ClinVar for Gene (Select 50618) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3356948	NM_006277.3(ITSN2):c.3952A>C (p.Lys1318Gln)	ITSN2 (K1278Q +3 more)	Single nucleotide variant (missense variant)	ITSN2-related disorder	GUncertain significance
Select item 3356870	NM_006277.3(ITSN2):c.4811C>T (p.Thr1604Ile)	ITSN2 (T1564I +3 more)	Single nucleotide variant (missense variant)	ITSN2-related disorder	GUncertain significance
Select item 3356424	NM_006277.3(ITSN2):c.3699+2T>A	ITSN2 (V1234E)	Single nucleotide variant (missense variant +1 more)	ITSN2-related disorder	GUncertain significance
Select item 3355893	NM_006277.3(ITSN2):c.1893G>T (p.Gln631His)	ITSN2 (Q617H +1 more)	Single nucleotide variant (missense variant +1 more)	ITSN2-related disorder	GUncertain significance
Select item 3350968	NM_006277.3(ITSN2):c.4651AAG[2] (p.Lys1553del)	ITSN2 (K1513del +3 more)	Microsatellite (inframe_deletion)	ITSN2-related disorder	GLikely benign
Select item 3350500	NM_006277.3(ITSN2):c.2124T>G (p.Leu708=)	ITSN2	Single nucleotide variant (synonymous variant)	ITSN2-related disorder	GLikely benign
Select item 3350410	NM_006277.3(ITSN2):c.1311G>T (p.Glu437Asp)	ITSN2 (E423D +1 more)	Single nucleotide variant (missense variant)	ITSN2-related disorder	GLikely benign
Select item 3346651	NM_006277.3(ITSN2):c.851C>T (p.Thr284Ile)	ITSN2 (T270I +1 more)	Single nucleotide variant (missense variant)	ITSN2-related disorder	GUncertain significance
Select item 3287072	NM_006277.3(ITSN2):c.1320G>T (p.Arg440Ser)	ITSN2 (R426S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287071	NM_006277.3(ITSN2):c.1300A>G (p.Arg434Gly)	ITSN2 (R420G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287070	NM_006277.3(ITSN2):c.25A>G (p.Met9Val)	ITSN2 (M9V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3287069	NM_006277.3(ITSN2):c.2378A>G (p.Glu793Gly)	ITSN2 (E752G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287068	NM_006277.3(ITSN2):c.3815G>A (p.Arg1272Gln)	ITSN2 (R1258Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287067	NM_006277.3(ITSN2):c.2962G>T (p.Ala988Ser)	ITSN2 (A947S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287066	NM_006277.3(ITSN2):c.37C>A (p.Pro13Thr)	ITSN2 (P13T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3287065	NM_006277.3(ITSN2):c.5053C>T (p.Arg1685Cys)	ITSN2 (R1645C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247408	NC_000002.11:g.(?_24443763)_(26068452_?)dup	NCOA1, POMC +9 more	Duplication	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 3247406	NC_000002.11:g.(?_24443763)_(25536853_?)del	ADCY3, CENPO +7 more	Deletion	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3112018	NM_006277.3(ITSN2):c.933G>C (p.Met311Ile)	ITSN2 (M311I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112017	NM_006277.3(ITSN2):c.83G>A (p.Arg28Lys)	ITSN2 (R14K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3112016	NM_006277.3(ITSN2):c.70A>G (p.Thr24Ala)	ITSN2 (T10A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112015	NM_006277.3(ITSN2):c.478C>T (p.Pro160Ser)	ITSN2 (P160S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112014	NM_006277.3(ITSN2):c.4714A>T (p.Met1572Leu)	ITSN2 (M1545L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112013	NM_006277.3(ITSN2):c.4708C>T (p.Arg1570Cys)	ITSN2 (R1530C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112011	NM_006277.3(ITSN2):c.4414T>C (p.Ser1472Pro)	ITSN2 (S1432P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112010	NM_006277.3(ITSN2):c.4297C>T (p.Arg1433Trp)	ITSN2 (R1406W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112009	NM_006277.3(ITSN2):c.4045A>G (p.Lys1349Glu)	ITSN2 (K1309E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112008	NM_006277.3(ITSN2):c.403G>A (p.Ala135Thr)	ITSN2 (A121T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112007	NM_006277.3(ITSN2):c.3917G>C (p.Ser1306Thr)	ITSN2 (S1279T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112006	NM_006277.3(ITSN2):c.3828G>C (p.Lys1276Asn)	ITSN2 (K1249N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112005	NM_006277.3(ITSN2):c.3713G>A (p.Arg1238His)	ITSN2 (R1198H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112004	NM_006277.3(ITSN2):c.3694G>A (p.Val1232Ile)	ITSN2 (V1192I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3112002	NM_006277.3(ITSN2):c.2918A>C (p.Lys973Thr)	ITSN2 (K973T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112001	NM_006277.3(ITSN2):c.2602A>C (p.Thr868Pro)	ITSN2 (T841P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112000	NM_006277.3(ITSN2):c.2441A>G (p.Glu814Gly)	ITSN2 (E773G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111999	NM_006277.3(ITSN2):c.2347A>G (p.Ile783Val)	ITSN2 (I783V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111998	NM_006277.3(ITSN2):c.2044C>A (p.Leu682Ile)	ITSN2 (L668I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111997	NM_006277.3(ITSN2):c.1874T>C (p.Met625Thr)	ITSN2 (M611T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111996	NM_006277.3(ITSN2):c.1432C>G (p.Gln478Glu)	ITSN2 (Q464E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111995	NM_006277.3(ITSN2):c.1397G>A (p.Arg466Gln)	ITSN2 (R452Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111993	NM_006277.3(ITSN2):c.1284G>T (p.Lys428Asn)	ITSN2 (K414N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061633	NM_006277.3(ITSN2):c.282G>A (p.Gln94=)	ITSN2	Single nucleotide variant (synonymous variant)	ITSN2-related disorder	GLikely benign
Select item 3061048	NM_006277.3(ITSN2):c.4254G>A (p.Ala1418=)	ITSN2	Single nucleotide variant (synonymous variant)	ITSN2-related disorder	GLikely benign
Select item 3060003	NM_006277.3(ITSN2):c.4233C>T (p.His1411=)	ITSN2	Single nucleotide variant (synonymous variant)	ITSN2-related disorder	GLikely benign
Select item 3058534	NM_006277.3(ITSN2):c.3201T>C (p.Ser1067=)	ITSN2	Single nucleotide variant (synonymous variant)	ITSN2-related disorder	GLikely benign
Select item 3057497	NM_006277.3(ITSN2):c.3831C>T (p.Thr1277=)	ITSN2	Single nucleotide variant (synonymous variant)	ITSN2-related disorder	GLikely benign
Select item 3055534	NM_006277.3(ITSN2):c.4657A>C (p.Lys1553Gln)	ITSN2 (K1513Q +3 more)	Single nucleotide variant (missense variant)	ITSN2-related disorder	GLikely benign
Select item 3055002	NM_006277.3(ITSN2):c.2166A>G (p.Glu722=)	ITSN2	Single nucleotide variant (synonymous variant)	ITSN2-related disorder	GLikely benign
Select item 3054173	NM_006277.3(ITSN2):c.4955A>C (p.Glu1652Ala)	ITSN2 (E1612A +3 more)	Single nucleotide variant (missense variant)	ITSN2-related disorder	GLikely benign
Select item 3051850	NM_006277.3(ITSN2):c.3699+56T>C	ITSN2	Single nucleotide variant (3 prime UTR variant +1 more)	ITSN2-related disorder	GLikely benign
Select item 3051647	NM_006277.3(ITSN2):c.2881C>T (p.Arg961Trp)	ITSN2 (R920W +5 more)	Single nucleotide variant (missense variant)	ITSN2-related disorder	GLikely benign
Select item 3051446	NM_006277.3(ITSN2):c.4705G>A (p.Gly1569Arg)	ITSN2 (G1529R +3 more)	Single nucleotide variant (missense variant)	ITSN2-related disorder	GLikely benign
Select item 3049644	NM_006277.3(ITSN2):c.1494+6G>A	ITSN2	Single nucleotide variant (intron variant)	ITSN2-related disorder	GLikely benign
Select item 3048963	NM_006277.3(ITSN2):c.857+3A>G	ITSN2	Single nucleotide variant (intron variant)	ITSN2-related disorder	GLikely benign
Select item 3047161	NM_006277.3(ITSN2):c.2065G>A (p.Glu689Lys)	ITSN2 (E648K +3 more)	Single nucleotide variant (missense variant)	ITSN2-related disorder	GUncertain significance
Select item 3046107	NM_006277.3(ITSN2):c.3877G>A (p.Ala1293Thr)	ITSN2 (A1253T +3 more)	Single nucleotide variant (missense variant)	ITSN2-related disorder	GUncertain significance
Select item 3041151	NM_006277.3(ITSN2):c.4107G>A (p.Pro1369=)	ITSN2	Single nucleotide variant (synonymous variant)	ITSN2-related disorder	GBenign
Select item 3039372	NM_006277.3(ITSN2):c.5001T>C (p.Pro1667=)	ITSN2	Single nucleotide variant (synonymous variant)	ITSN2-related disorder	GBenign
Select item 3039224	NM_006277.3(ITSN2):c.4686C>T (p.Ser1562=)	ITSN2	Single nucleotide variant (synonymous variant)	ITSN2-related disorder	GLikely benign
Select item 3038011	NM_006277.3(ITSN2):c.2280G>A (p.Val760=)	ITSN2	Single nucleotide variant (synonymous variant)	ITSN2-related disorder	GLikely benign
Select item 3036926	NM_006277.3(ITSN2):c.5034C>T (p.Pro1678=)	ITSN2	Single nucleotide variant (synonymous variant)	ITSN2-related disorder	GLikely benign
Select item 3036672	NM_006277.3(ITSN2):c.528G>A (p.Gln176=)	ITSN2	Single nucleotide variant (synonymous variant)	ITSN2-related disorder	GLikely benign
Select item 3036324	NM_006277.3(ITSN2):c.2257+6G>A	ITSN2	Single nucleotide variant (intron variant)	ITSN2-related disorder	GLikely benign
