uncertain significance	1244322663	RCV001315817;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893233	88893233	88893233	-
NM_000512.5(GALNS):c.1008C>T (p.Ser336=)	2588	GALNS	Uncertain significance	886052456	RCV000320594;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893241	88893241	NC_000016.9:g.88893241G>A	ClinGen:CA10649288	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.1005G>C (p.Val335=)	2588	GALNS	Likely benign	772871566	RCV001488091;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893244	88893244	16:g.88893244C>G	-
NM_000512.5(GALNS):c.1003-3C>G	2588	GALNS	Conflicting interpretations of pathogenicity	760239741	RCV001578534\|RCV003331132;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582	16	88893249	88893249	88893249	-
NM_000512.5(GALNS):c.1003-10T>C	2588	GALNS	Uncertain significance	753249472	RCV000377728;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893256	88893256	NC_000016.9:g.88893256A>G	ClinGen:CA8234844	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.1003-16C>T	2588	GALNS	Likely benign	-1	RCV002914632;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893262	88893262	NC_000016.9:g.88893262G>A	-
NM_000512.5(GALNS):c.1003-19T>C	2588	GALNS	Likely benign	368105385	RCV002090544;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88893265	88893265	88893265	-
NM_000512.5(GALNS):c.1003-42C>T	2588	GALNS	Benign/Likely benign	139088253	RCV000243288\|RCV001516114\|RCV001668439;	N	MedGen:CN169374\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88893288	88893288	16:g.88893288G>A	ClinGen:CA8234851	CN169374 not specified;
NM_000512.5(GALNS):c.1002+307G>C	2588	GALNS	Conflicting interpretations of pathogenicity	866140272	RCV001572328\|RCV001578533;	N	MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898099	88898099	88898099	-
NM_000512.5(GALNS):c.1002+18G>A	2588	GALNS	Likely benign	376019383	RCV002083536;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898388	88898388	88898388	-
NM_000512.5(GALNS):c.1002+17C>T	2588	GALNS	Benign	78494153	RCV000079018\|RCV000675533\|RCV001520916;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898389	88898389	16:g.88898389G>A	ClinGen:CA146710	CN517202 not provided;
NM_000512.5(GALNS):c.1002+11G>A	2588	GALNS	Likely benign	777624961	RCV002141660;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898395	88898395	88898395	-
NM_000512.5(GALNS):c.1002+10C>T	2588	GALNS	Likely benign	746669295	RCV002088430;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898396	88898396	88898396	-
NM_000512.5(GALNS):c.1001A>G (p.Gln334Arg)	2588	GALNS	Conflicting interpretations of pathogenicity	138555898	RCV000280847\|RCV000675534;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:CN517202	16	88898407	88898407	NC_000016.9:g.88898407T>C	ClinGen:CA8234879	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.993T>C (p.Thr331=)	2588	GALNS	Uncertain significance	762154863	RCV001117579;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898415	88898415	16:g.88898415A>G	-
NM_000512.5(GALNS):c.988G>A (p.Val330Ile)	2588	GALNS	Uncertain significance	767856715	RCV001362692;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898420	88898420	88898420	-
NM_000512.5(GALNS):c.986A>C (p.His329Pro)	2588	GALNS	Conflicting interpretations of pathogenicity	760892654	RCV001349762;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898422	88898422	88898422	-
NM_000512.5(GALNS):c.985C>A (p.His329Asn)	2588	GALNS	Uncertain significance	766548318	RCV001578532;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898423	88898423	88898423	-
NM_000512.5(GALNS):c.973TGG[1] (p.Trp326del)	2588	GALNS	Uncertain significance	2142999135	RCV001578418;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898430	88898432	88898429	-
NM_000512.5(GALNS):c.977G>C (p.Trp326Ser)	2588	GALNS	Uncertain significance	2142999137	RCV001578419;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898431	88898431	88898431	-
NM_000512.5(GALNS):c.976T>C (p.Trp326Arg)	2588	GALNS	Uncertain significance	-1	RCV003135317;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898432	88898432	NC_000016.9:g.88898432A>G	-
NM_000512.5(GALNS):c.975G>T (p.Trp325Cys)	2588	GALNS	Uncertain significance	1269110043	RCV001578417;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898433	88898433	88898433	-
NM_000512.5(GALNS):c.971C>A (p.Ala324Glu)	2588	GALNS	Uncertain significance	2142999148	RCV001578415;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898437	88898437	88898437	-
NM_000512.5(GALNS):c.970G>T (p.Ala324Ser)	2588	GALNS	Uncertain significance	569725890	RCV001875199;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898438	88898438	88898438	-
NM_000512.5(GALNS):c.969C>T (p.Leu323=)	2588	GALNS	Likely benign	373218044	RCV002207790;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898439	88898439	88898439	-
NM_000512.5(GALNS):c.964G>C (p.Ala322Pro)	2588	GALNS	Uncertain significance	1597559500	RCV000799900;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898444	88898444	16:g.88898444C>G	-
NM_000512.5(GALNS):c.960G>T (p.Glu320Asp)	2588	GALNS	Uncertain significance	1213435795	RCV001914326;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898448	88898448	88898448	-
NM_000512.5(GALNS):c.958G>A (p.Glu320Lys)	2588	GALNS	Uncertain significance	2142999156	RCV001578414;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898450	88898450	88898450	-
NM_000512.5(GALNS):c.956G>C (p.Arg319Thr)	2588	GALNS	Uncertain significance	377744312	RCV001578413;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898452	88898452	88898452	-
NM_000512.5(GALNS):c.952A>T (p.Met318Leu)	2588	GALNS	Uncertain significance	537013895	RCV001117580;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898456	88898456	16:g.88898456T>A	-
NM_000512.5(GALNS):c.950G>A (p.Gly317Glu)	2588	GALNS	Uncertain significance	2142999169	RCV001578411;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898458	88898458	88898458	-
NM_000512.5(GALNS):c.949G>C (p.Gly317Arg)	2588	GALNS	Conflicting interpretations of pathogenicity	556060696	RCV001578410\|RCV001814310;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|Human Phenotype Ontology:HP:0001939,Human Phenotype Ontology:HP:0002146,MedGen:C4021768	16	88898459	88898459	88898459	-
NM_000512.5(GALNS):c.949G>A (p.Gly317Arg)	2588	GALNS	Conflicting interpretations of pathogenicity	556060696	RCV001555291\|RCV001578409;	N	MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898459	88898459	88898459	-
NM_000512.5(GALNS):c.947G>A (p.Gly316Glu)	2588	GALNS	Uncertain significance	1057518404	RCV000414526\|RCV001861432;	N	MedGen:CN517202\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898461	88898461	16:g.88898461C>T	ClinGen:CA16042956	CN169374 not specified;
NM_000512.5(GALNS):c.947G>T (p.Gly316Val)	2588	GALNS	Uncertain significance	1057518404	RCV001578408;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898461	88898461	88898461	-
NM_000512.5(GALNS):c.943G>C (p.Glu315Gln)	2588	GALNS	Uncertain significance	2142999177	RCV001578407;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898465	88898465	88898465	-
NM_000512.5(GALNS):c.943G>A (p.Glu315Lys)	2588	GALNS	Uncertain significance	2142999177	RCV001578326;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898465	88898465	88898465	-
NM_000512.5(GALNS):c.940T>G (p.Phe314Val)	2588	GALNS	Uncertain significance	774781295	RCV001578325;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898468	88898468	88898468	-
NM_000512.5(GALNS):c.938C>T (p.Thr313Met)	2588	GALNS	Conflicting interpretations of pathogenicity	894525161	RCV001578324\|RCV003331131;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582	16	88898470	88898470	88898470	-
NM_000512.5(GALNS):c.937A>G (p.Thr313Ala)	2588	GALNS	Uncertain significance	2142999184	RCV001578323;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898471	88898471	88898471	-
NM_000512.5(GALNS):c.934A>T (p.Thr312Ser)	2588	GALNS	Conflicting interpretations of pathogenicity	2142999186	RCV001578322;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898474	88898474	88898474	-
NM_000512.5(GALNS):c.930G>C (p.Lys310Asn)	2588	GALNS	Uncertain significance	377285422	RCV000686349;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898478	88898478	NC_000016.9:g.88898478C>G	-	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.925G>A (p.Gly309Arg)	2588	GALNS	Uncertain significance	2142999191	RCV001578320;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898483	88898483	88898483	-
NM_000512.5(GALNS):c.924T>G (p.Cys308Trp)	2588	GALNS	Uncertain significance	1567526988	RCV000686346;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898484	88898484	NC_000016.9:g.88898484A>C	-	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.922T>C (p.Cys308Arg)	2588	GALNS	Uncertain significance	2142999197	RCV001578319;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898486	88898486	88898486	-
NM_000512.5(GALNS):c.921G>T (p.Leu307=)	2588	GALNS	Conflicting interpretations of pathogenicity	201986622	RCV000960515;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898487	88898487	NC_000016.9:g.88898487C>A	ClinGen:CA8234901	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.920T>C (p.Leu307Pro)	2588	GALNS	Uncertain significance	2142999202	RCV001368742;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898488	88898488	88898488	-
NM_000512.5(GALNS):c.919C>A (p.Leu307Met)	2588	GALNS	Uncertain significance	2142999203	RCV001578318;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898489	88898489	88898489	-
NM_000512.5(GALNS):c.917T>G (p.Phe306Cys)	2588	GALNS	Uncertain significance	759590432	RCV001578317;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898491	88898491	88898491	-
NM_000512.5(GALNS):c.917T>C (p.Phe306Ser)	2588	GALNS	Uncertain significance	759590432	RCV001578316\|RCV003331130;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:CN169374	16	88898491	88898491	88898491	-
NM_000512.5(GALNS):c.916T>G (p.Phe306Val)	2588	GALNS	Conflicting interpretations of pathogenicity	2142999207	RCV001531860\|RCV001578315\|RCV002242515;	N	MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582	16	88898492	88898492	88898492	-
NM_000512.5(GALNS):c.911G>T (p.Gly304Val)	2588	GALNS	Conflicting interpretations of pathogenicity	758439379	RCV000413811\|RCV001578589;	N	MedGen:CN169374\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898497	88898497	16:g.88898497C>A	ClinGen:CA8234906	CN169374 not specified;
NM_000512.5(GALNS):c.911G>A (p.Gly304Asp)	2588	GALNS	Uncertain significance	758439379	RCV001578314;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898497	88898497	88898497	-
NM_000512.5(GALNS):c.910G>A (p.Gly304Ser)	2588	GALNS	Uncertain significance	764070268	RCV001366215\|RCV003317487;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:CN169374	16	88898498	88898498	88898498	-
NM_000512.5(GALNS):c.909C>G (p.Asn303Lys)	2588	GALNS	Uncertain significance	751446283	RCV000761511;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898499	88898499	NC_000016.9:g.88898499G>C	-
NM_000512.5(GALNS):c.909C>T (p.Asn303=)	2588	GALNS	Likely benign	751446283	RCV002193247;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898499	88898499	88898499	-
NM_000512.5(GALNS):c.899G>T (p.Gly300Val)	2588	GALNS	Uncertain significance	780778562	RCV001895735;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898509	88898509	88898509	-
NM_000512.5(GALNS):c.899-4C>G	2588	GALNS	Benign	143793386	RCV000675535\|RCV001086503;	N	MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898513	88898513	16:g.88898513G>C	-	CN517202 not provided;
NM_000512.5(GALNS):c.899-5C>T	2588	GALNS	Likely benign	-1	RCV002606347;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898514	88898514	NC_000016.9:g.88898514G>A	-
NM_000512.5(GALNS):c.899-6T>C	2588	GALNS	Conflicting interpretations of pathogenicity	374850312	RCV000307021\|RCV002059155;	N	MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898515	88898515	16:g.88898515A>G	ClinGen:CA8234914	CN169374 not specified;
NM_000512.5(GALNS):c.899-13C>T	2588	GALNS	Likely benign	938443899	RCV002167905;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898522	88898522	88898522	-
NM_000512.5(GALNS):c.899-14C>A	2588	GALNS	Likely benign	771269427	RCV002188233;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898523	88898523	88898523	-
NM_000512.5(GALNS):c.899-19A>G	2588	GALNS	Likely benign	759805854	RCV002135326;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898528	88898528	88898528	-
NM_000512.5(GALNS):c.899-167A>G	2588	GALNS	Uncertain significance	2142999330	RCV001578588;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88898676	88898676	88898676	-
NM_000512.5(GALNS):c.898+42G>C	2588	GALNS	Benign	76095307	RCV000248024\|RCV001527798\|RCV001800629;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901579	88901579	NC_000016.9:g.88901579C>G	ClinGen:CA8234931	CN169374 not specified;
NM_000512.5(GALNS):c.898+25C>G	2588	GALNS	Benign	113936280	RCV000241634\|RCV000675536\|RCV001800628;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901596	88901596	NC_000016.9:g.88901596G>C	ClinGen:CA8234937	CN517202 not provided;
NM_000512.5(GALNS):c.898+4A>G	2588	GALNS	Uncertain significance	774518058	RCV001305516;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901617	88901617	88901617	-
NM_000512.5(GALNS):c.887C>T (p.Ala296Val)	2588	GALNS	Conflicting interpretations of pathogenicity	200371805	RCV001578581;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901632	88901632	88901632	-
NM_000512.5(GALNS):c.886G>A (p.Ala296Thr)	2588	GALNS	Uncertain significance	-1	RCV003075830;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901633	88901633	NC_000016.9:g.88901633C>T	-
NM_000512.5(GALNS):c.885C>T (p.Ser295=)	2588	GALNS	Likely benign	766121335	RCV001454726;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901634	88901634	88901634	-
NM_000512.5(GALNS):c.872C>A (p.Ala291Asp)	2588	GALNS	Uncertain significance	2143001123	RCV001578579;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901647	88901647	88901647	-
NM_000512.5(GALNS):c.871G>T (p.Ala291Ser)	2588	GALNS	Conflicting interpretations of pathogenicity	118204448	RCV000420010\|RCV001578578;	N	MedGen:CN517202\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901648	88901648	16:g.88901648C>A	ClinGen:CA16607530	CN517202 not provided;
NM_000512.5(GALNS):c.869G>A (p.Gly290Asp)	2588	GALNS	Uncertain significance	1214775986	RCV001578531;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901650	88901650	88901650	-
NM_000512.5(GALNS):c.868G>C (p.Gly290Arg)	2588	GALNS	Uncertain significance	975409254	RCV001578529;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901651	88901651	88901651	-
NM_000512.5(GALNS):c.865A>G (p.Asn289Asp)	2588	GALNS	Uncertain significance	1314520034	RCV001578527\|RCV003399149;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:CN169374	16	88901654	88901654	88901654	-
NM_000512.5(GALNS):c.865A>C (p.Asn289His)	2588	GALNS	Uncertain significance	1314520034	RCV001943148;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901654	88901654	88901654	-
NM_000512.5(GALNS):c.863A>G (p.Asp288Gly)	2588	GALNS	Uncertain significance	2143001134	RCV001578526;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901656	88901656	88901656	-
NM_000512.5(GALNS):c.858G>A (p.Thr286=)	2588	GALNS	Conflicting interpretations of pathogenicity	140299014	RCV000249866\|RCV000973824;	N	MedGen:CN169374\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901661	88901661	NC_000016.9:g.88901661C>T	ClinGen:CA8234956	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.857C>T (p.Thr286Met)	2588	GALNS	Conflicting interpretations of pathogenicity	137927658	RCV000781396\|RCV000890160;	N	MedGen:CN169374\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901662	88901662	NC_000016.9:g.88901662G>A	-
NM_000512.5(GALNS):c.850T>G (p.Phe284Val)	2588	GALNS	Conflicting interpretations of pathogenicity	144067930	RCV000614681\|RCV000844697;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582	16	88901669	88901669	NC_000016.9:g.88901669A>C	ClinGen:CA8234959,UniProtKB:P34059#VAR_007210	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.848T>C (p.Val283Ala)	2588	GALNS	Uncertain significance	-1	RCV003075237;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901671	88901671	NC_000016.9:g.88901671A>G	-
NM_000512.5(GALNS):c.847G>A (p.Val283Ile)	2588	GALNS	Uncertain significance	772097990	RCV001295503;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901672	88901672	88901672	-
NM_000512.5(GALNS):c.846C>T (p.Phe282=)	2588	GALNS	Benign	35232749	RCV000079045\|RCV000350630\|RCV000675537;	N	MedGen:CN169374\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88901673	88901673	16:g.88901673G>A	ClinGen:CA146728	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.836ACA[1] (p.Asn280del)	2588	GALNS	Conflicting interpretations of pathogenicity	1389218771	RCV001093708;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901678	88901680	16:g.88901678_88901680del	-
NM_000512.5(GALNS):c.833C>T (p.Ala278Val)	2588	GALNS	Conflicting interpretations of pathogenicity	141544939	RCV002112411\|RCV002261451;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88901686	88901686	88901686	-
NM_000512.5(GALNS):c.832G>A (p.Ala278Thr)	2588	GALNS	Uncertain significance	377591464	RCV001219175;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901687	88901687	16:g.88901687C>T	-
NM_000512.5(GALNS):c.828C>T (p.His276=)	2588	GALNS	Likely benign	759216815	RCV000885631;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901691	88901691	16:g.88901691G>A	-
NM_000512.5(GALNS):c.828C>G (p.His276Gln)	2588	GALNS	Uncertain significance	759216815	RCV001991471;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901691	88901691	88901691	-
NM_000512.5(GALNS):c.824T>C (p.Leu275Pro)	2588	GALNS	Conflicting interpretations of pathogenicity	2143001162	RCV001578522\|RCV003399148;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:CN169374	16	88901695	88901695	88901695	-
