"Reproductive Development, Murdoch Childrens Research Institute"[submi - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444505	NM_014706.4(SART3):c.2507G>A (p.Arg836Gln)	LOC126861630, SART3 (R836Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis	GLikely pathogenic
Select item 2444507	NM_014706.4(SART3):c.2299C>T (p.Arg767Trp)	SART3 (R767W +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis	GLikely pathogenic
Select item 2444511	NM_014706.4(SART3):c.2153C>T (p.Pro718Leu)	SART3 (P718L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis	GLikely pathogenic
Select item 2444512	NM_014706.4(SART3):c.1555A>G (p.Arg519Gly)	SART3 (R519G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis	GLikely pathogenic
Select item 2444509	NM_014706.4(SART3):c.1477C>T (p.Arg493Trp)	SART3 (R493W +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis	GLikely pathogenic
Select item 2444508	NM_014706.4(SART3):c.757C>T (p.Arg253Ter)	SART3 (R253* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis	GLikely pathogenic
Select item 2444510	NM_014706.4(SART3):c.646T>C (p.Ser216Pro)	SART3 (S216P)	Single nucleotide variant (missense variant)	Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis	GLikely pathogenic
Select item 2444506	NM_014706.4(SART3):c.631G>A (p.Glu211Lys)	SART3 (E211K)	Single nucleotide variant (missense variant)	Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis	GLikely pathogenic