PCOLCE-AS1[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +230 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

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Items: 62