NM_000512.5(GALNS):c.822C>T (p.Asp274=)	2588	GALNS	Likely benign	764817769	RCV001401548;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901697	88901697	88901697	-
NM_000512.5(GALNS):c.812T>C (p.Leu271Pro)	2588	GALNS	Uncertain significance	1912001607	RCV001578521;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901707	88901707	88901707	-
NM_000512.5(GALNS):c.791G>C (p.Ser264Thr)	2588	GALNS	Uncertain significance	2143001182	RCV001578406;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901728	88901728	88901728	-
NM_000512.5(GALNS):c.780G>C (p.Glu260Asp)	2588	GALNS	Uncertain significance	2143001191	RCV001578405;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901739	88901739	88901739	-
NM_000512.5(GALNS):c.779A>T (p.Glu260Val)	2588	GALNS	Uncertain significance	-1	RCV003340840;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901740	88901740		-
NM_000512.5(GALNS):c.778G>A (p.Glu260Lys)	2588	GALNS	Uncertain significance	2143001194	RCV001578404;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901741	88901741	88901741	-
NM_000512.5(GALNS):c.775C>A (p.Arg259=)	2588	GALNS	Benign/Likely benign	61742258	RCV000407278\|RCV000675538\|RCV001080719;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901744	88901744	16:g.88901744G>T	ClinGen:CA8234974	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.775C>G (p.Arg259Gly)	2588	GALNS	Uncertain significance	61742258	RCV001578403;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901744	88901744	88901744	-
NM_000512.5(GALNS):c.772G>A (p.Val258Ile)	2588	GALNS	Uncertain significance	779257235	RCV001204238;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901747	88901747	16:g.88901747C>T	-
NM_000512.5(GALNS):c.771C>T (p.Ala257=)	2588	GALNS	Conflicting interpretations of pathogenicity	370586494	RCV000917491\|RCV001119182;	N	MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901748	88901748	16:g.88901748G>A	-
NM_000512.5(GALNS):c.769G>A (p.Ala257Thr)	2588	GALNS	Uncertain significance	773283163	RCV001578402;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901750	88901750	88901750	-
NM_000512.5(GALNS):c.768C>T (p.Asp256=)	2588	GALNS	Likely benign	-1	RCV002620644;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901751	88901751		-
NM_000512.5(GALNS):c.764G>A (p.Gly255Glu)	2588	GALNS	Uncertain significance	1912009292	RCV002039331;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901755	88901755	88901755	-
NM_000512.5(GALNS):c.763G>A (p.Gly255Arg)	2588	GALNS	Uncertain significance	1336648211	RCV001578401;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901756	88901756	88901756	-
NM_000512.5(GALNS):c.761A>G (p.Tyr254Cys)	2588	GALNS	Uncertain significance	2143001210	RCV001578399;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901758	88901758	88901758	-
NM_000512.5(GALNS):c.759-3C>G	2588	GALNS	Uncertain significance	776430057	RCV001578397;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901763	88901763	88901763	-
NM_000512.5(GALNS):c.759-67G>A	2588	GALNS	Conflicting interpretations of pathogenicity	565875595	RCV001513402;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88901827	88901827	88901827	-
NM_000512.5(GALNS):c.758+22C>T	2588	GALNS	Benign	78317153	RCV000241948\|RCV000675539\|RCV001800627;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902111	88902111	NC_000016.9:g.88902111G>A	ClinGen:CA8234996	CN517202 not provided;
NM_000512.5(GALNS):c.758+4A>T	2588	GALNS	Uncertain significance	2143001351	RCV001578396;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902129	88902129	88902129	-
NM_000512.5(GALNS):c.758+3G>A	2588	GALNS	Uncertain significance	-1	RCV002953022;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902130	88902130	NC_000016.9:g.88902130C>T	-
NM_000512.5(GALNS):c.758G>A (p.Arg253Gln)	2588	GALNS	Uncertain significance	769560969	RCV001578394\|RCV002307732;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:CN169374	16	88902133	88902133	88902133	-
NM_000512.5(GALNS):c.757C>T (p.Arg253Trp)	2588	GALNS	Conflicting interpretations of pathogenicity	775300515	RCV001298369;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902134	88902134	88902134	-
NM_000512.5(GALNS):c.756G>A (p.Gly252=)	2588	GALNS	Likely benign	146538873	RCV002065916\|RCV003424470;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88902135	88902135	16:g.88902135C>T	-
NM_000512.5(GALNS):c.754G>A (p.Gly252Arg)	2588	GALNS	Uncertain significance	-1	RCV003005841;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902137	88902137	NC_000016.9:g.88902137C>T	-
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp)	2588	GALNS	Conflicting interpretations of pathogenicity	761385192	RCV000298139\|RCV000826109\|RCV001544508;	N	MedGen:CN517202\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902151	88902151	NC_000016.9:g.88902151C>T	ClinGen:CA247067,UniProtKB:P34059#VAR_007206	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.725C>G (p.Ser242Cys)	2588	GALNS	Uncertain significance	2143001380	RCV001578312;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902166	88902166	88902166	-
NM_000512.5(GALNS):c.723C>T (p.Ala241=)	2588	GALNS	Benign/Likely benign	117053987	RCV000250140\|RCV000675540\|RCV001079976;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902168	88902168	16:g.88902168G>A	ClinGen:CA8235013	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.722C>A (p.Ala241Asp)	2588	GALNS	Uncertain significance	2143001386	RCV001578311;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902169	88902169	88902169	-
NM_000512.5(GALNS):c.715G>T (p.Val239Phe)	2588	GALNS	Conflicting interpretations of pathogenicity	145131011	RCV001578309;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902176	88902176	88902176	-
NM_000512.5(GALNS):c.715G>A (p.Val239Ile)	2588	GALNS	Uncertain significance	145131011	RCV001944632;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902176	88902176	88902176	-
NM_000512.5(GALNS):c.709G>A (p.Ala237Thr)	2588	GALNS	Uncertain significance	550139020	RCV001058432;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902182	88902182	16:g.88902182C>T	-
NM_000512.5(GALNS):c.708C>T (p.His236=)	2588	GALNS	Benign	1064315	RCV000079044\|RCV000368346\|RCV000675541;	N	MedGen:CN169374\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88902183	88902183	16:g.88902183G>A	ClinGen:CA146726	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.707_708inv (p.His236Arg)	2588	GALNS	Uncertain significance	-1	RCV001906790;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902183	88902184	88902183	-
NM_000512.5(GALNS):c.707A>G (p.His236Arg)	2588	GALNS	Conflicting interpretations of pathogenicity	398123441	RCV000079043\|RCV001578306\|RCV001731366;	N	MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:CN169374	16	88902184	88902184	16:g.88902184T>C	ClinGen:CA221061	CN169374 not specified;
NM_000512.5(GALNS):c.706C>G (p.His236Asp)	2588	GALNS	Uncertain significance	1228027865	RCV001578304;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902185	88902185	88902185	-
NM_000512.5(GALNS):c.704C>T (p.Thr235Met)	2588	GALNS	Uncertain significance	-1	RCV002651138;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902187	88902187	NC_000016.9:g.88902187G>A	-
NM_000512.5(GALNS):c.700G>A (p.Ala234Thr)	2588	GALNS	Uncertain significance	368603508	RCV001319632;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902191	88902191	88902191	-
NM_000512.5(GALNS):c.699C>T (p.Asp233=)	2588	GALNS	Likely benign	374694424	RCV002065649;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902192	88902192	16:g.88902192G>A	-
NM_000512.5(GALNS):c.692C>G (p.Ala231Gly)	2588	GALNS	Benign	34745339	RCV000079041\|RCV000675542\|RCV000999970;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902199	88902199	16:g.88902199G>C	ClinGen:CA146724,UniProtKB:P34059#VAR_007205	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.692C>T (p.Ala231Val)	2588	GALNS	Uncertain significance	-1	RCV002766789;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902199	88902199	NC_000016.9:g.88902199G>A	-
NM_000512.5(GALNS):c.690G>T (p.Trp230Cys)	2588	GALNS	Uncertain significance	2143001410	RCV001578301;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902201	88902201	88902201	-
NM_000512.5(GALNS):c.688T>G (p.Trp230Gly)	2588	GALNS	Uncertain significance	2143001411	RCV001578577;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902203	88902203	88902203	-
NM_000512.5(GALNS):c.686A>C (p.Tyr229Ser)	2588	GALNS	Uncertain significance	554190546	RCV001578576;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902205	88902205	88902205	-
NM_000512.5(GALNS):c.676T>C (p.Phe226Leu)	2588	GALNS	Uncertain significance	1375452799	RCV001578574;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902215	88902215	88902215	-
