"Ambry Genetics"[submitter] AND "PNKP"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 138726	NM_007254.4(PNKP):c.1557C>T (p.Ser519=)	PNKP	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 700295	NM_007254.4(PNKP):c.1551G>A (p.Gln517=)	PNKP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
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 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 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 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 2316046	NM_007254.4(PNKP):c.1496T>C (p.Leu499Pro)	PNKP (L499P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 589839	NM_007254.4(PNKP):c.1482C>T (p.Gly494=)	PNKP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
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 1772258	NM_007254.4(PNKP):c.1420G>T (p.Val474Leu)	PNKP (V474L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589042	NM_007254.4(PNKP):c.1412A>C (p.His471Pro)	PNKP (H471P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 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 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 3215897	NM_007254.4(PNKP):c.1387T>C (p.Phe463Leu)	PNKP (F463L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 578760	NM_007254.4(PNKP):c.1358C>A (p.Thr453Asn)	PNKP (T453N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +1 more	GUncertain significance
Select item 1531297	NM_007254.4(PNKP):c.1326C>T (p.Gly442=)	PNKP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
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 1652687	NM_007254.4(PNKP):c.1323G>A (p.Ala441=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +1 more	GLikely benign
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 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 2227751	NM_007254.4(PNKP):c.1299-5C>A	PNKP	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
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 206426	NM_007254.4(PNKP):c.1288_1294dup (p.Ala432fs)	PNKP (A432fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 1769110	NM_007254.4(PNKP):c.1291C>T (p.Arg431Cys)	PNKP (R431C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 589380	NM_007254.4(PNKP):c.1255_1258dup (p.Ala420fs)	PNKP (A420fs)	Duplication (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 138720	NM_007254.4(PNKP):c.1257C>T (p.Val419=)	PNKP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 206407	NM_007254.4(PNKP):c.1255G>A (p.Val419Ile)	PNKP (V419I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 415708	NM_007254.4(PNKP):c.1236C>T (p.Ala412=)	PNKP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 385707	NM_007254.4(PNKP):c.1233A>G (p.Thr411=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +2 more	GLikely benign
Select item 663468	NM_007254.4(PNKP):c.1211G>A (p.Arg404His)	PNKP (R404H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 194398	NM_007254.4(PNKP):c.1210C>T (p.Arg404Cys)	PNKP (R404C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +2 more	GUncertain significance
Select item 590163	NM_007254.4(PNKP):c.1189-3C>T	PNKP	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 588240	NM_007254.4(PNKP):c.1156C>T (p.Leu386Phe)	PNKP (L386F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307898	NM_007254.4(PNKP):c.1154A>T (p.His385Leu)	PNKP (H385L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 206404	NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg)	PNKP (G377R)	Single nucleotide variant (missense variant)	Ataxia - oculomotor apraxia type 4 +3 more	GConflicting classifications of pathogenicity
Select item 187766	NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp)	PNKP (G375W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic
Select item 574517	NM_007254.4(PNKP):c.1120C>T (p.Pro374Ser)	PNKP (P374S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 452807	NM_007254.4(PNKP):c.1098G>C (p.Glu366Asp)	PNKP (E366D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2553373	NM_007254.4(PNKP):c.1060C>T (p.Leu354Phe)	PNKP (L354F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 587403	NM_007254.4(PNKP):c.1052C>T (p.Pro351Leu)	PNKP (P351L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 589244	NM_007254.4(PNKP):c.1048G>C (p.Gly350Arg)	PNKP (G350R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 138718	NM_007254.4(PNKP):c.1032G>A (p.Arg344=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +3 more	GBenign/Likely benign
Select item 206401	NM_007254.4(PNKP):c.1029+2T>C	PNKP	Single nucleotide variant (splice donor variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 391407	NM_007254.4(PNKP):c.1009G>C (p.Glu337Gln)	PNKP (E337Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 582794	NM_007254.4(PNKP):c.1003G>A (p.Gly335Ser)	PNKP (G335S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +4 more	GUncertain significance
