C3809824[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 572602	NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter)	SPG11 (K2200* +1 more)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis type 5 +5 more	GPathogenic
Select item 129994	NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)	POLG, POLGARF (V1044A)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 4b +11 more	GConflicting classifications of pathogenicity
Select item 584218	NC_000021.8:g.(?_33974153)_(34074377_?)dup	CFAP298, CFAP298-TCP10L +4 more	Duplication	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 858730	NM_203446.3(SYNJ1):c.*807A>G	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 964521	NM_203446.3(SYNJ1):c.*806G>C	SYNJ1 (R1612T +1 more)	Single nucleotide variant (missense variant +1 more)	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 952732	NM_203446.3(SYNJ1):c.*806G>A	SYNJ1 (R1526K +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 2156232	NM_203446.3(SYNJ1):c.*801A>G	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +2 more	GLikely benign
Select item 1673659	NM_203446.3(SYNJ1):c.*798T>C	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 1495761	NM_203446.3(SYNJ1):c.*797T>A	SYNJ1 (F1523Y +1 more)	Single nucleotide variant (missense variant +1 more)	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 1376690	NM_203446.3(SYNJ1):c.*793G>T	SYNJ1 (D1522Y +1 more)	Single nucleotide variant (missense variant +1 more)	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 1924239	NM_203446.3(SYNJ1):c.*783A>G	SYNJ1	Single nucleotide variant (synonymous variant +1 more)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 2072086	NM_203446.3(SYNJ1):c.*778G>A	SYNJ1 (A1517T +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 863244	NM_203446.3(SYNJ1):c.*770C>T	SYNJ1 (A1514V +1 more)	Single nucleotide variant (missense variant +1 more)	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 1919622	NM_203446.3(SYNJ1):c.*769G>A	SYNJ1 (A1600T +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 639005	NM_203446.3(SYNJ1):c.*767T>G	SYNJ1 (L1599W +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 965663	NM_203446.3(SYNJ1):c.*763A>G	SYNJ1 (T1512A +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 2940733	NM_203446.3(SYNJ1):c.*762G>C	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 1591546	NM_203446.3(SYNJ1):c.*762G>A	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 478362	NM_203446.3(SYNJ1):c.*761C>T	SYNJ1 (T1597M +1 more)	Single nucleotide variant (missense variant +1 more)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 1038118	NM_203446.3(SYNJ1):c.*755C>T	SYNJ1 (P1509L +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 1160648	NM_203446.3(SYNJ1):c.*753T>C	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2937749	NM_203446.3(SYNJ1):c.*750A>G	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 2157434	NM_203446.3(SYNJ1):c.*743C>A	SYNJ1 (P1505H +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 1094900	NM_203446.3(SYNJ1):c.*741C>T	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2095205	NM_203446.3(SYNJ1):c.*740G>A	SYNJ1 (S1504N +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 544588	NM_203446.3(SYNJ1):c.*738C>T	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 948839	NM_203446.3(SYNJ1):c.*737C>G	SYNJ1 (T1503S +1 more)	Single nucleotide variant (missense variant +1 more)	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 946789	NM_203446.3(SYNJ1):c.*733G>A	SYNJ1 (G1502S +1 more)	Single nucleotide variant (missense variant +1 more)	SYNJ1-related condition +2 more	GUncertain significance
Select item 783108	NM_203446.3(SYNJ1):c.*732C>T	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Early-onset Parkinson disease 20 +2 more	GBenign/Likely benign
Select item 2098098	NM_203446.3(SYNJ1):c.*731C>T	SYNJ1 (P1501L +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 1097087	NM_203446.3(SYNJ1):c.*729G>A	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 478361	NM_203446.3(SYNJ1):c.*728C>T	SYNJ1 (P1586L +1 more)	Single nucleotide variant (missense variant +1 more)	Early-onset Parkinson disease 20 +4 more	GLikely benign
