TAFA3[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 57493	GRCh38/hg38 1p13.2(chr1:112147402-113470058)x3	TAFA3, WNT2B +61 more	Copy number gain	See cases	GUncertain significance
Select item 146756	GRCh38/hg38 1p13.2(chr1:112625023-113046966)x3	CAPZA1, LINC01356 +27 more	Copy number gain	See cases	GLikely benign
Select item 57014	GRCh38/hg38 1p13.2(chr1:112687324-113216458)x3	LINC01356, LINC01357 +32 more	Copy number gain	See cases	GUncertain significance
Select item 3173603	NM_182759.3(TAFA3):c.16G>A (p.Glu6Lys)	TAFA3 (E6K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173609	NM_182759.3(TAFA3):c.37G>A (p.Gly13Ser)	TAFA3 (G13S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3173618	NM_182759.3(TAFA3):c.53T>G (p.Leu18Arg)	TAFA3 (L18R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173619	NM_182759.3(TAFA3):c.62C>A (p.Ala21Asp)	TAFA3 (A21D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173601	NM_182759.3(TAFA3):c.103C>T (p.Pro35Ser)	TAFA3 (P35S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324303	NM_182759.3(TAFA3):c.122T>C (p.Val41Ala)	TAFA3 (V41A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173602	NM_182759.3(TAFA3):c.124C>A (p.Gln42Lys)	TAFA3 (Q42K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3173604	NM_182759.3(TAFA3):c.209C>T (p.Ser70Phe)	TAFA3 (S70F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173605	NM_182759.3(TAFA3):c.259G>A (p.Val87Met)	TAFA3 (V87M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173606	NM_182759.3(TAFA3):c.266-41G>C	TAFA3 (R98P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324302	NM_182759.3(TAFA3):c.266-36G>C	TAFA3 (D100H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3173607	NM_182759.3(TAFA3):c.273C>T (p.Ile91=)	TAFA3 (S114L)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3324301	NM_182759.3(TAFA3):c.310C>G (p.Leu104Val)	TAFA3 (L104V)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3173610	NM_182759.3(TAFA3):c.317G>A (p.Gly106Glu)	TAFA3 (G129R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173611	NM_182759.3(TAFA3):c.320A>C (p.Glu107Ala)	TAFA3 (E107A)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3173612	NM_182759.3(TAFA3):c.338C>T (p.Pro113Leu)	TAFA3 (P113L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173613	NM_182759.3(TAFA3):c.341A>G (p.Asp114Gly)	TAFA3 (D114G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173614	NM_182759.3(TAFA3):c.347C>T (p.Ser116Leu)	TAFA3 (S116L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173615	NM_182759.3(TAFA3):c.365G>A (p.Ser122Asn)	TAFA3 (S122N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568699	NM_182759.3(TAFA3):c.398G>A (p.Arg133Gln)	TAFA3 (D156N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173616	NM_182759.3(TAFA3):c.*14C>T	TAFA3 (R162W)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2622327	NM_182759.3(TAFA3):c.*21G>A	TAFA3 (G164E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 549573	NC_000001.11:g.112796384_112887499dup	CAPZA1, LINC01356 +12 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 3063355	GRCh37/hg19 1p13.2(chr1:113095600-113554789)x3	CAPZA1, MOV10 +5 more	Copy number gain	not specified	GUncertain significance
Select item 2685818	GRCh37/hg19 1p13.2(chr1:113223619-113676753)x3	LRIG2, MOV10 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685817	GRCh37/hg19 1p13.2(chr1:113201375-113571076)x3	CAPZA1, MOV10 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685816	GRCh37/hg19 1p13.2(chr1:113192038-113703255)x3	CAPZA1, LRIG2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2425617	NC_000001.10:g.(?_112318699)_(115576848_?)del	AMPD1, AP4B1 +28 more	Deletion	Hereditary spastic paraplegia 47	GPathogenic
Select item 2424614	NC_000001.10:g.(?_111145905)_(114454813_?)del	ADORA3, AP4B1 +34 more	Deletion	not provided	GPathogenic
Select item 1809109	GRCh37/hg19 1p13.2(chr1:113247034-113775137)x3	LRIG2, PPM1J +3 more	Copy number gain	not provided	GUncertain significance
Select item 1808474	GRCh37/hg19 1p13.2(chr1:113269498-113862415)x3	LRIG2, SLC16A1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 687081	GRCh37/hg19 1p13.2(chr1:113234268-113743303)x3	LRIG2, MOV10 +4 more	Copy number gain	not provided	GUncertain significance
Select item 565140	GRCh37/hg19 1p13.2(chr1:113247033-113784170)x3	LRIG2, SLC16A1 +3 more	Copy number gain	not provided	GLikely benign
Select item 565139	GRCh37/hg19 1p13.2(chr1:113247033-113703255)x3	SLC16A1, TAFA3 +3 more	Copy number gain	not provided	GLikely benign
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 253907	GRCh37/hg19 1p13.2(chr1:113213652-113947403)x3	CAPZA1, MAGI3 +6 more	Copy number gain	See cases	GUncertain significance
Select item 221415	GRCh37/hg19 1p13.2(chr1:113134186-113265713)x3	CAPZA1, MOV10 +4 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 48