8789[geneid] - ClinVar

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Items: 73

	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 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 149008	GRCh38/hg38 9q22.31-22.32(chr9:93574616-95115422)x4	AOPEP, BARX1 +76 more	Copy number gain	See cases	GUncertain significance
Select item 786143	NM_003837.4(FBP2):c.1019A>G (p.Ter340Trp)	FBP2, PCAT7	Single nucleotide variant (stop lost)	not provided	GBenign
Select item 3093422	NM_003837.4(FBP2):c.999G>C (p.Gln333His)	FBP2, PCAT7 (Q333H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3375174	NM_003837.4(FBP2):c.970G>T (p.Asp324Tyr)	FBP2, PCAT7 (D324Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3093421	NM_003837.4(FBP2):c.925G>A (p.Glu309Lys)	FBP2, PCAT7 (E309K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2247909	NM_003837.4(FBP2):c.916G>T (p.Val306Leu)	FBP2, PCAT7 (V306L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278008	NM_003837.4(FBP2):c.895G>C (p.Gly299Arg)	FBP2, PCAT7 (G299R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3257644	NM_003837.4(FBP2):c.836T>C (p.Leu279Pro)	FBP2, PCAT7 (L279P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3278007	NM_003837.4(FBP2):c.830G>T (p.Arg277Leu)	FBP2, PCAT7 (R277L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2494351	NM_003837.4(FBP2):c.779G>C (p.Gly260Ala)	FBP2, PCAT7 (G260A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093420	NM_003837.4(FBP2):c.746T>C (p.Met249Thr)	FBP2, PCAT7 (M249T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776436	NM_003837.4(FBP2):c.675T>C (p.Thr225=)	FBP2, PCAT7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2620356	NM_003837.4(FBP2):c.635T>C (p.Leu212Pro)	FBP2, PCAT7 (L212P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1301656	NM_003837.4(FBP2):c.632G>A (p.Ser211Asn)	FBP2, PCAT7 (S211N)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 3278009	NM_003837.4(FBP2):c.626T>C (p.Ile209Thr)	FBP2, PCAT7 (I209T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278005	NM_003837.4(FBP2):c.563A>T (p.Asp188Val)	FBP2, PCAT7 (D188V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278010	NM_003837.4(FBP2):c.556A>G (p.Met186Val)	FBP2, PCAT7 (M186V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316951	NM_003837.4(FBP2):c.545T>A (p.Val182Glu)	FBP2, PCAT7 (V182E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524357	NM_003837.4(FBP2):c.544G>A (p.Val182Met)	FBP2, PCAT7 (V182M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486325	NM_003837.4(FBP2):c.509G>T (p.Ser170Ile)	FBP2, PCAT7 (S170I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659318	NM_003837.4(FBP2):c.504C>T (p.Tyr168=)	FBP2, PCAT7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2335438	NM_003837.4(FBP2):c.397A>G (p.Ile133Val)	FBP2 (I133V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809604	NM_003837.4(FBP2):c.343G>A (p.Val115Met)	FBP2 (V115M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2616522	NM_003837.4(FBP2):c.341A>G (p.Tyr114Cys)	FBP2 (Y114C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093418	NM_003837.4(FBP2):c.310A>G (p.Ile104Val)	FBP2 (I104V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2673178	NM_003837.4(FBP2):c.257T>C (p.Val86Ala)	FBP2 (V86A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3278006	NM_003837.4(FBP2):c.211G>C (p.Val71Leu)	FBP2 (V71L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278011	NM_003837.4(FBP2):c.88G>A (p.Glu30Lys)	FBP2 (E30K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3252056	NM_003837.4(FBP2):c.68G>A (p.Arg23His)	FBP2 (R23H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2256066	NM_003837.4(FBP2):c.47G>A (p.Arg16His)	FBP2 (R16H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387282	NM_003837.4(FBP2):c.46C>T (p.Arg16Cys)	FBP2 (R16C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618352	NM_003837.4(FBP2):c.41T>C (p.Leu14Pro)	FBP2 (L14P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529005	NM_003837.4(FBP2):c.29A>G (p.Asp10Gly)	FBP2 (D10G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549448	NM_003837.4(FBP2):c.19T>G (p.Phe7Val)	FBP2 (F7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343953	NM_003837.4(FBP2):c.5C>T (p.Thr2Met)	FBP2 (T2M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245073	NC_000009.11:g.(?_97355088)_(97365840_?)del	FBP1, FBP2	Deletion	Fructose-biphosphatase deficiency	GPathogenic
Select item 3063108	GRCh37/hg19 9q22.32(chr9:96614972-98444423)x1	AOPEP, BARX1 +14 more	Copy number loss	not specified	GPathogenic
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 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 1808893	GRCh37/hg19 9q22.32(chr9:97281155-97456120)x1	FBP1, FBP2	Copy number loss	not provided	GUncertain significance
Select item 1808833	GRCh37/hg19 9q22.31-22.32(chr9:95711603-98469214)x1	AOPEP, BARX1 +22 more	Copy number loss	not provided	GPathogenic
Select item 1808810	GRCh37/hg19 9q22.32(chr9:97150648-97477837)x3	FBP1, FBP2 +1 more	Copy number gain	not provided	GUncertain significance
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 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1341973	GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1	ALDOB, ALG2 +87 more	Copy number loss	Gorlin syndrome	GPathogenic
Select item 929316	GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1	TSTD2, XPA +84 more	Copy number loss	See cases	GPathogenic
Select item 873324	Single allele	BARX1, FAM120A +11 more	Duplication	Delayed gross motor development +5 more	GLikely pathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
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 443720	GRCh37/hg19 9q22.32-22.33(chr9:96732332-100175689)x1	AOPEP, CCDC180 +26 more	Copy number loss	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 394717	GRCh37/hg19 9q22.32-22.33(chr9:97355862-99805480)x1	AOPEP, CDC14B +17 more	Copy number loss	See cases	GPathogenic
Select item 393537	GRCh37/hg19 9q22.32(chr9:97290466-97419146)x1	FBP1, FBP2	Copy number loss	VATER association	GLikely benign
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: 73