NM_000512.5(GALNS):c.665G>A (p.Arg222Gln)	2588	GALNS	Conflicting interpretations of pathogenicity	140162658	RCV000179765\|RCV000310050;	N	MedGen:CN517202\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902226	88902226	16:g.88902226C>T	ClinGen:CA247068	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.664C>T (p.Arg222Trp)	2588	GALNS	Uncertain significance	146963745	RCV000814925;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902227	88902227	16:g.88902227G>A	-
NM_000512.5(GALNS):c.663A>T (p.Ala221=)	2588	GALNS	Likely benign	749077864	RCV002109067;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902228	88902228	88902228	-
NM_000512.5(GALNS):c.641T>C (p.Leu214Pro)	2588	GALNS	Uncertain significance	771810111	RCV000690528;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902250	88902250	NC_000016.9:g.88902250A>G	-	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.640C>G (p.Leu214Val)	2588	GALNS	Uncertain significance	1424752390	RCV002001888;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902251	88902251	88902251	-
NM_000512.5(GALNS):c.638C>T (p.Ala213Val)	2588	GALNS	Conflicting interpretations of pathogenicity	770239604	RCV001578570;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902253	88902253	88902253	-
NM_000512.5(GALNS):c.634-5C>G	2588	GALNS	Uncertain significance	1354095513	RCV002047986;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902262	88902262	88902262	-
NM_000512.5(GALNS):c.634-13G>A	2588	GALNS	Likely benign	372009899	RCV002116718;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902270	88902270	88902270	-
NM_000512.5(GALNS):c.634-19G>A	2588	GALNS	Benign	12934499	RCV000079039\|RCV000675543\|RCV001518289;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902276	88902276	16:g.88902276C>T	ClinGen:CA146722	CN517202 not provided;
NM_000512.5(GALNS):c.634-20C>T	2588	GALNS	Benign	17603837	RCV000079040\|RCV000601822\|RCV000675544;	N	MedGen:CN169374\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88902277	88902277	16:g.88902277G>A	ClinGen:CA146723	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.633+13G>C	2588	GALNS	Conflicting interpretations of pathogenicity	200292757	RCV000362450;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902596	88902596	NC_000016.9:g.88902596C>G	ClinGen:CA8235072	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.633+13G>A	2588	GALNS	Likely benign	-1	RCV002629723;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902596	88902596	NC_000016.9:g.88902596C>T	-
NM_000512.5(GALNS):c.633+12C>T	2588	GALNS	Likely benign	199726408	RCV002111916;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902597	88902597	88902597	-
NM_000512.5(GALNS):c.628C>T (p.Leu210=)	2588	GALNS	Likely benign	780787351	RCV002065515;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902614	88902614	16:g.88902614G>A	-
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser)	2588	GALNS	Conflicting interpretations of pathogenicity	569725936	RCV000431100\|RCV001861541\|RCV002272233;	N	MedGen:CN517202\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528, Orphanet:364526	16	88902631	88902631	16:g.88902631T>C	ClinGen:CA8235078	CN517202 not provided;
NM_000512.5(GALNS):c.609C>T (p.Ala203=)	2588	GALNS	Likely benign	-1	RCV003067100;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902633	88902633		-
NM_000512.5(GALNS):c.608C>T (p.Ala203Val)	2588	GALNS	Uncertain significance	2143001722	RCV001578519;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902634	88902634	88902634	-
NM_000512.5(GALNS):c.600G>A (p.Thr200=)	2588	GALNS	Likely benign	-1	RCV002633982;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902642	88902642		-
NM_000512.5(GALNS):c.599C>T (p.Thr200Met)	2588	GALNS	Benign	7187889	RCV000179317\|RCV000527735\|RCV000675546;	N	MedGen:CN169374\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88902643	88902643	16:g.88902643G>A	ClinGen:CA203231,UniProtKB:P34059#VAR_007202	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.597G>A (p.Lys199=)	2588	GALNS	Likely benign	1293689169	RCV001466102;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902645	88902645	88902645	-
NM_000512.5(GALNS):c.587T>A (p.Ile196Asn)	2588	GALNS	Uncertain significance	759502513	RCV001959516;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902655	88902655	88902655	-
NM_000512.5(GALNS):c.578A>G (p.Glu193Gly)	2588	GALNS	Uncertain significance	1427663367	RCV001578518;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902664	88902664	88902664	-
NM_000512.5(GALNS):c.572A>G (p.Tyr191Cys)	2588	GALNS	Uncertain significance	2143001742	RCV001578517;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902670	88902670	88902670	-
NM_000512.5(GALNS):c.571T>G (p.Tyr191Asp)	2588	GALNS	Conflicting interpretations of pathogenicity	2143001744	RCV001578516;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902671	88902671	88902671	-
NM_000512.5(GALNS):c.567-3C>T	2588	GALNS	Conflicting interpretations of pathogenicity	549597016	RCV001521417;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88902678	88902678	88902678	-
NM_000512.5(GALNS):c.566+13C>T	2588	GALNS	Likely benign	-1	RCV002780576;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904017	88904017	NC_000016.9:g.88904017G>A	-
NM_000512.5(GALNS):c.566+12C>T	2588	GALNS	Likely benign	-1	RCV003024294;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904018	88904018	NC_000016.9:g.88904018G>A	-
NM_000512.5(GALNS):c.566+11C>T	2588	GALNS	Likely benign	-1	RCV003086254;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904019	88904019	NC_000016.9:g.88904019G>A	-
NM_000512.5(GALNS):c.566+10C>T	2588	GALNS	Benign	77514811	RCV000675548\|RCV001087873;	N	MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904020	88904020	NC_000016.9:g.88904020G>A	ClinGen:CA8235109	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.566+6G>A	2588	GALNS	Uncertain significance	1912274502	RCV001315313;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904024	88904024	88904024	-
NM_000512.5(GALNS):c.566+5T>C	2588	GALNS	Benign	3743545	RCV000633466;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904025	88904025	NC_000016.9:g.88904025A>G	ClinGen:CA8235110	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.563G>A (p.Gly188Asp)	2588	GALNS	Uncertain significance	2143002315	RCV001578512;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904033	88904033	88904033	-
NM_000512.5(GALNS):c.562G>A (p.Gly188Ser)	2588	GALNS	Conflicting interpretations of pathogenicity	2143002317	RCV001578511;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904034	88904034	88904034	-
NM_000512.5(GALNS):c.554A>G (p.Glu185Gly)	2588	GALNS	Uncertain significance	2143002324	RCV001578393;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904042	88904042	88904042	-
NM_000512.5(GALNS):c.547G>T (p.Asp183Tyr)	2588	GALNS	Conflicting interpretations of pathogenicity	2143002331	RCV001578391;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904049	88904049	88904049	-
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys)	2588	GALNS	Conflicting interpretations of pathogenicity	786205899	RCV000172874;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904054	88904054	NC_000016.9:g.88904054T>C	ClinGen:CA274846	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.536C>T (p.Pro179Leu)	2588	GALNS	Uncertain significance	1912278519	RCV001578390;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904060	88904060	88904060	-
NM_000512.5(GALNS):c.536C>A (p.Pro179His)	2588	GALNS	Uncertain significance	1912278519	RCV001578389;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904060	88904060	88904060	-
NM_000512.5(GALNS):c.535C>T (p.Pro179Ser)	2588	GALNS	Uncertain significance	2143002341	RCV001578388;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904061	88904061	88904061	-
NM_000512.5(GALNS):c.530A>G (p.Asn177Ser)	2588	GALNS	Uncertain significance	2143002347	RCV001578386;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904066	88904066	88904066	-
NM_000512.5(GALNS):c.529A>C (p.Asn177His)	2588	GALNS	Uncertain significance	2143002349	RCV001578385;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904067	88904067	88904067	-
NM_000512.5(GALNS):c.522C>G (p.Ala174=)	2588	GALNS	Likely benign	891821999	RCV002192855;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904074	88904074	88904074	-
NM_000512.5(GALNS):c.513CAA[1] (p.Asn172del)	2588	GALNS	Uncertain significance	-1	RCV003076047;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904078	88904080	NC_000016.9:g.88904079TGT[1]	-
NM_000512.5(GALNS):c.512A>C (p.Asp171Ala)	2588	GALNS	Uncertain significance	2143002367	RCV001578384;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904084	88904084	88904084	-
NM_000512.5(GALNS):c.510T>C (p.Tyr170=)	2588	GALNS	Benign	3743544	RCV000079038\|RCV000264801\|RCV000675549;	N	MedGen:CN169374\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88904086	88904086	16:g.88904086A>G	ClinGen:CA146720	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.508T>C (p.Tyr170His)	2588	GALNS	Uncertain significance	2143002372	RCV001578383;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904088	88904088	88904088	-
