FMN1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149530	GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3	ACTC1, APBA2 +363 more	Copy number gain	See cases	GPathogenic
Select item 146702	GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1	ACTC1, APBA2 +346 more	Copy number loss	See cases	GPathogenic
Select item 155138	GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1	ARHGAP11B, ARHGAP11B-DT +314 more	Copy number loss	See cases	GPathogenic
Select item 57876	GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1	LOC132090301, LOC132090302 +178 more	Copy number loss	See cases	GPathogenic
Select item 57451	GRCh38/hg38 15q13.3-14(chr15:32607298-35200429)x3	ACTC1, AQR +93 more	Copy number gain	See cases	GPathogenic
Select item 154262	GRCh38/hg38 15q13.3(chr15:32632993-32806319)x3	ARHGAP11A, ARHGAP11A-SCG5 +7 more	Copy number gain	See cases	GUncertain significance
Select item 153142	GRCh38/hg38 15q13.3(chr15:32633290-32781366)x3	FMN1, ARHGAP11A +7 more	Copy number gain	See cases	GUncertain significance
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
Select item 3024374	GRCh38/hg38 15q13.3-14(chr15:32640661-34525062)	LOC130056751, LOC130056752 +62 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 1233503	NM_001277313.2(FMN1):c.*184C>T	FMN1, LOC126862090	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1238013	NM_001277313.2(FMN1):c.*33G>A	FMN1, LOC126862090	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 194719	NM_001277313.2(FMN1):c.*1G>A	FMN1, LOC126862090	Single nucleotide variant (3 prime UTR variant)	FMN1-related disorder +1 more	GLikely benign
Select item 2314910	NM_001277313.2(FMN1):c.4246G>A (p.Val1416Met)	FMN1, LOC126862090 (V1193M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2863286	NM_001277313.2(FMN1):c.4245T>G (p.Ser1415Arg)	FMN1, LOC126862090 (S1192R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2593242	NM_001277313.2(FMN1):c.4229G>A (p.Arg1410His)	FMN1, LOC126862090 (R1187H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2756056	NM_001277313.2(FMN1):c.4216-10dup	FMN1, LOC126862090	Duplication (intron variant)	not provided	GLikely benign
Select item 2803984	NM_001277313.2(FMN1):c.4216-14T>C	FMN1, LOC126862090	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267922	NM_001277313.2(FMN1):c.4216-27A>T	FMN1, LOC126862090	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275341	NM_001277313.2(FMN1):c.4216-171_4216-168del	FMN1, LOC126862090	Microsatellite (intron variant)	not provided	GBenign
Select item 1275586	NM_001277313.2(FMN1):c.4215+146_4215+147insAG	FMN1	Insertion (intron variant)	not provided	GBenign
Select item 1256948	NM_001277313.2(FMN1):c.4215+147del	FMN1	Deletion (intron variant)	not provided	GBenign
Select item 2041912	NM_001277313.2(FMN1):c.4215+9T>C	FMN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1633281	NM_001277313.2(FMN1):c.4132T>C (p.Leu1378=)	FMN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1264178	NM_001277313.2(FMN1):c.4131-184C>T	FMN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294830	NM_001277313.2(FMN1):c.4130+121A>C	FMN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2309054	NM_001277313.2(FMN1):c.4121C>G (p.Ser1374Cys)	FMN1 (S1151C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271508	NM_001277313.2(FMN1):c.4102C>G (p.Arg1368Gly)	FMN1 (R1145G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1372715	NM_001277313.2(FMN1):c.4059G>A (p.Met1353Ile)	FMN1 (M1353I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1264971	NM_001277313.2(FMN1):c.4056T>C (p.Phe1352=)	FMN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1471090	NM_001277313.2(FMN1):c.4051G>T (p.Val1351Leu)	FMN1 (V1128L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 497271	NM_001277313.2(FMN1):c.4051G>A (p.Val1351Met)	FMN1 (V1128M +1 more)	Single nucleotide variant (missense variant)	FMN1-related disorder +2 more	GLikely benign
Select item 194480	NM_001277313.2(FMN1):c.4030_4032del (p.Lys1344del)	FMN1 (K1121del +1 more)	Deletion (inframe_deletion)	not specified +1 more	GBenign
Select item 1950890	NM_001277313.2(FMN1):c.4000T>C (p.Tyr1334His)	FMN1 (Y1334H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2232518	NM_001277313.2(FMN1):c.3998G>A (p.Arg1333Gln)	FMN1 (R1110Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2091398	NM_001277313.2(FMN1):c.3981-5dup	FMN1	Duplication (intron variant)	not provided	GLikely benign
Select item 1279887	NM_001277313.2(FMN1):c.3981-127G>T	FMN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263018	NM_001277313.2(FMN1):c.3980+187G>A	FMN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 194352	NM_001277313.2(FMN1):c.3974A>G (p.Gln1325Arg)	FMN1 (Q1102R +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2055527	NM_001277313.2(FMN1):c.3931A>G (p.Lys1311Glu)	FMN1 (K1311E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1601200	NM_001277313.2(FMN1):c.3929-10T>C	FMN1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1267953	NM_001277313.2(FMN1):c.3929-27T>A	FMN1	Single nucleotide variant (genic upstream transcript variant +1 more)	not provided	GBenign
Select item 1180856	NM_001277313.2(FMN1):c.3929-100_3929-92del	FMN1	Deletion (genic upstream transcript variant +1 more)	not provided	GBenign
Select item 1251732	NM_001277313.2(FMN1):c.3929-112_3929-103del	FMN1	Deletion (genic upstream transcript variant +1 more)	not provided	GBenign
Select item 1242308	NM_001277313.2(FMN1):c.3929-113_3929-103del	FMN1	Deletion (genic upstream transcript variant +1 more)	not provided	GBenign
Select item 1178831	NM_001277313.2(FMN1):c.3929-130C>G	FMN1	Single nucleotide variant (genic upstream transcript variant +1 more)	not provided	GBenign
Select item 1178884	NM_001277313.2(FMN1):c.3929-133T>C	FMN1	Single nucleotide variant (genic upstream transcript variant +1 more)	not provided	GBenign
Select item 1228287	NM_001277313.2(FMN1):c.3929-194_3929-193dup	FMN1	Duplication (genic upstream transcript variant +1 more)	not provided	GBenign
Select item 1273623	NM_001277313.2(FMN1):c.3928+157G>A	FMN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265410	NM_001277313.2(FMN1):c.3928+129C>T	FMN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1610324	NM_001277313.2(FMN1):c.3928+20G>A	FMN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1629610	NM_001277313.2(FMN1):c.3928+12T>G	FMN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3095804	NM_001277313.2(FMN1):c.3886C>A (p.Leu1296Ile)	FMN1 (L1073I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2859628	NM_001277313.2(FMN1):c.3884A>T (p.Tyr1295Phe)	FMN1 (Y1295F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 710291	NM_001277313.2(FMN1):c.3882G>A (p.Glu1294=)	FMN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2345047	NM_001277313.2(FMN1):c.3877A>G (p.Lys1293Glu)	FMN1 (K1070E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2841951	NM_001277313.2(FMN1):c.3866A>C (p.Lys1289Thr)	FMN1 (K1066T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060533	NM_001277313.2(FMN1):c.3861G>A (p.Val1287=)	FMN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778525	NM_001277313.2(FMN1):c.3856G>A (p.Val1286Met)	FMN1 (V1063M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1287327	NM_001277313.2(FMN1):c.3835+185_3835+187del	FMN1	Microsatellite (intron variant)	not provided	GBenign
Select item 1237497	NM_001277313.2(FMN1):c.3835+141T>C	FMN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1927700	NM_001277313.2(FMN1):c.3835+16C>T	FMN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1358151	NM_001277313.2(FMN1):c.3832G>A (p.Glu1278Lys)	FMN1 (E1055K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1929175	NM_001277313.2(FMN1):c.3826C>A (p.Gln1276Lys)	FMN1 (Q1053K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2455914	NM_001277313.2(FMN1):c.3763T>G (p.Phe1255Val)	FMN1 (F1032V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2367321	NM_001277313.2(FMN1):c.3749C>T (p.Pro1250Leu)	FMN1 (P1250L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2958114	NM_001277313.2(FMN1):c.3715-11A>G	FMN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1951231	NM_001277313.2(FMN1):c.3715-14A>G	FMN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253041	NM_001277313.2(FMN1):c.3715-27T>C	FMN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1638669	NM_001277313.2(FMN1):c.3714+18G>A	FMN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 284763	NM_001277313.2(FMN1):c.3714+12T>C	FMN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 193832	NM_001277313.2(FMN1):c.3708T>C (p.Tyr1236=)	FMN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1973211	NM_001277313.2(FMN1):c.3700C>T (p.Arg1234Cys)	FMN1 (R1011C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1631307	NM_001277313.2(FMN1):c.3697C>T (p.Leu1233=)	FMN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1915211	NM_001277313.2(FMN1):c.3682G>A (p.Val1228Ile)	FMN1 (V1005I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 723405	NM_001277313.2(FMN1):c.3681C>T (p.Tyr1227=)	FMN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2309688	NM_001277313.2(FMN1):c.3677A>C (p.Asp1226Ala)	FMN1 (D1226A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1259966	NM_001277313.2(FMN1):c.3655-93T>C	FMN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276851	NM_001277313.2(FMN1):c.3654+183_3654+184dup	FMN1	Duplication (intron variant)	not provided	GBenign
Select item 1183816	NM_001277313.2(FMN1):c.3654+183dup	FMN1	Duplication (intron variant)	not provided	GBenign
Select item 1227360	NM_001277313.2(FMN1):c.3654+181_3654+184del	FMN1	Deletion (intron variant)	not provided	GBenign
Select item 1289686	NM_001277313.2(FMN1):c.3654+176T>G	FMN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2971958	NM_001277313.2(FMN1):c.3604G>A (p.Asp1202Asn)	FMN1 (D1202N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1533780	NM_001277313.2(FMN1):c.3594G>A (p.Arg1198=)	FMN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2462436	NM_001277313.2(FMN1):c.3592C>T (p.Arg1198Trp)	FMN1 (R1198W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 593778	NM_001277313.2(FMN1):c.3528C>T (p.Ser1176=)	FMN1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2075303	NM_001277313.2(FMN1):c.3522G>C (p.Val1174=)	FMN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2701356	NM_001277313.2(FMN1):c.3519C>T (p.His1173=)	FMN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2410002	NM_001277313.2(FMN1):c.3473A>G (p.His1158Arg)	FMN1 (H935R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2057159	NM_001277313.2(FMN1):c.3467C>G (p.Ser1156Cys)	FMN1 (S933C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2511627	NM_001277313.2(FMN1):c.3386A>T (p.His1129Leu)	FMN1 (H1129L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 502004	NM_001277313.2(FMN1):c.3343GAA[2] (p.Glu1117del)	FMN1 (E1117del +1 more)	Microsatellite (inframe_deletion)	FMN1-related disorder +2 more	GLikely benign
Select item 2363390	NM_001277313.2(FMN1):c.3343G>A (p.Glu1115Lys)	FMN1 (E1115K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1646462	NM_001277313.2(FMN1):c.3341A>G (p.Lys1114Arg)	FMN1 (K1114R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2704381	NM_001277313.2(FMN1):c.3291_3294dup (p.Gln1099fs)	FMN1 (Q1099fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1294750	NM_001277313.2(FMN1):c.3289-45dup	FMN1	Duplication (intron variant)	not provided	GBenign
Select item 1277851	NM_001277313.2(FMN1):c.3289-45_3289-44dup	FMN1	Duplication (intron variant)	not provided	GBenign
Select item 1277744	NM_001277313.2(FMN1):c.3289-28_3289-26del	FMN1	Deletion (intron variant)	not provided	GBenign
Select item 1267624	NM_001277313.2(FMN1):c.3289-27_3289-26del	FMN1	Deletion (intron variant)	not provided	GBenign
Select item 1226204	NM_001277313.2(FMN1):c.3289-26del	FMN1	Deletion (intron variant)	not provided	GBenign
Select item 1222393	NM_001277313.2(FMN1):c.3289-29_3289-26del	FMN1	Deletion (intron variant)	not provided	GBenign

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