Select item 3036290	NM_006277.3(ITSN2):c.3888C>G (p.Ser1296=)	ITSN2	Single nucleotide variant (synonymous variant)	ITSN2-related disorder	GLikely benign
Select item 3036180	NM_006277.3(ITSN2):c.2091G>A (p.Lys697=)	ITSN2	Single nucleotide variant (synonymous variant)	ITSN2-related disorder	GLikely benign
Select item 3035508	NM_006277.3(ITSN2):c.4325A>C (p.Tyr1442Ser)	ITSN2 (Y1402S +3 more)	Single nucleotide variant (missense variant)	ITSN2-related disorder	GBenign
Select item 3034736	NM_006277.3(ITSN2):c.4800C>T (p.Ser1600=)	ITSN2	Single nucleotide variant (synonymous variant)	ITSN2-related disorder	GLikely benign
Select item 3032709	NM_006277.3(ITSN2):c.3551C>T (p.Thr1184Met)	ITSN2 (T1143M +5 more)	Single nucleotide variant (missense variant)	ITSN2-related disorder	GUncertain significance
Select item 3032308	NM_006277.3(ITSN2):c.150A>G (p.Leu50=)	ITSN2	Single nucleotide variant (synonymous variant)	ITSN2-related disorder	GLikely benign
Select item 3032128	NM_006277.3(ITSN2):c.2115A>G (p.Lys705=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3031265	NM_006277.3(ITSN2):c.2286T>C (p.Tyr762=)	ITSN2	Single nucleotide variant (synonymous variant)	ITSN2-related disorder	GLikely benign
Select item 3030319	NM_006277.3(ITSN2):c.4936+10G>A	ITSN2	Single nucleotide variant (intron variant)	ITSN2-related disorder	GLikely benign
Select item 3030166	NM_006277.3(ITSN2):c.195A>G (p.Leu65=)	ITSN2	Single nucleotide variant (synonymous variant)	ITSN2-related disorder	GLikely benign
Select item 3018713	NM_006277.3(ITSN2):c.2139A>G (p.Glu713=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016589	NM_006277.3(ITSN2):c.1183C>T (p.Arg395Cys)	ITSN2 (R381C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013918	NM_006277.3(ITSN2):c.3615A>T (p.Pro1205=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958790	NM_006277.3(ITSN2):c.3603C>T (p.Asp1201=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911157	NM_006277.3(ITSN2):c.513C>T (p.Thr171=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907698	NM_006277.3(ITSN2):c.2T>C (p.Met1Thr)	ITSN2 (M1T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2897579	NM_006277.3(ITSN2):c.2651C>T (p.Ser884Phe)	ITSN2 (S871F +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895929	NM_006277.3(ITSN2):c.2049G>A (p.Met683Ile)	ITSN2 (M642I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892400	NM_006277.3(ITSN2):c.3189A>G (p.Ala1063=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883630	NM_006277.3(ITSN2):c.2930C>T (p.Ser977Leu)	ITSN2 (S950L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875201	NM_006277.3(ITSN2):c.1578G>A (p.Leu526=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873634	NM_006277.3(ITSN2):c.1636-18A>G	ITSN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872945	NM_006277.3(ITSN2):c.1978G>A (p.Ala660Thr)	ITSN2 (A633T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868770	NM_006277.3(ITSN2):c.52A>G (p.Ile18Val)	ITSN2 (I4V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857972	NM_006277.3(ITSN2):c.3121-18G>A	ITSN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855201	NM_006277.3(ITSN2):c.2889-37GTTT[7]	ITSN2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2849064	NM_006277.3(ITSN2):c.1718C>A (p.Thr573Lys)	ITSN2 (T559K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819053	NM_006277.3(ITSN2):c.2298C>A (p.Tyr766Ter)	ITSN2 (Y725* +5 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2814487	NM_006277.3(ITSN2):c.2536_2537+2del	ITSN2	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2811509	NM_006277.3(ITSN2):c.2071G>A (p.Glu691Lys)	ITSN2 (E664K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792889	NM_006277.3(ITSN2):c.1327G>A (p.Asp443Asn)	ITSN2 (D429N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785956	NM_006277.3(ITSN2):c.2889-13AT[5]	ITSN2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2780583	NM_006277.3(ITSN2):c.2326A>G (p.Met776Val)	ITSN2 (M776V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780507	NM_006277.3(ITSN2):c.3332A>G (p.His1111Arg)	ITSN2 (H1070R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776955	NM_006277.3(ITSN2):c.3121-17G>A	ITSN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769551	NM_006277.3(ITSN2):c.992T>A (p.Phe331Tyr)	ITSN2 (F331Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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