ITSN2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 1242525	NM_006277.3(ITSN2):c.*57G>C	ITSN2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
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 3036926	NM_006277.3(ITSN2):c.5034C>T (p.Pro1678=)	ITSN2	Single nucleotide variant (synonymous variant)	ITSN2-related disorder	GLikely benign
Select item 3039372	NM_006277.3(ITSN2):c.5001T>C (p.Pro1667=)	ITSN2	Single nucleotide variant (synonymous variant)	ITSN2-related disorder	GBenign
Select item 2620710	NM_006277.3(ITSN2):c.4990A>C (p.Ser1664Arg)	ITSN2 (S1664R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2634853	NM_006277.3(ITSN2):c.4937-1G>C	ITSN2	Single nucleotide variant (splice acceptor variant)	ITSN2-related disorder	GUncertain significance
Select item 3030319	NM_006277.3(ITSN2):c.4936+10G>A	ITSN2	Single nucleotide variant (intron variant)	ITSN2-related disorder	GLikely benign
Select item 2214059	NM_006277.3(ITSN2):c.4883A>G (p.Tyr1628Cys)	ITSN2 (Y1588C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347077	NM_006277.3(ITSN2):c.4855A>G (p.Asn1619Asp)	ITSN2 (N1579D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375385	NM_006277.3(ITSN2):c.4847G>C (p.Trp1616Ser)	ITSN2 (W1602S +3 more)	Single nucleotide variant (missense variant)	not specified	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 3034736	NM_006277.3(ITSN2):c.4800C>T (p.Ser1600=)	ITSN2	Single nucleotide variant (synonymous variant)	ITSN2-related disorder	GLikely benign
Select item 2480870	NM_006277.3(ITSN2):c.4745A>C (p.Lys1582Thr)	ITSN2 (K1568T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 100854	NM_006277.3(ITSN2):c.4732G>T (p.Ala1578Ser)	ITSN2 (A1578S +3 more)	Single nucleotide variant (missense variant)	not provided	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 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 3039224	NM_006277.3(ITSN2):c.4686C>T (p.Ser1562=)	ITSN2	Single nucleotide variant (synonymous variant)	ITSN2-related disorder	GLikely benign
Select item 2353959	NM_006277.3(ITSN2):c.4673A>G (p.Tyr1558Cys)	ITSN2 (Y1531C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1176087	NM_006277.3(ITSN2):c.4661G>A (p.Arg1554His)	ITSN2 (R1514H +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 2284668	NM_006277.3(ITSN2):c.4625C>T (p.Ala1542Val)	ITSN2 (A1502V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1240643	NM_006277.3(ITSN2):c.4600G>A (p.Ala1534Thr)	ITSN2 (A1494T +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2346369	NM_006277.3(ITSN2):c.4558C>T (p.Arg1520Trp)	ITSN2 (R1506W +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1276591	NM_006277.3(ITSN2):c.4474-48G>A	ITSN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264044	NM_006277.3(ITSN2):c.4474-121G>A	ITSN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269903	NM_006277.3(ITSN2):c.4473+67T>C	ITSN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245049	NM_006277.3(ITSN2):c.4473+20G>C	ITSN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2636208	NM_006277.3(ITSN2):c.4473G>A (p.Thr1491=)	ITSN2	Single nucleotide variant (synonymous variant)	ITSN2-related disorder	GUncertain significance
Select item 2352952	NM_006277.3(ITSN2):c.4472C>T (p.Thr1491Met)	ITSN2 (T1477M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357990	NM_006277.3(ITSN2):c.4448A>G (p.Asn1483Ser)	ITSN2 (N1443S +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 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 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 1251753	NM_006277.3(ITSN2):c.4321T>C (p.Leu1441=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2390110	NM_006277.3(ITSN2):c.4298G>A (p.Arg1433Gln)	ITSN2 (R1393Q +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 1282774	NM_006277.3(ITSN2):c.4258-35G>A	ITSN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223051	NM_006277.3(ITSN2):c.4257+146dup	ITSN2	Duplication (intron variant)	not provided	GBenign
