FPGS[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 663424	NC_000009.11:g.(?_130216797)_(130953151_?)dup	LOC108281127, LOC113839508 +93 more	Duplication	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 662282	NC_000009.12:g.(?_127612384)_(128566997_?)del	LOC130002704, LOC130002705 +130 more	Deletion	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GPathogenic
Select item 2386449	NM_004957.6(FPGS):c.11C>T (p.Ala4Val)	FPGS, LOC130002663 (A4V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466737	NM_004957.6(FPGS):c.13C>T (p.Arg5Trp)	FPGS, LOC130002663 (R5W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096637	NM_004957.6(FPGS):c.19C>T (p.His7Tyr)	FPGS, LOC130002663 (H7Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1232138	NM_004957.6(FPGS):c.64A>G (p.Ile22Val)	FPGS, LOC130002663 (I22V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2216771	NM_004957.6(FPGS):c.77T>G (p.Val26Gly)	FPGS, LOC130002663 (V26G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387790	NM_004957.6(FPGS):c.88C>T (p.Arg30Trp)	FPGS, LOC130002663 (R30W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373825	NM_004957.6(FPGS):c.89G>A (p.Arg30Gln)	FPGS, LOC130002663 (R30Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593860	NM_004957.6(FPGS):c.149G>A (p.Arg50His)	FPGS (R50H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3096638	NM_004957.6(FPGS):c.203A>C (p.Gln68Pro)	FPGS (Q18P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096639	NM_004957.6(FPGS):c.236T>C (p.Met79Thr)	FPGS (M79T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212026	NM_004957.6(FPGS):c.341C>T (p.Thr114Met)	FPGS (T114M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279706	NM_004957.6(FPGS):c.374C>T (p.Thr125Met)	FPGS (T125M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279707	NM_004957.6(FPGS):c.568C>T (p.Leu190Phe)	FPGS (L140F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3096640	NM_004957.6(FPGS):c.812A>G (p.Gln271Arg)	FPGS (Q245R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349029	NM_004957.6(FPGS):c.996G>C (p.Arg332Ser)	FPGS (R282S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096635	NM_004957.6(FPGS):c.1007T>C (p.Leu336Pro)	FPGS (L336P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456699	NM_004957.6(FPGS):c.1158G>C (p.Gln386His)	FPGS (Q386H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279704	NM_004957.6(FPGS):c.1181A>G (p.Gln394Arg)	FPGS (Q394R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2248900	NM_004957.6(FPGS):c.1183G>A (p.Ala395Thr)	FPGS (A345T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522171	NM_004957.6(FPGS):c.1247C>T (p.Thr416Ile)	FPGS (T390I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275049	NM_004957.6(FPGS):c.1309G>A (p.Val437Ile)	FPGS (V411I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3341528	NM_004957.6(FPGS):c.1396C>T (p.Arg466Cys)	FPGS (R416C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2321751	NM_004957.6(FPGS):c.1483G>A (p.Gly495Ser)	FPGS (G445S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353755	NM_004957.6(FPGS):c.1492G>A (p.Ala498Thr)	FPGS (A498T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2374951	NM_004957.6(FPGS):c.1507G>A (p.Ala503Thr)	FPGS (A477T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279705	NM_004957.6(FPGS):c.1511C>G (p.Pro504Arg)	FPGS (P454R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096636	NM_004957.6(FPGS):c.1627G>A (p.Gly543Ser)	FPGS (G517S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318104	NM_004957.6(FPGS):c.1660G>C (p.Ala554Pro)	FPGS (A504P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245119	NC_000009.11:g.(?_130374683)_(131329276_?)del	AK1, BBLN +32 more	Deletion	Developmental and epileptic encephalopathy, 31A +1 more	GPathogenic
Select item 3245057	NC_000009.11:g.(?_130216807)_(133557056_?)dup	ASS1, AK1 +70 more	Duplication	Dystonic disorder	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1527562	GRCh37/hg19 9q34.11(chr9:130390139-132760275)	AK1, ASB6 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527560	GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795)	AK1, ANGPTL2 +29 more	Copy number loss	not specified	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1457478	NC_000009.11:g.(?_130216807)_(130953136_?)del	AK1, BBLN +22 more	Deletion	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GPathogenic
Select item 1340206	GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3	AK1, ANGPTL2 +75 more	Copy number gain	not provided	GPathogenic
Select item 1056169	NC_000009.11:g.(?_129376729)_(131016993_?)del	AK1, ANGPTL2 +33 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 984763	GRCh37/hg19 9q34.11(chr9:130412438-131423964)x1	COQ4, DNM1 +33 more	Copy number loss	Infantile epilepsy syndrome	GPathogenic
Select item 983307	GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1	AK1, ANGPTL2 +27 more	Copy number loss	Developmental and epileptic encephalopathy, 4 +1 more	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 65