11973[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 3041622	NM_001387777.1(TNS1):c.*9C>T	TNS1	Single nucleotide variant (3 prime UTR variant)	TNS1-related disorder	GLikely benign
Select item 3055025	NM_001387777.1(TNS1):c.5506G>A (p.Gly1836Ser)	TNS1 (G1711S +3 more)	Single nucleotide variant (missense variant)	TNS1-related disorder	GLikely benign
Select item 3327785	NM_001387777.1(TNS1):c.5486C>G (p.Ser1829Cys)	TNS1 (S1704C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040649	NM_001387777.1(TNS1):c.5484C>T (p.Val1828=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related disorder	GLikely benign
Select item 3060826	NM_001387777.1(TNS1):c.5477A>G (p.Asn1826Ser)	TNS1 (N1701S +3 more)	Single nucleotide variant (missense variant)	TNS1-related disorder	GBenign
Select item 2529616	NM_001387777.1(TNS1):c.5423C>A (p.Ala1808Asp)	TNS1 (A1704D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779082	NM_001387777.1(TNS1):c.5421C>T (p.Asn1807=)	TNS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3033607	NM_001387777.1(TNS1):c.5414C>T (p.Thr1805Met)	TNS1 (T1680M +3 more)	Single nucleotide variant (missense variant)	TNS1-related disorder	GLikely benign
Select item 731428	NM_001387777.1(TNS1):c.5388C>T (p.Phe1796=)	TNS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3327774	NM_001387777.1(TNS1):c.5376G>A (p.Lys1792=)	TNS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3050327	NM_001387777.1(TNS1):c.5376-8G>A	TNS1	Single nucleotide variant (intron variant)	TNS1-related disorder	GLikely benign
Select item 3034351	NM_001387777.1(TNS1):c.5376-8G>T	TNS1	Single nucleotide variant (intron variant)	TNS1-related disorder	GLikely benign
Select item 3038359	NM_001387777.1(TNS1):c.5376-9C>T	TNS1	Single nucleotide variant (intron variant)	TNS1-related disorder	GLikely benign
Select item 2350131	NM_001387777.1(TNS1):c.5288G>A (p.Arg1763His)	TNS1 (R1638H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035556	NM_001387777.1(TNS1):c.5274-4G>T	TNS1	Single nucleotide variant (intron variant)	TNS1-related disorder	GLikely benign
Select item 2371003	NM_001387777.1(TNS1):c.5221G>A (p.Val1741Ile)	TNS1 (V1616I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380484	NM_001387777.1(TNS1):c.5204C>T (p.Thr1735Met)	TNS1 (T1617M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060255	NM_001387777.1(TNS1):c.5122G>A (p.Val1708Ile)	TNS1 (V1583I +3 more)	Single nucleotide variant (missense variant)	TNS1-related disorder	GBenign
Select item 2327063	NM_001387777.1(TNS1):c.4985C>T (p.Ser1662Phe)	TNS1 (S1537F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180816	NM_001387777.1(TNS1):c.4940A>G (p.Asn1647Ser)	TNS1 (N1647S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480744	NM_001387777.1(TNS1):c.4903A>G (p.Thr1635Ala)	TNS1 (T1510A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259497	NM_001387777.1(TNS1):c.4902G>T (p.Glu1634Asp)	TNS1 (E1516D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180815	NM_001387777.1(TNS1):c.4847A>G (p.Gln1616Arg)	LOC126806511, TNS1 (Q1499R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491653	NM_001387777.1(TNS1):c.4847A>C (p.Gln1616Pro)	LOC126806511, TNS1 (Q1499P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180814	NM_001387777.1(TNS1):c.4844T>A (p.Met1615Lys)	LOC126806511, TNS1 (M1498K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568838	NM_001387777.1(TNS1):c.4783C>T (p.His1595Tyr)	LOC126806511, TNS1 (H1478Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180813	NM_001387777.1(TNS1):c.4732A>G (p.Ile1578Val)	LOC126806511, TNS1 (I1474V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371078	NM_001387777.1(TNS1):c.4652C>G (p.Pro1551Arg)	TNS1 (P1434R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252506	NM_001387777.1(TNS1):c.4646A>G (p.Asn1549Ser)	TNS1 (N1432S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466722	NM_001387777.1(TNS1):c.4618G>A (p.Asp1540Asn)	TNS1 (D1436N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048703	NM_001387777.1(TNS1):c.4617C>T (p.Pro1539=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related disorder	GLikely benign