Select item 159804	NM_007254.4(PNKP):c.994C>T (p.Pro332Ser)	PNKP (P332S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2251032	NM_007254.4(PNKP):c.991T>C (p.Trp331Arg)	PNKP (W331R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 764964	NM_007254.4(PNKP):c.987C>T (p.Leu329=)	PNKP	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1768115	NM_007254.4(PNKP):c.973GAG[1] (p.Glu326del)	PNKP (E326del)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 159803	NM_007254.4(PNKP):c.968C>T (p.Thr323Met)	PNKP (T323M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2043754	NM_007254.4(PNKP):c.943C>T (p.Leu315Phe)	PNKP (L315F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +1 more	GUncertain significance
Select item 138717	NM_007254.4(PNKP):c.939T>C (p.Phe313=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +4 more	GBenign/Likely benign
Select item 589305	NM_007254.4(PNKP):c.937-2A>G	PNKP	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2296794	NM_007254.4(PNKP):c.928G>C (p.Asp310His)	PNKP (D310H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 95491	NM_007254.4(PNKP):c.901C>T (p.Arg301Trp)	PNKP (R301W)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay +4 more	GConflicting classifications of pathogenicity
Select item 590120	NM_007254.4(PNKP):c.897G>A (p.Pro299=)	PNKP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 372615	NM_007254.4(PNKP):c.893C>T (p.Ala298Val)	PNKP (A298V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3215900	NM_007254.4(PNKP):c.881C>T (p.Pro294Leu)	PNKP (P294L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 138714	NM_007254.4(PNKP):c.876A>G (p.Gly292=)	PNKP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1497182	NM_007254.4(PNKP):c.865+1G>A	PNKP	Single nucleotide variant (splice donor variant)	Microcephaly, seizures, and developmental delay +2 more	GLikely pathogenic
Select item 1763848	NM_007254.4(PNKP):c.855C>G (p.Ile285Met)	PNKP (I285M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 538887	NM_007254.4(PNKP):c.821_841del (p.Asn274_Ser280del)	PNKP	Deletion (inframe_deletion)	Inborn genetic diseases +1 more	GUncertain significance
Select item 95489	NM_007254.4(PNKP):c.831G>A (p.Thr277=)	PNKP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 588170	NM_007254.4(PNKP):c.824A>G (p.Asp275Gly)	PNKP (D275G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1761756	NM_007254.4(PNKP):c.803A>G (p.His268Arg)	PNKP (H268R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 138712	NM_007254.4(PNKP):c.783G>A (p.Pro261=)	PNKP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 578570	NM_007254.4(PNKP):c.776G>A (p.Arg259Gln)	PNKP (R259Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 95487	NM_007254.4(PNKP):c.763G>A (p.Ala255Thr)	PNKP (A255T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 377243	NM_007254.4(PNKP):c.730G>C (p.Gly244Arg)	PNKP (G244R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1757795	NM_007254.4(PNKP):c.722A>C (p.Glu241Ala)	PNKP (E241A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 588004	NM_007254.4(PNKP):c.716T>C (p.Val239Ala)	PNKP (V239A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 590136	NM_007254.4(PNKP):c.687C>T (p.Ala229=)	PNKP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 378397	NM_007254.4(PNKP):c.678G>A (p.Lys226=)	PNKP	Single nucleotide variant (synonymous variant)	Microcephaly, seizures, and developmental delay +4 more	GConflicting classifications of pathogenicity
Select item 206392	NM_007254.4(PNKP):c.673G>A (p.Gly225Arg)	PNKP (G225R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 138711	NM_007254.4(PNKP):c.672C>T (p.Arg224=)	PNKP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 159799	NM_007254.4(PNKP):c.671G>A (p.Arg224His)	PNKP (R224H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +3 more	GUncertain significance
Select item 206391	NM_007254.4(PNKP):c.670C>T (p.Arg224Cys)	PNKP (R224C)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 3215899	NM_007254.4(PNKP):c.667G>C (p.Gly223Arg)	PNKP (G223R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 206389	NM_007254.4(PNKP):c.666C>G (p.Ile222Met)	PNKP (I222M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 198549	NM_007254.4(PNKP):c.650C>G (p.Thr217Ser)	PNKP (T217S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +4 more	GConflicting classifications of pathogenicity
Select item 211922	NM_007254.4(PNKP):c.627G>A (p.Glu209=)	PNKP	Single nucleotide variant (synonymous variant)	Microcephaly, seizures, and developmental delay +4 more	GConflicting classifications of pathogenicity

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