NPAT[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 147281	GRCh38/hg38 11q22.3(chr11:107479091-108222532)x1	ACAT1, ALKBH8 +28 more	Copy number loss	See cases	GPathogenic
Select item 694625	NC_000011.10:g.108151767_108183227del	ATM, LOC128772354 +2 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 1337096	NM_002519.3(NPAT):c.1472_1478del	NPAT	Deletion (3 prime UTR variant)	not specified	GUncertain significance
Select item 1337235	NM_002519.3(NPAT):c.*1355CA[1]	NPAT	Microsatellite (3 prime UTR variant)	not specified	GUncertain significance
Select item 1337363	NM_002519.3(NPAT):c.*1091G>C	NPAT	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 1337453	NM_002519.3(NPAT):c.*1003A>G	NPAT	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1337242	NM_002519.3(NPAT):c.*939A>G	NPAT	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 1338696	NM_002519.3(NPAT):c.836_837del	NPAT	Deletion (3 prime UTR variant)	not specified	GBenign
Select item 1336476	NM_002519.3(NPAT):c.*370C>T	NPAT	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 1338697	NM_002519.3(NPAT):c.*348A>T	NPAT	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3222629	NM_002519.3(NPAT):c.4279G>A (p.Glu1427Lys)	NPAT (E1427K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614885	NM_002519.3(NPAT):c.4275T>C (p.Tyr1425=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1739224	NM_002519.3(NPAT):c.4269G>A (p.Leu1423=)	NPAT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1739202	NM_002519.3(NPAT):c.4266A>G (p.Ser1422=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3222628	NM_002519.3(NPAT):c.4263A>G (p.Leu1421=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2453804	NM_002519.3(NPAT):c.4263A>C (p.Leu1421Phe)	NPAT (L1421F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222627	NM_002519.3(NPAT):c.4258T>C (p.Leu1420=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2453814	NM_002519.3(NPAT):c.4256T>G (p.Phe1419Cys)	NPAT (F1419C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300621	NM_002519.3(NPAT):c.4254A>G (p.Lys1418=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1739105	NM_002519.3(NPAT):c.4253A>G (p.Lys1418Arg)	NPAT (K1418R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1739034	NM_002519.3(NPAT):c.4246G>A (p.Val1416Ile)	NPAT (V1416I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222626	NM_002519.3(NPAT):c.4243G>A (p.Asp1415Asn)	NPAT (D1415N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1338152	NM_002519.3(NPAT):c.4242G>A (p.Met1414Ile)	NPAT (M1414I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1738916	NM_002519.3(NPAT):c.4231C>A (p.Pro1411Thr)	NPAT (P1418T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1738861	NM_002519.3(NPAT):c.4226C>T (p.Ser1409Leu)	NPAT (S1409L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2453815	NM_002519.3(NPAT):c.4225T>G (p.Ser1409Ala)	NPAT (S1409A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1738843	NM_002519.3(NPAT):c.4223G>T (p.Ser1408Ile)	NPAT (S1415I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1738842	NM_002519.3(NPAT):c.4223G>C (p.Ser1408Thr)	NPAT (S1415T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295698	NM_002519.3(NPAT):c.4222A>G (p.Ser1408Gly)	NPAT (S1415G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1738828	NM_002519.3(NPAT):c.4220C>G (p.Pro1407Arg)	NPAT (P1414R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1738797	NM_002519.3(NPAT):c.4219C>G (p.Pro1407Ala)	NPAT (P1407A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337733	NM_002519.3(NPAT):c.4209A>G (p.Lys1403=)	NPAT	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 3300720	NM_002519.3(NPAT):c.4208A>C (p.Lys1403Thr)	NPAT (K1410T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300623	NM_002519.3(NPAT):c.4208A>T (p.Lys1403Ile)	NPAT (K1403I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1738693	NM_002519.3(NPAT):c.4207A>G (p.Lys1403Glu)	NPAT (K1403E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2959512	NM_002519.3(NPAT):c.4206+10A>C	NPAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1738679	NM_002519.3(NPAT):c.4203T>G (p.Ile1401Met)	NPAT (I1401M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1738546	NM_002519.3(NPAT):c.4189A>G (p.Lys1397Glu)	NPAT (K1397E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1738531	NM_002519.3(NPAT):c.4186A>G (p.Met1396Val)	NPAT (M1403V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1738521	NM_002519.3(NPAT):c.4184C>G (p.Pro1395Arg)	NPAT (P1402R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1738517	NM_002519.3(NPAT):c.4183C>A (p.Pro1395Thr)	NPAT (P1402T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1738507	NM_002519.3(NPAT):c.4182A>G (p.Ile1394Met)	NPAT (I1394M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222625	NM_002519.3(NPAT):c.4179A>G (p.Ser1393=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2587677	NM_002519.3(NPAT):c.4179A>T (p.Ser1393=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1738451	NM_002519.3(NPAT):c.4176A>G (p.Ser1392=)	NPAT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2453759	NM_002519.3(NPAT):c.4175C>T (p.Ser1392Leu)	NPAT (S1392L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2453766	NM_002519.3(NPAT):c.4169C>G (p.Thr1390Arg)	NPAT (T1397R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222624	NM_002519.3(NPAT):c.4168A>G (p.Thr1390Ala)	NPAT (T1390A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1738385	NM_002519.3(NPAT):c.4168A>C (p.Thr1390Pro)	NPAT (T1390P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2453760	