NM_000512.5(GALNS):c.503G>T (p.Gly168Val)	2588	GALNS	Uncertain significance	2143002375	RCV001578382;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904093	88904093	88904093	-
NM_000512.5(GALNS):c.502_503delinsTT (p.Gly168Leu)	2588	GALNS	Uncertain significance	2143002376	RCV001578380;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904093	88904094	88904093	-
NM_000512.5(GALNS):c.499T>G (p.Phe167Val)	2588	GALNS	Conflicting interpretations of pathogenicity	148565559	RCV000322011\|RCV001280624\|RCV002254293;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582\|MedGen:C3661900	16	88904097	88904097	NC_000016.9:g.88904097A>C	ClinGen:CA8235120,UniProtKB:P34059#VAR_024893	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.498C>G (p.His166Gln)	2588	GALNS	Conflicting interpretations of pathogenicity	1301198698	RCV001250221\|RCV003387984;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582	16	88904098	88904098	16:g.88904098G>C	-
NM_000512.5(GALNS):c.497A>G (p.His166Arg)	2588	GALNS	Uncertain significance	2143002394	RCV001578299;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904099	88904099	88904099	-
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr)	2588	GALNS	Conflicting interpretations of pathogenicity	761725425	RCV000989653;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904105	88904105	16:g.88904105T>G	-
NM_000512.5(GALNS):c.491A>G (p.Asn164Ser)	2588	GALNS	Conflicting interpretations of pathogenicity	761725425	RCV001578297;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904105	88904105	88904105	-
NM_000512.5(GALNS):c.488C>A (p.Pro163His)	2588	GALNS	Uncertain significance	2143002411	RCV001578296;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904108	88904108	88904108	-
NM_000512.5(GALNS):c.488C>T (p.Pro163Leu)	2588	GALNS	Uncertain significance	-1	RCV003130979;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904108	88904108	NC_000016.9:g.88904108G>A	-
NM_000512.5(GALNS):c.482G>A (p.Gly161Glu)	2588	GALNS	Uncertain significance	2143002420	RCV001578295;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904114	88904114	88904114	-
NM_000512.5(GALNS):c.477G>T (p.Trp159Cys)	2588	GALNS	Uncertain significance	398123439	RCV001578294;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904119	88904119	88904119	-
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys)	2588	GALNS	Conflicting interpretations of pathogenicity	1301146300	RCV000761302;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904129	88904129	NC_000016.9:g.88904129A>C	-
NM_000512.5(GALNS):c.467T>C (p.Phe156Ser)	2588	GALNS	Uncertain significance	1301146300	RCV001578565;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904129	88904129	88904129	-
NM_000512.5(GALNS):c.464G>A (p.Gly155Glu)	2588	GALNS	Conflicting interpretations of pathogenicity	2143002437	RCV001578564;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904132	88904132	88904132	-
NM_000512.5(GALNS):c.462C>T (p.His154=)	2588	GALNS	Likely benign	-1	RCV002942316;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904134	88904134		-
NM_000512.5(GALNS):c.453C>A (p.Pro151=)	2588	GALNS	Likely benign	752021223	RCV002120200;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904143	88904143	88904143	-
NM_000512.5(GALNS):c.452C>G (p.Pro151Arg)	2588	GALNS	Uncertain significance	559063128	RCV001578562;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904144	88904144	88904144	-
NM_000512.5(GALNS):c.451C>T (p.Pro151Ser)	2588	GALNS	Uncertain significance	781439830	RCV001578561;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904145	88904145	88904145	-
NM_000512.5(GALNS):c.450C>T (p.His150=)	2588	GALNS	Likely benign	-1	RCV002649432;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904146	88904146		-
NM_000512.5(GALNS):c.448C>T (p.His150Tyr)	2588	GALNS	Conflicting interpretations of pathogenicity	1168278189	RCV001578560;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904148	88904148	88904148	-
NM_000512.5(GALNS):c.446T>G (p.Phe149Cys)	2588	GALNS	Uncertain significance	2143002458	RCV001890532;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904150	88904150	88904150	-
NM_000512.5(GALNS):c.441C>T (p.Pro147=)	2588	GALNS	Likely benign	756456652	RCV002167414;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904155	88904155	88904155	-
NM_000512.5(GALNS):c.426T>A (p.His142Gln)	2588	GALNS	Conflicting interpretations of pathogenicity	754616917	RCV001578557;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904170	88904170	88904170	-
NM_000512.5(GALNS):c.425A>G (p.His142Arg)	2588	GALNS	Conflicting interpretations of pathogenicity	1288895691	RCV001349763\|RCV001531861;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88904171	88904171	88904171	-
NM_000512.5(GALNS):c.424C>A (p.His142Asn)	2588	GALNS	Uncertain significance	2143002472	RCV001578555;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904172	88904172	88904172	-
NM_000512.5(GALNS):c.423G>T (p.Trp141Cys)	2588	GALNS	Uncertain significance	2143002473	RCV001578509;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904173	88904173	88904173	-
NM_000512.5(GALNS):c.423-8G>C	2588	GALNS	Likely benign	111613055	RCV002214860;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904181	88904181	88904181	-
NM_000512.5(GALNS):c.423-8G>A	2588	GALNS	Likely benign	-1	RCV002628129;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904181	88904181	NC_000016.9:g.88904181C>T	-
NM_000512.5(GALNS):c.423-16G>A	2588	GALNS	Uncertain significance	-1	RCV003036698;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88904189	88904189	NC_000016.9:g.88904189C>T	-
NM_000512.5(GALNS):c.422+17C>T	2588	GALNS	Likely benign	748212930	RCV002162806;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907383	88907383	88907383	-
NM_000512.5(GALNS):c.422+2dup	2588	GALNS	Uncertain significance	2143004586	RCV001578506;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907397	88907398	88907397	-
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg)	2588	GALNS	Conflicting interpretations of pathogenicity	794727625	RCV000178107\|RCV000282371;	N	MedGen:CN517202\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907401	88907401	16:g.88907401A>T	ClinGen:CA275246,UniProtKB:P34059#VAR_007190	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.416G>A (p.Gly139Asp)	2588	GALNS	Uncertain significance	2143004596	RCV001578502;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907406	88907406	88907406	-
NM_000512.5(GALNS):c.414C>G (p.Val138=)	2588	GALNS	Likely benign	-1	RCV002766597;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907408	88907408		-
NM_000512.4(GALNS):c.413T>C (p.Val138Ala)	2588	GALNS	Uncertain significance	118204436	RCV000000734;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907409	88907409	16:g.88907409A>G	ClinGen:CA251564,UniProtKB:P34059#VAR_007188,OMIM:612222.0002	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.412G>A (p.Val138Ile)	2588	GALNS	Likely benign	140018158	RCV001936520;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907410	88907410	88907410	-
NM_000512.5(GALNS):c.406A>C (p.Lys136Gln)	2588	GALNS	Uncertain significance	750953060	RCV001578499;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907416	88907416	88907416	-
NM_000512.5(GALNS):c.405C>G (p.Ser135Arg)	2588	GALNS	Uncertain significance	2143004605	RCV001578379;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907417	88907417	88907417	-
NM_000512.5(GALNS):c.399C>T (p.Tyr133=)	2588	GALNS	Likely benign	761206910	RCV002144222;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907423	88907423	88907423	-
NM_000512.5(GALNS):c.398A>C (p.Tyr133Ser)	2588	GALNS	Uncertain significance	1379268067	RCV001578378;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907424	88907424	88907424	-
NM_000512.5(GALNS):c.394G>A (p.Gly132Ser)	2588	GALNS	Uncertain significance	766859208	RCV001906455;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907428	88907428	88907428	-
NM_000512.5(GALNS):c.376G>C (p.Glu126Gln)	2588	GALNS	Uncertain significance	1177468816	RCV000791521;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907446	88907446	16:g.88907446C>G	-
NM_000512.5(GALNS):c.374C>A (p.Pro125Gln)	2588	GALNS	Uncertain significance	746949976	RCV002271793\|RCV003445156;	N	MedGen:CN169374\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907448	88907448	88907448	-
NM_000512.5(GALNS):c.363G>C (p.Glu121Asp)	2588	GALNS	Uncertain significance	780986116	RCV001578375;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907459	88907459	88907459	-
NM_000512.5(GALNS):c.360G>A (p.Ser120=)	2588	GALNS	Likely benign	368060807	RCV002073561;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907462	88907462	88907462	-
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu)	2588	GALNS	Conflicting interpretations of pathogenicity	112454391	RCV000534418;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907463	88907463	16:g.88907463G>A	ClinGen:CA8235187	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.332A>G (p.Gln111Arg)	2588	GALNS	Uncertain significance	2143004671	RCV001578371;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907490	88907490	88907490	-