Select item 955394	NM_203446.3(SYNJ1):c.*719CT[1]	SYNJ1 (L1498fs +1 more)	Microsatellite (frameshift variant +1 more)	Early-onset Parkinson disease 20 +2 more	GUncertain significance
Select item 1649311	NM_203446.3(SYNJ1):c.*721C>T	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 1550220	NM_203446.3(SYNJ1):c.*720T>C	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2173630	NM_203446.3(SYNJ1):c.*719C>G	SYNJ1 (P1497R +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 854482	NM_203446.3(SYNJ1):c.*712C>T	SYNJ1 (P1495S +1 more)	Single nucleotide variant (missense variant +1 more)	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 951974	NM_203446.3(SYNJ1):c.*709C>T	SYNJ1 (P1494S +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +2 more	GUncertain significance
Select item 1380991	NM_203446.3(SYNJ1):c.*707C>T	SYNJ1 (P1579L +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 1981756	NM_203446.3(SYNJ1):c.*704C>T	SYNJ1 (P1492L +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 953612	NM_203446.3(SYNJ1):c.*704C>G	SYNJ1 (P1492R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1957447	NM_203446.3(SYNJ1):c.*703C>T	SYNJ1 (P1492S +1 more)	Single nucleotide variant (missense variant +1 more)	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 2100783	NM_203446.3(SYNJ1):c.*690G>T	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 1169968	NM_203446.3(SYNJ1):c.*690G>A	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Early-onset Parkinson disease 20 +2 more	GBenign/Likely benign
Select item 944936	NM_203446.3(SYNJ1):c.*689C>T	SYNJ1 (P1487L +1 more)	Single nucleotide variant (missense variant +1 more)	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 1938260	NM_203446.3(SYNJ1):c.*684G>A	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2935459	NM_203446.3(SYNJ1):c.*681T>C	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 1379613	NM_203446.3(SYNJ1):c.*679T>A	SYNJ1 (C1484S +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 708218	NM_203446.3(SYNJ1):c.677_679del	SYNJ1 (F1569del +1 more)	Deletion (inframe_deletion +2 more)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 662893	NM_203446.3(SYNJ1):c.*678C>G	SYNJ1 (F1569L +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +3 more	GUncertain significance
Select item 943773	NM_203446.3(SYNJ1):c.*676T>C	SYNJ1 (F1569L +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 2061636	NM_203446.3(SYNJ1):c.*669T>C	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 1025546	NM_203446.3(SYNJ1):c.*668A>C	SYNJ1 (N1480T +1 more)	Single nucleotide variant (missense variant +1 more)	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 657310	NM_203446.3(SYNJ1):c.*666A>G	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 1149531	NM_203446.3(SYNJ1):c.*665C>G	SYNJ1 (T1479R +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2187383	NM_203446.3(SYNJ1):c.*661G>A	SYNJ1 (G1478S +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 1466276	NM_203446.3(SYNJ1):c.*644A>G	SYNJ1 (N1558S +1 more)	Single nucleotide variant (missense variant +1 more)	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 1491370	NM_203446.3(SYNJ1):c.*643A>C	SYNJ1 (N1558H +1 more)	Single nucleotide variant (missense variant +1 more)	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 1346321	NM_203446.3(SYNJ1):c.*641dup	SYNJ1 (L1557fs +1 more)	Duplication (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 2934275	NM_203446.3(SYNJ1):c.*639A>G	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 852145	NM_203446.3(SYNJ1):c.*638C>T	SYNJ1 (T1556I +1 more)	Single nucleotide variant (missense variant +1 more)	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 2941773	NM_203446.3(SYNJ1):c.*634C>T	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 1093632	NM_203446.3(SYNJ1):c.*633C>T	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 1504698	NM_203446.3(SYNJ1):c.*628T>A	SYNJ1 (S1467T +1 more)	Single nucleotide variant (missense variant +1 more)	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 2145728	NM_203446.3(SYNJ1):c.*626G>A	SYNJ1 (G1552D +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 767326	NM_203446.3(SYNJ1):c.*618A>G	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 956367	NM_203446.3(SYNJ1):c.