ClinVar for MedGen (Select 462017) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336665	NM_007254.4(PNKP):c.1298+2T>A	PNKP	Single nucleotide variant (splice donor variant)	Microcephaly, seizures, and developmental delay +1 more	GLikely pathogenic
Select item 2585035	NM_007254.4(PNKP):c.1314_1317dup (p.Ala440fs)	PNKP (A440fs)	Duplication (frameshift variant)	Microcephaly, seizures, and developmental delay	GLikely pathogenic
Select item 1806352	NM_007254.4(PNKP):c.1286_1287insTAAGC (p.Ser430fs)	PNKP (S430fs)	Insertion (frameshift variant)	Microcephaly, seizures, and developmental delay	GPathogenic
Select item 1691707	NM_016359.5(NUSAP1):c.1209C>A (p.Tyr403Ter)	NUSAP1 (Y340* +4 more)	Single nucleotide variant (nonsense)	Microcephaly, seizures, and developmental delay	GLikely pathogenic
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 1453676	NM_007254.4(PNKP):c.721G>T (p.Glu241Ter)	PNKP (E241*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 2B2 +4 more	GPathogenic/Likely pathogenic
Select item 1339147	NM_007254.4(PNKP):c.356C>A (p.Pro119Gln)	PNKP (P119Q)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay	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 1300178	NM_007254.4(PNKP):c.1299-5_1303del	PNKP	Deletion (splice acceptor variant)	Microcephaly, seizures, and developmental delay	GPathogenic
Select item 988584	NM_007254.4(PNKP):c.311T>C (p.Leu104Pro)	PNKP (L104P)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay	GUncertain significance
Select item 982768	NM_007254.4(PNKP):c.151G>C (p.Val51Leu)	PNKP (V51L)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay	GUncertain significance
Select item 977906	NM_007254.4(PNKP):c.829dup (p.Thr277fs)	PNKP (T277fs)	Duplication (frameshift variant)	Microcephaly, seizures, and developmental delay	GLikely pathogenic
Select item 977855	NM_007254.4(PNKP):c.286G>C (p.Val96Leu)	PNKP (V96L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 977854	NM_007254.4(PNKP):c.103A>G (p.Arg35Gly)	PNKP (R35G)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay	GLikely pathogenic
Select item 894691	NM_007254.4(PNKP):c.*43G>A	PNKP	Single nucleotide variant (3 prime UTR variant)	Microcephaly, seizures, and developmental delay	GUncertain significance
Select item 893824	NM_007254.4(PNKP):c.-90G>A	PNKP	Single nucleotide variant (5 prime UTR variant)	Microcephaly, seizures, and developmental delay	GUncertain significance
Select item 893801	NM_007254.4(PNKP):c.1126+5G>A	PNKP	Single nucleotide variant (intron variant)	Microcephaly, seizures, and developmental delay	GUncertain significance
Select item 893800	NM_007254.4(PNKP):c.1126+15C>T	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12 +1 more	GConflicting classifications of pathogenicity
Select item 893799	NM_007254.4(PNKP):c.1198G>C (p.Gly400Arg)	PNKP (G400R)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay	GUncertain significance
Select item 893526	NM_007254.4(PNKP):c.-21G>C	PNKP	Single nucleotide variant (5 prime UTR variant)	Microcephaly, seizures, and developmental delay	GUncertain significance
Select item 893525	NM_007254.4(PNKP):c.42C>T (p.Ser14=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +1 more	GConflicting classifications of pathogenicity
Select item 893500	NM_007254.4(PNKP):c.1286C>G (p.Ala429Gly)	PNKP (A429G)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay	GUncertain significance
Select item 892704	NM_007254.4(PNKP):c.1422G>A (p.Val474=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +1 more	GConflicting classifications of pathogenicity
Select item 844974	NM_007254.4(PNKP):c.264G>T (p.Gly88=)	PNKP	Single nucleotide variant (synonymous variant)	Microcephaly, seizures, and developmental delay +2 more	GConflicting classifications of pathogenicity
Select item 834941	NM_007254.4(PNKP):c.775C>T (p.Arg259Trp)	PNKP (R259W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 813902	NM_007254.4(PNKP):c.1133A>C (p.Lys378Thr)	PNKP (K378T)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay	GUncertain significance
Select item 807469	NM_007254.4(PNKP):c.1261_1262insGGGTCGCCATCGACAAC (p.Ile421fs)	PNKP (I421fs)	Insertion (frameshift variant)	Microcephaly, seizures, and developmental delay	GPathogenic
Select item 743299	NM_007254.4(PNKP):c.499-7A>C	PNKP	Single nucleotide variant (intron variant)	Microcephaly, seizures, and developmental delay +3 more	GLikely benign
Select item 698800	NM_007254.4(PNKP):c.822C>T (p.Asn274=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +2 more	GConflicting classifications of pathogenicity
