ClinVar for Gene (Select 2330) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3279361	NM_001461.4(FMO5):c.685G>A (p.Gly229Arg)	CHD1L, FMO5 (G229R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279360	NM_001461.4(FMO5):c.28G>T (p.Gly10Trp)	CHD1L, FMO5 (G10W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242445	GRCh38/hg38 1q21.1-21.2(chr1:146387442-148577050)x3	ACP6, BCL9 +62 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 3236400	NC_000001.11:g.145516559_149951620del	ACP6, ANKRD34A +174 more	Deletion	Cataract 46 juvenile-onset	GUncertain significance
Select item 3236399	NC_000001.11:g.146020242_147909267del	LINC00624, ACP6 +46 more	Deletion	Cataract 46 juvenile-onset	GUncertain significance
Select item 3148893	GRCh37/hg19 1q21.1-21.2(chr1:144055163-148789835)x3	ACP6, ANKRD34A +35 more	Copy number gain	See cases	GPathogenic
Select item 3148875	GRCh37/hg19 1q21.1-21.2(chr1:144055163-149664300)x3	ACP6, ANKRD34A +39 more	Copy number gain	See cases	GPathogenic
Select item 3095922	NM_001461.4(FMO5):c.958G>A (p.Glu320Lys)	CHD1L, FMO5 (E320K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095920	NM_001461.4(FMO5):c.673G>A (p.Val225Ile)	CHD1L, FMO5 (V225I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095919	NM_001461.4(FMO5):c.602C>A (p.Ala201Asp)	CHD1L, FMO5 (A201D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095918	NM_001461.4(FMO5):c.53C>T (p.Ser18Phe)	CHD1L, FMO5 (S18F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095917	NM_001461.4(FMO5):c.434T>C (p.Met145Thr)	CHD1L, FMO5 (M145T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095916	NM_001461.4(FMO5):c.328A>G (p.Thr110Ala)	CHD1L, FMO5 (T110A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095915	NM_001461.4(FMO5):c.1535C>T (p.Ser512Leu)	CHD1L, FMO5 (S512L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3095914	NM_001461.4(FMO5):c.1397G>A (p.Gly466Glu)	CHD1L, FMO5 (G466E)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3095913	NM_001461.4(FMO5):c.1273C>T (p.Arg425Cys)	CHD1L, FMO5 (R425C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3095912	NM_001461.4(FMO5):c.1250A>G (p.Asp417Gly)	CHD1L, FMO5 (D417G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3095911	NM_001461.4(FMO5):c.1247T>C (p.Ile416Thr)	CHD1L, FMO5 (I416T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3095910	NM_001461.4(FMO5):c.1111T>A (p.Leu371Met)	CHD1L, FMO5 (L371M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095909	NM_001461.4(FMO5):c.1102A>C (p.Ile368Leu)	CHD1L, FMO5 (I368L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063188	GRCh37/hg19 1q21.1-21.2(chr1:146106723-147844758)x3	ACP6, BCL9 +7 more	Copy number gain	not specified	GPathogenic
Select item 3062999	GRCh37/hg19 1q21.1-21.2(chr1:146496425-147048600)x3	BCL9, CHD1L +2 more	Copy number gain	not specified	GUncertain significance
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062977	GRCh37/hg19 1q21.1-21.2(chr1:146470887-147929115)x1	ACP6, BCL9 +6 more	Copy number loss	not specified	GPathogenic
Select item 3062888	GRCh37/hg19 1q21.1-21.2(chr1:146112080-147806677)x3	ACP6, BCL9 +7 more	Copy number gain	not specified	GPathogenic
Select item 3062866	GRCh37/hg19 1q21.1-21.2(chr1:146043713-147830830)x1	ACP6, BCL9 +8 more	Copy number loss	not specified	GPathogenic
Select item 3062811	GRCh37/hg19 1q21.1-21.2(chr1:146105170-147830830)x1	ACP6, BCL9 +7 more	Copy number loss	not specified	GPathogenic
Select item 3062789	GRCh37/hg19 1q21.1-21.2(chr1:146470887-147856007)x3	ACP6, BCL9 +6 more	Copy number gain	not specified	GPathogenic
Select item 3062722	GRCh37/hg19 1q21.1-21.2(chr1:146470887-147929323)x1	ACP6, BCL9 +6 more	Copy number loss	not specified	GPathogenic
Select item 3062644	GRCh37/hg19 1q21.1-21.2(chr1:146023922-147831170)x3	ACP6, BCL9 +8 more	Copy number gain	not specified	GPathogenic
Select item 3024561	GRCh37/hg19 1q21.1-21.2(chr1:145421717-148193211)	ACP6, ANKRD34A +23 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 2685826	GRCh37/hg19 1q21.1-21.2(chr1:146577645-147391923)x3	ACP6, BCL9 +5 more	Copy number gain	not provided	GPathogenic
Select item 2685825	GRCh37/hg19 1q21.1-21.2(chr1:146043714-147819815)x3	ACP6, BCL9 +8 more	Copy number gain	not provided	GPathogenic
