"GeneDx"[submitter] AND "CFAP418"[gene] - ClinVar - NCBI

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

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 60383	GRCh38/hg38 8q21.3-22.1(chr8:92283179-95786443)x1	CCNE2, CDH17 +109 more	Copy number loss	See cases	GPathogenic
Select item 60386	GRCh38/hg38 8q21.3-22.1(chr8:92287062-95786443)x1	CCNE2, CDH17 +109 more	Copy number loss	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 943429	NM_177965.4(CFAP418):c.606G>A (p.Trp202Ter)	CFAP418 (W202* +1 more)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 417788	NM_177965.4(CFAP418):c.555G>A (p.Trp185Ter)	CFAP418 (W185* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 1250376	NM_177965.4(CFAP418):c.471-71dup	CFAP418	Duplication (intron variant)	not provided	GBenign
Select item 1180909	NM_177965.4(CFAP418):c.471-71_471-70dup	CFAP418	Duplication (intron variant)	not provided	GBenign
Select item 1190589	NM_177965.4(CFAP418):c.471-57del	CFAP418	Deletion (intron variant)	not provided	GLikely benign
Select item 364000	NM_177965.4(CFAP418):c.450G>A (p.Ser150=)	CFAP418	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1055937	NM_177965.4(CFAP418):c.395G>A (p.Cys132Tyr)	CFAP418 (C132Y)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1267044	NM_177965.4(CFAP418):c.244-31A>G	CFAP418	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 364001	NM_177965.4(CFAP418):c.156-11C>T	CFAP418	Single nucleotide variant (intron variant)	Retinitis pigmentosa +2 more	GBenign/Likely benign
Select item 364002	NM_177965.4(CFAP418):c.55C>G (p.Pro19Ala)	CFAP418, CFAP418-AS1 +1 more (P19A)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 1285978	NC_000008.11:g.95269256_95269266dup	CFAP418, CFAP418-AS1	Duplication	not provided	GBenign
Select item 1250011	NC_000008.11:g.95269264G>T	CFAP418, CFAP418-AS1	Single nucleotide variant	not provided	GBenign