FAM107A[gene] - ClinVar

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

Search results

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic
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 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +155 more	Copy number loss	See cases	GPathogenic
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 57730	GRCh38/hg38 3p14.3-14.2(chr3:58532827-60193441)x3	FAM3D-AS1, ACOX2 +22 more	Copy number gain	See cases	GUncertain significance
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 3091623	NM_001076778.3(FAM107A):c.417C>G (p.Ser139Arg)	FAM107A (S170R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091622	NM_001076778.3(FAM107A):c.416G>T (p.Ser139Ile)	FAM107A (S170I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241262	NM_001076778.3(FAM107A):c.415A>G (p.Ser139Gly)	FAM107A (S139G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398403	NM_001076778.3(FAM107A):c.413C>A (p.Thr138Asn)	FAM107A (T169N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489871	NM_001076778.3(FAM107A):c.365C>G (p.Pro122Arg)	FAM107A (P153R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214226	NM_001076778.3(FAM107A):c.362C>T (p.Ala121Val)	FAM107A (A149V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210524	NM_001076778.3(FAM107A):c.307C>T (p.Arg103Trp)	FAM107A (R103W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274527	NM_001076778.3(FAM107A):c.272G>A (p.Arg91Gln)	FAM107A (R119Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325157	NM_001076778.3(FAM107A):c.209T>A (p.Val70Asp)	FAM107A (V101D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340663	NM_001076778.3(FAM107A):c.146G>A (p.Arg49Gln)	FAM107A (R49Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091621	NM_001076778.3(FAM107A):c.125G>A (p.Arg42Gln)	FAM107A (R42Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326642	NM_001076778.3(FAM107A):c.121T>C (p.Ser41Pro)	FAM107A (S41P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277443	NM_001076778.3(FAM107A):c.67G>C (p.Glu23Gln)	FAM107A (E23Q +2 more)	Single nucleotide variant (missense variant)	not specified	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 3091624	NM_001076778.3(FAM107A):c.47T>G (p.Met16Arg)	FAM107A (M16R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374132	NM_001076778.3(FAM107A):c.35T>C (p.Ile12Thr)	FAM107A (I12T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594473	NM_001076778.3(FAM107A):c.26G>A (p.Arg9Gln)	FAM107A (R37Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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	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
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 36