NM_002519.3(NPAT):c.4166T>G (p.Leu1389Arg)	NPAT (L1389R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1738366	NM_002519.3(NPAT):c.4164T>C (p.Asn1388=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1738354	NM_002519.3(NPAT):c.4163A>C (p.Asn1388Thr)	NPAT (N1388T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1738303	NM_002519.3(NPAT):c.4157G>A (p.Ser1386Asn)	NPAT (S1386N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2562557	NM_002519.3(NPAT):c.4156A>G (p.Ser1386Gly)	NPAT (S1386G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1738293	NM_002519.3(NPAT):c.4156A>T (p.Ser1386Cys)	NPAT (S1393C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1738291	NM_002519.3(NPAT):c.4156A>C (p.Ser1386Arg)	NPAT (S1393R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561411	NM_002519.3(NPAT):c.4154C>T (p.Ser1385Phe)	NPAT (S1385F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1738283	NM_002519.3(NPAT):c.4154C>A (p.Ser1385Tyr)	NPAT (S1392Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3001181	NM_002519.3(NPAT):c.4153T>A (p.Ser1385Thr)	NPAT (S1392T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1738215	NM_002519.3(NPAT):c.4148G>A (p.Arg1383His)	NPAT (R1383H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1738208	NM_002519.3(NPAT):c.4147C>T (p.Arg1383Cys)	NPAT (R1383C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1738207	NM_002519.3(NPAT):c.4146T>A (p.Ser1382=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3300731	NM_002519.3(NPAT):c.4145C>G (p.Ser1382Cys)	NPAT (S1382C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1738194	NM_002519.3(NPAT):c.4144T>G (p.Ser1382Ala)	NPAT (S1382A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1738182	NM_002519.3(NPAT):c.4143C>T (p.Asn1381=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2447453	NM_002519.3(NPAT):c.4142A>G (p.Asn1381Ser)	NPAT (N1381S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1738161	NM_002519.3(NPAT):c.4140A>G (p.Arg1380=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1738121	NM_002519.3(NPAT):c.4137G>C (p.Glu1379Asp)	NPAT (E1379D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222623	NM_002519.3(NPAT):c.4135G>C (p.Glu1379Gln)	NPAT (E1379Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1738107	NM_002519.3(NPAT):c.4134T>C (p.Arg1378=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1738099	NM_002519.3(NPAT):c.4133G>A (p.Arg1378His)	NPAT (R1385H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2890825	NM_002519.3(NPAT):c.4132C>T (p.Arg1378Cys)	NPAT (R1378C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1738061	NM_002519.3(NPAT):c.4128T>C (p.Asp1376=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2453736	NM_002519.3(NPAT):c.4126G>T (p.Asp1376Tyr)	NPAT (D1376Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1738037	NM_002519.3(NPAT):c.4123T>C (p.Leu1375=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3222622	NM_002519.3(NPAT):c.4119G>A (p.Glu1373=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3300723	NM_002519.3(NPAT):c.4117G>C (p.Glu1373Gln)	NPAT (E1373Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2453756	NM_002519.3(NPAT):c.4111A>G (p.Lys1371Glu)	NPAT (K1378E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1737926	NM_002519.3(NPAT):c.4110G>A (p.Arg1370=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3222621	NM_002519.3(NPAT):c.4108C>T (p.Arg1370Trp)	NPAT (R1370W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300668	NM_002519.3(NPAT):c.4107G>A (p.Lys1369=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1737873	NM_002519.3(NPAT):c.4104A>G (p.Lys1368=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2132197	NM_002519.3(NPAT):c.4100_4102dup (p.Thr1367_Lys1368insThr)	NPAT	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2496665	NM_002519.3(NPAT):c.4101A>G (p.Thr1367=)	NPAT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1737794	NM_002519.3(NPAT):c.4099A>G (p.Thr1367Ala)	NPAT (T1367A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1737781	NM_002519.3(NPAT):c.4097C>T (p.Thr1366Ile)	NPAT (T1373I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326338	NM_002519.3(NPAT):c.4094G>T (p.Ser1365Ile)	NPAT (S1365I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1737770	NM_002519.3(NPAT):c.4094G>C (p.Ser1365Thr)	NPAT (S1372T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222620	NM_002519.3(NPAT):c.4093A>G (p.Ser1365Gly)	NPAT (S1365G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300660	NM_002519.3(NPAT):c.4092G>A (p.Arg1364=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3222619	NM_002519.3(NPAT):c.4091G>A (p.Arg1364Lys)	NPAT (R1364K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1737753	NM_002519.3(NPAT):c.4091G>C (p.Arg1364Thr)	NPAT (R1364T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3222618	NM_002519.3(NPAT):c.4088C>T (p.Ser1363Leu)	NPAT (S1363L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1737658	NM_002519.3(NPAT):c.4085C>T (p.Ser1362Phe)	NPAT (S1362F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1737657	NM_002519.3(NPAT):c.4085C>G (p.Ser1362Cys)	NPAT (S1369C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300706	NM_002519.3(NPAT):c.4084T>A (p.Ser1362Thr)	NPAT (S1362T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300659	NM_002519.3(NPAT):c.4083A>G (p.Ala1361=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1737599	NM_002519.3(NPAT):c.4079G>A (p.Arg1360Lys)	NPAT (R1367K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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