Select item 2685654	GRCh37/hg19 1q21.1-21.2(chr1:146470888-147473821)x1	ACP6, BCL9 +6 more	Copy number loss	not provided	GPathogenic
Select item 2685643	GRCh37/hg19 1q21.1-21.2(chr1:145769109-148216113)x1	ACP6, BCL9 +10 more	Copy number loss	not provided	GPathogenic
Select item 2685599	GRCh37/hg19 1q21.1-21.2(chr1:145311525-147509544)x1	ACP6, ANKRD34A +25 more	Copy number loss	not provided	GPathogenic
Select item 2665054	GRCh38/hg38 1q21.1-21.2(chr1:146872717-148353641)	ACP6, BCL9 +59 more	Copy number loss	1q21.1 microdeletion syndrome (BP3-BP4, distal)	GPathogenic
Select item 2607914	NM_001461.4(FMO5):c.592G>A (p.Gly198Arg)	CHD1L, FMO5 (G198R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598190	NM_001461.4(FMO5):c.67G>A (p.Val23Ile)	CHD1L, FMO5 (V23I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594157	NM_001461.4(FMO5):c.1421G>A (p.Arg474His)	CHD1L, FMO5 (R474H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2594121	NM_001461.4(FMO5):c.524G>A (p.Arg175Gln)	CHD1L, FMO5 (R175Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593192	NM_001461.4(FMO5):c.1382T>C (p.Leu461Ser)	CHD1L, FMO5 (L461S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2593042	NM_001461.4(FMO5):c.1591G>C (p.Ala531Pro)	CHD1L, FMO5 (A531P)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2588575	NM_001461.4(FMO5):c.1159C>T (p.Arg387Cys)	CHD1L, FMO5 (R387C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580347	GRCh37/hg19 1q21.1-21.2(chr1:145883619-147817082)x3	ACP6, BCL9 +8 more	Copy number gain	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2580307	GRCh37/hg19 1q21.1-21.2(chr1:145883619-147594599)x1	ACP6, BCL9 +8 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 2580296	GRCh37/hg19 1q21.1-21.2(chr1:146474687-147415708)x1	ACP6, BCL9 +6 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 2578608	GRCh37/hg19 1q21.1-21.2(chr1:146057275-147581622)x1	ACP6, BCL9 +8 more	Copy number loss	not provided	GPathogenic
Select item 2559486	NM_001461.4(FMO5):c.904G>C (p.Gly302Arg)	CHD1L, FMO5 (G302R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545889	NM_001461.4(FMO5):c.106G>T (p.Asp36Tyr)	CHD1L, FMO5 (D36Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523908	NM_001461.4(FMO5):c.1408C>G (p.Pro470Ala)	CHD1L, FMO5 (P470A)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2522787	NM_001461.4(FMO5):c.262G>A (p.Val88Ile)	CHD1L, FMO5 (V88I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511209	NM_001461.4(FMO5):c.443C>A (p.Thr148Asn)	CHD1L, FMO5 (T148N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2506525	GRCh37/hg19 1q21.1-21.2(chr1:146465878-147416212)	BCL9, ACP6 +7 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2498453	GRCh37/hg19 1q21.1-21.2(chr1:146405854-147597284)x1	ACP6, BCL9 +7 more	Copy number loss	not provided	GPathogenic
Select item 2494799	NM_001461.4(FMO5):c.244T>C (p.Phe82Leu)	CHD1L, FMO5 (F82L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493619	NM_001461.4(FMO5):c.1375C>G (p.Leu459Val)	CHD1L, FMO5 (L459V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2485924	NM_001461.4(FMO5):c.1261G>A (p.Val421Met)	CHD1L, FMO5 (V421M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2482272	NM_001461.4(FMO5):c.842A>G (p.Gln281Arg)	CHD1L, FMO5 (Q281R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466827	NM_001461.4(FMO5):c.173C>T (p.Ser58Leu)	CHD1L, FMO5 (S58L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461899	NM_001461.4(FMO5):c.528C>G (p.Asp176Glu)	CHD1L, FMO5 (D176E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2445223	Single allele	ACP6, BCL9 +9 more	Duplication	See cases	GPathogenic
