ClinVar for Gene (Select 80319) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270431	NM_025212.4(CXXC4):c.550T>C (p.Cys184Arg)	CXXC4, CXXC4-AS1 (C184R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270430	NM_025212.4(CXXC4):c.553C>T (p.Pro185Ser)	CXXC4, CXXC4-AS1 (P185S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079232	NM_025212.4(CXXC4):c.841C>T (p.Pro281Ser)	CXXC4 (P281S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062772	GRCh37/hg19 4q23-25(chr4:100172302-107880077)x1	ADH1A, ADH1B +34 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3062757	GRCh37/hg19 4q23-24(chr4:99355670-107274288)x1	ADH1A, ADH1B +39 more	Copy number loss	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2654996	NM_025212.4(CXXC4):c.336C>G (p.Gly112=)	CXXC4, CXXC4-AS1	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 2654994	NM_025212.4(CXXC4):c.345G>C (p.Gly115=)	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 2654992	NM_025212.4(CXXC4):c.384C>G (p.Gly128=)	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 2654990	NM_025212.4(CXXC4):c.393T>G (p.Gly131=)	CXXC4, CXXC4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2551833	NM_025212.4(CXXC4):c.632G>C (p.Gly211Ala)	CXXC4, CXXC4-AS1 (G211A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445492	NC_000004.11:g.(?_101947022)_(107268849_?)dup	AIMP1, ARHGEF38 +19 more	Duplication	not provided	GUncertain significance
Select item 2424810	NC_000004.11:g.(?_101947022)_(106061534_?)del	TACR3, CISD2 +11 more	Deletion	not provided	GPathogenic
Select item 2243383	NM_025212.4(CXXC4):c.559G>C (p.Glu187Gln)	CXXC4, CXXC4-AS1 (E187Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340302	GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3	ADH1A, ADH1B +55 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 814592	GRCh37/hg19 4q24(chr4:103865132-105720367)x1	TACR3, SLC9B2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 562950	GRCh37/hg19 4q24(chr4:104424933-105435071)x1	TACR3, CXXC4	Copy number loss	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 28