"GeneDx"[submitter] AND "PNKP"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 1208797	NC_000019.10:g.49861091dup	PNKP	Duplication	not provided	GLikely benign
Select item 1203607	NC_000019.10:g.49861166T>C	PNKP	Single nucleotide variant	not provided	GLikely benign
Select item 389111	NM_007254.4(PNKP):c.*17C>T	PNKP	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 138727	NM_007254.4(PNKP):c.*15C>T	PNKP	Single nucleotide variant (3 prime UTR variant)	Microcephaly, seizures, and developmental delay +2 more	GConflicting classifications of pathogenicity
Select item 1190679	NM_007254.4(PNKP):c.*5C>G	PNKP	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 138726	NM_007254.4(PNKP):c.1557C>T (p.Ser519=)	PNKP	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 854429	NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter)	PNKP (Q517*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 801423	NM_007254.4(PNKP):c.1541_1548dup (p.Gln517fs)	PNKP (Q517fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 206420	NM_007254.4(PNKP):c.1545C>G (p.Tyr515Ter)	PNKP (Y515*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 206432	NM_007254.4(PNKP):c.1524G>C (p.Glu508Asp)	PNKP (E508D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138725	NM_007254.4(PNKP):c.1522G>A (p.Glu508Lys)	PNKP (E508K)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1312824	NM_007254.4(PNKP):c.1517G>A (p.Trp506Ter)	PNKP (W506*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 383164	NM_007254.4(PNKP):c.1515A>G (p.Leu505=)	PNKP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1053510	NM_007254.4(PNKP):c.1511G>A (p.Arg504Gln)	PNKP (R504Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 568194	NM_007254.4(PNKP):c.1510C>T (p.Arg504Trp)	PNKP (R504W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +1 more	GUncertain significance
Select item 206419	NM_007254.4(PNKP):c.1510C>G (p.Arg504Gly)	PNKP (R504G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 95481	NM_007254.4(PNKP):c.1497G>A (p.Leu499=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +3 more	GBenign/Likely benign
Select item 138724	NM_007254.4(PNKP):c.1495C>T (p.Leu499=)	PNKP	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 538888	NM_007254.4(PNKP):c.1492A>C (p.Ile498Leu)	PNKP (I498L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +1 more	GUncertain significance
Select item 95480	NM_007254.4(PNKP):c.1491C>T (p.Ala497=)	PNKP	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 432917	NM_007254.4(PNKP):c.1483T>C (p.Phe495Leu)	PNKP (F495L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +1 more	GUncertain significance
Select item 426511	NM_007254.4(PNKP):c.1481G>T (p.Gly494Val)	PNKP (G494V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1273876	NM_007254.4(PNKP):c.1471C>T (p.Leu491=)	PNKP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 423477	NM_007254.4(PNKP):c.1449G>C (p.Arg483Ser)	PNKP (R483S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 206377	NM_007254.4(PNKP):c.1449-19C>A	PNKP	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 378401	NM_007254.4(PNKP):c.1448+13A>G	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12 +1 more	GLikely benign
Select item 386864	NM_007254.4(PNKP):c.1448+7T>C	PNKP	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 206376	NM_007254.4(PNKP):c.1441G>A (p.Gly481Ser)	PNKP (G481S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 138723	NM_007254.4(PNKP):c.1433T>G (p.Val478Gly)	PNKP (V478G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 206418	NM_007254.4(PNKP):c.1432G>A (p.Val478Ile)	PNKP (V478I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +2 more	GUncertain significance
Select item 565845	NM_007254.4(PNKP):c.1430T>C (p.Met477Thr)	PNKP (M477T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 206417	NM_007254.4(PNKP):c.1429A>G (p.Met477Val)	PNKP (M477V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3340321	NM_007254.4(PNKP):c.1419dup (p.Val474fs)	PNKP (V474fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 206416	NM_007254.4(PNKP):c.1412A>T (p.His471Leu)	PNKP (H471L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 450340	NM_007254.4(PNKP):c.1402G>A (p.Asp468Asn)	PNKP (D468N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +1 more	GUncertain significance
