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

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Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3365943	NM_003024.3(ITSN1):c.4739A>G (p.Lys1580Arg)	ITSN1, LOC126653350 (K1575R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362138	NM_003024.3(ITSN1):c.4094G>C (p.Arg1365Pro)	ITSN1 (R1360P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361863	NM_003024.3(ITSN1):c.5024T>C (p.Leu1675Ser)	ITSN1 (L1670S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360837	NM_003024.3(ITSN1):c.5120del (p.Gly1707fs)	ITSN1 (G1702fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3360458	NM_003024.3(ITSN1):c.1007A>G (p.Glu336Gly)	ITSN1 (E299G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360141	NM_003024.3(ITSN1):c.1151_1168del (p.Ala384_Ala389del)	ITSN1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3360025	NM_003024.3(ITSN1):c.1333C>T (p.Arg445Ter)	ITSN1 (R408* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3359957	NM_003024.3(ITSN1):c.923T>C (p.Phe308Ser)	ITSN1 (F271S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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