CFAP20DC[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +217 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	ROBO1, ROBO2 +481 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +154 more	Copy number loss	See cases	GPathogenic
Select item 153923	GRCh38/hg38 3p14.3-14.2(chr3:58498793-60217173)x3	ACOX2, CFAP20DC +23 more	Copy number gain	See cases	GUncertain significance
Select item 57730	GRCh38/hg38 3p14.3-14.2(chr3:58532827-60193441)x3	ACOX2, CFAP20DC +22 more	Copy number gain	See cases	GUncertain significance
Select item 154598	GRCh38/hg38 3p14.3-14.2(chr3:58534847-60199939)x3	ACOX2, CFAP20DC +22 more	Copy number gain	See cases	GUncertain significance
Select item 981127	NM_001394063.1(CFAP20DC):c.1534G>A (p.Val512Met)	CFAP20DC, CFAP20DC-AS1 (V202M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 771135	NM_001394063.1(CFAP20DC):c.1252C>G (p.Gln418Glu)	CFAP20DC, CFAP20DC-AS1 (Q213E +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2653922	NM_001394063.1(CFAP20DC):c.1135+4T>G	CFAP20DC, CFAP20DC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 154633	GRCh38/hg38 3p14.2(chr3:58870233-59620738)x3	CFAP20DC, CFAP20DC-AS1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 770534	NM_001394063.1(CFAP20DC):c.780C>T (p.Ile260=)	CFAP20DC, CFAP20DC-AS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 774300	NM_001394063.1(CFAP20DC):c.665G>A (p.Arg222His)	CFAP20DC, CFAP20DC-AS1 (R222H +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 2685081	GRCh37/hg19 3p14.2(chr3:58834020-58915982)x1	CFAP20DC	Copy number loss	not provided	GUncertain significance
Select item 1809355	GRCh37/hg19 3p14.3-14.2(chr3:58498677-60210851)x3	ACOX2, CFAP20DC +3 more	Copy number gain	not provided	GUncertain significance
Select item 1706492	GRCh37/hg19 3p14.3-14.2(chr3:58498676-60210851)x3	FAM3D, CFAP20DC +4 more	Copy number gain	See cases	GUncertain significance
Select item 980504	GRCh37/hg19 3p14.2(chr3:58757175-58934036)x1	CFAP20DC	Copy number loss	not provided	GUncertain significance
Select item 687881	GRCh37/hg19 3p14.3-14.2(chr3:58490107-60210773)x3	ACOX2, CFAP20DC +4 more	Copy number gain	not provided	GUncertain significance
Select item 687878	GRCh37/hg19 3p14.3-14.2(chr3:58490107-60210773)x3	ACOX2, CFAP20DC +4 more	Copy number gain	not provided	GUncertain significance
Select item 686195	GRCh37/hg19 3p14.3-14.2(chr3:58490107-60210773)x3	ACOX2, CFAP20DC +4 more	Copy number gain	not provided	GUncertain significance
Select item 685671	GRCh37/hg19 3p14.3-14.1(chr3:57076136-65716956)x1	ABHD6, ACOX2 +34 more	Copy number loss	not provided	GPathogenic
Select item 562772	GRCh37/hg19 3p14.3-14.2(chr3:58498676-60210851)x3	ACOX2, NPCDR1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +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 253794	GRCh37/hg19 3p14.3-14.2(chr3:58494677-60076736)x3	FHIT, NPCDR1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic

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Items: 26