ClinVar for Gene (Select 101928099) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3278010	NM_003837.4(FBP2):c.556A>G (p.Met186Val)	FBP2, PCAT7 (M186V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 3278005	NM_003837.4(FBP2):c.563A>T (p.Asp188Val)	FBP2, PCAT7 (D188V)	Single nucleotide variant (missense variant)	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 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 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 3093420	NM_003837.4(FBP2):c.746T>C (p.Met249Thr)	FBP2, PCAT7 (M249T)	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 2620356	NM_003837.4(FBP2):c.635T>C (p.Leu212Pro)	FBP2, PCAT7 (L212P)	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 2494351	NM_003837.4(FBP2):c.779G>C (p.Gly260Ala)	FBP2, PCAT7 (G260A)	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 2316951	NM_003837.4(FBP2):c.545T>A (p.Val182Glu)	FBP2, PCAT7 (V182E)	Single nucleotide variant (missense variant)	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 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 786143	NM_003837.4(FBP2):c.1019A>G (p.Ter340Trp)	FBP2, PCAT7	Single nucleotide variant (stop lost)	not provided	GBenign
Select item 776436	NM_003837.4(FBP2):c.675T>C (p.Thr225=)	FBP2, PCAT7	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +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 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 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 149008	GRCh38/hg38 9q22.31-22.32(chr9:93574616-95115422)x4	AOPEP, BARX1 +76 more	Copy number gain	See cases	GUncertain significance
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 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	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 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 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 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	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

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Links from Gene

Items: 35