"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CFAP74"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2638065	NM_001304360.2(CFAP74):c.4809G>A (p.Ala1603=)	CFAP74	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638066	NM_001304360.2(CFAP74):c.4473C>T (p.Pro1491=)	CFAP74	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638067	NM_001304360.2(CFAP74):c.4051G>A (p.Val1351Ile)	CFAP74 (V1351I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638068	NM_001304360.2(CFAP74):c.3296T>G (p.Leu1099Arg)	CFAP74 (L1099R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443737	NM_001304360.2(CFAP74):c.1706dup (p.Gly570fs)	CFAP74 (G570fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2578557	NM_001304360.2(CFAP74):c.785+1G>A	CFAP74	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2638069	NM_001304360.2(CFAP74):c.612G>T (p.Glu204Asp)	CFAP74 (E204D)	Single nucleotide variant (missense variant)	CFAP74-related condition +1 more	GLikely benign
Select item 2640261	GRCh37/hg19 1p36.33(chr1:1569581-2005714)x1	NADK, PRKCZ +10 more	Copy number loss	not provided	GLikely pathogenic
Select item 2570762	GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	TMEM88B, TNFRSF14 +79 more	Copy number loss	not provided	GPathogenic

ClinVar