FLAD1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 60040	GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1	LOC129931527, LOC129931528 +91 more	Copy number loss	See cases	GPathogenic
Select item 1179862	NC_000001.11:g.154982978_154982979insGGGC	FLAD1	Insertion	not provided	GBenign
Select item 676267	NM_025207.4(FLAD1):c.-447C>T	FLAD1	Single nucleotide variant	not provided	GBenign
Select item 389482	NM_025207.5(FLAD1):c.-304C>T	FLAD1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 419775	NM_025207.5(FLAD1):c.-294AG[1]	FLAD1	Microsatellite (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 388265	NM_025207.5(FLAD1):c.-27A>G	FLAD1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1905322	NM_025207.5(FLAD1):c.33G>C (p.Gln11His)	FLAD1 (Q11H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2871110	NM_025207.5(FLAD1):c.36G>A (p.Arg12=)	FLAD1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2558443	NM_025207.5(FLAD1):c.53G>A (p.Arg18His)	FLAD1 (R18H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2038062	NM_025207.5(FLAD1):c.73G>C (p.Glu25Gln)	FLAD1 (E25Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2855348	NM_025207.5(FLAD1):c.78G>A (p.Lys26=)	FLAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1496588	NM_025207.5(FLAD1):c.97G>A (p.Gly33Arg)	FLAD1 (G33R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1930766	NM_025207.5(FLAD1):c.112C>G (p.Pro38Ala)	FLAD1 (P38A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1579430	NM_025207.5(FLAD1):c.120C>G (p.Leu40=)	FLAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1482880	NM_025207.5(FLAD1):c.122C>T (p.Pro41Leu)	FLAD1 (P41L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2568663	NM_025207.5(FLAD1):c.128G>A (p.Cys43Tyr)	FLAD1 (C43Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2052021	NM_025207.5(FLAD1):c.130C>T (p.Leu44Phe)	FLAD1 (L44F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1486691	NM_025207.5(FLAD1):c.136T>C (p.Trp46Arg)	FLAD1 (W46R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1937702	NM_025207.5(FLAD1):c.157A>T (p.Thr53Ser)	FLAD1 (T53S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2831737	NM_025207.5(FLAD1):c.189C>G (p.Pro63=)	FLAD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3005261	NM_025207.5(FLAD1):c.198T>C (p.Pro66=)	FLAD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1343852	NM_025207.5(FLAD1):c.203A>G (p.Asp68Gly)	FLAD1 (D68G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1944938	NM_025207.5(FLAD1):c.207G>C (p.Leu69=)	FLAD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2078879	NM_025207.5(FLAD1):c.210dup (p.Gly71fs)	FLAD1 (G71fs)	Duplication (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2192253	NM_025207.5(FLAD1):c.216C>T (p.Pro72=)	FLAD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2907861	NM_025207.5(FLAD1):c.232C>T (p.Leu78=)	FLAD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1416010	NM_025207.5(FLAD1):c.241G>T (p.Gly81Cys)	FLAD1 (G81C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2474627	NM_025207.5(FLAD1):c.254A>G (p.Tyr85Cys)	FLAD1 (Y85C)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2813236	NM_025207.5(FLAD1):c.264C>T (p.Ala88=)	FLAD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2069424	NM_025207.5(FLAD1):c.275G>C (p.Gly92Ala)	FLAD1 (G92A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1913309	NM_025207.5(FLAD1):c.277A>G (p.Arg93Gly)	FLAD1 (R93G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1999558	NM_025207.5(FLAD1):c.278G>A (p.Arg93Lys)	FLAD1 (R93K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1940764	NM_025207.5(FLAD1):c.282A>G (p.Glu94=)	FLAD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1312217	NM_025207.5(FLAD1):c.292A>G (p.Met98Val)	FLAD1 (M1V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2294969	NM_025207.5(FLAD1):c.299C>T (p.Ser100Phe)	FLAD1 (S3F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254506	NM_025207.5(FLAD1):c.308C>G (p.Ser103Cys)	FLAD1 (S6C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209409	NM_025207.5(FLAD1):c.308C>T (p.Ser103Phe)	FLAD1 (S103F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2414915	NM_025207.5(FLAD1):c.313C>T (p.Leu105Phe)	FLAD1 (L105F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2168561	NM_025207.5(FLAD1):c.320C>T (p.Pro107Leu)	FLAD1 (P107L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 224733	NM_025207.5(FLAD1):c.324del (p.Arg109fs)	FLAD1 (R109fs +1 more)	Deletion (frameshift variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2889462	NM_025207.5(FLAD1):c.339T>C (p.Ala113=)	FLAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1389254	NM_025207.5(FLAD1):c.347T>C (p.Ile116Thr)	FLAD1 (I19T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3095383	NM_025207.5(FLAD1):c.353T>A (p.Val118Asp)	FLAD1 (V118D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1998037	NM_025207.5(FLAD1):c.356_358del (p.Gly119del)	FLAD1 (G119del +1 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1381885	NM_025207.5(FLAD1):c.356G>A (p.Gly119Glu)	FLAD1 (G119E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2079079	NM_025207.5(FLAD1):c.360T>C (p.Asp120=)	FLAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2000199	NM_025207.5(FLAD1):c.362A>T (p.Glu121Val)	FLAD1 (E24V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1361605	NM_025207.5(FLAD1):c.363G>T (p.Glu121Asp)	FLAD1 (E121D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1582925	NM_025207.5(FLAD1):c.372+10G>A	FLAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1945771	NM_025207.5(FLAD1):c.372+12A>C	FLAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1641695	NM_025207.5(FLAD1):c.372+24_372+25del	FLAD1	Deletion (intron variant)	not provided	GLikely benign
Select item 1251277	NM_025207.5(FLAD1):c.372+120C>A	FLAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188354	NM_025207.5(FLAD1):c.372+186C>G	FLAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260633	NM_025207.5(FLAD1):c.372+218G>C	FLAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676268	NM_025207.5(FLAD1):c.373-699A>G	FLAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676269	NM_025207.5(FLAD1):c.373-562T>G	FLAD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1189605	NM_025207.5(FLAD1):c.373-516G>A	FLAD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2974398	NM_025207.5(FLAD1):c.373-14C>T	FLAD1 (P21L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1613632	NM_025207.5(FLAD1):c.373-14C>G	FLAD1 (P21R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1907996	NM_025207.5(FLAD1):c.373-8A>G	FLAD1 (N23S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1671142	NM_025207.5(FLAD1):c.373-7C>T	FLAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1921423	NM_025207.5(FLAD1):c.373-5C>T	FLAD1 (P24L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1936232	NM_025207.5(FLAD1):c.373-3C>G	FLAD1 (Q25E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1916416	NM_025207.5(FLAD1):c.373-3C>A	FLAD1 (Q25K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2421622	NM_025207.5(FLAD1):c.387C>T (p.Asp129=)	FLAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799984	NM_025207.5(FLAD1):c.390dup (p.Asn131fs)	FLAD1 (N32fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 224732	NM_025207.5(FLAD1):c.401_404del (p.Phe134fs)	FLAD1 (F35fs +2 more)	Microsatellite (frameshift variant)	Myopathy with abnormal lipid metabolism +1 more	GPathogenic
Select item 373037	NM_025207.5(FLAD1):c.408C>A (p.Cys136Ter)	FLAD1 (C136* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1352172	NM_025207.5(FLAD1):c.410G>A (p.Arg137Gln)	FLAD1 (R137Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2031336	NM_025207.5(FLAD1):c.414A>G (p.Thr138=)	FLAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2142960	NM_025207.5(FLAD1):c.416T>C (p.Leu139Pro)	FLAD1 (L139P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3095384	NM_025207.5(FLAD1):c.419G>A (p.Arg140His)	FLAD1 (R43H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2848857	NM_025207.5(FLAD1):c.435G>A (p.Gln145=)	FLAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1908432	NM_025207.5(FLAD1):c.441C>T (p.Cys147=)	FLAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1645535	NM_025207.5(FLAD1):c.443G>A (p.Arg148Gln)	FLAD1 (R148Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1326550	NM_025207.5(FLAD1):c.445G>A (p.Val149Ile)	FLAD1 (V149I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2082796	NM_025207.5(FLAD1):c.451G>C (p.Val151Leu)	FLAD1 (V54L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3095385	NM_025207.5(FLAD1):c.452T>C (p.Val151Ala)	FLAD1 (V54A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 224734	NM_025207.5(FLAD1):c.498del (p.Ser167fs)	FLAD1 (S167fs +2 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1700767	NM_025207.5(FLAD1):c.503A>G (p.Asn168Ser)	FLAD1 (N168S +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1538279	NM_025207.5(FLAD1):c.503A>T (p.Asn168Ile)	FLAD1 (N168I +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1899426	NM_025207.5(FLAD1):c.506G>A (p.Arg169His)	FLAD1 (R169H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 224735	NM_025207.5(FLAD1):c.508T>C (p.Phe170Leu)	FLAD1 (F170L +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2906791	NM_025207.5(FLAD1):c.525A>G (p.Thr175=)	FLAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 224731	NM_025207.5(FLAD1):c.526_537delinsCA (p.Ala176fs)	FLAD1 (A176fs +2 more)	Indel (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1956525	NM_025207.5(FLAD1):c.532G>A (p.Gly178Ser)	FLAD1 (G79S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2053497	NM_025207.5(FLAD1):c.537C>T (p.Ile179=)	FLAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931855	NM_025207.5(FLAD1):c.538G>A (p.Gly180Ser)	FLAD1 (G81S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 224728	NM_025207.5(FLAD1):c.568_569dup (p.Val191fs)	FLAD1 (V191fs +2 more)	Duplication (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 932524	NM_025207.5(FLAD1):c.573G>C (p.Val191=)	FLAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1311404	NM_025207.5(FLAD1):c.580G>T (p.Ala194Ser)	FLAD1 (A194S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1529086	NM_025207.5(FLAD1):c.609C>T (p.Pro203=)	FLAD1	Single nucleotide variant (synonymous variant)	FLAD1-related condition +1 more	GLikely benign
Select item 799766	NM_025207.5(FLAD1):c.627C>T (p.Thr209=)	FLAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726018	NM_025207.5(FLAD1):c.640G>A (p.Gly214Arg)	FLAD1 (G117R +2 more)	Single nucleotide variant (missense variant)	FLAD1-related condition +1 more	GLikely benign
Select item 392387	NM_025207.5(FLAD1):c.645A>G (p.Glu215=)	FLAD1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1906254	NM_025207.5(FLAD1):c.648C>A (p.Gly216=)	FLAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000606	NM_025207.5(FLAD1):c.664T>C (p.Leu222=)	FLAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3030194	NM_025207.5(FLAD1):c.675C>G (p.Ser225=)	FLAD1	Single nucleotide variant (synonymous variant)	FLAD1-related condition	GLikely benign

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