NM_000512.5(GALNS):c.330G>A (p.Pro110=)	2588	GALNS	Likely benign	374355420	RCV001466248;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907492	88907492	16:g.88907492C>T	-
NM_000512.5(GALNS):c.327A>C (p.Thr109=)	2588	GALNS	Likely benign	759916392	RCV002106873;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907495	88907495	88907495	-
NM_000512.5(GALNS):c.326C>T (p.Thr109Ile)	2588	GALNS	Uncertain significance	2143004681	RCV001578370;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907496	88907496	88907496	-
NM_000512.5(GALNS):c.324C>T (p.Tyr108=)	2588	GALNS	Conflicting interpretations of pathogenicity	150582627	RCV000954755\|RCV003334031;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88907498	88907498	16:g.88907498G>A	-
NM_000512.5(GALNS):c.323A>G (p.Tyr108Cys)	2588	GALNS	Uncertain significance	1256041500	RCV001578292;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907499	88907499	88907499	-
NM_000512.5(GALNS):c.320-7C>T	2588	GALNS	Likely benign	-1	RCV002640712;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907509	88907509	NC_000016.9:g.88907509G>A	-
NM_000512.5(GALNS):c.320-13G>A	2588	GALNS	Likely benign	113186480	RCV002140937;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88907515	88907515	88907515	-
NC_000016.9:g.(?_88908285)_(88908399_?)dup	2588	GALNS	Uncertain significance	-1	RCV003111323;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908285	88908399		-
NM_000512.5(GALNS):c.319+15G>T	2588	GALNS	Conflicting interpretations of pathogenicity	777179922	RCV000177076\|RCV002054086;	N	MedGen:CN517202\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908290	88908290	16:g.88908290C>A	ClinGen:CA243181	CN169374 not specified;
NM_000512.5(GALNS):c.319G>T (p.Ala107Ser)	2588	GALNS	Uncertain significance	763184657	RCV001578289;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908305	88908305	88908305	-
NM_000512.5(GALNS):c.319G>C (p.Ala107Pro)	2588	GALNS	Uncertain significance	763184657	RCV001578290;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908305	88908305	88908305	-
NM_000512.5(GALNS):c.318C>T (p.Asn106=)	2588	GALNS	Benign	34278797	RCV000244366\|RCV000373575\|RCV000675550;	N	MedGen:CN169374\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88908306	88908306	16:g.88908306G>A	ClinGen:CA8235215	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.317A>G (p.Asn106Ser)	2588	GALNS	Uncertain significance	2143005070	RCV001578287;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908307	88908307	88908307	-
NM_000512.5(GALNS):c.313A>G (p.Arg105Gly)	2588	GALNS	Uncertain significance	2143005072	RCV001578286;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908311	88908311	88908311	-
NM_000512.5(GALNS):c.309T>C (p.His103=)	2588	GALNS	Likely benign	-1	RCV003090340;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908315	88908315		-
NM_000512.5(GALNS):c.306C>T (p.Ala102=)	2588	GALNS	Likely benign	-1	RCV002953020\|RCV003427530;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88908318	88908318		-
NM_000512.5(GALNS):c.304G>A (p.Ala102Thr)	2588	GALNS	Uncertain significance	372585484	RCV001975937;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908320	88908320	88908320	-
NM_000512.5(GALNS):c.303C>T (p.Asn101=)	2588	GALNS	Conflicting interpretations of pathogenicity	79146426	RCV000895224;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908321	88908321	16:g.88908321G>A	-
NM_000512.5(GALNS):c.298A>C (p.Thr100Pro)	2588	GALNS	Uncertain significance	1597581827	RCV001578285;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908326	88908326	88908326	-
NM_000512.5(GALNS):c.296C>T (p.Thr99Ile)	2588	GALNS	Uncertain significance	2143005081	RCV001578284;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908328	88908328	88908328	-
NM_000512.5(GALNS):c.289T>G (p.Phe97Val)	2588	GALNS	Uncertain significance	2143005083	RCV001578283;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908335	88908335	88908335	-
NM_000512.5(GALNS):c.287G>T (p.Gly96Val)	2588	GALNS	Uncertain significance	1966992597	RCV001578282;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908337	88908337	88908337	-
NM_000512.5(GALNS):c.286G>T (p.Gly96Cys)	2588	GALNS	Conflicting interpretations of pathogenicity	2143005086	RCV001578281;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908338	88908338	88908338	-
NM_000512.5(GALNS):c.281G>A (p.Arg94His)	2588	GALNS	Conflicting interpretations of pathogenicity	727503946	RCV000153304\|RCV001294423\|RCV003155092;	N	MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582	16	88908343	88908343	16:g.88908343C>T	ClinGen:CA234076	CN169374 not specified;
NM_000512.5(GALNS):c.278T>C (p.Ile93Thr)	2588	GALNS	Uncertain significance	1966993165	RCV001578553;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908346	88908346	88908346	-
NM_000512.5(GALNS):c.278T>A (p.Ile93Asn)	2588	GALNS	Uncertain significance	1966993165	RCV001578554;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908346	88908346	88908346	-
NM_000512.5(GALNS):c.274C>T (p.Pro92Ser)	2588	GALNS	Uncertain significance	2143005097	RCV001578552;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908350	88908350	88908350	-
NM_000512.5(GALNS):c.272T>C (p.Leu91Pro)	2588	GALNS	Uncertain significance	2143005099	RCV001578551;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908352	88908352	88908352	-
NM_000512.5(GALNS):c.269G>A (p.Arg90Gln)	2588	GALNS	Conflicting interpretations of pathogenicity	754731091	RCV002036783\|RCV003323974;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:CN169374	16	88908355	88908355	88908355	-
NM_000512.5(GALNS):c.268C>G (p.Arg90Gly)	2588	GALNS	Uncertain significance	1028668536	RCV001578550;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908356	88908356	88908356	-
NM_000512.5(GALNS):c.263C>T (p.Thr88Ile)	2588	GALNS	Uncertain significance	2143005111	RCV001578548;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908361	88908361	88908361	-
NM_000512.5(GALNS):c.260T>C (p.Leu87Pro)	2588	GALNS	Uncertain significance	1418948853	RCV001578547;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908364	88908364	88908364	-
NM_000512.5(GALNS):c.257T>C (p.Leu86Pro)	2588	GALNS	Uncertain significance	2143005116	RCV001578546;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908367	88908367	88908367	-
NM_000512.5(GALNS):c.256C>T (p.Leu86=)	2588	GALNS	Uncertain significance	190707335	RCV001121176;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908368	88908368	16:g.88908368G>A	-
NM_000512.5(GALNS):c.253G>A (p.Ala85Thr)	2588	GALNS	Uncertain significance	2143005122	RCV001578545;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908371	88908371	88908371	-
NM_000512.5(GALNS):c.252G>A (p.Ala84=)	2588	GALNS	Likely benign	377250967	RCV000780274\|RCV002067367;	N	MedGen:CN169374\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908372	88908372	NC_000016.9:g.88908372C>T	-
NM_000512.5(GALNS):c.252G>C (p.Ala84=)	2588	GALNS	Likely benign	-1	RCV003075530;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908372	88908372		-
NM_000512.5(GALNS):c.251C>A (p.Ala84Glu)	2588	GALNS	Conflicting interpretations of pathogenicity	141340188	RCV001578544;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908373	88908373	88908373	-
NM_000512.5(GALNS):c.251C>T (p.Ala84Val)	2588	GALNS	Uncertain significance	141340188	RCV001943834;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908373	88908373	88908373	-
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu)	2588	GALNS	Conflicting interpretations of pathogenicity	371429653	RCV000079033\|RCV001352891\|RCV002271402;	N	MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582	16	88908379	88908379	16:g.88908379G>A	ClinGen:CA221053	CN169374 not specified;
NM_000512.5(GALNS):c.245-4A>G	2588	GALNS	Likely benign	-1	RCV002605689;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908383	88908383	NC_000016.9:g.88908383T>C	-
NM_000512.5(GALNS):c.245-7C>T	2588	GALNS	Likely benign	-1	RCV003080046;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908386	88908386	NC_000016.9:g.88908386G>A	-
NM_000512.5(GALNS):c.245-11C>G	2588	GALNS	Uncertain significance	552476248	RCV001578498;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908390	88908390	88908390	-
NM_000512.5(GALNS):c.245-11C>T	2588	GALNS	Uncertain significance	552476248	RCV002044824;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88908390	88908390	88908390	-
NM_000512.5(GALNS):c.244+49C>T	2588	GALNS	Benign	13334220	RCV000593993\|RCV001800817\|RCV001637096;	N	MedGen:CN169374\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88909065	88909065	16:g.88909065G>A	ClinGen:CA8235244	CN169374 not specified;
NM_000512.5(GALNS):c.244+20G>A	2588	GALNS	Likely benign	373227121	RCV002197945;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909094	88909094	88909094	-
