Related gene-specific medical variations for Gene (Select 6453) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3111989	NM_003024.3(ITSN1):c.4763G>A (p.Arg1588His)	ITSN1, LOC126653350 (R1583H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2689268	NM_003024.3(ITSN1):c.908A>G (p.Tyr303Cys)	ITSN1 (Y266C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689267	NM_003024.3(ITSN1):c.25G>A (p.Gly9Ser)	ITSN1 (G9S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672130	NM_003024.3(ITSN1):c.2644C>A (p.Pro882Thr)	ITSN1 (P840T +2 more)	Single nucleotide variant (missense variant)	ITSN1-related neurodevelopmental disorders	GUncertain significance
Select item 2576126	NM_003024.3(ITSN1):c.3937_3941dup (p.Met1314fs)	ITSN1 (M1309fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2575980	NM_003024.3(ITSN1):c.4044T>G (p.Asp1348Glu)	ITSN1 (D1343E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 157470	NC_000021.8:g.35027142_35056247del	ITSN1	Deletion	Preeclampsia	Gnot provided

ClinVar