Select item 538902	NM_007254.4(PNKP):c.1401G>A (p.Thr467=)	PNKP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3371023	NM_007254.4(PNKP):c.1400C>T (p.Thr467Met)	PNKP (T467M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426407	NM_007254.4(PNKP):c.1397T>C (p.Met466Thr)	PNKP (M466T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +2 more	GUncertain significance
Select item 206415	NM_007254.4(PNKP):c.1391G>C (p.Arg464Pro)	PNKP (R464P)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 206375	NM_007254.4(PNKP):c.1387-3_1387-2del	PNKP	Microsatellite (splice acceptor variant)	Developmental and epileptic encephalopathy, 12 +1 more	GConflicting classifications of pathogenicity
Select item 1241854	NM_007254.4(PNKP):c.1387-4A>C	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12 +1 more	GLikely benign
Select item 329892	NM_007254.4(PNKP):c.1387-11G>A	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12 +2 more	GConflicting classifications of pathogenicity
Select item 1212958	NM_007254.4(PNKP):c.1387-47T>C	PNKP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214805	NM_007254.4(PNKP):c.1386+42T>C	PNKP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 389954	NM_007254.4(PNKP):c.1386+19G>T	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12 +1 more	GLikely benign
Select item 379531	NM_007254.4(PNKP):c.1386+1G>A	PNKP	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 206414	NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro)	PNKP (R462P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +3 more	GConflicting classifications of pathogenicity
Select item 95479	NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln)	PNKP (R462Q)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay +4 more	GConflicting classifications of pathogenicity
Select item 589516	NM_007254.4(PNKP):c.1384C>T (p.Arg462Trp)	PNKP (R462W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 206430	NM_007254.4(PNKP):c.1378AAC[1] (p.Asn461del)	PNKP (N461del)	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 409614	NM_007254.4(PNKP):c.1381A>G (p.Asn461Asp)	PNKP (N461D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 3373729	NM_007254.4(PNKP):c.1378A>T (p.Asn460Tyr)	PNKP (N460Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801061	NM_007254.4(PNKP):c.1366C>T (p.Gln456Ter)	PNKP (Q456*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1687640	NM_007254.4(PNKP):c.1365G>C (p.Glu455Asp)	PNKP (E455D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 653942	NM_007254.4(PNKP):c.1360C>G (p.Leu454Val)	PNKP (L454V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +3 more	GUncertain significance
Select item 95478	NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)	PNKP (L454M)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay +5 more	GConflicting classifications of pathogenicity
Select item 514108	NM_007254.4(PNKP):c.1344C>T (p.Phe448=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +1 more	GLikely benign
Select item 3372189	NM_007254.4(PNKP):c.1343T>A (p.Phe448Tyr)	PNKP (F448Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 206374	NM_007254.4(PNKP):c.1329C>T (p.Val443=)	PNKP	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 450843	NM_007254.4(PNKP):c.1325G>C (p.Gly442Ala)	PNKP (G442A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 206413	NM_007254.4(PNKP):c.1324G>A (p.Gly442Ser)	PNKP (G442S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 206429	NM_007254.4(PNKP):c.1317_1321dup (p.Ala441fs)	PNKP (A441fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 2B2 +3 more	GPathogenic/Likely pathogenic
Select item 206412	NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly)	PNKP (A441G)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay +4 more	GBenign/Likely benign
Select item 1092672	NM_007254.4(PNKP):c.1320C>G (p.Ala440=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +1 more	GBenign/Likely benign
Select item 329893	NM_007254.4(PNKP):c.1320C>T (p.Ala440=)	PNKP	Single nucleotide variant (synonymous variant)	Microcephaly, seizures, and developmental delay +2 more	GConflicting classifications of pathogenicity
Select item 379820	NM_007254.4(PNKP):c.1315C>T (p.Arg439Ter)	PNKP (R439*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 12 +1 more	GPathogenic