Select item 2410646	NM_001461.4(FMO5):c.516C>A (p.Phe172Leu)	CHD1L, FMO5 (F172L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396431	NM_001461.4(FMO5):c.401G>A (p.Gly134Glu)	CHD1L, FMO5 (G134E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371544	NM_001461.4(FMO5):c.968T>C (p.Ile323Thr)	CHD1L, FMO5 (I323T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370696	NM_001461.4(FMO5):c.874C>T (p.Arg292Cys)	CHD1L, FMO5 (R292C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370653	NM_001461.4(FMO5):c.1477G>A (p.Asp493Asn)	CHD1L, FMO5 (D493N)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2362693	NM_001461.4(FMO5):c.940T>A (p.Phe314Ile)	CHD1L, FMO5 (F314I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335278	NM_001461.4(FMO5):c.31G>A (p.Gly11Arg)	CHD1L, FMO5 (G11R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320028	NM_001461.4(FMO5):c.1418A>G (p.Tyr473Cys)	CHD1L, FMO5 (Y473C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2308209	NM_001461.4(FMO5):c.1162T>C (p.Trp388Arg)	CHD1L, FMO5 (W388R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301496	NM_001461.4(FMO5):c.1409C>T (p.Pro470Leu)	CHD1L, FMO5 (P470L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2270380	NM_001461.4(FMO5):c.622G>A (p.Ala208Thr)	CHD1L, FMO5 (A208T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256913	NM_001461.4(FMO5):c.423T>G (p.Phe141Leu)	CHD1L, FMO5 (F141L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240091	NM_001461.4(FMO5):c.655G>A (p.Ala219Thr)	CHD1L, FMO5 (A219T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237765	NM_001461.4(FMO5):c.1304C>A (p.Thr435Asn)	CHD1L, FMO5 (T435N)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2214675	NM_001461.4(FMO5):c.1480C>T (p.Arg494Cys)	CHD1L, FMO5 (R494C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2205287	NM_001461.4(FMO5):c.1571C>A (p.Ala524Asp)	CHD1L, FMO5 (A524D)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1879126	GRCh37/hg19 1q21.1-21.2(chr1:145365287-147416212)x1	ACP6, ANKRD34A +25 more	Copy number loss	not provided	GPathogenic
Select item 1810322	GRCh37/hg19 1q21.1-21.2(chr1:146542843-147857135)x1	ACP6, BCL9 +6 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	Gnot provided
Select item 1808743	GRCh37/hg19 1q21.1-21.2(chr1:145074728-148832359)x1	ACP6, ANKRD34A +32 more	Copy number loss	not provided	GPathogenic
Select item 1808730	GRCh37/hg19 1q21.1-21.2(chr1:145768023-147929323)x1	ACP6, BCL9 +9 more	Copy number loss	not provided	GPathogenic
Select item 1808713	GRCh37/hg19 1q21.1-21.2(chr1:145770680-147929323)x1	ACP6, BCL9 +9 more	Copy number loss	not provided	GPathogenic
Select item 1808631	GRCh37/hg19 1q21.1-21.2(chr1:145895747-147962980)x1	ACP6, BCL9 +8 more	Copy number loss	not provided	GPathogenic
Select item 1808477	GRCh37/hg19 1q21.1-21.2(chr1:146498299-147393336)x3	FMO5, GJA5 +5 more	Copy number gain	not provided	GPathogenic
Select item 1803806	GRCh37/hg19 1q21.1-21.2(chr1:146493131-147831043)x1	ACP6, BCL9 +6 more	Copy number loss	not provided	GPathogenic
Select item 1711249	GRCh37/hg19 1q21.1-21.2(chr1:146626685-147597284)x1	ACP6, BCL9 +6 more	Copy number loss	not provided	GPathogenic
Select item 1708199	GRCh37/hg19 1q21.1-21.2(chr1:145157447-148016122)x1	ACP6, ANKRD34A +26 more	Copy number loss	See cases	GPathogenic
Select item 1708187	GRCh37/hg19 1q21.1-21.2(chr1:146105170-147830830)x1	PRKAB2, NBPF12 +7 more	Copy number loss	See cases	GPathogenic
Select item 1703635	GRCh37/hg19 1q21.1-21.2(chr1:146043713-147830830)	BCL9, ACP6 +8 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1703634	GRCh37/hg19 1q21.1-21.2(chr1:145808308-147819294)	ACP6, BCL9 +9 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1703633	GRCh37/hg19 1q21.1-21.2(chr1:145768022-148020154)	ACP6, BCL9 +9 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1703632	GRCh37/hg19 1q21.1-21.2(chr1:146101790-147832190)	ACP6, BCL9 +7 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 1703631	GRCh37/hg19 1q21.1-21.2(chr1:146145424-147929323)	ACP6, BCL9 +7 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 1703630	GRCh37/hg19 1q21.1-21.2(chr1:146101790-147831000)	ACP6, BCL9 +7 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 1703529	GRCh37/hg19 1q21.1-21.2(chr1:145792051-148001265)	ACP6, BCL9 +9 more	Copy number gain	Hypoplastic left heart syndrome 1	GPathogenic
Select item 1679693	Single allele	ACP6, BCL9 +51 more	Duplication	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1340506	GRCh37/hg19 1q21.1-21.2(chr1:146043714-148514899)x1	TRN-GTT2-7, NBPF11 +10 more	Copy number loss	not provided	GPathogenic

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