14074[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	ACTN2, ADSS2 +271 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	ACTN2, ADSS2 +302 more	Copy number loss	See cases	GPathogenic
Select item 148436	GRCh38/hg38 1q43(chr1:237322513-240310271)x1	CHRM3, CHRM3-AS1 +11 more	Copy number loss	See cases	GUncertain significance
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +283 more	Copy number loss	See cases	GPathogenic
Select item 60117	GRCh38/hg38 1q43-44(chr1:237906379-244022201)x1	AKT3, AKT3-IT1 +55 more	Copy number loss	See cases	GPathogenic
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 144759	GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 60119	GRCh38/hg38 1q43(chr1:238412092-241098768)x1	CHRM3, CHRM3-AS1 +13 more	Copy number loss	See cases	GPathogenic
Select item 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +278 more	Copy number loss	See cases	GPathogenic
Select item 153226	GRCh38/hg38 1q43(chr1:239288025-242458053)x1	BECN2, CHML +35 more	Copy number loss	See cases	GPathogenic
Select item 60149	GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1	LOC132088686, LOC440742 +277 more	Copy number loss	See cases	GPathogenic
Select item 60150	GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1	ADSS2, AHCTF1 +277 more	Copy number loss	See cases	GPathogenic
Select item 57847	GRCh38/hg38 1q43(chr1:239631841-242609012)x3	BECN2, CHML +35 more	Copy number gain	See cases	GUncertain significance
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	ADSS2, AHCTF1 +275 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2572878	NM_020066.5(FMN2):c.-1C>T	FMN2	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 729042	NM_020066.5(FMN2):c.84G>A (p.Gly28=)	FMN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3353161	NM_020066.5(FMN2):c.87C>A (p.Pro29=)	FMN2	Single nucleotide variant (synonymous variant)	FMN2-related disorder	GLikely benign
Select item 3095835	NM_020066.5(FMN2):c.92A>G (p.Asp31Gly)	FMN2 (D31G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520259	NM_020066.5(FMN2):c.148A>C (p.Lys50Gln)	FMN2 (K50Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057805	NM_020066.5(FMN2):c.153G>A (p.Gly51=)	FMN2	Single nucleotide variant (synonymous variant)	FMN2-related disorder	GLikely benign
Select item 1285272	NM_020066.5(FMN2):c.162CGG[4] (p.Gly59del)	FMN2 (G59del)	Microsatellite (inframe_deletion)	Intellectual disability, autosomal recessive 47	GBenign
Select item 2578603	NM_020066.5(FMN2):c.162C>G (p.Gly54=)	FMN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 691474	NM_020066.5(FMN2):c.162del (p.Gly55fs)	FMN2 (G55fs)	Deletion (frameshift variant)	Intellectual disability, autosomal recessive 47 +1 more	GConflicting classifications of pathogenicity
Select item 3030846	NM_020066.5(FMN2):c.168C>A (p.Gly56=)	FMN2	Single nucleotide variant (synonymous variant)	FMN2-related disorder	GLikely benign
Select item 2640126	NM_020066.5(FMN2):c.177G>T (p.Gly59=)	FMN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2360595	NM_020066.5(FMN2):c.226T>A (p.Ser76Thr)	FMN2 (S76T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 731791	NM_020066.5(FMN2):c.270C>T (p.Ala90=)	FMN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3279306	NM_020066.5(FMN2):c.280C>A (p.Arg94Ser)	FMN2 (R94S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095821	NM_020066.5(FMN2):c.292C>G (p.Leu98Val)	FMN2 (L98V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205427	NM_020066.5(FMN2):c.361C>A (p.Leu121Ile)	FMN2 (L121I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 777107	NM_020066.5(FMN2):c.363C>T (p.Leu121=)	FMN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 435213	NM_020066.5(FMN2):c.371C>T (p.Ser124Leu)	FMN2 (S124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1694550	NM_020066.5(FMN2):c.384C>T (p.Ala128=)	FMN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1336408	NM_020066.5(FMN2):c.399C>T (p.Thr133=)	FMN2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 788386	NM_020066.5(FMN2):c.426C>T (p.Thr142=)	FMN2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 766139	NM_020066.5(FMN2):c.468C>T (p.Gly156=)	FMN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724625	NM_020066.5(FMN2):c.525C>A (p.Thr175=)	FMN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 435214	NM_020066.5(FMN2):c.531G>A (p.Ser177=)	FMN2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 429780	NM_020066.5(FMN2):c.547A>T (p.Ile183Phe)	FMN2 (I183F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 47 +1 more	GLikely pathogenic
Select item 1033928	NM_020066.5(FMN2):c.575A>T (p.Gln192Leu)	FMN2 (Q192L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3095831	NM_020066.5(FMN2):c.604G>A (p.Ala202Thr)	FMN2 (A202T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 709718	NM_020066.5(FMN2):c.617AGC[8] (p.Gln212dup)	FMN2	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 1033929	NM_020066.5(FMN2):c.629A>G (p.Gln210Arg)	FMN2 (Q210R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 47 +1 more	GUncertain significance
