CXXC4-AS1[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 2551833	NM_025212.4(CXXC4):c.632G>C (p.Gly211Ala)	CXXC4, CXXC4-AS1 (G211A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243383	NM_025212.4(CXXC4):c.559G>C (p.Glu187Gln)	CXXC4-AS1, CXXC4 (E187Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2654990	NM_025212.4(CXXC4):c.393T>G (p.Gly131=)	CXXC4, CXXC4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654991	NM_025212.4(CXXC4):c.390T>G (p.Gly130=)	CXXC4, CXXC4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654992	NM_025212.4(CXXC4):c.384C>G (p.Gly128=)	CXXC4, CXXC4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654993	NM_025212.4(CXXC4):c.351T>G (p.Gly117=)	CXXC4, CXXC4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654994	NM_025212.4(CXXC4):c.345G>C (p.Gly115=)	CXXC4-AS1, CXXC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654995	NM_025212.4(CXXC4):c.339C>G (p.Gly113=)	CXXC4, CXXC4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654996	NM_025212.4(CXXC4):c.336C>G (p.Gly112=)	CXXC4, CXXC4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign