ClinVar for Gene (Select 2326) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3279346	NM_001282693.2(FMO1):c.640A>G (p.Thr214Ala)	FMO1 (T214A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279345	NM_001282693.2(FMO1):c.31G>C (p.Gly11Arg)	FMO1 (G11R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3095877	NM_001282693.2(FMO1):c.688C>A (p.Pro230Thr)	FMO1 (P234T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095876	NM_001282693.2(FMO1):c.520C>T (p.Arg174Trp)	FMO1 (R111W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095875	NM_001282693.2(FMO1):c.494C>T (p.Ala165Val)	FMO1 (A165V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095874	NM_001282693.2(FMO1):c.1481G>A (p.Arg494Gln)	FMO1 (R494Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095873	NM_001282693.2(FMO1):c.1160G>C (p.Arg387Pro)	FMO1 (R324P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2639551	NM_001282693.2(FMO1):c.660G>A (p.Val220=)	FMO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2606523	NM_001282693.2(FMO1):c.674T>C (p.Phe225Ser)	FMO1 (F229S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605676	NM_001282693.2(FMO1):c.19A>G (p.Ile7Val)	FMO1 (I7V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591528	NM_001282693.2(FMO1):c.208T>C (p.Ser70Pro)	FMO1 (S70P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568830	NM_001282693.2(FMO1):c.122G>C (p.Trp41Ser)	FMO1 (W41S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552345	NM_001282693.2(FMO1):c.1354A>G (p.Met452Val)	FMO1 (M389V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550447	NM_001282693.2(FMO1):c.67G>A (p.Glu23Lys)	FMO1 (E23K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549846	NM_001282693.2(FMO1):c.1382T>C (p.Leu461Pro)	FMO1 (L465P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547000	NM_001282693.2(FMO1):c.140T>C (p.Val47Ala)	FMO1 (V51A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530608	NM_001282693.2(FMO1):c.1221G>C (p.Glu407Asp)	FMO1 (E344D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522807	NM_001282693.2(FMO1):c.11G>A (p.Arg4Gln)	FMO1 (R4Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517792	NM_001282693.2(FMO1):c.1325A>G (p.Tyr442Cys)	FMO1 (Y379C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512029	NM_001282693.2(FMO1):c.1420C>T (p.Arg474Cys)	FMO1 (R411C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491939	NM_001282693.2(FMO1):c.5C>T (p.Ala2Val)	FMO1 (A6V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460556	NM_001282693.2(FMO1):c.779T>C (p.Ile260Thr)	FMO1 (I264T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399214	NM_001282693.2(FMO1):c.145G>A (p.Glu49Lys)	FMO1 (E49K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356476	NM_001282693.2(FMO1):c.521G>A (p.Arg174Gln)	FMO1 (R178Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348292	NM_001282693.2(FMO1):c.1058A>G (p.Tyr353Cys)	FMO1 (Y290C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326643	NM_001282693.2(FMO1):c.1297A>T (p.Ile433Phe)	FMO1 (I433F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293100	NM_001282693.2(FMO1):c.455A>G (p.Asn152Ser)	FMO1 (N152S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285296	NM_001282693.2(FMO1):c.1559T>G (p.Phe520Cys)	FMO1 (F524C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281665	NM_001282693.2(FMO1):c.160C>A (p.Leu54Ile)	FMO1 (L58I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216901	NM_001282693.2(FMO1):c.378G>T (p.Glu126Asp)	FMO1 (E63D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209917	NM_001282693.2(FMO1):c.516T>A (p.His172Gln)	FMO1 (H109Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809459	GRCh37/hg19 1q24.3(chr1:171186446-171907499)x3	DNM3, FMO1 +5 more	Copy number gain	not provided	GUncertain significance
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 782398	NM_001282693.2(FMO1):c.1118A>G (p.Lys373Arg)	FMO1 (K310R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782397	NM_001282693.2(FMO1):c.979T>C (p.Phe327Leu)	FMO1 (F331L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782396	NM_001282693.2(FMO1):c.485-10T>C	FMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 745939	NM_001282693.2(FMO1):c.1078C>T (p.His360Tyr)	FMO1 (H360Y +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 730390	NM_001282693.2(FMO1):c.752T>C (p.Ile251Thr)	FMO1 (I251T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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
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 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	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 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 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 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	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 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	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 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 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

ClinVar

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Links from Gene

Items: 64