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 631816	NM_007254.4(PNKP):c.1288_1298+1del	PNKP	Deletion (splice donor variant)	Microcephaly, seizures, and developmental delay	GUncertain significance
Select item 588741	NM_007254.4(PNKP):c.56C>T (p.Ala19Val)	PNKP (A19V)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay +3 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 569918	NM_007254.4(PNKP):c.107G>A (p.Gly36Glu)	PNKP (G36E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +1 more	GUncertain significance
Select item 568677	NM_007254.4(PNKP):c.131G>A (p.Arg44Gln)	PNKP (R44Q)	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)	Ataxia - oculomotor apraxia type 4 +4 more	GUncertain significance
Select item 560654	NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu)	PNKP (F463L)	Single nucleotide variant (missense variant)	Ataxia - oculomotor apraxia type 4 +2 more	GUncertain significance
Select item 499433	NM_007254.4(PNKP):c.1413T>C (p.His471=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +2 more	GConflicting classifications of pathogenicity
Select item 471506	NM_007254.4(PNKP):c.58C>A (p.Pro20Thr)	PNKP (P20T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B2 +4 more	GUncertain significance
Select item 436354	NM_007254.4(PNKP):c.636+1G>T	PNKP	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease type 2B2 +3 more	GPathogenic/Likely pathogenic
Select item 409614	NM_007254.4(PNKP):c.1381A>G (p.Asn461Asp)	PNKP (N461D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +4 more	GUncertain significance
Select item 384948	NM_007254.4(PNKP):c.1158C>G (p.Leu386=)	PNKP	Single nucleotide variant (synonymous variant)	Microcephaly, seizures, and developmental delay +2 more	GConflicting classifications of pathogenicity
Select item 384389	NM_007254.4(PNKP):c.199-15C>T	PNKP	Single nucleotide variant (intron variant)	Microcephaly, seizures, and developmental delay +2 more	GConflicting classifications of pathogenicity
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 329898	NM_007254.4(PNKP):c.-105G>A	PNKP	Single nucleotide variant (5 prime UTR variant)	Microcephaly, seizures, and developmental delay	GUncertain significance
Select item 329897	NM_007254.4(PNKP):c.-74G>A	PNKP	Single nucleotide variant (5 prime UTR variant)	Microcephaly, seizures, and developmental delay	GUncertain significance
Select item 329896	NM_007254.4(PNKP):c.109C>G (p.Pro37Ala)	PNKP (P37A)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay	GUncertain significance
Select item 329895	NM_007254.4(PNKP):c.579-5C>T	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12 +1 more	GConflicting classifications of pathogenicity
Select item 329894	NM_007254.4(PNKP):c.1231_1234del (p.Thr411fs)	PNKP (T411fs)	Deletion (frameshift variant)	Microcephaly, seizures, and developmental delay	GUncertain significance
Select item 329893	NM_007254.4(PNKP):c.1320C>T (p.Ala440=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +2 more	GConflicting classifications of pathogenicity
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 329891	NM_007254.4(PNKP):c.1390C>A (p.Arg464=)	PNKP	Single nucleotide variant (synonymous variant)	Microcephaly, seizures, and developmental delay	GUncertain significance
Select item 329890	NM_007254.4(PNKP):c.*21A>C	PNKP	Single nucleotide variant (3 prime UTR variant)	Microcephaly, seizures, and developmental delay +1 more	GBenign
Select item 329889	NM_007254.4(PNKP):c.*23A>C	PNKP	Single nucleotide variant (3 prime UTR variant)	Microcephaly, seizures, and developmental delay	GUncertain significance
Select item 285527	NM_007254.4(PNKP):c.1559A>G (p.Glu520Gly)	PNKP (E520G)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay +3 more	GUncertain significance
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
Select item 211920	NM_007254.4(PNKP):c.498G>A (p.Lys166=)	PNKP	Single nucleotide variant (synonymous variant)	not specified +2 more	GUncertain significance
Select item 211919	NM_007254.4(PNKP):c.1386+49_1387-33del	PNKP	Deletion	Microcephaly, seizures, and developmental delay +3 more	GPathogenic
Select item 206421	NM_007254.4(PNKP):c.19C>T (p.Pro7Ser)	PNKP (P7S)	Single nucleotide variant (missense variant)	not provided +4 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 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 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 206412	NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly)	PNKP (A441G)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 206408	NM_007254.4(PNKP):c.1256T>A (p.Val419Asp)	PNKP (V419D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 206401	NM_007254.4(PNKP):c.1029+2T>C	PNKP	Single nucleotide variant (splice donor variant)	Microcephaly, seizures, and developmental delay +6 more	GConflicting classifications of pathogenicity