Select item 2279088	NM_001387777.1(TNS1):c.4616C>A (p.Pro1539His)	TNS1 (P1414H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041980	NM_001387777.1(TNS1):c.4593C>T (p.Thr1531=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related disorder	GLikely benign
Select item 3060871	NM_001387777.1(TNS1):c.4581T>C (p.Ser1527=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related disorder	GBenign
Select item 3038319	NM_001387777.1(TNS1):c.4563C>T (p.Ser1521=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related disorder	GLikely benign
Select item 3057094	NM_001387777.1(TNS1):c.4558G>A (p.Ala1520Thr)	TNS1 (A1395T +3 more)	Single nucleotide variant (missense variant)	TNS1-related disorder	GBenign
Select item 3039794	NM_001387777.1(TNS1):c.4551G>A (p.Ser1517=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related disorder	GBenign
Select item 3180811	NM_001387777.1(TNS1):c.4546T>G (p.Ser1516Ala)	TNS1 (S1399A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180810	NM_001387777.1(TNS1):c.4520A>G (p.Asn1507Ser)	TNS1 (N1382S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327775	NM_001387777.1(TNS1):c.4516C>T (p.Pro1506Ser)	TNS1 (P1506S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327776	NM_001387777.1(TNS1):c.4444C>T (p.Arg1482Trp)	TNS1 (R1357W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251754	NM_001387777.1(TNS1):c.4436C>T (p.Ala1479Val)	TNS1 (A1479V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783125	NM_001387777.1(TNS1):c.4435G>A (p.Ala1479Thr)	TNS1 (A1375T +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2291359	NM_001387777.1(TNS1):c.4340C>T (p.Ser1447Phe)	TNS1 (S1447F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227450	NM_001387777.1(TNS1):c.4306C>T (p.Arg1436Trp)	TNS1 (R1436W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651872	NM_001387777.1(TNS1):c.4298C>T (p.Pro1433Leu)	TNS1 (P1308L +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3059250	NM_001387777.1(TNS1):c.4284T>C (p.Gly1428=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related disorder	GBenign
Select item 3327788	NM_001387777.1(TNS1):c.4256C>T (p.Pro1419Leu)	TNS1 (P1315L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327779	NM_001387777.1(TNS1):c.4228G>A (p.Gly1410Arg)	TNS1 (G1285R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180809	NM_001387777.1(TNS1):c.4217G>A (p.Arg1406His)	TNS1 (R1406H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180808	NM_001387777.1(TNS1):c.4216C>T (p.Arg1406Cys)	TNS1 (R1281C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048276	NM_001387777.1(TNS1):c.4167C>T (p.Ser1389=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related disorder	GLikely benign
Select item 719799	NM_001387777.1(TNS1):c.4132C>A (p.Arg1378=)	TNS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2343607	NM_001387777.1(TNS1):c.4102G>A (p.Ala1368Thr)	TNS1 (A1243T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770133	NM_001387777.1(TNS1):c.4029C>A (p.Thr1343=)	TNS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3180807	NM_001387777.1(TNS1):c.4009C>A (p.Pro1337Thr)	TNS1 (P1212T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461526	NM_001387777.1(TNS1):c.4000G>C (p.Val1334Leu)	TNS1 (V1217L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485969	NM_001387777.1(TNS1):c.3997A>G (p.Thr1333Ala)	TNS1 (T1208A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529464	NM_001387777.1(TNS1):c.3980C>T (p.Thr1327Ile)	TNS1 (T1210I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362908	NM_001387777.1(TNS1):c.3968G>C (p.Gly1323Ala)	TNS1 (G1198A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057079	NM_001387777.1(TNS1):c.3916C>T (p.Pro1306Ser)	TNS1 (P1181S +3 more)	Single nucleotide variant (missense variant)	TNS1-related disorder	GBenign
Select item 3038789	NM_001387777.1(TNS1):c.3905G>A (p.Arg1302Gln)	TNS1 (R1177Q +3 more)	Single nucleotide variant (missense variant)	TNS1-related disorder	GLikely benign
Select item 3060903	NM_001387777.1(TNS1):c.3901T>C (p.Trp1301Arg)	TNS1 (W1176R +3 more)	Single nucleotide variant (missense variant)	TNS1-related disorder	GBenign