NM_000512.5(GALNS):c.244+19C>T	2588	GALNS	Benign	35137494	RCV000079032\|RCV000675551\|RCV001518290;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909095	88909095	16:g.88909095G>A	ClinGen:CA146719	CN517202 not provided;
NM_000512.5(GALNS):c.244T>C (p.Ser82Pro)	2588	GALNS	Uncertain significance	1338871013	RCV001578496;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909114	88909114	88909114	-
NM_000512.5(GALNS):c.243A>G (p.Pro81=)	2588	GALNS	Likely benign	759476855	RCV000808008;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909115	88909115	16:g.88909115T>C	-
NM_000512.5(GALNS):c.241C>T (p.Pro81Ser)	2588	GALNS	Uncertain significance	765151762	RCV001350298;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909117	88909117	88909117	-
NM_000512.5(GALNS):c.240G>A (p.Ser80=)	2588	GALNS	Benign/Likely benign	11865929	RCV000633467\|RCV001618562;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88909118	88909118	NC_000016.9:g.88909118C>T	ClinGen:CA8235257	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.239C>G (p.Ser80Trp)	2588	GALNS	Uncertain significance	1209154325	RCV001578494;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909119	88909119	88909119	-
NM_000512.5(GALNS):c.229C>T (p.Pro77Ser)	2588	GALNS	Uncertain significance	201278722	RCV001578490;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909129	88909129	88909129	-
NM_000512.5(GALNS):c.228C>G (p.Asn76Lys)	2588	GALNS	Uncertain significance	147599478	RCV001578489;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909130	88909130	88909130	-
NM_000512.5(GALNS):c.224C>G (p.Ala75Gly)	2588	GALNS	Uncertain significance	2143005473	RCV001578488;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909134	88909134	88909134	-
NM_000512.5(GALNS):c.221C>T (p.Ser74Phe)	2588	GALNS	Uncertain significance	2143005475	RCV001578487;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909137	88909137	88909137	-
NM_000512.5(GALNS):c.210_221del (p.Asn71_Ser74del)	2588	GALNS	Uncertain significance	2143005478	RCV001578369;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909137	88909148	88909136	-
NM_000512.5(GALNS):c.218A>G (p.Tyr73Cys)	2588	GALNS	Conflicting interpretations of pathogenicity	398123435	RCV000079031\|RCV001578486;	N	MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909140	88909140	16:g.88909140T>C	ClinGen:CA221051	CN169374 not specified;
NM_000512.5(GALNS):c.213C>G (p.Asn71Lys)	2588	GALNS	Uncertain significance	-1	RCV002943999;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909145	88909145	NC_000016.9:g.88909145G>C	-
NM_000512.5(GALNS):c.211A>G (p.Asn71Asp)	2588	GALNS	Uncertain significance	-1	RCV003104685;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909147	88909147	NC_000016.9:g.88909147T>C	-
NM_000512.5(GALNS):c.205T>G (p.Phe69Val)	2588	GALNS	Uncertain significance	118204445	RCV000000745;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909153	88909153	16:g.88909153A>C	ClinGen:CA251572,UniProtKB:P34059#VAR_024882,OMIM:612222.0012	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.199C>A (p.Leu67Met)	2588	GALNS	Benign	11862754	RCV000079030\|RCV000560366\|RCV000675552;	N	MedGen:CN169374\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88909159	88909159	16:g.88909159G>T	ClinGen:CA146717,UniProtKB:P34059#VAR_007174	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.196G>C (p.Gly66Arg)	2588	GALNS	Uncertain significance	1967035346	RCV001578368;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909162	88909162	88909162	-
NM_000512.5(GALNS):c.190_191delinsAT (p.Ala64Ile)	2588	GALNS	Uncertain significance	2143005495	RCV001578367;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909167	88909168	88909167	-
NM_000512.5(GALNS):c.184A>T (p.Met62Leu)	2588	GALNS	Uncertain significance	1367462378	RCV001999101;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909174	88909174	88909174	-
NM_000512.5(GALNS):c.181C>G (p.Arg61Gly)	2588	GALNS	Uncertain significance	145798311	RCV001934677;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909177	88909177	88909177	-
NM_000512.5(GALNS):c.177G>A (p.Leu59=)	2588	GALNS	Uncertain significance	-1	RCV003135318;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909181	88909181		-
NM_000512.5(GALNS):c.173A>G (p.Asn58Ser)	2588	GALNS	Uncertain significance	-1	RCV003031258;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909185	88909185	NC_000016.9:g.88909185T>C	-
NM_000512.5(GALNS):c.171G>A (p.Pro57=)	2588	GALNS	Likely benign	-1	RCV003060445;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909187	88909187		-
NM_000512.5(GALNS):c.170C>T (p.Pro57Leu)	2588	GALNS	Uncertain significance	-1	RCV002921909;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909188	88909188	NC_000016.9:g.88909188G>A	-
NM_000512.5(GALNS):c.168C>G (p.Thr56=)	2588	GALNS	Likely benign	368128023	RCV000918681;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909190	88909190	16:g.88909190G>C	-
NM_000512.5(GALNS):c.167C>A (p.Thr56Asn)	2588	GALNS	Uncertain significance	1967037775	RCV001338926;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909191	88909191	88909191	-
NM_000512.5(GALNS):c.154_165del (p.Pro52_Glu55del)	2588	GALNS	Uncertain significance	2143005515	RCV001578365;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909193	88909204	88909192	-
NM_000512.5(GALNS):c.158C>T (p.Ser53Phe)	2588	GALNS	Uncertain significance	1421990673	RCV001578366;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909200	88909200	88909200	-
NM_000512.5(GALNS):c.155C>T (p.Pro52Leu)	2588	GALNS	Conflicting interpretations of pathogenicity	2143005523	RCV001382244;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909203	88909203	88909203	-
NM_000512.5(GALNS):c.148G>A (p.Gly50Arg)	2588	GALNS	Uncertain significance	2143005530	RCV001578363;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909210	88909210	88909210	-
NM_000512.5(GALNS):c.143T>C (p.Val48Ala)	2588	GALNS	Conflicting interpretations of pathogenicity	191519947	RCV001807887\|RCV001844415;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:CN169374	16	88909215	88909215	88909215	-
NM_000512.5(GALNS):c.142G>A (p.Val48Met)	2588	GALNS	Uncertain significance	1377186614	RCV001578361;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909216	88909216	88909216	-
NM_000512.5(GALNS):c.139G>C (p.Gly47Arg)	2588	GALNS	Uncertain significance	199638097	RCV001578360;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909219	88909219	88909219	-
NM_000512.5(GALNS):c.138C>T (p.Leu46=)	2588	GALNS	Likely benign	140588640	RCV001504167\|RCV003458068;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88909220	88909220	88909220	-
NM_000512.5(GALNS):c.134A>G (p.Asp45Gly)	2588	GALNS	Uncertain significance	1967040455	RCV001578485;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909224	88909224	88909224	-
NM_000512.5(GALNS):c.131G>T (p.Gly44Val)	2588	GALNS	Uncertain significance	1237852382	RCV001578484;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909227	88909227	88909227	-
NM_000512.5(GALNS):c.125G>A (p.Gly42Glu)	2588	GALNS	Uncertain significance	2143005560	RCV001578483;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909233	88909233	88909233	-
NM_000512.5(GALNS):c.122T>A (p.Met41Lys)	2588	GALNS	Conflicting interpretations of pathogenicity	1555523411	RCV000624617\|RCV001578482;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909236	88909236	16:g.88909236A>T	ClinGen:CA397092190	C0950123 Inborn genetic diseases;
NM_000512.5(GALNS):c.121-4G>A	2588	GALNS	Conflicting interpretations of pathogenicity	200008960	RCV000294355;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909241	88909241	NC_000016.9:g.88909241C>T	ClinGen:CA8235281	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.121-6C>T	2588	GALNS	Likely benign	-1	RCV003002682;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909243	88909243	NC_000016.9:g.88909243G>A	-
NM_000512.5(GALNS):c.121-7C>G	2588	GALNS	Uncertain significance	1004936255	RCV001172401;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909244	88909244	16:g.88909244G>C	-
NM_000512.5(GALNS):c.121-9T>G	2588	GALNS	Uncertain significance	2143005573	RCV001578477;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909246	88909246	88909246	-
NM_000512.5(GALNS):c.121-16G>T	2588	GALNS	Likely benign	113230137	RCV002120004;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909253	88909253	88909253	-
NM_000512.5(GALNS):c.121-16G>A	2588	GALNS	Likely benign	-1	RCV003080248;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909253	88909253	NC_000016.9:g.88909253C>T	-
NM_000512.5(GALNS):c.121-18C>T	2588	GALNS	Likely benign	200396173	RCV002139235;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909255	88909255	88909255	-
NM_000512.5(GALNS):c.121-31T>C	2588	GALNS	Uncertain significance	776895500	RCV001578476;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909268	88909268	88909268	-
NM_000512.5(GALNS):c.121-157C>T	2588	GALNS	Uncertain significance	-1	RCV003130981;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909394	88909394	NC_000016.9:g.88909394G>A	-