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 2296872	NM_006277.3(ITSN2):c.4211G>A (p.Arg1404Gln)	ITSN2 (R1364Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 522700	NM_006277.3(ITSN2):c.4208A>G (p.Asp1403Gly)	ITSN2 (D1376G +3 more)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 2205589	NM_006277.3(ITSN2):c.4205C>G (p.Ser1402Trp)	ITSN2 (S1402W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468014	NM_006277.3(ITSN2):c.4190G>A (p.Arg1397Gln)	ITSN2 (R1357Q +3 more)	Single nucleotide variant (missense variant)	not specified	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 2376607	NM_006277.3(ITSN2):c.4100A>G (p.Asn1367Ser)	ITSN2 (N1327S +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 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 2602283	NM_006277.3(ITSN2):c.3941T>G (p.Leu1314Arg)	ITSN2 (L1300R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2629584	NM_006277.3(ITSN2):c.3925C>T (p.Leu1309Phe)	ITSN2 (L1269F +3 more)	Single nucleotide variant (missense variant)	ITSN2-related disorder	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 3036290	NM_006277.3(ITSN2):c.3888C>G (p.Ser1296=)	ITSN2	Single nucleotide variant (synonymous variant)	ITSN2-related disorder	GLikely benign
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 1242826	NM_006277.3(ITSN2):c.3860T>C (p.Ile1287Thr)	ITSN2 (I1247T +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2215002	NM_006277.3(ITSN2):c.3848C>T (p.Pro1283Leu)	ITSN2 (P1256L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2520377	NM_006277.3(ITSN2):c.3821G>A (p.Arg1274Gln)	ITSN2 (R1247Q +3 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 2550850	NM_006277.3(ITSN2):c.3814C>T (p.Arg1272Trp)	ITSN2 (R1245W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1268176	NM_006277.3(ITSN2):c.3807-175C>G	ITSN2	Single nucleotide variant (intron variant)	not provided	GBenign
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 1283439	NM_006277.3(ITSN2):c.3700-115T>A	ITSN2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 2721055	NM_006277.3(ITSN2):c.3696C>T (p.Val1232=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2650714	NM_006277.3(ITSN2):c.3690C>T (p.Leu1230=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179170	NM_006277.3(ITSN2):c.3673A>G (p.Met1225Val)	ITSN2 (M1185V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067829	NM_006277.3(ITSN2):c.3672C>T (p.Tyr1224=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2200842	NM_006277.3(ITSN2):c.3668G>A (p.Arg1223Gln)	ITSN2 (R1183Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2296088	NM_006277.3(ITSN2):c.3641T>G (p.Ile1214Ser)	ITSN2 (I1187S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2040708	NM_006277.3(ITSN2):c.3616A>G (p.Ile1206Val)	ITSN2 (I1192V +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 2253408	NM_006277.3(ITSN2):c.3541G>A (p.Val1181Ile)	ITSN2 (V1140I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2183465	NM_006277.3(ITSN2):c.3514G>C (p.Val1172Leu)	ITSN2 (V1159L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420675	NM_006277.3(ITSN2):c.3511G>A (p.Gly1171Arg)	ITSN2 (G1130R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712617	NM_006277.3(ITSN2):c.3510C>T (p.Asn1170=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722436	NM_006277.3(ITSN2):c.3505A>G (p.Ile1169Val)	ITSN2 (I1128V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2538047	NM_006277.3(ITSN2):c.3476A>T (p.Lys1159Ile)	ITSN2 (K1119I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2631420	NM_006277.3(ITSN2):c.3455A>G (p.Gln1152Arg)	ITSN2 (Q1111R +5 more)	Single nucleotide variant (missense variant)	ITSN2-related disorder	GUncertain significance
Select item 2719141	NM_006277.3(ITSN2):c.3440G>C (p.Ser1147Thr)	ITSN2 (S1133T +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 1980452	NM_006277.3(ITSN2):c.3305G>A (p.Arg1102Gln)	ITSN2 (R1075Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1249084	NM_006277.3(ITSN2):c.3288+24A>G	ITSN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2545043	NM_006277.3(ITSN2):c.3251A>C (p.Lys1084Thr)	ITSN2 (K1070T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467271	NM_006277.3(ITSN2):c.3223G>A (p.Ala1075Thr)	ITSN2 (A1034T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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