"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1285099	NM_017864.4(INTS8):c.873A>G (p.Leu291=)	INTS8	Single nucleotide variant (synonymous variant +1 more)	INTS8-related condition	GLikely benign
Select item 789298	NM_017864.4(INTS8):c.1310G>A (p.Gly437Glu)	INTS8 (G437E)	Single nucleotide variant (missense variant +1 more)	INTS8-related condition +1 more	GLikely benign
Select item 1285137	NM_017864.4(INTS8):c.1665T>C (p.Ser555=)	INTS8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1285220	NM_017864.4(INTS8):c.2031A>G (p.Thr677=)	INTS8	Single nucleotide variant (synonymous variant +1 more)	INTS8-related condition	GLikely benign
Select item 720658	NM_017864.4(INTS8):c.2766T>C (p.His922=)	INTS8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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