Select item 206411	NM_007254.4(PNKP):c.1308G>C (p.Gln436His)	PNKP (Q436H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 194527	NM_007254.4(PNKP):c.1302C>T (p.Tyr434=)	PNKP	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 386107	NM_007254.4(PNKP):c.1299-5C>T	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12 +1 more	GLikely benign
Select item 138722	NM_007254.4(PNKP):c.1299-6C>T	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12 +1 more	GBenign/Likely benign
Select item 507282	NM_007254.4(PNKP):c.1299-7C>T	PNKP	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 420246	NM_007254.4(PNKP):c.1299-9_1299-8delinsTT	PNKP	Indel (intron variant)	not specified +1 more	GLikely benign
Select item 681366	NM_007254.4(PNKP):c.1298+20G>T	PNKP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 515211	NM_007254.4(PNKP):c.1298+20G>A	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12 +1 more	GLikely benign
Select item 378400	NM_007254.4(PNKP):c.1298+19C>T	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12 +1 more	GBenign/Likely benign
Select item 516485	NM_007254.4(PNKP):c.1298+12G>A	PNKP	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 509362	NM_007254.4(PNKP):c.1298+8G>C	PNKP	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 206428	NM_007254.4(PNKP):c.1286_1298+6dup	PNKP	Duplication (splice donor variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 420345	NM_007254.4(PNKP):c.1298+2_1298+5dup	PNKP	Duplication (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 159788	NM_007254.4(PNKP):c.1295_1298+6del	PNKP	Deletion (splice donor variant)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +4 more	GPathogenic/Likely pathogenic
Select item 138721	NM_007254.4(PNKP):c.1298+6G>A	PNKP	Single nucleotide variant (intron variant)	Ataxia - oculomotor apraxia type 4 +2 more	GConflicting classifications of pathogenicity
Select item 517814	NM_007254.4(PNKP):c.1298+5C>T	PNKP	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 206427	NM_007254.4(PNKP):c.1293_1298+2dup	PNKP	Duplication (splice donor variant)	not provided	GPathogenic
Select item 423082	NM_007254.4(PNKP):c.1287_1298+1dup	PNKP	Duplication (splice donor variant)	not provided	GLikely pathogenic
Select item 1802106	NM_007254.4(PNKP):c.1283_1296del (p.Ala428fs)	PNKP (A428fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 12 +1 more	GPathogenic/Likely pathogenic
Select item 206426	NM_007254.4(PNKP):c.1288_1294dup (p.Ala432fs)	PNKP (A432fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 817332	NM_007254.4(PNKP):c.1288_1294del (p.Ser430fs)	PNKP (S430fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 504465	NM_007254.4(PNKP):c.1278_1291del (p.Asp427fs)	PNKP (D427fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 12 +2 more	GPathogenic/Likely pathogenic
Select item 2414484	NM_007254.4(PNKP):c.1289G>A (p.Ser430Asn)	PNKP (S430N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 509255	NM_007254.4(PNKP):c.1287G>C (p.Ala429=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +1 more	GLikely benign
Select item 566959	NM_007254.4(PNKP):c.1285_1286delinsCT (p.Ala429Leu)	PNKP (A429L)	Indel (missense variant)	not provided +1 more	GUncertain significance
Select item 538899	NM_007254.4(PNKP):c.1286C>T (p.Ala429Val)	PNKP (A429V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +1 more	GUncertain significance
Select item 1333033	NM_007254.4(PNKP):c.1282G>A (p.Ala428Thr)	PNKP (A428T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 378399	NM_007254.4(PNKP):c.1281C>T (p.Asp427=)	PNKP	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 206410	NM_007254.4(PNKP):c.1274A>G (p.Asn425Ser)	PNKP (N425S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 4847	NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs)	PNKP (T424fs)	Duplication (frameshift variant)	Intellectual disability +5 more	GPathogenic
Select item 511660	NM_007254.4(PNKP):c.1266C>T (p.Asp422=)	PNKP	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 589380	NM_007254.4(PNKP):c.1255_1258dup (p.Ala420fs)	PNKP (A420fs)	Duplication (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic

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