"FTSJ1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 726960	NM_012280.4(FTSJ1):c.304A>T (p.Ile102Phe)	FTSJ1 (I102F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 3033008	NM_012280.4(FTSJ1):c.571+10del	FTSJ1	Deletion (intron variant)	FTSJ1-related disorder	GLikely benign
Select item 2632429	NM_012280.4(FTSJ1):c.609G>C (p.Glu203Asp)	FTSJ1 (E203D +1 more)	Single nucleotide variant (missense variant)	FTSJ1-related disorder	GUncertain significance
Select item 723718	NM_012280.4(FTSJ1):c.654C>T (p.Tyr218=)	FTSJ1	Single nucleotide variant (synonymous variant)	FTSJ1-related disorder +2 more	GBenign
Select item 2635644	NM_012280.4(FTSJ1):c.695T>C (p.Ile232Thr)	FTSJ1 (I230T +2 more)	Single nucleotide variant (missense variant)	FTSJ1-related disorder	GUncertain significance
Select item 588358	NM_012280.4(FTSJ1):c.738G>A (p.Ser246=)	FTSJ1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 590221	NM_012280.4(FTSJ1):c.893G>A (p.Ser298Asn)	FTSJ1 (S296N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign

ClinVar