PPEF2[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	BTC, CABS1 +330 more	Deletion	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992714, LOC129992715 +236 more	Copy number loss	See cases	GPathogenic
Select item 57365	GRCh38/hg38 4q21.1(chr4:75729757-76160423)x1	ART3, CXCL10 +16 more	Copy number loss	See cases	GUncertain significance
Select item 152987	GRCh38/hg38 4q21.1-21.21(chr4:75801143-79005805)x3	ANXA3, ART3 +107 more	Copy number gain	See cases	GPathogenic
Select item 2227194	NM_006239.3(PPEF2):c.2237G>C (p.Gly746Ala)	PPEF2 (G746A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287200	NM_006239.3(PPEF2):c.2164C>T (p.Arg722Cys)	PPEF2 (R722C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309108	NM_006239.3(PPEF2):c.2159C>A (p.Ala720Asp)	PPEF2 (A720D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217075	NM_006239.3(PPEF2):c.2144A>G (p.Asn715Ser)	PPEF2 (N715S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350095	NM_006239.3(PPEF2):c.2090T>G (p.Ile697Ser)	PPEF2 (I697S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345850	NM_006239.3(PPEF2):c.2026G>A (p.Glu676Lys)	PPEF2 (E676K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211732	NM_006239.3(PPEF2):c.1975A>T (p.Thr659Ser)	PPEF2 (T659S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252616	NM_006239.3(PPEF2):c.1901A>T (p.Lys634Met)	PPEF2 (K634M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397122	NM_006239.3(PPEF2):c.1893C>G (p.Asn631Lys)	PPEF2 (N631K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301801	NM_006239.3(PPEF2):c.1864A>T (p.Met622Leu)	PPEF2 (M622L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301260	NM_006239.3(PPEF2):c.1738C>T (p.His580Tyr)	PPEF2 (H580Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410661	NM_006239.3(PPEF2):c.1705C>T (p.His569Tyr)	PPEF2 (H569Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387262	NM_006239.3(PPEF2):c.1681G>A (p.Ala561Thr)	PPEF2 (A561T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654825	NM_006239.3(PPEF2):c.1671G>A (p.Ser557=)	PPEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619814	NM_006239.3(PPEF2):c.1643G>A (p.Arg548Lys)	PPEF2 (R548K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596414	NM_006239.3(PPEF2):c.1631C>A (p.Thr544Lys)	PPEF2 (T544K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403050	NM_006239.3(PPEF2):c.1600G>A (p.Val534Met)	PPEF2 (V534M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217073	NM_006239.3(PPEF2):c.1595A>G (p.His532Arg)	PPEF2 (H532R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489231	NM_006239.3(PPEF2):c.1517T>C (p.Ile506Thr)	PPEF2 (I506T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485947	NM_006239.3(PPEF2):c.1370C>G (p.Ala457Gly)	PPEF2 (A457G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309109	NM_006239.3(PPEF2):c.1345C>G (p.Pro449Ala)	PPEF2 (P449A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217072	NM_006239.3(PPEF2):c.1313G>T (p.Trp438Leu)	PPEF2 (W438L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217071	NM_006239.3(PPEF2):c.1282G>A (p.Gly428Arg)	PPEF2 (G428R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654826	NM_006239.3(PPEF2):c.1281C>T (p.Ala427=)	PPEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2479363	NM_006239.3(PPEF2):c.1236G>C (p.Glu412Asp)	PPEF2 (E412D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345906	NM_006239.3(PPEF2):c.1209G>C (p.Gln403His)	PPEF2 (Q403H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217070	NM_006239.3(PPEF2):c.1195G>C (p.Glu399Gln)	PPEF2 (E399Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382858	NM_006239.3(PPEF2):c.1195G>A (p.Glu399Lys)	PPEF2 (E399K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214861	NM_006239.3(PPEF2):c.1181T>G (p.Val394Gly)	PPEF2 (V394G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217068	NM_006239.3(PPEF2):c.1166A>G (p.Gln389Arg)	PPEF2 (Q389R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3217067	NM_006239.3(PPEF2):c.1088C>T (p.Ser363Phe)	PPEF2 (S363F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217066	NM_006239.3(PPEF2):c.1004A>G (p.Asn335Ser)	PPEF2 (N335S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217065	NM_006239.3(PPEF2):c.1000G>A (p.Ala334Thr)	PPEF2 (A334T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308920	NM_006239.3(PPEF2):c.844A>T (p.Thr282Ser)	PPEF2 (T282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334466	NM_006239.3(PPEF2):c.839T>C (p.Leu280Pro)	PPEF2 (L280P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510639	NM_006239.3(PPEF2):c.833T>A (p.Leu278His)	PPEF2 (L278H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217076	NM_006239.3(PPEF2):c.744A>T (p.Leu248Phe)	PPEF2 (L248F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334318	NM_006239.3(PPEF2):c.637G>C (p.Gly213Arg)	PPEF2 (G213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254938	NM_006239.3(PPEF2):c.496G>T (p.Val166Phe)	PPEF2 (V166F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537951	NM_006239.3(PPEF2):c.431G>A (p.Arg144His)	PPEF2 (R144H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357975	NM_006239.3(PPEF2):c.304T>C (p.Cys102Arg)	PPEF2 (C102R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303126	NM_006239.3(PPEF2):c.295A>T (p.Met99Leu)	PPEF2 (M99L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588602	NM_006239.3(PPEF2):c.287A>G (p.Asp96Gly)	PPEF2 (D96G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217074	NM_006239.3(PPEF2):c.211G>A (p.Asp71Asn)	PPEF2 (D71N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568510	NM_006239.3(PPEF2):c.125G>A (p.Arg42His)	PPEF2 (R42H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270877	NM_006239.3(PPEF2):c.110T>C (p.Leu37Pro)	PPEF2 (L37P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518118	NM_006239.3(PPEF2):c.95G>A (p.Arg32His)	PPEF2 (R32H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217077	NM_006239.3(PPEF2):c.94C>T (p.Arg32Cys)	PPEF2 (R32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380226	NM_006239.3(PPEF2):c.51G>C (p.Glu17Asp)	PPEF2 (E17D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287806	NM_006239.3(PPEF2):c.19A>G (p.Thr7Ala)	PPEF2 (T7A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062778	GRCh37/hg19 4q13.3-21.21(chr4:74822261-79345650)x1	AREG, ART3 +37 more	Copy number loss	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1527095	GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154)	CXCL5, CXCL6 +51 more	Copy number loss	not specified	GPathogenic
Select item 1456083	NC_000004.11:g.(?_76481293)_(77700330_?)del	ART3, CCDC158 +16 more	Deletion	Progressive myoclonic epilepsy	GPathogenic
Select item 1340346	GRCh37/hg19 4q13.3-21.1(chr4:75617591-76926681)x3	BTC, CDKL2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 980097	GRCh37/hg19 4q21.1(chr4:76714825-76978984)x3	ART3, USO1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 685523	GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1	ADAMTS3, AFM +51 more	Copy number loss	not provided	GPathogenic
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 562934	GRCh37/hg19 4q21.1(chr4:76770579-76998151)x3	ART3, CXCL9 +5 more	Copy number gain	not provided	GLikely benign
Select item 562933	GRCh37/hg19 4q13.3-21.1(chr4:75353931-77183033)x1	BTC, PARM1 +17 more	Copy number loss	not provided	GUncertain significance
Select item 562932	GRCh37/hg19 4q13.3-21.1(chr4:74890695-77318961)x1	CDKL2, AREG +25 more	Copy number loss	not provided	GUncertain significance
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

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Items: 78