ClinVar for Gene (Select 5738) - ClinVar

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Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311307	NM_020440.4(PTGFRN):c.1615G>T (p.Val539Phe)	PTGFRN (V539F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311306	NM_020440.4(PTGFRN):c.1926G>A (p.Met642Ile)	PTGFRN (M642I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311305	NM_020440.4(PTGFRN):c.1031C>T (p.Pro344Leu)	PTGFRN (P344L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311304	NM_020440.4(PTGFRN):c.1408G>T (p.Asp470Tyr)	PTGFRN (D470Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311303	NM_020440.4(PTGFRN):c.452C>T (p.Ala151Val)	PTGFRN (A151V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311302	NM_020440.4(PTGFRN):c.64C>T (p.Arg22Cys)	PTGFRN (R22C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311301	NM_020440.4(PTGFRN):c.1301C>T (p.Thr434Met)	PTGFRN (T434M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3220768	NM_020440.4(PTGFRN):c.929G>A (p.Arg310Gln)	PTGFRN (R310Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220767	NM_020440.4(PTGFRN):c.859G>A (p.Val287Met)	PTGFRN (V287M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220766	NM_020440.4(PTGFRN):c.412G>T (p.Val138Phe)	PTGFRN (V138F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220765	NM_020440.4(PTGFRN):c.38T>C (p.Leu13Pro)	PTGFRN (L13P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220764	NM_020440.4(PTGFRN):c.325G>T (p.Val109Phe)	PTGFRN (V109F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220763	NM_020440.4(PTGFRN):c.2634G>T (p.Met878Ile)	PTGFRN (M878I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220762	NM_020440.4(PTGFRN):c.2612G>A (p.Arg871His)	PTGFRN (R871H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220761	NM_020440.4(PTGFRN):c.2599C>G (p.Arg867Gly)	PTGFRN (R867G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220760	NM_020440.4(PTGFRN):c.2574T>G (p.Cys858Trp)	PTGFRN (C858W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220759	NM_020440.4(PTGFRN):c.2356C>G (p.Gln786Glu)	PTGFRN (Q786E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220758	NM_020440.4(PTGFRN):c.2296C>T (p.Leu766Phe)	PTGFRN (L766F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220757	NM_020440.4(PTGFRN):c.2246T>G (p.Leu749Arg)	PTGFRN (L749R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220756	NM_020440.4(PTGFRN):c.2177C>T (p.Ala726Val)	PTGFRN (A726V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220755	NM_020440.4(PTGFRN):c.1456G>A (p.Gly486Arg)	PTGFRN (G486R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220754	NM_020440.4(PTGFRN):c.143A>T (p.Tyr48Phe)	PTGFRN (Y48F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220753	NM_020440.4(PTGFRN):c.1405G>A (p.Gly469Arg)	PTGFRN (G469R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220752	NM_020440.4(PTGFRN):c.1325G>A (p.Arg442Gln)	PTGFRN (R442Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220751	NM_020440.4(PTGFRN):c.1255G>A (p.Gly419Arg)	PTGFRN (G419R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220749	NM_020440.4(PTGFRN):c.1121A>T (p.His374Leu)	PTGFRN (H374L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220748	NM_020440.4(PTGFRN):c.1007G>A (p.Arg336His)	PTGFRN (R336H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063011	GRCh37/hg19 1p13.1-12(chr1:117338180-117990154)x1	CD101, MAN1A2 +4 more	Copy number loss	not specified	GUncertain significance
Select item 2617929	NM_020440.4(PTGFRN):c.2599C>T (p.Arg867Trp)	PTGFRN (R867W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605026	NM_020440.4(PTGFRN):c.1502G>A (p.Arg501Gln)	PTGFRN (R501Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596096	NM_020440.4(PTGFRN):c.941C>T (p.Thr314Met)	PTGFRN (T314M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595191	NM_020440.4(PTGFRN):c.2389C>T (p.Pro797Ser)	PTGFRN (P797S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552655	NM_020440.4(PTGFRN):c.2206T>A (p.Ser736Thr)	PTGFRN (S736T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539340	NM_020440.4(PTGFRN):c.1549G>T (p.Val517Leu)	PTGFRN (V517L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532946	NM_020440.4(PTGFRN):c.2588T>C (p.Val863Ala)	PTGFRN (V863A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527962	NM_020440.4(PTGFRN):c.2101G>C (p.Val701Leu)	PTGFRN (V701L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514535	NM_020440.4(PTGFRN):c.461C>G (p.Pro154Arg)	PTGFRN (P154R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491571	NM_020440.4(PTGFRN):c.607G>A (p.Gly203Ser)	PTGFRN (G203S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490413	NM_020440.4(PTGFRN):c.104T>C (p.Val35Ala)	PTGFRN (V35A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489598	NM_020440.4(PTGFRN):c.937G>T (p.Val313Leu)	PTGFRN (V313L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483469	NM_020440.4(PTGFRN):c.646C>G (p.His216Asp)	PTGFRN (H216D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477786	NM_020440.4(PTGFRN):c.841G>T (p.Ala281Ser)	PTGFRN (A281S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472137	NM_020440.4(PTGFRN):c.1358G>A (p.Arg453Gln)	PTGFRN (R453Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457768	NM_020440.4(PTGFRN):c.1992G>C (p.Arg664Ser)	PTGFRN (R664S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454773	NM_020440.4(PTGFRN):c.731C>T (p.Ser244Phe)	PTGFRN (S244F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408332	NM_020440.4(PTGFRN):c.2273C>T (p.Ser758Phe)	PTGFRN (S758F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391583	NM_020440.4(PTGFRN):c.797C>T (p.Ala266Val)	PTGFRN (A266V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382709	NM_020440.4(PTGFRN):c.514G>A (p.Ala172Thr)	PTGFRN (A172T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370676	NM_020440.4(PTGFRN):c.1570C>T (p.Arg524Trp)	PTGFRN (R524W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364931	NM_020440.4(PTGFRN):c.2611C>T (p.Arg871Cys)	PTGFRN (R871C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363632	NM_020440.4(PTGFRN):c.1057G>A (p.Ala353Thr)	PTGFRN (A353T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360936	NM_020440.4(PTGFRN):c.1645G>A (p.Val549Met)	PTGFRN (V549M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354515	NM_020440.4(PTGFRN):c.397G>C (p.Glu133Gln)	PTGFRN (E133Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306516	NM_020440.4(PTGFRN):c.243G>T (p.Gln81His)	PTGFRN (Q81H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298232	NM_020440.4(PTGFRN):c.1124T>C (p.Val375Ala)	PTGFRN (V375A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284492	NM_020440.4(PTGFRN):c.1384G>A (p.Glu462Lys)	PTGFRN (E462K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283699	NM_020440.4(PTGFRN):c.1177G>A (p.Val393Met)	PTGFRN (V393M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2275752	NM_020440.4(PTGFRN):c.988G>A (p.Val330Met)	PTGFRN (V330M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273977	NM_020440.4(PTGFRN):c.1055A>G (p.Asp352Gly)	PTGFRN (D352G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268924	NM_020440.4(PTGFRN):c.650G>A (p.Ser217Asn)	PTGFRN (S217N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267293	NM_020440.4(PTGFRN):c.1370A>G (p.Asn457Ser)	PTGFRN (N457S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259624	NM_020440.4(PTGFRN):c.1822C>A (p.Leu608Met)	PTGFRN (L608M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255785	NM_020440.4(PTGFRN):c.574G>C (p.Ala192Pro)	PTGFRN (A192P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242952	NM_020440.4(PTGFRN):c.1393G>A (p.Ala465Thr)	PTGFRN (A465T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242097	NM_020440.4(PTGFRN):c.760G>A (p.Ala254Thr)	PTGFRN (A254T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238154	NM_020440.4(PTGFRN):c.655G>T (p.Asp219Tyr)	PTGFRN (D219Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233312	NM_020440.4(PTGFRN):c.496G>A (p.Glu166Lys)	PTGFRN (E166K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221003	NM_020440.4(PTGFRN):c.2084A>G (p.His695Arg)	PTGFRN (H695R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218639	NM_020440.4(PTGFRN):c.1151G>T (p.Arg384Met)	PTGFRN (R384M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215151	NM_020440.4(PTGFRN):c.701T>C (p.Val234Ala)	PTGFRN (V234A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204530	NM_020440.4(PTGFRN):c.871G>A (p.Glu291Lys)	PTGFRN (E291K)	Single nucleotide variant (missense variant)	not specified	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 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 775589	NM_020440.4(PTGFRN):c.1542C>T (p.Tyr514=)	PTGFRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775588	NM_020440.4(PTGFRN):c.462G>A (p.Pro154=)	PTGFRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 738560	NM_020440.4(PTGFRN):c.2040G>A (p.Glu680=)	PTGFRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738559	NM_020440.4(PTGFRN):c.1839G>T (p.Val613=)	PTGFRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733805	NM_020440.4(PTGFRN):c.2310C>T (p.Arg770=)	PTGFRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 733804	NM_020440.4(PTGFRN):c.294C>T (p.Ala98=)	PTGFRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726015	NM_020440.4(PTGFRN):c.685G>A (p.Ala229Thr)	PTGFRN (A229T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 710498	NM_020440.4(PTGFRN):c.725A>G (p.Gln242Arg)	PTGFRN (Q242R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 565143	GRCh37/hg19 1p13.1(chr1:117180331-117489298)x1	IGSF3, PTGFRN +1 more	Copy number loss	not provided	GUncertain significance
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 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 148763	GRCh38/hg38 1p13.1-12(chr1:116752007-117309842)x3	CD101, CD101-AS1 +26 more	Copy number gain	See cases	GUncertain significance
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 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 57384	GRCh38/hg38 1p13.1-12(chr1:116679122-119290029)x1	CD101, CD101-AS1 +67 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 90