ClinVar for Gene (Select 84929) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 102

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278865	NM_032843.5(FIBCD1):c.88T>C (p.Tyr30His)	FIBCD1 (Y30H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278864	NM_032843.5(FIBCD1):c.928A>G (p.Thr310Ala)	FIBCD1 (T310A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278863	NM_032843.5(FIBCD1):c.476T>C (p.Met159Thr)	FIBCD1 (M159T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278862	NM_032843.5(FIBCD1):c.331G>A (p.Ala111Thr)	FIBCD1 (A111T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278861	NM_032843.5(FIBCD1):c.527A>G (p.Gln176Arg)	FIBCD1 (Q176R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278860	NM_032843.5(FIBCD1):c.429G>C (p.Gln143His)	FIBCD1 (Q143H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245343	NC_000009.11:g.(?_133540041)_(133884994_?)dup	ABL1, EXOSC2 +4 more	Duplication	not provided	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3245116	NC_000009.11:g.(?_131346980)_(135942612_?)dup	BARHL1, C9orf50 +62 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3095180	NM_032843.5(FIBCD1):c.888C>G (p.Phe296Leu)	FIBCD1 (F296L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095179	NM_032843.5(FIBCD1):c.869A>G (p.Asp290Gly)	FIBCD1 (D290G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095178	NM_032843.5(FIBCD1):c.802G>A (p.Gly268Ser)	FIBCD1 (G268S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095177	NM_032843.5(FIBCD1):c.791A>G (p.His264Arg)	FIBCD1 (H264R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095175	NM_032843.5(FIBCD1):c.74G>A (p.Arg25Gln)	FIBCD1 (R25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095174	NM_032843.5(FIBCD1):c.73C>T (p.Arg25Trp)	FIBCD1 (R25W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095173	NM_032843.5(FIBCD1):c.704G>A (p.Cys235Tyr)	FIBCD1 (C235Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095172	NM_032843.5(FIBCD1):c.700G>C (p.Gly234Arg)	FIBCD1 (G234R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095171	NM_032843.5(FIBCD1):c.698G>A (p.Arg233Gln)	FIBCD1 (R233Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095170	NM_032843.5(FIBCD1):c.602G>T (p.Ser201Ile)	FIBCD1 (S201I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095168	NM_032843.5(FIBCD1):c.415A>C (p.Thr139Pro)	FIBCD1 (T139P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095167	NM_032843.5(FIBCD1):c.320G>C (p.Arg107Pro)	FIBCD1 (R107P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095165	NM_032843.5(FIBCD1):c.253G>A (p.Ala85Thr)	FIBCD1 (A85T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095164	NM_032843.5(FIBCD1):c.202G>A (p.Val68Ile)	FIBCD1 (V68I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095163	NM_032843.5(FIBCD1):c.145G>A (p.Gly49Ser)	FIBCD1 (G49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095162	NM_032843.5(FIBCD1):c.13C>G (p.Arg5Gly)	FIBCD1 (R5G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063094	GRCh37/hg19 9q34.11-34.13(chr9:131815597-134209182)x1	ABL1, AIF1L +29 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2685365	GRCh37/hg19 9q34.11-34.12(chr9:132590008-133880465)x1	ABL1, ASS1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 2659619	NM_032843.5(FIBCD1):c.138T>C (p.Ala46=)	FIBCD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659618	NM_032843.5(FIBCD1):c.712+3G>A	FIBCD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2659617	NM_032843.5(FIBCD1):c.831G>A (p.Thr277=)	FIBCD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2592484	NM_032843.5(FIBCD1):c.1129G>C (p.Asp377His)	FIBCD1 (D377H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566651	NM_032843.5(FIBCD1):c.320G>T (p.Arg107Leu)	FIBCD1 (R107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532094	NM_032843.5(FIBCD1):c.286C>A (p.Pro96Thr)	FIBCD1 (P96T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507811	NM_032843.5(FIBCD1):c.1129G>A (p.Asp377Asn)	FIBCD1 (D377N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2505219	NM_032843.5(FIBCD1):c.644G>A (p.Arg215Gln)	FIBCD1 (R215Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2495724	NM_032843.5(FIBCD1):c.416C>T (p.Thr139Met)	FIBCD1 (T139M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472159	NM_032843.5(FIBCD1):c.307G>A (p.Asp103Asn)	FIBCD1 (D103N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468024	NM_032843.5(FIBCD1):c.113C>T (p.Ala38Val)	FIBCD1 (A38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466804	NM_032843.5(FIBCD1):c.868G>A (p.Asp290Asn)	FIBCD1 (D290N)	Single nucleotide variant (missense variant)	not specified	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 2425935	NC_000009.11:g.(?_131857676)_(135942612_?)dup	ABL1, AIF1L +45 more	Duplication	not provided	GUncertain significance
