C3150988[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 285527	NM_007254.4(PNKP):c.1559A>G (p.Glu520Gly)	PNKP (E520G)	Single nucleotide variant (missense variant)	Ataxia - oculomotor apraxia type 4 +3 more	GUncertain significance
Select item 138726	NM_007254.4(PNKP):c.1557C>T (p.Ser519=)	PNKP	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 206419	NM_007254.4(PNKP):c.1510C>G (p.Arg504Gly)	PNKP (R504G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 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 138723	NM_007254.4(PNKP):c.1433T>G (p.Val478Gly)	PNKP (V478G)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
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 499433	NM_007254.4(PNKP):c.1413T>C (p.His471=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +3 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 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 95478	NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)	PNKP (L454M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +5 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 specified +4 more	GBenign/Likely benign
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 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 95477	NM_007254.4(PNKP):c.1189-10del	PNKP	Deletion (intron variant)	not specified +4 more	GBenign/Likely benign
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 95476	NM_007254.4(PNKP):c.1127-8C>T	PNKP	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
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 206401	NM_007254.4(PNKP):c.1029+2T>C	PNKP	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 138717	NM_007254.4(PNKP):c.939T>C (p.Phe313=)	PNKP	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 95491	NM_007254.4(PNKP):c.901C>T (p.Arg301Trp)	PNKP (R301W)	Single nucleotide variant (missense variant)	Ataxia - oculomotor apraxia type 4 +5 more	GConflicting classifications of pathogenicity
Select item 95489	NM_007254.4(PNKP):c.831G>A (p.Thr277=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +4 more	GConflicting classifications of pathogenicity
Select item 698800	NM_007254.4(PNKP):c.822C>T (p.Asn274=)	PNKP	Single nucleotide variant (synonymous variant)	not provided +2 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 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)	Developmental and epileptic encephalopathy, 12 +3 more	GConflicting classifications of pathogenicity
Select item 198549	NM_007254.4(PNKP):c.650C>G (p.Thr217Ser)	PNKP (T217S)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 138710	NM_007254.4(PNKP):c.636+7G>A	PNKP	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B2 +4 more	GBenign/Likely benign
Select item 211922	NM_007254.4(PNKP):c.627G>A (p.Glu209=)	PNKP	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 138709	NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn)	PNKP (Y196N)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 95484	NM_007254.4(PNKP):c.579G>A (p.Arg193=)	PNKP	Single nucleotide variant (synonymous variant)	Microcephaly, seizures, and developmental delay +6 more	GBenign/Likely benign
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 138708	NM_007254.4(PNKP):c.519C>T (p.Asp173=)	PNKP	Single nucleotide variant (synonymous variant)	Microcephaly, seizures, and developmental delay +4 more	GConflicting classifications of pathogenicity
Select item 159794	NM_007254.4(PNKP):c.416G>A (p.Arg139His)	PNKP (R139H)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 197287	NM_007254.4(PNKP):c.290A>G (p.Asn97Ser)	PNKP (N97S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B2 +5 more	GUncertain significance
Select item 844974	NM_007254.4(PNKP):c.264G>T (p.Gly88=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +2 more	GConflicting classifications of pathogenicity
Select item 384389	NM_007254.4(PNKP):c.199-15C>T	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12 +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)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
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 95486	NM_007254.4(PNKP):c.58C>T (p.Pro20Ser)	PNKP (P20S)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay +4 more	GBenign/Likely benign
Select item 588741	NM_007254.4(PNKP):c.56C>T (p.Ala19Val)	PNKP (A19V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 206421	NM_007254.4(PNKP):c.19C>T (p.Pro7Ser)	PNKP (P7S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 897290	NM_015192.4(PLCB1):c.-330C>T	PLCB1	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy, 12 +1 more	GConflicting classifications of pathogenicity
Select item 897291	NM_015192.4(PLCB1):c.-311T>G	PLCB1	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 897292	NM_015192.4(PLCB1):c.-296A>G	LOC130065408, PLCB1	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 897293	NM_015192.4(PLCB1):c.-222C>G	LOC130065408, PLCB1	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 897294	NM_015192.4(PLCB1):c.-170C>A	LOC130065408, PLCB1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 897295	NM_015192.4(PLCB1):c.-168G>A	LOC130065408, PLCB1	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 339493	NM_015192.4(PLCB1):c.-1G>C	PLCB1	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 898461	NM_015192.4(PLCB1):c.31T>G (p.Leu11Val)	PLCB1 (L11V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +1 more	GUncertain significance
Select item 129917	NM_015192.4(PLCB1):c.99+8T>C	PLCB1	Single nucleotide variant (intron variant)	Early Infantile Epileptic Encephalopathy, Autosomal Recessive +3 more	GBenign/Likely benign
Select item 129899	NM_015192.4(PLCB1):c.102C>T (p.Asp34=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +4 more	GBenign/Likely benign
Select item 339494	NM_015192.4(PLCB1):c.178-15G>A	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12 +2 more	GBenign/Likely benign
Select item 339495	NM_015192.4(PLCB1):c.288G>T (p.Gly96=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +1 more	GConflicting classifications of pathogenicity
