"Baylor Genetics"[submitter] AND "SUMF1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2669	NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)	SUMF1 (A279V +1 more)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1029322	NM_182760.4(SUMF1):c.818A>G (p.Asp273Gly)	SUMF1 (D273G +1 more)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GLikely pathogenic
Select item 418724	NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg)	SUMF1 (Q262R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1029321	NM_182760.4(SUMF1):c.571C>A (p.Pro191Thr)	SUMF1 (P191T +1 more)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 1034414	NM_182760.4(SUMF1):c.13G>A (p.Ala5Thr)	SUMF1 (A5T)	Single nucleotide variant (missense variant)	Multiple sulfatase deficiency	GUncertain significance
Select item 625697	GRCh37/hg19 3p26.3-26.1(chr3:107776-5257572)	ARL8B, BHLHE40 +12 more	Copy number loss	not provided	GPathogenic

ClinVar