FMO2[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 3095885	NM_001460.5(FMO2):c.57G>T (p.Lys19Asn)	FMO2 (K19N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2639550	NM_001460.5(FMO2):c.135G>A (p.Glu45=)	FMO2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3095884	NM_001460.5(FMO2):c.142G>A (p.Glu48Lys)	FMO2 (E48K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3279349	NM_001460.5(FMO2):c.152G>A (p.Arg51Gln)	FMO2 (R51Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 402870	NM_001460.5(FMO2):c.337del (p.Ser112_Val113insTer)	FMO2	Deletion (5 prime UTR variant +2 more)	not specified	GBenign
Select item 724168	NM_001460.5(FMO2):c.396C>T (p.Asn132=)	FMO2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2265705	NM_001460.5(FMO2):c.397G>A (p.Gly133Ser)	FMO2 (G133S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2229970	NM_001460.5(FMO2):c.401A>T (p.Lys134Met)	FMO2 (K134M +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3279350	NM_001460.5(FMO2):c.479T>C (p.Phe160Ser)	FMO2 (F160S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 774280	NM_001460.5(FMO2):c.497T>C (p.Phe166Ser)	FMO2 (F101S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3279348	NM_001460.5(FMO2):c.517A>G (p.Ser173Gly)	FMO2 (S108G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 709846	NM_001460.5(FMO2):c.521G>A (p.Arg174His)	FMO2 (R174H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2321360	NM_001460.5(FMO2):c.571G>A (p.Gly191Arg)	FMO2 (G126R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216903	NM_001460.5(FMO2):c.629T>C (p.Val210Ala)	FMO2 (V145A +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2561454	NM_001460.5(FMO2):c.719G>A (p.Arg240His)	FMO2 (R175H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521467	NM_001460.5(FMO2):c.724A>G (p.Met242Val)	FMO2 (M22V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095886	NM_001460.5(FMO2):c.737T>C (p.Val246Ala)	FMO2 (V181A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327285	NM_001460.5(FMO2):c.848T>A (p.Val283Glu)	FMO2 (V283E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095887	NM_001460.5(FMO2):c.872G>C (p.Arg291Pro)	FMO2 (R71P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095888	NM_001460.5(FMO2):c.910A>G (p.Lys304Glu)	FMO2 (K239E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095889	NM_001460.5(FMO2):c.967G>A (p.Asp323Asn)	FMO2 (D103N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095890	NM_001460.5(FMO2):c.981T>G (p.Phe327Leu)	FMO2 (F107L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279347	NM_001460.5(FMO2):c.998T>G (p.Phe333Cys)	FMO2 (F333C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478127	NM_001460.5(FMO2):c.1012C>T (p.Leu338Phe)	FMO2 (L338F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095878	NM_001460.5(FMO2):c.1045A>G (p.Met349Val)	FMO2 (M129V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095879	NM_001460.5(FMO2):c.1099G>A (p.Ala367Thr)	FMO2 (A147T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095880	NM_001460.5(FMO2):c.1100C>T (p.Ala367Val)	FMO2 (A367V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095881	NM_001460.5(FMO2):c.1127G>A (p.Gly376Asp)	FMO2 (G156D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095882	NM_001460.5(FMO2):c.1148A>G (p.Glu383Gly)	FMO2 (E318G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236479	NM_001460.5(FMO2):c.1175T>G (p.Val392Gly)	FMO2 (V392G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715792	NM_001460.5(FMO2):c.1204G>A (p.Glu402Lys)	FMO2 (E182K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2616996	NM_001460.5(FMO2):c.1226T>C (p.Ile409Thr)	FMO2 (I344T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266885	NM_001460.5(FMO2):c.1250T>A (p.Ile417Asn)	FMO2 (I197N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474908	NM_001460.5(FMO2):c.1260T>A (p.Phe420Leu)	FMO2 (F355L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225130	NM_001460.5(FMO2):c.1315C>T (p.Leu439Phe)	FMO2 (L439F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326716	NM_001460.5(FMO2):c.1318G>A (p.Ala440Thr)	FMO2 (A220T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095883	NM_001460.5(FMO2):c.1355T>C (p.Leu452Pro)	FMO2 (L452P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518285	NM_001460.5(FMO2):c.1381G>A (p.Val461Met)	FMO2 (V241M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769222	NM_001460.5(FMO2):c.1414C>T (p.Gln472Ter)	FMO2 (Q407* +2 more)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 769543	NM_001460.5(FMO2):c.1476A>G (p.Lys492=)	FMO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 767726	NM_001460.5(FMO2):c.1588dup (p.Cys530fs)	FMO2 (C310fs +2 more)	Duplication (frameshift variant)	not provided	GBenign
Select item 3242279	GRCh37/hg19 1q24.2-25.1(chr1:170777501-173113232)x1	C1orf105, DNM3 +17 more	Copy number loss	not provided	GLikely pathogenic
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1527359	GRCh37/hg19 1q24.2-24.3(chr1:167391422-171843613)	ADCY10, ATP1B1 +39 more	Copy number loss	not specified	GPathogenic
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814140	GRCh37/hg19 1q24.3(chr1:171048831-171338651)x1	FMO4, FMO2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 814137	GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1	METTL13, METTL18 +60 more	Copy number loss	not provided	GPathogenic
Select item 686750	GRCh37/hg19 1q24.2-24.3(chr1:170862952-171480090)x3	FMO1, FMO2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic
Select item 558766	Single allele	ANKRD45, ATP1B1 +51 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic

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Items: 68