ClinVar for Gene (Select 131177) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
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 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 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 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 2375130	NM_138805.3(FAM3D):c.103C>T (p.Arg35Cys)	FAM3D (R35C)	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 2278833	NM_138805.3(FAM3D):c.328A>T (p.Thr110Ser)	FAM3D (T110S)	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 2227046	NM_138805.3(FAM3D):c.232G>A (p.Val78Met)	FAM3D (V78M)	Single nucleotide variant (missense variant)	not specified	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 786502	NM_138805.3(FAM3D):c.165T>C (p.Cys55=)	FAM3D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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
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	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 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 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 34