Select item 2407511	NM_032843.5(FIBCD1):c.326A>T (p.Glu109Val)	FIBCD1 (E109V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396996	NM_032843.5(FIBCD1):c.1051G>A (p.Gly351Ser)	FIBCD1 (G351S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396125	NM_032843.5(FIBCD1):c.1025C>T (p.Thr342Met)	FIBCD1 (T342M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382955	NM_032843.5(FIBCD1):c.710C>A (p.Thr237Asn)	FIBCD1 (T237N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2380705	NM_032843.5(FIBCD1):c.836G>A (p.Gly279Asp)	FIBCD1 (G279D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371608	NM_032843.5(FIBCD1):c.1274G>A (p.Arg425His)	FIBCD1 (R425H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369450	NM_032843.5(FIBCD1):c.1150G>A (p.Gly384Ser)	FIBCD1 (G384S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364867	NM_032843.5(FIBCD1):c.676C>A (p.Pro226Thr)	FIBCD1 (P226T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2363664	NM_032843.5(FIBCD1):c.364C>T (p.His122Tyr)	FIBCD1 (H122Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356535	NM_032843.5(FIBCD1):c.598G>A (p.Val200Ile)	FIBCD1 (V200I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356014	NM_032843.5(FIBCD1):c.103G>A (p.Val35Met)	FIBCD1 (V35M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352966	NM_032843.5(FIBCD1):c.188C>T (p.Ala63Val)	FIBCD1 (A63V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349391	NM_032843.5(FIBCD1):c.1219G>A (p.Gly407Ser)	FIBCD1 (G407S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343928	NM_032843.5(FIBCD1):c.10G>A (p.Asp4Asn)	FIBCD1 (D4N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328201	NM_032843.5(FIBCD1):c.1072G>C (p.Asp358His)	FIBCD1 (D358H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319409	NM_032843.5(FIBCD1):c.232G>A (p.Ala78Thr)	FIBCD1 (A78T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306152	NM_032843.5(FIBCD1):c.235C>G (p.Leu79Val)	FIBCD1 (L79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292195	NM_032843.5(FIBCD1):c.1102G>A (p.Val368Met)	FIBCD1 (V368M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278973	NM_032843.5(FIBCD1):c.335A>G (p.Gln112Arg)	FIBCD1 (Q112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274797	NM_032843.5(FIBCD1):c.437G>A (p.Arg146Gln)	FIBCD1 (R146Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266088	NM_032843.5(FIBCD1):c.1370T>G (p.Val457Gly)	FIBCD1 (V457G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248451	NM_032843.5(FIBCD1):c.1297G>A (p.Asp433Asn)	FIBCD1 (D433N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238754	NM_032843.5(FIBCD1):c.1105G>A (p.Ala369Thr)	FIBCD1 (A369T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230209	NM_032843.5(FIBCD1):c.1037G>A (p.Arg346His)	FIBCD1 (R346H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2219252	NM_032843.5(FIBCD1):c.41A>G (p.Gln14Arg)	FIBCD1 (Q14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206843	NM_032843.5(FIBCD1):c.863G>A (p.Arg288Gln)	FIBCD1 (R288Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205993	NM_032843.5(FIBCD1):c.589G>C (p.Val197Leu)	FIBCD1 (V197L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1288850	NM_032843.5(FIBCD1):c.*3T>C	FIBCD1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1237806	NM_032843.5(FIBCD1):c.1127-20C>T	FIBCD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 830950	NC_000009.12:g.(?_130664644)_(131523116_?)dup	ABL1, AIF1L +10 more	Duplication	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GUncertain significance
Select item 688817	GRCh37/hg19 9q34.11-34.12(chr9:133276056-133851405)x1	ABL1, ASS1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 625553	GRCh37/hg19 9q34.11-34.13(chr9:131670024-134514071)	ABL1, AIF1L +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ISCA1, MIR32 +555 more	Copy number gain	Global developmental delay +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 395388	GRCh37/hg19 9q34.12(chr9:133814416-133931680)x3	FIBCD1, LAMC3	Copy number gain	See cases	GLikely benign
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 395302	GRCh37/hg19 9q34.12(chr9:133814416-133931621)x3	FIBCD1, LAMC3	Copy number gain	See cases	GBenign/Likely benign
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +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 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 148707	GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)x3	ABL1, ASB6 +179 more	Copy number gain	See cases	GUncertain significance
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59135	GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1	LOC130002822, LOC130002823 +160 more	Copy number loss	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2