FGD3[gene] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 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 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 2291282	NM_001083536.2(FGD3):c.17G>T (p.Gly6Val)	FGD3 (G6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624176	NM_001083536.2(FGD3):c.77G>A (p.Ser26Asn)	FGD3 (S26N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323254	NM_001083536.2(FGD3):c.235G>A (p.Asp79Asn)	FGD3 (D79N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590851	NM_001083536.2(FGD3):c.328G>A (p.Glu110Lys)	FGD3 (E110K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094623	NM_001083536.2(FGD3):c.380A>C (p.Asp127Ala)	FGD3 (D127A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513369	NM_001083536.2(FGD3):c.418C>A (p.Pro140Thr)	FGD3 (P140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094624	NM_001083536.2(FGD3):c.440C>G (p.Ala147Gly)	FGD3 (A147G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358159	NM_001083536.2(FGD3):c.446T>C (p.Leu149Pro)	FGD3 (L149P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094626	NM_001083536.2(FGD3):c.454C>T (p.His152Tyr)	FGD3 (H152Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511185	NM_001083536.2(FGD3):c.554C>T (p.Thr185Ile)	FGD3, LOC124310587 (T185I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269904	NM_001083536.2(FGD3):c.571G>C (p.Gly191Arg)	FGD3, LOC124310587 (G191R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266730	NM_001083536.2(FGD3):c.695G>A (p.Arg232Gln)	FGD3 (R232Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611498	NM_001083536.2(FGD3):c.710T>G (p.Leu237Arg)	FGD3 (L237R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336391	NM_001083536.2(FGD3):c.740A>G (p.Tyr247Cys)	FGD3 (Y247C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390866	NM_001083536.2(FGD3):c.742G>C (p.Gly248Arg)	FGD3 (G248R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466837	NM_001083536.2(FGD3):c.794C>T (p.Thr265Ile)	FGD3 (T265I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094627	NM_001083536.2(FGD3):c.796C>G (p.Gln266Glu)	FGD3 (Q266E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311898	NM_001083536.2(FGD3):c.831C>A (p.Ser277Arg)	FGD3 (S277R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278588	NM_001083536.2(FGD3):c.847G>T (p.Val283Leu)	FGD3, LOC101927954 (V283L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2355409	NM_001083536.2(FGD3):c.857A>G (p.Asn286Ser)	FGD3, LOC101927954 (N286S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2232590	NM_001083536.2(FGD3):c.863C>T (p.Thr288Met)	FGD3, LOC101927954 (T288M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094628	NM_001083536.2(FGD3):c.925G>T (p.Asp309Tyr)	FGD3, LOC101927954 (D309Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094629	NM_001083536.2(FGD3):c.928T>C (p.Tyr310His)	FGD3, LOC101927954 (Y310H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2261331	NM_001083536.2(FGD3):c.962G>A (p.Arg321Gln)	FGD3, LOC101927954 (R321Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094630	NM_001083536.2(FGD3):c.985G>A (p.Glu329Lys)	FGD3, LOC101927954 (E329K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224263	NM_001083536.2(FGD3):c.992T>C (p.Ile331Thr)	FGD3, LOC101927954 (I331T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786911	NM_001083536.2(FGD3):c.1008C>T (p.Asn336=)	FGD3, LOC101927954	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3094615	NM_001083536.2(FGD3):c.1024A>G (p.Ile342Val)	FGD3, LOC101927954 (I342V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517427	NM_001083536.2(FGD3):c.1087G>A (p.Asp363Asn)	FGD3, LOC101927954 (D363N)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2345046	NM_001083536.2(FGD3):c.1156A>T (p.Thr386Ser)	FGD3, LOC101927954 (T386S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3094616	NM_001083536.2(FGD3):c.1159C>T (p.Pro387Ser)	FGD3, LOC101927954 (P387S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2306026	NM_001083536.2(FGD3):c.1169G>A (p.Arg390His)	FGD3, LOC101927954 (R390H)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2512938	NM_001083536.2(FGD3):c.1288G>A (p.Val430Ile)	FGD3 (V381I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218450	NM_001083536.2(FGD3):c.1322C>T (p.Thr441Ile)	FGD3 (T392I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094618	NM_001083536.2(FGD3):c.1336T>A (p.Ser446Thr)	FGD3 (S397T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266795	NM_001083536.2(FGD3):c.1471C>T (p.Pro491Ser)	FGD3 (P442S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393050	NM_001083536.2(FGD3):c.1496T>C (p.Ile499Thr)	FGD3 (I450T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590749	NM_001083536.2(FGD3):c.1499C>T (p.Thr500Met)	FGD3 (T500M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278591	NM_001083536.2(FGD3):c.1544C>G (p.Ser515Trp)	FGD3 (S466W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309197	NM_001083536.2(FGD3):c.1819C>T (p.Leu607Phe)	FGD3 (L606F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2352018	NM_001083536.2(FGD3):c.1834C>T (p.Arg612Trp)	FGD3 (R611W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612880	NM_001083536.2(FGD3):c.1835G>A (p.Arg612Gln)	FGD3 (R563Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094619	NM_001083536.2(FGD3):c.1864G>A (p.Glu622Lys)	FGD3 (E621K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786912	NM_001083536.2(FGD3):c.1869G>T (p.Val623=)	FGD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3094620	NM_001083536.2(FGD3):c.1889C>T (p.Ser630Leu)	FGD3 (S629L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346436	NM_001083536.2(FGD3):c.1906C>T (p.His636Tyr)	FGD3 (H636Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491442	NM_001083536.2(FGD3):c.1934G>A (p.Arg645Gln)	FGD3 (R644Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094622	NM_001083536.2(FGD3):c.2032A>G (p.Lys678Glu)	FGD3 (K629E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476326	NM_001083536.2(FGD3):c.2054C>T (p.Ala685Val)	FGD3 (A636V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278590	NM_001083536.2(FGD3):c.2113G>T (p.Asp705Tyr)	FGD3 (D705Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395420	NM_001083536.2(FGD3):c.2117C>T (p.Thr706Met)	FGD3 (T705M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659307	NM_001083536.2(FGD3):c.2118G>A (p.Thr706=)	FGD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 1808833	GRCh37/hg19 9q22.31-22.32(chr9:95711603-98469214)x1	AOPEP, BARX1 +22 more	Copy number loss	not provided	GPathogenic
Select item 1807869	GRCh37/hg19 9q22.31(chr9:95649997-95850428)x3	FGD3, SUSD3	Copy number gain	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1341973	GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1	ALDOB, ALG2 +87 more	Copy number loss	Gorlin syndrome	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 687608	GRCh37/hg19 9q22.31(chr9:95258118-95888821)x1	BICD2, CARD19 +7 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 625637	GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274)	AGTPBP1, ASPN +79 more	Copy number gain	not provided	GPathogenic
Select item 563667	GRCh37/hg19 9q22.31(chr9:94907633-96493970)x1	ASPN, BICD2 +17 more	Copy number loss	not provided	GUncertain significance
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +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 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 85