Select item 206399	NM_007254.4(PNKP):c.1003G>T (p.Gly335Cys)	PNKP (G335C)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay +2 more	GUncertain significance
Select item 206392	NM_007254.4(PNKP):c.673G>A (p.Gly225Arg)	PNKP (G225R)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay +3 more	GConflicting classifications of pathogenicity
Select item 206372	NM_007254.4(PNKP):c.-35T>C	PNKP	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 198198	NM_007254.4(PNKP):c.625G>A (p.Glu209Lys)	PNKP (E209K)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 197287	NM_007254.4(PNKP):c.290A>G (p.Asn97Ser)	PNKP (N97S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +5 more	GUncertain significance
Select item 194242	NM_007254.4(PNKP):c.1177C>T (p.His393Tyr)	PNKP (H393Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +4 more	GUncertain significance
Select item 190219	NM_007254.4(PNKP):c.1221_1223del (p.Thr408del)	PNKP (T408del)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease type 2B2 +3 more	GPathogenic/Likely pathogenic
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 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 159803	NM_007254.4(PNKP):c.968C>T (p.Thr323Met)	PNKP (T323M)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay +4 more	GConflicting classifications of pathogenicity
Select item 159802	NM_007254.4(PNKP):c.861G>C (p.Val287=)	PNKP	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 159800	NM_007254.4(PNKP):c.744+8T>C	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12 +1 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 159798	NM_007254.4(PNKP):c.666C>T (p.Ile222=)	PNKP	Single nucleotide variant (synonymous variant)	Microcephaly, seizures, and developmental delay +3 more	GConflicting classifications of pathogenicity
Select item 159797	NM_007254.4(PNKP):c.579-4G>A	PNKP	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 159796	NM_007254.4(PNKP):c.498+23A>T	PNKP	Single nucleotide variant (intron variant)	Microcephaly, seizures, and developmental delay +4 more	GBenign
Select item 159795	NM_007254.4(PNKP):c.457T>C (p.Leu153=)	PNKP	Single nucleotide variant (synonymous variant)	Microcephaly, seizures, and developmental delay	GUncertain significance
Select item 159794	NM_007254.4(PNKP):c.416G>A (p.Arg139His)	PNKP (R139H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B2 +6 more	GConflicting classifications of pathogenicity
Select item 159793	NM_007254.4(PNKP):c.302C>T (p.Pro101Leu)	PNKP (P101L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 159792	NM_007254.4(PNKP):c.188C>T (p.Ala63Val)	PNKP (A63V)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 159791	NM_007254.4(PNKP):c.151+18T>G	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12 +2 more	GConflicting classifications of pathogenicity
Select item 159790	NM_007254.4(PNKP):c.1482C>A (p.Gly494=)	PNKP	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 159789	NM_007254.4(PNKP):c.1319C>G (p.Ala440Gly)	PNKP (A440G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +1 more	GUncertain significance
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 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 138725	NM_007254.4(PNKP):c.1522G>A (p.Glu508Lys)	PNKP (E508K)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay +4 more	GConflicting classifications of pathogenicity
Select item 138723	NM_007254.4(PNKP):c.1433T>G (p.Val478Gly)	PNKP (V478G)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay +3 more	GBenign/Likely benign
Select item 138719	NM_007254.4(PNKP):c.1126+9C>T	PNKP	Single nucleotide variant (intron variant)	Microcephaly, seizures, and developmental delay +2 more	GConflicting classifications of pathogenicity
Select item 138717	NM_007254.4(PNKP):c.939T>C (p.Phe313=)	PNKP	Single nucleotide variant (synonymous variant)	Microcephaly, seizures, and developmental delay +4 more	GBenign/Likely benign
Select item 138715	NM_007254.4(PNKP):c.-50G>C	PNKP	Single nucleotide variant (5 prime UTR variant)	Microcephaly, seizures, and developmental delay +1 more	GBenign/Likely benign
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 138712	NM_007254.4(PNKP):c.783G>A (p.Pro261=)	PNKP	Single nucleotide variant (synonymous variant)	Microcephaly, seizures, and developmental delay +4 more	GBenign/Likely benign
Select item 138711	NM_007254.4(PNKP):c.672C>T (p.Arg224=)	PNKP	Single nucleotide variant (synonymous variant)	Microcephaly, seizures, and developmental delay +4 more	GConflicting classifications of pathogenicity

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