"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ITSN2"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1176087	NM_006277.3(ITSN2):c.4661G>A (p.Arg1554His)	ITSN2 (R1514H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2650713	NM_006277.3(ITSN2):c.4388A>G (p.Tyr1463Cys)	ITSN2 (Y1423C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650714	NM_006277.3(ITSN2):c.3690C>T (p.Leu1230=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650715	NM_006277.3(ITSN2):c.2845T>C (p.Ser949Pro)	ITSN2 (S908P +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2039704	NM_006277.3(ITSN2):c.2678G>C (p.Gly893Ala)	ITSN2 (G853A +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2650716	NM_006277.3(ITSN2):c.1473T>G (p.Leu491=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2039091	NM_006277.3(ITSN2):c.681A>G (p.Ser227=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2055499	NM_006277.3(ITSN2):c.402T>C (p.Ala134=)	ITSN2	Single nucleotide variant (synonymous variant)	ITSN2-related condition +1 more	GLikely benign

ClinVar