PCAT7[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	LOC130002043, LOC130002044 +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	LOC126860637, LOC126860638 +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 2247909	NM_003837.4(FBP2):c.916G>T (p.Val306Leu)	FBP2, PCAT7 (V306L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494351	NM_003837.4(FBP2):c.779G>C (p.Gly260Ala)	FBP2, PCAT7 (G260A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	PCAT7, FBP2 (L212P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1301656	NM_003837.4(FBP2):c.632G>A (p.Ser211Asn)	FBP2, PCAT7 (S211N)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2316951	NM_003837.4(FBP2):c.545T>A (p.Val182Glu)	FBP2, PCAT7 (V182E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524357	NM_003837.4(FBP2):c.544G>A (p.Val182Met)	FBP2, PCAT7 (V182M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486325	NM_003837.4(FBP2):c.509G>T (p.Ser170Ile)	FBP2, PCAT7 (S170I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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

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Items: 25