ClinVar for Gene (Select 11170) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 2594473	NM_001076778.3(FAM107A):c.26G>A (p.Arg9Gln)	FAM107A (R37Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489871	NM_001076778.3(FAM107A):c.365C>G (p.Pro122Arg)	FAM107A (P153R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398403	NM_001076778.3(FAM107A):c.413C>A (p.Thr138Asn)	FAM107A (T169N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374132	NM_001076778.3(FAM107A):c.35T>C (p.Ile12Thr)	FAM107A (I12T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340663	NM_001076778.3(FAM107A):c.146G>A (p.Arg49Gln)	FAM107A (R49Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326642	NM_001076778.3(FAM107A):c.121T>C (p.Ser41Pro)	FAM107A (S41P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325157	NM_001076778.3(FAM107A):c.209T>A (p.Val70Asp)	FAM107A (V101D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277443	NM_001076778.3(FAM107A):c.67G>C (p.Glu23Gln)	FAM107A (E23Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274527	NM_001076778.3(FAM107A):c.272G>A (p.Arg91Gln)	FAM107A (R119Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241262	NM_001076778.3(FAM107A):c.415A>G (p.Ser139Gly)	FAM107A (S139G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214226	NM_001076778.3(FAM107A):c.362C>T (p.Ala121Val)	FAM107A (A149V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210524	NM_001076778.3(FAM107A):c.307C>T (p.Arg103Trp)	FAM107A (R103W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809355	GRCh37/hg19 3p14.3-14.2(chr3:58498677-60210851)x3	ACOX2, CFAP20DC +3 more	Copy number gain	not provided	GUncertain significance
Select item 1706492	GRCh37/hg19 3p14.3-14.2(chr3:58498676-60210851)x3	FAM3D, CFAP20DC +4 more	Copy number gain	See cases	GUncertain significance
Select item 751950	NM_001076778.3(FAM107A):c.60A>G (p.Glu20=)	FAM107A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687881	GRCh37/hg19 3p14.3-14.2(chr3:58490107-60210773)x3	ACOX2, CFAP20DC +4 more	Copy number gain	not provided	GUncertain significance
Select item 687878	GRCh37/hg19 3p14.3-14.2(chr3:58490107-60210773)x3	ACOX2, CFAP20DC +4 more	Copy number gain	not provided	GUncertain significance
Select item 686195	GRCh37/hg19 3p14.3-14.2(chr3:58490107-60210773)x3	ACOX2, CFAP20DC +4 more	Copy number gain	not provided	GUncertain significance
Select item 685671	GRCh37/hg19 3p14.3-14.1(chr3:57076136-65716956)x1	ABHD6, ACOX2 +34 more	Copy number loss	not provided	GPathogenic
Select item 562773	GRCh37/hg19 3p14.3-14.2(chr3:58544968-58629390)x1	FAM3D, FAM107A	Copy number loss	not provided	GUncertain significance
Select item 562772	GRCh37/hg19 3p14.3-14.2(chr3:58498676-60210851)x3	ACOX2, NPCDR1 +4 more	Copy number gain	not provided	GUncertain significance
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 253794	GRCh37/hg19 3p14.3-14.2(chr3:58494677-60076736)x3	FHIT, NPCDR1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic
Select item 154598	GRCh38/hg38 3p14.3-14.2(chr3:58534847-60199939)x3	ACOX2, CFAP20DC +22 more	Copy number gain	See cases	GUncertain significance
Select item 153923	GRCh38/hg38 3p14.3-14.2(chr3:58498793-60217173)x3	ACOX2, CFAP20DC +23 more	Copy number gain	See cases	GUncertain significance
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	ROBO1, ROBO2 +481 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +154 more	Copy number loss	See cases	GPathogenic
Select item 57730	GRCh38/hg38 3p14.3-14.2(chr3:58532827-60193441)x3	ACOX2, CFAP20DC +22 more	Copy number gain	See cases	GUncertain significance
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +217 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 32