ClinVar for Gene (Select 257019) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3279864	NM_174938.6(FRMD3):c.592C>T (p.Leu198Phe)	FRMD3 (L198F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279862	NM_174938.6(FRMD3):c.1232C>T (p.Pro411Leu)	FRMD3, FRMD3-AS1 (P217L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096890	NM_174938.6(FRMD3):c.911A>G (p.Asn304Ser)	FRMD3 (N110S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096889	NM_174938.6(FRMD3):c.517A>T (p.Ile173Phe)	FRMD3 (I129F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096888	NM_174938.6(FRMD3):c.503A>G (p.His168Arg)	FRMD3 (H124R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096887	NM_174938.6(FRMD3):c.341A>G (p.His114Arg)	FRMD3 (H114R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096886	NM_174938.6(FRMD3):c.1537G>A (p.Asp513Asn)	FRMD3, FRMD3-AS1 (D513N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096885	NM_174938.6(FRMD3):c.1037C>T (p.Ser346Phe)	FRMD3 (S152F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067459	NM_174938.6(FRMD3):c.516C>T (p.Tyr172=)	FRMD3	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 2541758	NM_174938.6(FRMD3):c.487T>G (p.Tyr163Asp)	FRMD3 (Y119D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537760	NM_174938.6(FRMD3):c.1672T>C (p.Phe558Leu)	FRMD3, FRMD3-AS1 (F215L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529087	NM_174938.6(FRMD3):c.1309G>A (p.Glu437Lys)	FRMD3, FRMD3-AS1 (E94K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524297	NM_174938.6(FRMD3):c.1174G>A (p.Glu392Lys)	FRMD3 (E198K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510842	NM_174938.6(FRMD3):c.824G>A (p.Gly275Asp)	FRMD3 (G231D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492679	NM_174938.6(FRMD3):c.1363C>T (p.Pro455Ser)	FRMD3, FRMD3-AS1 (P261S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485015	NM_174938.6(FRMD3):c.853G>A (p.Ala285Thr)	FRMD3 (A241T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381341	NM_174938.6(FRMD3):c.11C>T (p.Ser4Phe)	FRMD3 (S4F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320531	NM_174938.6(FRMD3):c.418C>T (p.Arg140Cys)	FRMD3 (R140C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315759	NM_174938.6(FRMD3):c.137G>C (p.Cys46Ser)	FRMD3 (C46S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303257	NM_174938.6(FRMD3):c.213C>A (p.Asp71Glu)	FRMD3 (D27E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290157	NM_174938.6(FRMD3):c.1474G>A (p.Ala492Thr)	FRMD3, FRMD3-AS1 (A149T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285820	NM_174938.6(FRMD3):c.572T>G (p.Val191Gly)	FRMD3 (V191G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253300	NM_174938.6(FRMD3):c.1430G>A (p.Arg477Lys)	FRMD3, FRMD3-AS1 (R134K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245067	NM_174938.6(FRMD3):c.251G>C (p.Arg84Thr)	FRMD3 (R40T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241433	NM_174938.6(FRMD3):c.1027G>C (p.Glu343Gln)	FRMD3 (E299Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237624	NM_174938.6(FRMD3):c.1748T>C (p.Val583Ala)	FRMD3, FRMD3-AS1 (V240A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237273	NM_174938.6(FRMD3):c.755G>C (p.Arg252Thr)	FRMD3 (R208T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221877	NM_174938.6(FRMD3):c.109C>T (p.Arg37Trp)	FRMD3 (R37W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220646	NM_174938.6(FRMD3):c.1078A>G (p.Ile360Val)	FRMD3 (I316V +2 more)	Single nucleotide variant (missense variant)	not specified	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 1527530	GRCh37/hg19 9q21.32(chr9:85704023-86455979)	FRMD3, GKAP1 +3 more	Copy number loss	not specified	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 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
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 617751	Single allele	APBA1, APTX +185 more	Complex	Glioma	GLikely pathogenic
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 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	ABHD17B, ACER2 +274 more	Copy number gain	See cases	GPathogenic
Select item 441750	GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4	ABHD17B, AGTPBP1 +74 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
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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 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 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 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 148901	GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1	LOC130001938, LOC130001939 +263 more	Copy number loss	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 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +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

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Links from Gene

Items: 59