C3orf38[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 153529	GRCh38/hg38 3p13-11.1(chr3:73824871-90453699)x1	C3orf38, CADM2 +124 more	Copy number loss	See cases	GPathogenic
Select item 155598	GRCh38/hg38 3p12.3-11.1(chr3:74649382-89495681)x1	C3orf38, CADM2 +118 more	Copy number loss	See cases	GPathogenic
Select item 146400	GRCh38/hg38 3p12.3-11.1(chr3:76764260-89682935)x1	C3orf38, CADM2 +89 more	Copy number loss	See cases	GLikely pathogenic
Select item 57802	GRCh38/hg38 3p12.2-11.1(chr3:82912987-90179222)x1	C3orf38, CADM2 +54 more	Copy number loss	See cases	GPathogenic
Select item 150090	GRCh38/hg38 3p11.1(chr3:88034430-88834975)x3	C3orf38, CGGBP1 +11 more	Copy number gain	See cases	GLikely benign
Select item 2242654	NM_173824.4(C3orf38):c.799A>G (p.Lys267Glu)	C3orf38 (K267E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359979	NM_173824.4(C3orf38):c.835A>G (p.Ser279Gly)	C3orf38 (S279G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676304	GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3	ARL13B, ARL6 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 1341090	GRCh37/hg19 3p11.1(chr3:88159133-90502849)x1	C3orf38, CGGBP1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 980019	GRCh37/hg19 3p11.2-11.1(chr3:87877640-88214146)x1	ZNF654, HTR1F +2 more	Copy number loss	not provided	GUncertain significance
Select item 562794	GRCh37/hg19 3p11.1(chr3:87969926-88963355)x3	C3orf38, CGGBP1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +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