C3orf52[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ADGRG7, ABHD10 +430 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +397 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC129937263, LOC129937264 +247 more	Copy number gain	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +185 more	Copy number loss	See cases	GPathogenic
Select item 1806469	NM_024616.3(C3orf52):c.34G>T (p.Glu12Ter)	C3orf52 (E12*)	Single nucleotide variant (nonsense)	Hypotrichosis 15	GPathogenic
Select item 1806470	NM_024616.3(C3orf52):c.438_442del (p.Thr148fs)	C3orf52 (T148fs)	Deletion (frameshift variant +1 more)	Hypotrichosis 15	GPathogenic
Select item 2654030	NM_024616.3(C3orf52):c.467+1G>A	C3orf52	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 1806468	NM_024616.3(C3orf52):c.492T>A (p.Tyr164Ter)	C3orf52 (Y164*)	Single nucleotide variant (nonsense +1 more)	Hypotrichosis 15	GPathogenic
Select item 2654031	NM_024616.3(C3orf52):c.649G>A (p.Glu217Lys)	C3orf52 (E217K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2654032	NM_024616.3(C3orf52):c.*13del	C3orf52 (G139fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2377667	NM_024616.3(C3orf52):c.*96T>C	C3orf52 (L166S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205935	NM_024616.3(C3orf52):c.*147G>A	C3orf52 (R183Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377668	NM_024616.3(C3orf52):c.*188A>G	C3orf52 (S197G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403946	NM_024616.3(C3orf52):c.*219A>G	C3orf52 (K207R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361096	NM_152785.5(GCSAM):c.493C>T (p.Arg165Cys)	GCSAM, C3orf52 (R165C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606779	NM_152785.5(GCSAM):c.238T>G (p.Tyr80Asp)	C3orf52, GCSAM (Y82D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381938	NM_152785.5(GCSAM):c.211C>A (p.Pro71Thr)	C3orf52, GCSAM (P56T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621891	NM_152785.5(GCSAM):c.150A>T (p.Lys50Asn)	GCSAM, C3orf52 (K52N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600747	NM_152785.5(GCSAM):c.118G>A (p.Ala40Thr)	C3orf52, GCSAM (A40T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2685090	GRCh37/hg19 3q13.13-13.31(chr3:110398276-113879363)x1	ABHD10, ATG3 +31 more	Copy number loss	not provided	GUncertain significance
Select item 2498335	GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1	ABHD10, ATG3 +34 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 1807773	GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1	ABHD10, ATG3 +49 more	Copy number loss	not provided	GPathogenic
Select item 1703653	GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696)	ABHD10, ATG3 +51 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 814468	GRCh37/hg19 3q12.3-13.2(chr3:101812245-112174485)x1	ABHD10, ALCAM +29 more	Copy number loss	not provided	GPathogenic
Select item 562805	GRCh37/hg19 3q13.13-13.31(chr3:110645295-115103586)x1	ABHD10, ATG3 +34 more	Copy number loss	not provided	GPathogenic
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 393800	GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1	ABHD10, ALCAM +53 more	Copy number loss	See cases	GPathogenic

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Items: 32