CFAP107[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 153434	GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3	AADACL3, AADACL4 +209 more	Copy number gain	See cases	GLikely pathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 57721	GRCh38/hg38 1p36.22-36.21(chr1:11654070-12768656)x3	C1orf167-AS1, AADACL3 +104 more	Copy number gain	See cases	GUncertain significance
Select item 153514	GRCh38/hg38 1p36.22-36.21(chr1:12264268-13119398)x3	AADACL3, AADACL4 +34 more	Copy number gain	See cases	GUncertain significance
Select item 146143	GRCh38/hg38 1p36.22-36.21(chr1:12293275-13111197)x3	AADACL3, AADACL4 +32 more	Copy number gain	See cases	GBenign
Select item 148967	GRCh38/hg38 1p36.21(chr1:12627415-13993978)x3	AADACL3, AADACL4 +49 more	Copy number gain	See cases	GLikely pathogenic
Select item 147067	GRCh38/hg38 1p36.21(chr1:12666714-13181499)x3	AADACL3, AADACL4 +21 more	Copy number gain	See cases	GBenign
Select item 148652	GRCh38/hg38 1p36.21-36.13(chr1:12724785-16034788)x1	AADACL3, AGMAT +151 more	Copy number loss	See cases	GPathogenic
Select item 3143298	NM_152290.4(CFAP107):c.343C>T (p.Arg115Cys)	CFAP107 (R115C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143299	NM_152290.4(CFAP107):c.416A>G (p.Asn139Ser)	CFAP107 (N101S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143301	NM_152290.4(CFAP107):c.539C>T (p.Ala180Val)	CFAP107 (A180V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 980396	GRCh37/hg19 1p36.22-36.21(chr1:12690931-12910728)x4	HNRNPCL1, PRAMEF11 +5 more	Copy number gain	not provided	GUncertain significance
Select item 685664	GRCh37/hg19 1p36.22-36.21(chr1:10246640-12841900)x1	AADACL3, AADACL4 +38 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625539	GRCh37/hg19 1p36.22-36.21(chr1:11690766-12835739)	AADACL3, AADACL4 +21 more	Copy number loss	not provided	GPathogenic
Select item 599310	Single allele	AADACL3, AADACL4 +11 more	Deletion	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 443150	GRCh37/hg19 1p36.22-36.21(chr1:10722725-14267773)x1	AADACL3, AADACL4 +53 more	Copy number loss	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442266	GRCh37/hg19 1p36.22-36.21(chr1:11143298-13709344)x3	AADACL3, AADACL4 +43 more	Copy number gain	See cases	GUncertain significance
Select item 441991	GRCh37/hg19 1p36.22-36.21(chr1:10722955-12910774)x1	AADACL3, AADACL4 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 441913	GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	AADACL3, AADACL4 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 441828	GRCh37/hg19 1p36.22-36.21(chr1:12326304-12841900)x3	AADACL3, AADACL4 +4 more	Copy number gain	See cases	GLikely benign
Select item 395144	GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	AADACL3, AADACL4 +96 more	Copy number loss	See cases	GPathogenic
Select item 395059	GRCh37/hg19 1p36.22-36.21(chr1:12357424-13187457)x3	AADACL3, AADACL4 +14 more	Copy number gain	See cases	GLikely benign
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 47