NM_000512.5(GALNS):c.121-202A>G	2588	GALNS	Uncertain significance	550044789	RCV001809074;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88909439	88909439	88909439	-
NM_000512.5(GALNS):c.121-210C>T	2588	GALNS	Conflicting interpretations of pathogenicity	75552025	RCV001578475\|RCV001557286;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88909447	88909447	88909447	-
NM_000512.5(GALNS):c.120+1532G>C	2588	GALNS	Benign	34150867	RCV000989654;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88921634	88921634	16:g.88921634C>G	-
NM_000512.5(GALNS):c.120+19A>C	2588	GALNS	Likely benign	-1	RCV002880763;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923147	88923147	NC_000016.9:g.88923147T>G	-
NM_000512.5(GALNS):c.120+14G>A	2588	GALNS	Likely benign	368397682	RCV002107835;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923152	88923152	88923152	-
NM_000512.5(GALNS):c.120+13G>A	2588	GALNS	Benign	-1	RCV003070794;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923153	88923153	NC_000016.9:g.88923153C>T	-
NM_000512.5(GALNS):c.120+4A>G	2588	GALNS	Uncertain significance	1213209894	RCV001038940;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923162	88923162	16:g.88923162T>C	-
NM_000512.5(GALNS):c.119A>G (p.Asp40Gly)	2588	GALNS	Uncertain significance	1967935467	RCV001578472;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923167	88923167	88923167	-
NM_000512.5(GALNS):c.118G>A (p.Asp40Asn)	2588	GALNS	Uncertain significance	1967935603	RCV001578359;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923168	88923168	88923168	-
NM_000512.5(GALNS):c.118G>T (p.Asp40Tyr)	2588	GALNS	Uncertain significance	-1	RCV003130978;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923168	88923168	NC_000016.9:g.88923168C>A	-
NM_000512.5(GALNS):c.115G>T (p.Asp39Tyr)	2588	GALNS	Uncertain significance	2143013504	RCV001578358;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923171	88923171	88923171	-
NM_000512.5(GALNS):c.112A>C (p.Met38Leu)	2588	GALNS	Uncertain significance	1306083557	RCV001983156;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923174	88923174	88923174	-
NM_000512.5(GALNS):c.100CTGCTC[1] (p.Leu36_Leu37del)	2588	GALNS	Conflicting interpretations of pathogenicity	794726887	RCV000173142\|RCV001578356\|RCV003330532;	N	MedGen:CN517202\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0018938,MedGen:C0026707, Orphanet:582	16	88923175	88923180	16:g.88923175_88923180del	ClinGen:CA274904	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.107T>C (p.Leu36Pro)	2588	GALNS	Uncertain significance	755832705	RCV001578357;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923179	88923179	88923179	-
NM_000512.5(GALNS):c.105C>G (p.Leu35=)	2588	GALNS	Likely benign	-1	RCV003090702;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923181	88923181		-
NM_000512.5(GALNS):c.100C>G (p.Leu34Val)	2588	GALNS	Uncertain significance	1352806619	RCV001968842;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923186	88923186	88923186	-
NM_000512.5(GALNS):c.97A>G (p.Ile33Val)	2588	GALNS	Uncertain significance	768296954	RCV001116254;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923189	88923189	16:g.88923189T>C	-
NM_000512.5(GALNS):c.95A>C (p.Asn32Thr)	2588	GALNS	Conflicting interpretations of pathogenicity	773933657	RCV001578355;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923191	88923191	88923191	-
NM_000512.5(GALNS):c.94A>G (p.Asn32Asp)	2588	GALNS	Uncertain significance	2143013538	RCV001578354;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923192	88923192	88923192	-
NM_000512.5(GALNS):c.90C>G (p.Pro30=)	2588	GALNS	Likely benign	1967938638	RCV002138630;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923196	88923196	88923196	-
NM_000512.5(GALNS):c.89C>T (p.Pro30Leu)	2588	GALNS	Uncertain significance	1298604798	RCV001116255;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923197	88923197	16:g.88923197G>A	-
NM_000512.5(GALNS):c.77G>A (p.Gly26Asp)	2588	GALNS	Uncertain significance	1210023208	RCV001342119;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923209	88923209	88923209	-
NM_000512.5(GALNS):c.75G>C (p.Ser25=)	2588	GALNS	Likely benign	-1	RCV003115703;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923211	88923211		-
NM_000512.5(GALNS):c.67G>C (p.Gly23Arg)	2588	GALNS	Uncertain significance	2143013593	RCV001578351;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923219	88923219	88923219	-
NM_000512.5(GALNS):c.66G>T (p.Met22Ile)	2588	GALNS	Uncertain significance	1427287935	RCV001046137;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923220	88923220	16:g.88923220C>A	-
NM_000512.5(GALNS):c.53G>C (p.Ser18Thr)	2588	GALNS	Uncertain significance	763093375	RCV000307369;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923233	88923233	NC_000016.9:g.88923233C>G	ClinGen:CA8235408	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.47T>A (p.Val16Glu)	2588	GALNS	Uncertain significance	794729202	RCV000184021;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923239	88923239	NC_000016.9:g.88923239A>T	ClinGen:CA275466,UniProtKB:P34059#VAR_071569	C0086651 253000 Mucopolysaccharidosis, MPS-IV-A;
NM_000512.5(GALNS):c.47T>G (p.Val16Gly)	2588	GALNS	Uncertain significance	794729202	RCV001885484;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923239	88923239	88923239	-
NM_000512.5(GALNS):c.46G>T (p.Val16Leu)	2588	GALNS	Uncertain significance	-1	RCV002775499;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923240	88923240	NC_000016.9:g.88923240C>A	-
NM_000512.5(GALNS):c.43C>A (p.Leu15Met)	2588	GALNS	Uncertain significance	866745731	RCV001578350;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923243	88923243	88923243	-
NM_000512.5(GALNS):c.39G>A (p.Leu13=)	2588	GALNS	Likely benign	767326423	RCV002211804;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923247	88923247	88923247	-
NM_000512.5(GALNS):c.31T>C (p.Trp11Arg)	2588	GALNS	Uncertain significance	-1	RCV003130980;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923255	88923255	NC_000016.9:g.88923255A>G	-
NM_000512.5(GALNS):c.23C>G (p.Thr8Arg)	2588	GALNS	Uncertain significance	2143013653	RCV001978894;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923263	88923263	88923263	-
NM_000512.5(GALNS):c.13G>A (p.Val5Ile)	2588	GALNS	Uncertain significance	1415400985	RCV001952884;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923273	88923273	88923273	-
NM_000512.5(GALNS):c.-1_6delinsT (p.Met1_Ala2del)	2588	GALNS	Uncertain significance	2143013673	RCV001578279;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923280	88923286	88923280	-
NM_000512.5(GALNS):c.3G>A (p.Met1Ile)	2588	GALNS	Uncertain significance	2143013681	RCV001578348;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923283	88923283	88923283	-
NM_000512.5(GALNS):c.-10C>G	2588	GALNS	Uncertain significance	781533703	RCV000359804;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923295	88923295	NC_000016.9:g.88923295G>C	ClinGen:CA8235421	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.-32C>T	2588	GALNS	Likely benign	556283159	RCV001117700\|RCV001544788;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88923317	88923317	16:g.88923317G>A	-
NM_000512.5(GALNS):c.-42G>T	2588	GALNS	Uncertain significance	1433642862	RCV001578278;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923327	88923327	88923327	-
NM_000512.5(GALNS):c.-54G>A	2588	GALNS	Uncertain significance	369448232	RCV000399724;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923339	88923339	NC_000016.9:g.88923339C>T	ClinGen:CA10649291	C0026707 Morquio syndrome;
NM_000512.5(GALNS):c.-58C>G	2588	GALNS	Uncertain significance	1244075467	RCV001117701;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923343	88923343	16:g.88923343G>C	-
NM_000512.5(GALNS):c.-58C>A	2588	GALNS	Uncertain significance	1244075467	RCV001117702;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582	16	88923343	88923343	16:g.88923343G>T	-
NM_000512.5(GALNS):c.-68C>T	2588	GALNS	Benign/Likely benign	144789309	RCV000306137\|RCV001590954;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88923353	88923353	NC_000016.9:g.88923353G>A	ClinGen:CA10648361	C0026707 Morquio syndrome;
NM_001323543.1(GALNS):c.-523T>C	2588	GALNS	Benign/Likely benign	116702472	RCV000391688\|RCV001597131;	N	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MedGen:C3661900	16	88923377	88923377	16:g.88923377A>G	ClinGen:CA10654547	C0026707 Morquio syndrome;
NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro)	3425	IDUA	Pathogenic/Likely pathogenic	200448421	RCV001374701\|RCV001780270\|RCV003229620\|RCV001865868;	N	Human Phenotype Ontology:HP:0000943,MONDO:MONDO:0011758,MedGen:C0086795,OMIM:607014, Orphanet:93473\|MedGen:C3661900\|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000, Orphanet:309297, Orphanet:582\|MONDO:MONDO:0001586,MedGen:C0023786, Orphanet:579	4	998102	998102	998102	-

MSeqDR Portal

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