Related gene-specific medical variations for Gene (Select 100129845) - ClinVar

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

Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278113	NM_033506.3(FBXO24):c.40-204G>A	FBXO24, PCOLCE-AS1 (G45R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 3278111	NM_033506.3(FBXO24):c.1360G>A (p.Val454Ile)	FBXO24, PCOLCE-AS1 (V492I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3278110	NM_033506.3(FBXO24):c.359G>A (p.Arg120His)	FBXO24, PCOLCE-AS1 (R108H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278109	NM_033506.3(FBXO24):c.68C>T (p.Ser23Leu)	FBXO24, PCOLCE-AS1 (S61L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3210408	NM_002593.4(PCOLCE):c.72G>C (p.Gln24His)	PCOLCE, PCOLCE-AS1 (Q24H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3210406	NM_002593.4(PCOLCE):c.262C>G (p.Pro88Ala)	PCOLCE, PCOLCE-AS1 (P88A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3210405	NM_002593.4(PCOLCE):c.212A>G (p.Glu71Gly)	PCOLCE, PCOLCE-AS1 (E71G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3210404	NM_002593.4(PCOLCE):c.20C>A (p.Ala7Asp)	PCOLCE, PCOLCE-AS1 (A7D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3210403	NM_002593.4(PCOLCE):c.192C>G (p.Ile64Met)	PCOLCE, PCOLCE-AS1 (I64M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210402	NM_002593.4(PCOLCE):c.179A>G (p.Asn60Ser)	PCOLCE, PCOLCE-AS1 (N60S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093631	NM_033506.3(FBXO24):c.884C>T (p.Ser295Phe)	FBXO24, PCOLCE-AS1 (S283F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093630	NM_033506.3(FBXO24):c.680A>G (p.Tyr227Cys)	FBXO24, PCOLCE-AS1 (Y227C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3093629	NM_033506.3(FBXO24):c.586G>A (p.Val196Ile)	FBXO24, PCOLCE-AS1 (V234I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093628	NM_033506.3(FBXO24):c.527G>T (p.Arg176Leu)	FBXO24, PCOLCE-AS1 (R214L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093627	NM_033506.3(FBXO24):c.511T>C (p.Trp171Arg)	FBXO24, PCOLCE-AS1 (W159R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093626	NM_033506.3(FBXO24):c.228A>C (p.Glu76Asp)	FBXO24, PCOLCE-AS1 (E76D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3093625	NM_033506.3(FBXO24):c.40-311G>T	FBXO24, PCOLCE-AS1 (R9L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3093623	NM_033506.3(FBXO24):c.1684A>G (p.Met562Val)	FBXO24, PCOLCE-AS1 (M562V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3093622	NM_033506.3(FBXO24):c.1538G>A (p.Gly513Glu)	FBXO24, PCOLCE-AS1 (G513E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093621	NM_033506.3(FBXO24):c.1533C>A (p.Asp511Glu)	FBXO24, PCOLCE-AS1 (D499E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093620	NM_033506.3(FBXO24):c.1322G>A (p.Gly441Asp)	FBXO24, PCOLCE-AS1 (G441D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2624105	NM_033506.3(FBXO24):c.1049C>T (p.Pro350Leu)	FBXO24, PCOLCE-AS1 (P338L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600077	NM_033506.3(FBXO24):c.40-200G>A	FBXO24, PCOLCE-AS1 (R46Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2596486	NM_033506.3(FBXO24):c.527G>A (p.Arg176His)	FBXO24, PCOLCE-AS1 (R164H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557479	NM_033506.3(FBXO24):c.123G>T (p.Leu41Phe)	FBXO24, PCOLCE-AS1 (L79F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2555038	NM_033506.3(FBXO24):c.131C>A (p.Pro44Gln)	FBXO24, PCOLCE-AS1 (P82Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2538972	NM_033506.3(FBXO24):c.1159G>A (p.Gly387Arg)	FBXO24, PCOLCE-AS1 (G387R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532700	NM_033506.3(FBXO24):c.560T>G (p.Phe187Cys)	FBXO24, PCOLCE-AS1 (F187C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510352	NM_033506.3(FBXO24):c.1365G>C (p.Lys455Asn)	FBXO24, PCOLCE-AS1 (K493N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2509427	NM_033506.3(FBXO24):c.40-302A>G	FBXO24, PCOLCE-AS1 (Q12R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2482614	NM_033506.3(FBXO24):c.1537G>A (p.Gly513Arg)	FBXO24, PCOLCE-AS1 (G501R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468607	NM_033506.3(FBXO24):c.40-306G>C	FBXO24, PCOLCE-AS1 (G11R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2462341	NM_033506.3(FBXO24):c.1000G>A (p.Asp334Asn)	FBXO24, PCOLCE-AS1 (D334N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459492	NM_033506.3(FBXO24):c.40-311G>C	FBXO24, PCOLCE-AS1 (R9P)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 2455328	NM_033506.3(FBXO24):c.40-275G>A	FBXO24, PCOLCE-AS1 (S21N)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2393467	NM_033506.3(FBXO24):c.857C>T (p.Thr286Met)	FBXO24, PCOLCE-AS1 (T274M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391953	NM_033506.3(FBXO24):c.1190G>C (p.Arg397Pro)	FBXO24, PCOLCE-AS1 (R435P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390891	NM_033506.3(FBXO24):c.1325G>A (p.Arg442His)	FBXO24, PCOLCE-AS1 (R430H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2363397	NM_002593.4(PCOLCE):c.125A>T (p.Lys42Met)	PCOLCE, PCOLCE-AS1 (K42M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363172	NM_033506.3(FBXO24):c.40-267G>T	FBXO24, PCOLCE-AS1 (G24W)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2359096	NM_033506.3(FBXO24):c.40-186C>T	FBXO24, PCOLCE-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2358227	NM_033506.3(FBXO24):c.626C>T (p.Pro209Leu)	FBXO24, PCOLCE-AS1 (P197L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2339602	NM_033506.3(FBXO24):c.704T>C (p.Val235Ala)	FBXO24, PCOLCE-AS1 (V273A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2332304	NM_033506.3(FBXO24):c.571C>G (p.Pro191Ala)	FBXO24, PCOLCE-AS1 (P229A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322466	NM_033506.3(FBXO24):c.1133T>C (p.Ile378Thr)	FBXO24, PCOLCE-AS1 (I366T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320204	NM_033506.3(FBXO24):c.200G>A (p.Arg67His)	FBXO24, PCOLCE-AS1 (R55H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2314645	NM_033506.3(FBXO24):c.293G>A (p.Arg98Gln)	FBXO24, PCOLCE-AS1 (R136Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2302651	NM_033506.3(FBXO24):c.1667T>C (p.Phe556Ser)	FBXO24, PCOLCE-AS1 (F556S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2272863	NM_002593.4(PCOLCE):c.256C>A (p.Leu86Met)	PCOLCE, PCOLCE-AS1 (L86M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2234672	NM_033506.3(FBXO24):c.907G>C (p.Val303Leu)	FBXO24, PCOLCE-AS1 (V303L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222062	NM_033506.3(FBXO24):c.409C>T (p.Arg137Cys)	FBXO24, PCOLCE-AS1 (R125C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213754	NM_002593.4(PCOLCE):c.175C>G (p.Pro59Ala)	PCOLCE, PCOLCE-AS1 (P59A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212986	NM_002593.4(PCOLCE):c.17C>G (p.Thr6Arg)	PCOLCE, PCOLCE-AS1 (T6R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2208236	NM_033506.3(FBXO24):c.499G>A (p.Gly167Ser)	FBXO24, PCOLCE-AS1 (G167S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 54