Select item 339496	NM_015192.4(PLCB1):c.456G>A (p.Leu152=)	PLCB1	Single nucleotide variant (synonymous variant)	PLCB1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 129898	NM_015192.4(PLCB1):c.458A>T (p.Glu153Val)	PLCB1 (E153V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +3 more	GBenign/Likely benign
Select item 339497	NM_015192.4(PLCB1):c.627A>G (p.Pro209=)	PLCB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 339498	NM_015192.4(PLCB1):c.695+10C>G	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12 +1 more	GConflicting classifications of pathogenicity
Select item 339499	NM_015192.4(PLCB1):c.714A>C (p.Pro238=)	PLCB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 339500	NM_015192.4(PLCB1):c.724G>A (p.Val242Ile)	PLCB1 (V242I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 339501	NM_015192.4(PLCB1):c.890G>A (p.Arg297His)	PLCB1 (R297H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 129916	NM_015192.4(PLCB1):c.924A>G (p.Ser308=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +3 more	GBenign/Likely benign
Select item 129900	NM_015192.4(PLCB1):c.1167+7T>C	PLCB1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 502172	NM_015192.4(PLCB1):c.1230G>A (p.Ser410=)	PLCB1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 129901	NM_015192.4(PLCB1):c.1251-4T>G	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12 +4 more	GBenign/Likely benign
Select item 339502	NM_015192.4(PLCB1):c.1336-13T>C	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GConflicting classifications of pathogenicity
Select item 129902	NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys)	PLCB1 (Y490C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +5 more	GConflicting classifications of pathogenicity
Select item 538892	NM_015192.4(PLCB1):c.1489T>G (p.Phe497Val)	PLCB1 (F497V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 260594	NM_015192.4(PLCB1):c.1491C>T (p.Phe497=)	PLCB1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 339503	NM_015192.4(PLCB1):c.1573A>G (p.Met525Val)	PLCB1 (M525V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 260595	NM_015192.4(PLCB1):c.1581+15C>T	LOC130065410, PLCB1	Single nucleotide variant (intron variant)	Early Infantile Epileptic Encephalopathy, Autosomal Recessive +3 more	GBenign/Likely benign
Select item 339504	NM_015192.4(PLCB1):c.1668A>G (p.Glu556=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GConflicting classifications of pathogenicity
Select item 194661	NM_015192.4(PLCB1):c.1678+10C>T	PLCB1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 339505	NM_015192.4(PLCB1):c.1761A>G (p.Val587=)	PLCB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 631879	NM_015192.4(PLCB1):c.1763+2T>G	PLCB1	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 339506	NM_015192.4(PLCB1):c.1764-6G>C	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GConflicting classifications of pathogenicity
Select item 589976	NM_015192.4(PLCB1):c.1854T>C (p.Gly618=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +2 more	GConflicting classifications of pathogenicity
Select item 415939	NM_015192.4(PLCB1):c.1881G>A (p.Gln627=)	PLCB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 339507	NM_015192.4(PLCB1):c.1888+11G>A	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GConflicting classifications of pathogenicity
Select item 898533	NM_015192.4(PLCB1):c.1962C>T (p.Phe654=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 129903	NM_015192.4(PLCB1):c.2082G>A (p.Gly694=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +4 more	GBenign/Likely benign
Select item 195514	NM_015192.4(PLCB1):c.2088C>T (p.Tyr696=)	PLCB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 895545	NM_015192.4(PLCB1):c.2112G>A (p.Leu704=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GConflicting classifications of pathogenicity
Select item 288545	NM_015192.4(PLCB1):c.2127G>A (p.Arg709=)	PLCB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 129904	NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala)	PLCB1 (P731A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 129905	NM_015192.4(PLCB1):c.2199G>A (p.Val733=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +2 more	GBenign/Likely benign
Select item 339508	NM_015192.4(PLCB1):c.2308+14G>C	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GConflicting classifications of pathogenicity
Select item 339509	NM_015192.4(PLCB1):c.2309-15A>C	PLCB1	Single nucleotide variant (intron variant)	Early Infantile Epileptic Encephalopathy, Autosomal Recessive +2 more	GConflicting classifications of pathogenicity
Select item 339510	NM_015192.4(PLCB1):c.2387A>G (p.Lys796Arg)	PLCB1 (K796R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 195829	NM_015192.4(PLCB1):c.2550G>T (p.Glu850Asp)	PLCB1 (E850D)	Single nucleotide variant (missense variant)	PLCB1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 896947	NM_015192.4(PLCB1):c.2565G>C (p.Ala855=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 129908	NM_015192.4(PLCB1):c.2565G>A (p.Ala855=)	PLCB1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 339511	NM_015192.4(PLCB1):c.2570C>T (p.Thr857Met)	PLCB1 (T857M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 897436	NM_015192.4(PLCB1):c.2571G>A (p.Thr857=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12	GConflicting classifications of pathogenicity
Select item 436321	NM_015192.4(PLCB1):c.2673T>G (p.Pro891=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +4 more	GBenign/Likely benign
Select item 415937	NM_015192.4(PLCB1):c.2841A>G (p.Glu947=)	PLCB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 339512	NM_015192.4(PLCB1):c.2930+13A>G	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 339513	NM_015192.4(PLCB1):c.2930+15T>C	PLCB1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 129909	NM_015192.4(PLCB1):c.2967G>A (p.Thr989=)	PLCB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +4 more	GConflicting classifications of pathogenicity
Select item 339514	NM_015192.4(PLCB1):c.2983G>A (p.Ala995Thr)	PLCB1 (A995T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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