*613A>C	SYNJ1 (S1462R +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 573244	NM_203446.3(SYNJ1):c.*613A>G	SYNJ1 (S1548G +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 478360	NM_203446.3(SYNJ1):c.*611C>T	SYNJ1 (P1547L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1943511	NM_203446.3(SYNJ1):c.*604A>C	SYNJ1 (N1459H +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 2108796	NM_203446.3(SYNJ1):c.*602G>T	SYNJ1 (G1458V +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 951973	NM_203446.3(SYNJ1):c.*602G>A	SYNJ1 (G1544D +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 1059323	NM_203446.3(SYNJ1):c.*598C>A	SYNJ1 (L1457M +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 1479133	NM_203446.3(SYNJ1):c.*594C>G	SYNJ1 (D1541E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 836370	NM_203446.3(SYNJ1):c.576_584del	SYNJ1	Deletion (inframe_deletion +2 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 2932223	NM_203446.3(SYNJ1):c.*576A>G	SYNJ1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 478359	NM_203446.3(SYNJ1):c.*574T>A	SYNJ1 (S1535T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1361368	NM_203446.3(SYNJ1):c.*560del	SYNJ1 (G1444fs +1 more)	Deletion (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 478358	NM_203446.3(SYNJ1):c.*552G>A	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Early-onset Parkinson disease 20 +2 more	GLikely benign
Select item 961882	NM_203446.3(SYNJ1):c.*541G>A	SYNJ1 (E1438K +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 1114590	NM_203446.3(SYNJ1):c.*540C>T	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 1361858	NM_203446.3(SYNJ1):c.*536C>T	SYNJ1 (T1436I +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 1505272	NM_203446.3(SYNJ1):c.*530G>A	SYNJ1 (W1434* +1 more)	Single nucleotide variant (nonsense +1 more)	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 1917320	NM_203446.3(SYNJ1):c.*527G>A	SYNJ1 (G1433E +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +2 more	GUncertain significance
Select item 1005279	NM_203446.3(SYNJ1):c.*526G>A	SYNJ1 (G1433R +1 more)	Single nucleotide variant (missense variant +1 more)	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 478357	NM_203446.3(SYNJ1):c.*522G>A	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 1369097	NM_203446.3(SYNJ1):c.*521C>T	SYNJ1 (P1431L +1 more)	Single nucleotide variant (missense variant +1 more)	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 544572	NM_203446.3(SYNJ1):c.*521C>G	SYNJ1 (P1517R +1 more)	Single nucleotide variant (missense variant +1 more)	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 1667815	NM_203446.3(SYNJ1):c.*519C>T	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 1610822	NM_203446.3(SYNJ1):c.*513T>C	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 647401	NM_203446.3(SYNJ1):c.*491A>C	SYNJ1 (Q1507P +1 more)	Single nucleotide variant (missense variant +1 more)	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 966535	NM_203446.3(SYNJ1):c.*485A>T	SYNJ1 (D1505V +1 more)	Single nucleotide variant (missense variant +1 more)	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 1508400	NM_203446.3(SYNJ1):c.*482T>C	SYNJ1 (F1418S +1 more)	Single nucleotide variant (missense variant +1 more)	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 1485656	NM_203446.3(SYNJ1):c.*474G>A	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 947823	NM_203446.3(SYNJ1):c.*469T>C	SYNJ1 (F1414L +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 1078685	NM_203446.3(SYNJ1):c.*459A>G	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2953298	NM_203446.3(SYNJ1):c.*453A>G	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 1390723	NM_203446.3(SYNJ1):c.*449C>A	SYNJ1 (A1407D +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 1147907	NM_203446.3(SYNJ1):c.*443G>A	SYNJ1 (S1405N +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +2 more	GConflicting classifications of pathogenicity
Select item 863007	NM_203446.3(SYNJ1):c.*442A>G	SYNJ1 (S1491G +1 more)	Single nucleotide variant (missense variant +1 more)	Early-onset Parkinson disease 20 +1 more	GUncertain significance

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