CN169374[trait identifier] AND "Medical Molecular Genetics Department, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1693008	NM_020919.4(ALS2):c.4206A>G (p.Gly1402=)	ALS2	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 1693007	NM_020919.4(ALS2):c.3958A>G (p.Asn1320Asp)	ALS2 (N1320D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 445293	NM_000046.5(ARSB):c.288C>G (p.Ser96Arg)	ARSB, LOC129994126 (S96R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis type 6 +1 more	GConflicting classifications of pathogenicity
Select item 322000	NM_002615.7(SERPINF1):c.215C>T (p.Thr72Met)	SERPINF1 (T72M)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 6 +3 more	GBenign
Select item 322003	NM_002615.7(SERPINF1):c.390T>C (p.Thr130=)	SERPINF1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 322007	NM_002615.7(SERPINF1):c.643+9G>A	SERPINF1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 322012	NM_002615.7(SERPINF1):c.963T>C (p.Tyr321=)	SERPINF1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 261438	NM_021939.4(FKBP10):c.590A>G (p.Lys197Arg)	FKBP10 (K197R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

ClinVar