24593[HGNC] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
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 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 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 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 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 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, 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 2654996	NM_025212.4(CXXC4):c.336C>G (p.Gly112=)	CXXC4, CXXC4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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

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Items: 28