"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "INTS8"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2658697	NC_000008.11:g.94822929A>G	INTS8	Single nucleotide variant	not provided	GBenign
Select item 932482	NM_017864.4(INTS8):c.333A>G (p.Leu111=)	INTS8	Single nucleotide variant (synonymous variant +1 more)	not provided	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 2658698	NM_017864.4(INTS8):c.1636A>T (p.Asn546Tyr)	INTS8 (N546Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely 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 782952	NM_017864.4(INTS8):c.2263A>C (p.Ser755Arg)	INTS8 (S755R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign

ClinVar