ClinVar for Gene (Select 2219) - ClinVar

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Links from Gene

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3094154	NM_002003.5(FCN1):c.773C>T (p.Thr258Ile)	FCN1 (T258I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094153	NM_002003.5(FCN1):c.614G>A (p.Arg205His)	FCN1 (R205H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094152	NM_002003.5(FCN1):c.555G>C (p.Glu185Asp)	FCN1 (E185D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094151	NM_002003.5(FCN1):c.369C>A (p.Asp123Glu)	FCN1 (D123E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094149	NM_002003.5(FCN1):c.172G>A (p.Gly58Arg)	FCN1 (G58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3055230	NM_002003.5(FCN1):c.45G>T (p.Leu15=)	FCN1	Single nucleotide variant (synonymous variant)	FCN1-related disorder	GLikely benign
Select item 3054724	NM_002003.5(FCN1):c.478C>A (p.Arg160=)	FCN1	Single nucleotide variant (synonymous variant)	FCN1-related disorder	GLikely benign
Select item 3041982	NM_002003.5(FCN1):c.369C>T (p.Asp123=)	FCN1	Single nucleotide variant (synonymous variant)	FCN1-related disorder	GLikely benign
Select item 2684590	GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3	ABCA2, AGPAT2 +95 more	Copy number gain	not provided	GPathogenic
Select item 2659706	NM_002003.5(FCN1):c.382C>T (p.Leu128=)	FCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659705	NM_002003.5(FCN1):c.771C>T (p.Ser257=)	FCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633917	NM_002003.5(FCN1):c.135C>G (p.Asp45Glu)	FCN1 (D45E)	Single nucleotide variant (missense variant)	FCN1-related disorder	GUncertain significance
Select item 2631895	NM_002003.5(FCN1):c.226G>A (p.Gly76Ser)	FCN1 (G76S)	Single nucleotide variant (missense variant)	FCN1-related disorder	GUncertain significance
Select item 2601652	NM_002003.5(FCN1):c.509G>A (p.Arg170Gln)	FCN1 (R170Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551191	NM_002003.5(FCN1):c.175G>A (p.Ala59Thr)	FCN1 (A59T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544201	NM_002003.5(FCN1):c.712G>C (p.Ala238Pro)	FCN1 (A238P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537095	NM_002003.5(FCN1):c.193G>A (p.Glu65Lys)	FCN1 (E65K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521920	NM_002003.5(FCN1):c.971G>A (p.Arg324Gln)	FCN1 (R324Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518971	NM_002003.5(FCN1):c.607G>A (p.Glu203Lys)	FCN1 (E203K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494064	NM_002003.5(FCN1):c.764T>C (p.Phe255Ser)	FCN1 (F255S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477372	NM_002003.5(FCN1):c.613C>T (p.Arg205Cys)	FCN1 (R205C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456530	NM_002003.5(FCN1):c.514T>C (p.Trp172Arg)	FCN1 (W172R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456335	NM_002003.5(FCN1):c.884G>A (p.Gly295Glu)	FCN1 (G295E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	ENTPD8, INPP5E +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	ABCA2, ABO +100 more	Duplication	Autosomal dominant nocturnal frontal lobe epilepsy 5 +4 more	GUncertain significance
Select item 2363919	NM_002003.5(FCN1):c.599G>A (p.Gly200Glu)	FCN1 (G200E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350644	NM_002003.5(FCN1):c.346C>T (p.Arg116Cys)	FCN1 (R116C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346686	NM_002003.5(FCN1):c.313G>A (p.Ala105Thr)	FCN1 (A105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323353	NM_002003.5(FCN1):c.572A>G (p.Asp191Gly)	FCN1 (D191G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296574	NM_002003.5(FCN1):c.155G>C (p.Gly52Ala)	FCN1 (G52A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275074	NM_002003.5(FCN1):c.239C>G (p.Ala80Gly)	FCN1 (A80G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252631	NM_002003.5(FCN1):c.520G>T (p.Ala174Ser)	FCN1 (A174S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1706489	GRCh37/hg19 9q34.2-34.3(chr9:137397915-138210649)x3	COL5A1, FCN1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1372096	NC_000009.11:g.(?_137534034)_(139440238_?)dup	SEC16A, UBAC1 +29 more	Duplication	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 1266029	NC_000009.12:g.134918413C>T	FCN1	Single nucleotide variant	not provided	GBenign
Select item 1252732	NC_000009.12:g.134918015G>T	FCN1	Single nucleotide variant	not provided	GBenign
Select item 687166	GRCh37/hg19 9q34.3(chr9:137421583-138211368)x3	COL5A1, FCN1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 652388	NC_000009.11:g.(?_134379574)_(138678377_?)dup	GTF3C4, GTF3C5 +55 more	Duplication	Ehlers-Danlos syndrome, classic type	GUncertain significance
Select item 563671	GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3	ABCA2, ABO +130 more	Copy number gain	not provided	GPathogenic
Select item 563657	GRCh37/hg19 9q34.3(chr9:137736478-138563159)x3	LINC02907, OLFM1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 563642	GRCh37/hg19 9q34.3(chr9:137641609-138199640)x3	OLFM1, FCN2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563620	GRCh37/hg19 9q34.3(chr9:137738997-138049974)x3	FCN2, FCN1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 523169	GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1	CAMSAP1, OLFM1 +128 more	Copy number loss	mTOR Inhibitor response	Gdrug response
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +769 more	Copy number gain	See cases	GPathogenic
Select item 402859	NM_002003.5(FCN1):c.802T>C (p.Ser268Pro)	FCN1 (S268P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	UBQLN1, UCK1 +771 more	Copy number gain	See cases	GPathogenic
Select item 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	OR1L8, OR1N1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic
Select item 222970	NM_002003.5(FCN1):c.454G>A (p.Gly152Arg)	FCN1 (G152R)	Single nucleotide variant (missense variant)	Monoclonal B-Cell Lymphocytosis	GUncertain significance
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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	LOC130002964, LOC130002965 +417 more	Copy number gain	See cases	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC110121282, LOC111365185 +530 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 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	ABCA2, AGPAT2 +405 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 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	ABCA2, ADAMTSL2 +439 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	BRD3, BRD3OS +510 more	Copy number gain	See cases	GPathogenic
Select item 147417	GRCh38/hg38 9q34.2-34.3(chr9:134492275-135456038)x3	COL5A1, COL5A1-AS1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +1272 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	LOC130002885, LOC130002886 +789 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 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	ABCA2, ABL1 +656 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	LOC130003068, LOC130003069 +392 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	PAEP, PIERCE1 +536 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 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	ABCA2, AGPAT2 +371 more	Copy number loss	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003109, LOC130003110 +1210 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 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

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Links from Gene

Items: 79