CDC27[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 1696853	NM_001256.6(CDC27):c.1777G>A (p.Ala593Thr)	CDC27 (A195T +5 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary artery atresia	GPathogenic
Select item 2647872	NM_001256.6(CDC27):c.1758A>G (p.Ala586=)	CDC27	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 782550	NM_001256.6(CDC27):c.858A>G (p.Pro286=)	CDC27	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 3257195	NM_001256.6(CDC27):c.717A>T (p.Val239=)	CDC27	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2647873	NM_001256.6(CDC27):c.501A>T (p.Thr167=)	CDC27	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3068051	NM_001256.6(CDC27):c.27+2T>C	CDC27	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 691419	NM_001256.6(CDC27):c.4A>G (p.Thr2Ala)	CDC27 (T2A)	Single nucleotide variant (missense variant +2 more)	Esophageal atresia +1 more	GUncertain significance
Select item 2506553	GRCh37/hg19 17q21.32(chr17:44949883-46507482)	CBX1, CDC27 +24 more	Copy number gain	PNPO-related disorder	GLikely pathogenic
Select item 1340686	GRCh37/hg19 17q21.32(chr17:45080707-45281405)x3	CDC27	Copy number gain	not provided	GLikely benign
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 221347	chr17:45008570..45994044 complex variant	CDC27, EFCAB13 +14 more	Complex	Breast ductal adenocarcinoma	GUncertain significance