Related gene-specific medical variations for Gene (Select 126805916) - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3516259	NM_001002294.3(FMO3):c.551G>T (p.Gly184Val)	FMO3, LOC126805916 (G121V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3366396	NM_001002294.3(FMO3):c.419T>C (p.Phe140Ser)	FMO3, LOC126805916 (F120S +2 more)	Single nucleotide variant (missense variant)	Trimethylaminuria	GLikely pathogenic
Select item 3339302	NM_001002294.3(FMO3):c.557G>A (p.Arg186His)	FMO3, LOC126805916 (R123H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279354	NM_001002294.3(FMO3):c.432G>T (p.Met144Ile)	FMO3, LOC126805916 (M144I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251860	NM_001002294.3(FMO3):c.596T>C (p.Ile199Thr)	FMO3, LOC126805916 (I136T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251858	NM_001002294.3(FMO3):c.571G>T (p.Gly191Cys)	FMO3, LOC126805916 (G128C +2 more)	Single nucleotide variant (missense variant)	Trimethylaminuria	GLikely pathogenic
Select item 3220931	NM_001002294.3(FMO3):c.601A>C (p.Thr201Pro)	FMO3, LOC126805916 (T138P +2 more)	Single nucleotide variant (missense variant)	Trimethylaminuria	GLikely benign
Select item 3095894	NM_001002294.3(FMO3):c.560T>G (p.Val187Gly)	FMO3, LOC126805916 (V124G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3021352	NM_001002294.3(FMO3):c.627+9C>T	FMO3, LOC126805916	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993513	NM_001002294.3(FMO3):c.406G>T (p.Glu136Ter)	FMO3, LOC126805916 (E73* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2914874	NM_001002294.3(FMO3):c.391del (p.Arg131fs)	FMO3, LOC126805916 (R131fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2889342	NM_001002294.3(FMO3):c.360A>C (p.Ala120=)	FMO3, LOC126805916	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883871	NM_001002294.3(FMO3):c.393G>A (p.Arg131=)	FMO3, LOC126805916	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841690	NM_001002294.3(FMO3):c.484+1G>A	FMO3, LOC126805916	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2841104	NM_001002294.3(FMO3):c.567G>A (p.Val189=)	FMO3, LOC126805916	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840296	NM_001002294.3(FMO3):c.488_489del (p.Leu163fs)	FMO3, LOC126805916 (L100fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2840121	NM_001002294.3(FMO3):c.537A>G (p.Pro179=)	FMO3, LOC126805916	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832491	NM_001002294.3(FMO3):c.411G>A (p.Ser137=)	FMO3, LOC126805916	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822929	NM_001002294.3(FMO3):c.559del (p.Val187fs)	FMO3, LOC126805916 (V124fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2817596	NM_001002294.3(FMO3):c.627+20C>T	FMO3, LOC126805916	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816242	NM_001002294.3(FMO3):c.485-19T>C	FMO3, LOC126805916	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2815398	NM_001002294.3(FMO3):c.627+15G>A	FMO3, LOC126805916	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814531	NM_001002294.3(FMO3):c.627+12C>T	FMO3, LOC126805916	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2754796	NM_001002294.3(FMO3):c.468A>C (p.Pro156=)	FMO3, LOC126805916	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2751924	NM_001002294.3(FMO3):c.484+2T>G	FMO3, LOC126805916	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2746410	NM_001002294.3(FMO3):c.584C>A (p.Ser195Ter)	FMO3, LOC126805916 (S195* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2730429	NM_001002294.3(FMO3):c.444A>T (p.Gly148=)	FMO3, LOC126805916	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713965	NM_001002294.3(FMO3):c.627+11C>T	FMO3, LOC126805916	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2706870	NM_001002294.3(FMO3):c.369C>T (p.Gly123=)	FMO3, LOC126805916	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706869	NM_001002294.3(FMO3):c.358_368del (p.Ala120fs)	FMO3, LOC126805916 (A57fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2702005	NM_001002294.3(FMO3):c.530_531dup (p.Glu178fs)	FMO3, LOC126805916 (E115fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2701768	NM_001002294.3(FMO3):c.627+10C>T	FMO3, LOC126805916	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2699670	NM_001002294.3(FMO3):c.519C>T (p.Ser173=)	FMO3, LOC126805916	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2694513	NM_001002294.3(FMO3):c.625C>T (p.Gln209Ter)	FMO3, LOC126805916 (Q146* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2503941	NM_001002294.3(FMO3):c.584C>T (p.Ser195Leu)	FMO3, LOC126805916 (S132L +2 more)	Single nucleotide variant (missense variant)	Trimethylaminuria	GLikely pathogenic
Select item 2263197	NM_001002294.3(FMO3):c.510C>G (p.Cys170Trp)	FMO3, LOC126805916 (C107W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2187388	NM_001002294.3(FMO3):c.594T>A (p.Asp198Glu)	FMO3, LOC126805916 (D178E +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1322927	NM_001002294.3(FMO3):c.622G>T (p.Glu208Ter)	FMO3, LOC126805916 (E145* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 876846	NM_001002294.3(FMO3):c.627+13G>A	FMO3, LOC126805916	Single nucleotide variant (intron variant)	Trimethylaminuria	GUncertain significance
Select item 876845	NM_001002294.3(FMO3):c.613C>T (p.Arg205Cys)	FMO3, LOC126805916 (R142C +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 876844	NM_001002294.3(FMO3):c.539G>T (p.Gly180Val)	FMO3, LOC126805916 (G160V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 876843	NM_001002294.3(FMO3):c.484+13T>C	FMO3, LOC126805916	Single nucleotide variant (intron variant)	Trimethylaminuria	GUncertain significance
Select item 875850	NM_001002294.3(FMO3):c.428T>A (p.Val143Glu)	FMO3, LOC126805916 (V123E +2 more)	Single nucleotide variant (missense variant)	Trimethylaminuria	GUncertain significance
Select item 748907	NM_001002294.3(FMO3):c.585G>A (p.Ser195=)	FMO3, LOC126805916	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725663	NM_001002294.3(FMO3):c.549T>C (p.Asn183=)	FMO3, LOC126805916	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 562009	NM_001002294.3(FMO3):c.442G>A (p.Gly148Arg)	FMO3, LOC126805916 (G148R +2 more)	Single nucleotide variant (missense variant)	Trimethylaminuria	GLikely pathogenic
Select item 562008	NM_001002294.3(FMO3):c.370C>T (p.Gln124Ter)	FMO3, LOC126805916 (Q124* +2 more)	Single nucleotide variant (nonsense)	Trimethylaminuria +1 more	GPathogenic/Likely pathogenic
Select item 293689	NM_001002294.3(FMO3):c.430A>G (p.Met144Val)	FMO3, LOC126805916 (M144V +2 more)	Single nucleotide variant (missense variant)	Trimethylaminuria	GUncertain significance
Select item 260076	NM_001002294.3(FMO3):c.627+10C>G	FMO3, LOC126805916	Single nucleotide variant (intron variant)	Trimethylaminuria +2 more	GBenign
Select item 260075	NM_001002294.3(FMO3):c.585G>C (p.Ser195=)	FMO3, LOC126805916	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 260074	NM_001002294.3(FMO3):c.485-22G>A	FMO3, LOC126805916	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 260073	NM_001002294.3(FMO3):c.441C>T (p.Ser147=)	FMO3, LOC126805916	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 260072	NM_001002294.3(FMO3):c.394G>C (p.Asp132His)	FMO3, LOC126805916 (D132H +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 242472	NM_001002294.3(FMO3):c.560T>C (p.Val187Ala)	FMO3, LOC126805916 (V187A +2 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 225364	NM_001002294.3(FMO3):c.591_592del (p.Cys197_Asp198delinsTer)	FMO3, LOC126805916	Microsatellite (nonsense)	Trimethylaminuria +1 more	GPathogenic
Select item 217371	NM_006894.4(FMO3):c.[472G>A;560T>C]	LOC126805916, FMO3 (V187A +2 more)	Single nucleotide variant (missense variant)	Trimethylaminuria	GPathogenic
Select item 38394	NM_001002294.3(FMO3):c.472G>A (p.Glu158Lys)	LOC126805916, FMO3	Single nucleotide variant (missense variant)	Trimethylaminuria +3 more	GBenign
Select item 16318	NM_006894.4(FMO3):c.[472G>A;923A>G]	LOC126805916, FMO3 (E308G +2 more)	Single nucleotide variant (missense variant)	Trimethylaminuria +1 more	GPathogenic/Likely pathogenic
Select item 16310	NM_001002294.3(FMO3):c.442G>T (p.Gly148Ter)	FMO3, LOC126805916 (G148* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 16308	NM_001002294.3(FMO3):c.458C>T (p.Pro153Leu)	FMO3, LOC126805916 (P153L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 60