ClinVar for MedGen (Select 75664) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366587	NM_182760.4(SUMF1):c.266C>A (p.Ser89Ter)	LOC129936056, SUMF1 (S89*)	Single nucleotide variant (nonsense)	Multiple sulfatase deficiency	GPathogenic
Select item 3362858	NM_182760.4(SUMF1):c.890A>G (p.Asn297Ser)	SUMF1 (N272S +1 more)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GPathogenic
Select item 3335973	NM_182760.4(SUMF1):c.1042G>T (p.Ala348Ser)	SUMF1 (A323S +2 more)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GLikely pathogenic
Select item 3246854	NC_000003.11:g.(?_4508657)_(4508905_?)del	SUMF1	Deletion	Multiple sulfatase deficiency	GLikely pathogenic
Select item 3246853	NC_000003.11:g.(?_4452529)_(4461850_?)dup	SUMF1	Duplication	Multiple sulfatase deficiency	GLikely pathogenic
Select item 3246852	NC_000003.11:g.(?_4403828)_(4562798_?)dup	ITPR1, SUMF1	Duplication	Multiple sulfatase deficiency	GUncertain significance
Select item 3246850	NC_000003.11:g.(?_4458792)_(4491044_?)del	SUMF1	Deletion	Multiple sulfatase deficiency	GPathogenic
Select item 3246849	NC_000003.11:g.(?_4403828)_(4403958_?)del	SUMF1	Deletion	Multiple sulfatase deficiency	GPathogenic
Select item 3246848	NC_000003.11:g.(?_4508640)_(4508929_?)del	SUMF1	Deletion	Multiple sulfatase deficiency	GPathogenic
Select item 3246847	NC_000003.11:g.(?_4403828)_(4508929_?)del	SUMF1	Deletion	Multiple sulfatase deficiency	GPathogenic
Select item 3233544	NM_182760.4(SUMF1):c.817G>A (p.Asp273Asn)	SUMF1 (D248N +1 more)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GLikely pathogenic
Select item 3065443	NM_182760.4(SUMF1):c.699C>G (p.Tyr233Ter)	SUMF1 (Y208* +1 more)	Single nucleotide variant (nonsense)	Multiple sulfatase deficiency	GUncertain significance
Select item 3065300	NM_182760.4(SUMF1):c.868G>C (p.Gly290Arg)	SUMF1 (G265R +1 more)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GLikely pathogenic
Select item 3020006	NM_182760.4(SUMF1):c.271-14A>C	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 3018302	NM_182760.4(SUMF1):c.234C>T (p.Gly78=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 3016364	NM_182760.4(SUMF1):c.519+19G>A	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 3015250	NM_182760.4(SUMF1):c.955-7T>C	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 3014044	NM_182760.4(SUMF1):c.520-19T>C	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 3013987	NM_182760.4(SUMF1):c.1110G>T (p.Leu370=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 3011132	NM_182760.4(SUMF1):c.954+18A>G	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 3008133	NM_182760.4(SUMF1):c.603-18A>G	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 3001362	NM_182760.4(SUMF1):c.692G>A (p.Trp231Ter)	SUMF1 (W206* +1 more)	Single nucleotide variant (nonsense)	Multiple sulfatase deficiency	GPathogenic
Select item 3000950	NM_182760.4(SUMF1):c.840+11A>G	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2998535	NM_182760.4(SUMF1):c.445-18T>A	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2987948	NM_182760.4(SUMF1):c.696A>G (p.Glu232=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2986107	NM_182760.4(SUMF1):c.603-20C>T	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2984185	NM_182760.4(SUMF1):c.520-15C>G	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2978287	NM_182760.4(SUMF1):c.954+19G>A	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2976090	NM_182760.4(SUMF1):c.603-20C>A	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2974755	NM_182760.4(SUMF1):c.955-13T>C	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2973324	NM_182760.4(SUMF1):c.784C>T (p.Gln262Ter)	SUMF1 (Q237* +1 more)	Single nucleotide variant (nonsense)	Multiple sulfatase deficiency	GPathogenic
Select item 2971264	NM_182760.4(SUMF1):c.1014+19C>A	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2968485	NM_182760.4(SUMF1):c.1015-12C>T	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2968002	NM_182760.4(SUMF1):c.150C>T (p.Cys50=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2966191	NM_182760.4(SUMF1):c.1014+15T>C	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2957182	NM_182760.4(SUMF1):c.840+1G>A	SUMF1	Single nucleotide variant (splice donor variant)	Multiple sulfatase deficiency	GLikely pathogenic
Select item 2954840	NM_182760.4(SUMF1):c.954+18A>T	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2919961	NM_182760.4(SUMF1):c.24G>T (p.Leu8=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2919112	NM_182760.4(SUMF1):c.519+16A>G	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2916573	NM_182760.4(SUMF1):c.725+15T>C	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2914990	NM_182760.4(SUMF1):c.1017T>G (p.Ser339=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2913384	NM_182760.4(SUMF1):c.445-12C>T	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2895672	NM_182760.4(SUMF1):c.444+13G>A	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2893418	NM_182760.4(SUMF1):c.103C>T (p.Gln35Ter)	LOC129936056, SUMF1 (Q35*)	Single nucleotide variant (nonsense)	Multiple sulfatase deficiency	GPathogenic