Select item 2606385	NM_001387777.1(TNS1):c.3878C>A (p.Thr1293Asn)	TNS1 (T1168N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400642	NM_001387777.1(TNS1):c.3854G>A (p.Arg1285His)	TNS1 (R1160H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056638	NM_001387777.1(TNS1):c.3852G>A (p.Ala1284=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related disorder	GBenign
Select item 2346123	NM_001387777.1(TNS1):c.3851C>T (p.Ala1284Val)	TNS1 (A1159V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300311	NM_001387777.1(TNS1):c.3830C>T (p.Thr1277Met)	TNS1 (T1152M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712964	NM_001387777.1(TNS1):c.3822C>T (p.Gly1274=)	TNS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2534881	NM_001387777.1(TNS1):c.3821G>A (p.Gly1274Asp)	TNS1 (G1149D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254830	NM_001387777.1(TNS1):c.3800G>A (p.Arg1267Gln)	TNS1 (R1163Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059841	NM_001387777.1(TNS1):c.3798T>C (p.Ala1266=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related disorder	GBenign
Select item 2315350	NM_001387777.1(TNS1):c.3791G>A (p.Ser1264Asn)	TNS1 (S1139N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611790	NM_001387777.1(TNS1):c.3786G>A (p.Pro1262=)	TNS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3044740	NM_001387777.1(TNS1):c.3785C>T (p.Pro1262Leu)	TNS1 (P1137L +3 more)	Single nucleotide variant (missense variant)	TNS1-related disorder	GBenign
Select item 2509168	NM_001387777.1(TNS1):c.3784C>A (p.Pro1262Thr)	TNS1 (P1145T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053065	NM_001387777.1(TNS1):c.3754G>A (p.Asp1252Asn)	TNS1 (D1127N +3 more)	Single nucleotide variant (missense variant)	TNS1-related disorder	GLikely benign
Select item 3059973	NM_001387777.1(TNS1):c.3687G>A (p.Pro1229=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related disorder	GBenign
Select item 3040391	NM_001387777.1(TNS1):c.3659G>A (p.Arg1220His)	TNS1 (R1095H +3 more)	Single nucleotide variant (missense variant)	TNS1-related disorder	GBenign
Select item 2622893	NM_001387777.1(TNS1):c.3653G>T (p.Gly1218Val)	TNS1 (G1114V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536015	NM_001387777.1(TNS1):c.3641T>A (p.Leu1214Gln)	TNS1 (L1214Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327781	NM_001387777.1(TNS1):c.3616G>A (p.Gly1206Ser)	TNS1 (G1206S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052682	NM_001387777.1(TNS1):c.3597G>A (p.Ser1199=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related disorder	GLikely benign
Select item 3047116	NM_001387777.1(TNS1):c.3549C>T (p.Ser1183=)	TNS1	Single nucleotide variant (synonymous variant)	TNS1-related disorder	GLikely benign
Select item 775812	NM_001387777.1(TNS1):c.3506C>A (p.Thr1169Asn)	TNS1 (T1065N +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3327797	NM_001387777.1(TNS1):c.3502G>A (p.Gly1168Arg)	TNS1 (G1043R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327707	NM_001387777.1(TNS1):c.3490C>T (p.Pro1164Ser)	TNS1 (P1039S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327789	NM_001387777.1(TNS1):c.3460C>T (p.Pro1154Ser)	TNS1 (P1050S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180805	NM_001387777.1(TNS1):c.3442C>T (p.Pro1148Ser)	TNS1 (P1023S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180804	NM_001387777.1(TNS1):c.3424C>G (p.Arg1142Gly)	TNS1 (R1017G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551365	NM_001387777.1(TNS1):c.3410C>T (p.Ala1137Val)	TNS1 (A1020V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180803	NM_001387777.1(TNS1):c.3403C>T (p.Arg1135Trp)	TNS1 (R1010W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050196	NM_001387777.1(TNS1):c.3392A>T (p.Glu1131Val)	TNS1 (E1006V +3 more)	Single nucleotide variant (missense variant)	TNS1-related disorder	GBenign
Select item 2354766	NM_001387777.1(TNS1):c.3380G>A (p.Arg1127Gln)	TNS1 (R1002Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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