8867[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1440

<< First< Prev

Page of 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	KCNJ6, KCNJ6-AS1 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 1684637	Single allele	ATP5PO, C21orf62 +107 more	Deletion	ZTTK syndrome	GPathogenic
Select item 59002	GRCh38/hg38 21q22.11(chr21:32597585-32718929)x3	CFAP298, CFAP298-TCP10L +4 more	Copy number gain	See cases	GUncertain significance
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)	Developmental and epileptic encephalopathy, 53 +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)	Developmental and epileptic encephalopathy, 53 +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)	not provided +2 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 +2 more	GUncertain significance
Select item 1924239	NM_203446.3(SYNJ1):c.*783A>G	SYNJ1	Single nucleotide variant (3 prime UTR 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)	Early-onset Parkinson disease 20 +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)	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 1160648	NM_203446.3(SYNJ1):c.*753T>C	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 2937749	NM_203446.3(SYNJ1):c.*750A>G	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +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)	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 1094900	NM_203446.3(SYNJ1):c.*741C>T	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Early-onset Parkinson disease 20 +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)	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 544588	NM_203446.3(SYNJ1):c.*738C>T	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Early-onset Parkinson disease 20 +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)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 783108	NM_203446.3(SYNJ1):c.*732C>T	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +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)	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 1097087	NM_203446.3(SYNJ1):c.*729G>A	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Early-onset Parkinson disease 20 +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)	not provided +3 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)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 1550220	NM_203446.3(SYNJ1):c.*720T>C	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Early-onset Parkinson disease 20 +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)	Early-onset Parkinson disease 20 +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)	Developmental and epileptic encephalopathy, 53 +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)	Early-onset Parkinson disease 20 +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)	Early-onset Parkinson disease 20 +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)	Early-onset Parkinson disease 20 +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)	Developmental and epileptic encephalopathy, 53 +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)	Early-onset Parkinson disease 20 +2 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)	Early-onset Parkinson disease 20 +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)	Developmental and epileptic encephalopathy, 53 +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)	Early-onset Parkinson disease 20 +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)	Developmental and epileptic encephalopathy, 53 +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)	Early-onset Parkinson disease 20 +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 3172796	NM_203446.3(SYNJ1):c.*605A>G	SYNJ1 (N1459S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1943511	NM_203446.3(SYNJ1):c.*604A>C	SYNJ1 (N1459H +1 more)	Single nucleotide variant (missense variant +1 more)	Early-onset Parkinson disease 20 +1 more	GUncertain significance

<< First< Prev

Page of 15