8518[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 2579281	GRCh38/hg38 9q31.1-31.3(chr9:102995214-108903040)x1	ABCA1, ACTL7A +109 more	Copy number loss	Weiss-kruszka syndrome	GPathogenic
Select item 145648	GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1	ABCA1, ABITRAM +310 more	Copy number loss	See cases	GPathogenic
Select item 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	PALM2AKAP2, PAPPA +377 more	Copy number loss	See cases	GPathogenic
Select item 913071	NM_003640.5(ELP1):c.*1566A>G	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 913072	NM_003640.5(ELP1):c.*1511T>C	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 364534	NM_003640.5(ELP1):c.*1494A>G	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 913073	NM_003640.5(ELP1):c.*1489G>A	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 913074	NM_003640.5(ELP1):c.*1429C>T	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 913075	NM_003640.5(ELP1):c.*1428G>T	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 913076	NM_003640.5(ELP1):c.*1412T>A	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 914221	NM_003640.5(ELP1):c.*1406A>G	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 364535	NM_003640.5(ELP1):c.*1352A>G	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 364536	NM_003640.5(ELP1):c.*1351C>A	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GBenign
Select item 914222	NM_003640.5(ELP1):c.*1291A>G	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 914223	NM_003640.5(ELP1):c.*1281T>C	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 364537	NM_003640.5(ELP1):c.*1277T>G	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 364538	NM_003640.5(ELP1):c.*1260C>T	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GBenign
Select item 364539	NM_003640.5(ELP1):c.*1259C>G	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GBenign
Select item 364540	NM_003640.5(ELP1):c.*1254C>A	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 364541	NM_003640.5(ELP1):c.*1247T>C	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GLikely benign
Select item 914709	NM_003640.5(ELP1):c.*1240T>C	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 364542	NM_003640.5(ELP1):c.*1214C>T	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 914710	NM_003640.5(ELP1):c.*1196G>T	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 914711	NM_003640.5(ELP1):c.*1194C>T	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 364543	NM_003640.5(ELP1):c.*1191T>G	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 364544	NM_003640.5(ELP1):c.*1124C>T	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 364545	NM_003640.5(ELP1):c.*1071G>A	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GBenign
Select item 364546	NM_003640.5(ELP1):c.*1062G>T	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 912755	NM_003640.5(ELP1):c.*1054T>C	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 912756	NM_003640.5(ELP1):c.*902C>T	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 364547	NM_003640.5(ELP1):c.*861T>G	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GBenign
Select item 912757	NM_003640.5(ELP1):c.*838C>T	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 912758	NM_003640.5(ELP1):c.*806A>C	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 912759	NM_003640.5(ELP1):c.*769T>A	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 913118	NM_003640.5(ELP1):c.*705C>T	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 913119	NM_003640.5(ELP1):c.*636T>C	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 913120	NM_003640.5(ELP1):c.*579A>G	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 913121	NM_003640.5(ELP1):c.*569T>C	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 364548	NM_003640.5(ELP1):c.*502C>T	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 364549	NM_003640.5(ELP1):c.*392A>G	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GBenign
Select item 913122	NM_003640.5(ELP1):c.*344A>G	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 913123	NM_003640.5(ELP1):c.*103A>G	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 914266	NM_003640.5(ELP1):c.*82G>A	ELP1	Single nucleotide variant (3 prime UTR variant)	Familial dysautonomia	GUncertain significance
Select item 656290	NC_000009.12:g.(?_108869105)_(108903679_?)del	ELP1	Deletion	not provided	GLikely pathogenic
Select item 583918	NC_000009.12:g.(?_108869115)_(108901681_?)del	ELP1	Deletion	not provided	GLikely pathogenic
Select item 1079028	NM_003640.5(ELP1):c.3996C>T (p.Asp1332=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1633270	NM_003640.5(ELP1):c.3988C>T (p.Leu1330=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1101316	NM_003640.5(ELP1):c.3987C>T (p.Ser1329=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1145742	NM_003640.5(ELP1):c.3984G>A (p.Leu1328=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168115	NM_003640.5(ELP1):c.3979A>T (p.Lys1327Ter)	ELP1 (K1213* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 555791	NM_003640.5(ELP1):c.3977G>A (p.Trp1326Ter)	ELP1 (W1326* +2 more)	Single nucleotide variant (nonsense)	Medulloblastoma +1 more	GUncertain significance
Select item 1145619	NM_003640.5(ELP1):c.3975G>A (p.Gln1325=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1584893	NM_003640.5(ELP1):c.3972C>G (p.Thr1324=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1054386	NM_003640.5(ELP1):c.3961A>T (p.Asn1321Tyr)	ELP1 (N1207Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1656419	NM_003640.5(ELP1):c.3960C>T (p.Ile1320=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1210425	NM_003640.5(ELP1):c.3956del (p.Lys1319fs)	ELP1 (K1205fs +2 more)	Deletion (frameshift variant)	Familial dysautonomia	GLikely pathogenic
Select item 1992218	NM_003640.5(ELP1):c.3955A>G (p.Lys1319Glu)	ELP1 (K1205E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1469825	NM_003640.5(ELP1):c.3952C>A (p.Pro1318Thr)	ELP1 (P1204T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 764665	NM_003640.5(ELP1):c.3951A>T (p.Pro1317=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 971048	NM_003640.5(ELP1):c.3949C>A (p.Pro1317Thr)	ELP1 (P1317T +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2847805	NM_003640.5(ELP1):c.3945T>C (p.Phe1315=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615996	NM_003640.5(ELP1):c.3943T>C (p.Phe1315Leu)	ELP1 (F1315L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 572319	NM_003640.5(ELP1):c.3937G>A (p.Glu1313Lys)	ELP1 (E1313K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 552299	NM_003640.5(ELP1):c.3937G>T (p.Glu1313Ter)	ELP1 (E1313* +2 more)	Single nucleotide variant (nonsense)	Familial dysautonomia	GUncertain significance
Select item 1544759	NM_003640.5(ELP1):c.3932-4T>C	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1800449	NM_003640.5(ELP1):c.3932-5T>A	ELP1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2064716	NM_003640.5(ELP1):c.3932-7C>G	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1115309	NM_003640.5(ELP1):c.3932-7C>T	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2741272	NM_003640.5(ELP1):c.3932-14T>C	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1562190	NM_003640.5(ELP1):c.3932-18T>G	ELP1	Single nucleotide variant (intron variant)	Medulloblastoma +2 more	GLikely benign
Select item 681916	NM_003640.5(ELP1):c.3932-185G>A	ELP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195829	NM_003640.5(ELP1):c.3932-281C>G	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681954	NM_003640.5(ELP1):c.3931+189G>A	ELP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199429	NM_003640.5(ELP1):c.3931+151A>T	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186820	NM_003640.5(ELP1):c.3931+39A>G	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1630567	NM_003640.5(ELP1):c.3931+20del	ELP1	Deletion (intron variant)	not provided	GLikely benign
Select item 3022190	NM_003640.5(ELP1):c.3931+17A>G	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846567	NM_003640.5(ELP1):c.3931+17A>C	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2072154	NM_003640.5(ELP1):c.3931+16C>T	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 364550	NM_003640.5(ELP1):c.3931+14C>G	ELP1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1079032	NM_003640.5(ELP1):c.3931+8T>C	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1005295	NM_003640.5(ELP1):c.3931+3_3931+6del	ELP1	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 551259	NM_003640.5(ELP1):c.3931+1G>T	ELP1	Single nucleotide variant (splice donor variant)	Familial dysautonomia +2 more	GConflicting classifications of pathogenicity
Select item 526199	NM_003640.5(ELP1):c.3931+1G>A	ELP1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2185732	NM_003640.5(ELP1):c.3928C>G (p.Leu1310Val)	ELP1 (L1310V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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