"Eurofins Ntd Llc (ga)"[submitter] AND "SULF1"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 502496	NM_001128205.2(SULF1):c.68C>T (p.Ser23Leu)	SULF1 (S23L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 499133	NM_001128205.2(SULF1):c.364G>T (p.Glu122Ter)	SULF1 (E122*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 283835	NM_001128205.2(SULF1):c.370C>T (p.Arg124Trp)	SULF1 (R124W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 498523	NM_001128205.2(SULF1):c.669G>T (p.Ala223=)	SULF1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 281430	NM_001128205.2(SULF1):c.901G>A (p.Val301Met)	SULF1 (V301M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 500286	NM_001128205.2(SULF1):c.1111A>G (p.Ile371Val)	SULF1 (I371V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 497794	NM_001128205.2(SULF1):c.1123G>A (p.Asp375Asn)	SULF1 (D375N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 194353	NM_001128205.2(SULF1):c.1483C>G (p.Arg495Gly)	SULF1 (R495G)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 283084	NM_001128205.2(SULF1):c.1645G>A (p.Glu549Lys)	SULF1 (E549K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 282083	NM_001128205.2(SULF1):c.2194C>T (p.Arg732Trp)	SULF1 (R732W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 195575	NM_001128205.2(SULF1):c.2440G>A (p.Val814Met)	SULF1 (V814M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 287529	NM_001128205.2(SULF1):c.2531G>A (p.Arg844Lys)	SULF1 (R844K)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance