FAM3D[gene] - ClinVar

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

Search results

Items: 34

	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 2375800	NM_138805.3(FAM3D):c.598A>G (p.Ser200Gly)	FAM3D, FAM3D-AS1 (S200G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2405525	NM_138805.3(FAM3D):c.588C>G (p.Phe196Leu)	FAM3D, FAM3D-AS1 (F196L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3277424	NM_138805.3(FAM3D):c.565G>A (p.Gly189Ser)	FAM3D (G189S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3092416	NM_138805.3(FAM3D):c.559C>T (p.Leu187Phe)	FAM3D (L187F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092415	NM_138805.3(FAM3D):c.508G>A (p.Ala170Thr)	FAM3D (A170T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354479	NM_138805.3(FAM3D):c.503C>T (p.Ser168Phe)	FAM3D (S168F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248895	NM_138805.3(FAM3D):c.341T>C (p.Leu114Pro)	FAM3D (L114P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278833	NM_138805.3(FAM3D):c.328A>T (p.Thr110Ser)	FAM3D (T110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227046	NM_138805.3(FAM3D):c.232G>A (p.Val78Met)	FAM3D (V78M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277425	NM_138805.3(FAM3D):c.200C>T (p.Ala67Val)	FAM3D (A67V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786502	NM_138805.3(FAM3D):c.165T>C (p.Cys55=)	FAM3D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2599991	NM_138805.3(FAM3D):c.113G>A (p.Arg38His)	FAM3D (R38H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375130	NM_138805.3(FAM3D):c.103C>T (p.Arg35Cys)	FAM3D (R35C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590241	NM_138805.3(FAM3D):c.71G>A (p.Arg24Gln)	FAM3D (R24Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469328	NM_138805.3(FAM3D):c.37A>G (p.Ile13Val)	FAM3D (I13V)	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: 34