Select item 435215	NM_020066.5(FMN2):c.659AGC[7] (p.Gln225dup)	FMN2	Microsatellite (inframe_insertion)	not provided +1 more	GBenign
Select item 1337226	NM_020066.5(FMN2):c.681G>A (p.Gln227=)	FMN2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 435235	NM_020066.5(FMN2):c.694C>G (p.Pro232Ala)	FMN2 (P232A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 435216	NM_020066.5(FMN2):c.696T>C (p.Pro232=)	FMN2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 435217	NM_020066.5(FMN2):c.699A>C (p.Ala233=)	FMN2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 794602	NM_020066.5(FMN2):c.708C>G (p.Pro236=)	FMN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3032065	NM_020066.5(FMN2):c.729C>T (p.Pro243=)	FMN2	Single nucleotide variant (synonymous variant)	FMN2-related disorder	GLikely benign
Select item 2505861	NM_020066.5(FMN2):c.731G>C (p.Gly244Ala)	FMN2 (G244A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2540048	NM_020066.5(FMN2):c.742G>A (p.Gly248Ser)	FMN2 (G248S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095832	NM_020066.5(FMN2):c.760C>A (p.Leu254Met)	FMN2 (L254M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3341558	NM_020066.5(FMN2):c.762G>A (p.Leu254=)	FMN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 377373	NM_020066.5(FMN2):c.778G>A (p.Ala260Thr)	FMN2 (A260T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 596770	NM_020066.5(FMN2):c.806C>G (p.Thr269Ser)	FMN2 (T269S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 286881	NM_020066.5(FMN2):c.846C>A (p.Ser282Arg)	FMN2 (S282R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3095833	NM_020066.5(FMN2):c.862C>T (p.Arg288Trp)	FMN2 (R288W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2690601	NM_020066.5(FMN2):c.874C>T (p.Gln292Ter)	FMN2 (Q292*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 47	GLikely pathogenic
Select item 3095834	NM_020066.5(FMN2):c.877C>T (p.Pro293Ser)	FMN2 (P293S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 286882	NM_020066.5(FMN2):c.883T>C (p.Ser295Pro)	FMN2 (S295P)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2441895	NM_020066.5(FMN2):c.884C>T (p.Ser295Phe)	FMN2 (S295F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 47	GUncertain significance
Select item 502309	NM_020066.5(FMN2):c.893G>A (p.Gly298Asp)	FMN2 (G298D)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2640127	NM_020066.5(FMN2):c.903C>T (p.Val301=)	FMN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3253463	NM_020066.5(FMN2):c.910G>A (p.Ala304Thr)	FMN2 (A304T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 435233	NM_020066.5(FMN2):c.916A>G (p.Ser306Gly)	FMN2 (S306G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640128	NM_020066.5(FMN2):c.924G>C (p.Pro308=)	FMN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 377323	NM_020066.5(FMN2):c.953C>T (p.Pro318Leu)	FMN2 (P318L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 741645	NM_020066.5(FMN2):c.1014C>T (p.Pro338=)	FMN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 435218	NM_020066.5(FMN2):c.1030G>A (p.Asp344Asn)	FMN2 (D344N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1675408	NM_020066.5(FMN2):c.1034C>T (p.Thr345Met)	FMN2 (T345M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2467155	NM_020066.5(FMN2):c.1036G>A (p.Asp346Asn)	FMN2 (D346N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441529	NM_020066.5(FMN2):c.1054G>T (p.Asp352Tyr)	FMN2 (D352Y)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 47	GUncertain significance
Select item 736514	NM_020066.5(FMN2):c.1077G>A (p.Arg359=)	FMN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2580492	NM_020066.5(FMN2):c.1097G>A (p.Trp366Ter)	FMN2 (W366*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1307955	NM_020066.5(FMN2):c.1100C>T (p.Ala367Val)	FMN2 (A367V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2234795	NM_020066.5(FMN2):c.1103C>G (p.Pro368Arg)	FMN2 (P368R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221625	NM_020066.5(FMN2):c.1170C>A (p.Asp390Glu)	FMN2 (D390E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095808	NM_020066.5(FMN2):c.1174C>T (p.Pro392Ser)	FMN2 (P392S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713804	NM_020066.5(FMN2):c.1200C>T (p.Ser400=)	FMN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1336344	NM_020066.5(FMN2):c.1208C>T (p.Pro403Leu)	FMN2 (P403L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095809	NM_020066.5(FMN2):c.1220_1222dup (p.Cys407_Phe408insCys)	FMN2	Duplication (inframe_insertion)	Inborn genetic diseases	GUncertain significance
Select item 1298464	NM_020066.5(FMN2):c.1224C>G (p.Phe408Leu)	FMN2 (F408L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1033513	NM_020066.5(FMN2):c.1244C>T (p.Thr415Ile)	FMN2 (T415I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2231416	NM_020066.5(FMN2):c.1258A>G (p.Lys420Glu)	FMN2 (K420E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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