CAMP[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 57728	GRCh38/hg38 3p21.31(chr3:47867990-48259991)x3	CAMP, CDC25A +19 more	Copy number gain	See cases	GUncertain significance
Select item 2302119	NM_004345.5(CAMP):c.119T>C (p.Leu40Pro)	CAMP (L40P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708654	NM_004345.5(CAMP):c.282A>G (p.Pro94=)	CAMP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 756687	NM_004345.5(CAMP):c.345_351del (p.Asn115fs)	CAMP (N115fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 733963	NM_004345.5(CAMP):c.434A>G (p.Lys145Arg)	CAMP (K145R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3247055	NC_000003.11:g.(?_47894522)_(49060605_?)del	ARIH2, ARIH2OS +29 more	Deletion	not provided	GUncertain significance
Select item 2685919	GRCh37/hg19 3p21.31(chr3:48115216-48391839)x3	CAMP, CDC25A +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685917	GRCh37/hg19 3p21.31(chr3:47720958-48490193)x3	ATRIP, CAMP +11 more	Copy number gain	not provided	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	CCR1, CCR2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 687533	GRCh37/hg19 3p21.31(chr3:47799614-48359988)x3	CAMP, CDC25A +6 more	Copy number gain	not provided	GUncertain significance
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic