ClinVar for Gene (Select 164633) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262656	NM_182527.3(CABP7):c.111G>T (p.Glu37Asp)	CABP7 (E37D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262653	NM_182527.3(CABP7):c.249G>A (p.Met83Ile)	CABP7 (M83I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136254	NM_182527.3(CABP7):c.251A>G (p.Asp84Gly)	CABP7 (D84G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136253	NM_182527.3(CABP7):c.211G>A (p.Glu71Lys)	CABP7 (E71K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684936	GRCh37/hg19 22q12.2(chr22:29986551-30157699)x3	CABP7, NF2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2507621	NM_182527.3(CABP7):c.403C>T (p.Arg135Trp)	CABP7 (R135W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495818	NM_182527.3(CABP7):c.496G>A (p.Glu166Lys)	CABP7 (E166K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494603	NM_182527.3(CABP7):c.383T>C (p.Leu128Pro)	CABP7 (L128P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475101	NM_182527.3(CABP7):c.320T>A (p.Ile107Asn)	CABP7 (I107N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393892	NM_182527.3(CABP7):c.370G>A (p.Asp124Asn)	CABP7 (D124N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387889	NM_001003692.2(ZMAT5):c.460C>T (p.Arg154Trp)	CABP7, ZMAT5 (R154W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2365293	NM_182527.3(CABP7):c.551G>A (p.Cys184Tyr)	CABP7 (C184Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333381	NM_001003692.2(ZMAT5):c.424G>T (p.Gly142Cys)	CABP7, ZMAT5 (G142C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2283418	NM_182527.3(CABP7):c.531C>A (p.Asn177Lys)	CABP7 (N177K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277893	NM_182527.3(CABP7):c.148A>G (p.Asn50Asp)	CABP7 (N50D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260165	NM_182527.3(CABP7):c.641T>A (p.Met214Lys)	CABP7 (M214K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230449	NM_182527.3(CABP7):c.386C>T (p.Thr129Met)	CABP7 (T129M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526730	GRCh37/hg19 22q12.2(chr22:30021252-30305283)	ASCC2, CABP7 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	AP1B1, ASCC2 +71 more	Duplication	not provided	GUncertain significance
Select item 1076756	NC_000022.10:g.(?_29105984)_(30337586_?)del	AP1B1, ASCC2 +22 more	Deletion	Familial cancer of breast	GPathogenic
Select item 1076222	NC_000022.10:g.(?_29083885)_(30337586_?)del	AP1B1, ASCC2 +22 more	Deletion	Neurofibromatosis, type 2	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 979602	GRCh37/hg19 22q12.1-12.2(chr22:28291202-30450920)x1	AP1B1, ASCC2 +24 more	Copy number loss	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 634999	inv(22)(q12.2q12.2)	NEFH, PIK3IP1 +42 more	Inversion	Anaplastic ependymoma	GLikely pathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 565022	GRCh37/hg19 22q12.2(chr22:29644625-31051719)x1	AP1B1, ASCC2 +32 more	Copy number loss	not provided	GPathogenic
Select item 442415	GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3	DEPDC5, DRG1 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59074	GRCh38/hg38 22q12.1-12.2(chr22:28441035-30276511)x1	AP1B1, ASCC2 +89 more	Copy number loss	See cases	GPathogenic
Select item 57489	GRCh38/hg38 22q12.2(chr22:29281920-29878399)x3	AP1B1, ASCC2 +28 more	Copy number gain	See cases	GUncertain significance
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 43