Related gene-specific medical variations for Gene (Select 24140) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2430055	NM_012280.4(FTSJ1):c.367G>A (p.Gly123Ser)	FTSJ1 (G123S)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GUncertain significance
Select item 1809697	NM_012280.4(FTSJ1):c.*9G>A	FTSJ1	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 9	GUncertain significance
Select item 975240	NM_012280.4(FTSJ1):c.256del (p.Val86fs)	FTSJ1 (V86fs)	Deletion (frameshift variant +1 more)	Intellectual disability, X-linked 9	GPathogenic
Select item 445581	NM_012280.4(FTSJ1):c.656-6C>G	FTSJ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 431367	NM_012280.4(FTSJ1):c.742C>T (p.Arg248Cys)	FTSJ1 (R246C +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 9	GUncertain significance
Select item 151034	GRCh38/hg38 Xp11.23(chrX:48476762-48477781)x2	FTSJ1	Copy number gain	See cases	GLikely benign
Select item 150944	GRCh38/hg38 Xp11.23(chrX:48476537-48477781)x3	FTSJ1	Copy number gain	See cases	GLikely benign

ClinVar