Select item 2888783	NM_182760.4(SUMF1):c.270+15C>T	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2887482	NM_182760.4(SUMF1):c.725+13T>C	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2885199	NM_182760.4(SUMF1):c.955-20C>A	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2880298	NM_182760.4(SUMF1):c.602+16C>T	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2876448	NM_182760.4(SUMF1):c.834T>C (p.Thr278=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2876405	NM_182760.4(SUMF1):c.270+5_270+6dup	LOC129936056, SUMF1	Duplication (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2875393	NM_182760.4(SUMF1):c.270+18C>G	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2875389	NM_182760.4(SUMF1):c.351G>A (p.Arg117=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2873064	NM_182760.4(SUMF1):c.816G>A (p.Glu272=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2872466	NM_182760.4(SUMF1):c.445-20A>G	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2867564	NM_182760.4(SUMF1):c.474T>C (p.Phe158=)	SUMF1	Single nucleotide variant (synonymous variant +1 more)	Multiple sulfatase deficiency	GLikely benign
Select item 2866607	NM_182760.4(SUMF1):c.725+8G>C	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2863164	NM_182760.4(SUMF1):c.46C>T (p.Leu16=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2862434	NM_182760.4(SUMF1):c.789C>A (p.Gly263=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2861946	NM_182760.4(SUMF1):c.519+20G>C	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2860714	NM_182760.4(SUMF1):c.725+17A>C	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2851664	NM_182760.4(SUMF1):c.72G>T (p.Leu24=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2849709	NM_182760.4(SUMF1):c.291A>T (p.Gly97=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2846025	NM_182760.4(SUMF1):c.582T>C (p.Pro194=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2844030	NM_182760.4(SUMF1):c.15A>G (p.Ala5=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2843707	NM_182760.4(SUMF1):c.444+20G>C	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2843420	NM_182760.4(SUMF1):c.959del (p.Gly320fs)	SUMF1 (G295fs +1 more)	Deletion (frameshift variant +1 more)	Multiple sulfatase deficiency	GPathogenic
Select item 2842283	NM_182760.4(SUMF1):c.955-17T>C	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2839516	NM_182760.4(SUMF1):c.429T>G (p.Thr143=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2838116	NM_182760.4(SUMF1):c.111C>G (p.Ala37=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2833552	NM_182760.4(SUMF1):c.51T>A (p.Gly17=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2829518	NM_182760.4(SUMF1):c.603-10T>C	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2827109	NM_182760.4(SUMF1):c.546T>C (p.Pro182=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2826736	NM_182760.4(SUMF1):c.603-12G>A	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2826658	NM_182760.4(SUMF1):c.1015-17T>C	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2823841	NM_182760.4(SUMF1):c.627_657del (p.Ser210fs)	SUMF1 (S185fs +1 more)	Deletion (frameshift variant)	Multiple sulfatase deficiency	GPathogenic
Select item 2823128	NM_182760.4(SUMF1):c.412_413del (p.Lys138fs)	SUMF1 (K138fs)	Deletion (frameshift variant)	Multiple sulfatase deficiency	GPathogenic
Select item 2822310	NM_182760.4(SUMF1):c.960T>C (p.Gly320=)	SUMF1	Single nucleotide variant (synonymous variant +1 more)	Multiple sulfatase deficiency	GLikely benign
Select item 2822029	NM_182760.4(SUMF1):c.79C>T (p.Leu27=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2821697	NM_182760.4(SUMF1):c.9G>T (p.Ala3=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2821154	NM_182760.4(SUMF1):c.1074T>C (p.Ala358=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2819198	NM_182760.4(SUMF1):c.271-4G>A	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2815895	NM_182760.4(SUMF1):c.342A>C (p.Ala114=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2815732	NM_182760.4(SUMF1):c.180C>A (p.Ala60=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2811623	NM_182760.4(SUMF1):c.955-19C>G	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2810018	NM_182760.4(SUMF1):c.834T>G (p.Thr278=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2809401	NM_182760.4(SUMF1):c.1015-20T>G	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2809288	NM_182760.4(SUMF1):c.402T>G (p.Thr134=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2808494	NM_182760.4(SUMF1):c.166del (p.Gln56fs)	LOC129936056, SUMF1 (Q56fs)	Deletion (frameshift variant)	Multiple sulfatase deficiency	GPathogenic
Select item 2803778	NM_182760.4(SUMF1):c.271-7A>C	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2798095	NM_182760.4(SUMF1):c.198C>T (p.Ala66=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GBenign
Select item 2794939	NM_182760.4(SUMF1):c.878A>G (p.Asn293Ser)	SUMF1 (N293S +1 more)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 2792522	NM_182760.4(SUMF1):c.1056C>T (p.Asn352=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2784597	NM_182760.4(SUMF1):c.498G>A (p.Val166=)	SUMF1	Single nucleotide variant (synonymous variant +1 more)	Multiple sulfatase deficiency	GLikely benign
Select item 2784191	NM_182760.4(SUMF1):c.852C>T (p.Phe284=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2783958	NM_182760.4(SUMF1):c.309A>G (p.Thr103=)	SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2781381	NM_182760.4(SUMF1):c.519+20G>T	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2780393	NM_182760.4(SUMF1):c.726-14G>A	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2778440	NM_182760.4(SUMF1):c.162G>T (p.Thr54=)	LOC129936056, SUMF1	Single nucleotide variant (synonymous variant)	Multiple sulfatase deficiency	GLikely benign
Select item 2771434	NM_182760.4(SUMF1):c.14dup (p.Leu6fs)	SUMF1 (L6fs)	Duplication (frameshift variant)	Multiple sulfatase deficiency	GPathogenic
Select item 2770534	NM_182760.4(SUMF1):c.270+20G>A	SUMF1	Single nucleotide variant (intron variant)	Multiple sulfatase deficiency	GLikely benign

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