ClinVar for Gene (Select 79974) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269182	NM_024913.5(CPED1):c.2998C>T (p.Pro1000Ser)	CPED1 (P1000S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269181	NM_024913.5(CPED1):c.683C>T (p.Ser228Leu)	CPED1 (S228L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269179	NM_024913.5(CPED1):c.2899A>C (p.Asn967His)	CPED1 (N967H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3269178	NM_024913.5(CPED1):c.1565A>C (p.His522Pro)	CPED1 (H522P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269177	NM_024913.5(CPED1):c.2615T>G (p.Ile872Ser)	CPED1 (I872S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269176	NM_024913.5(CPED1):c.1973T>C (p.Ile658Thr)	CPED1 (I658T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269175	NM_024913.5(CPED1):c.47G>A (p.Arg16Gln)	CPED1 (R16Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076674	NM_024913.5(CPED1):c.992T>C (p.Ile331Thr)	CPED1 (I331T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076673	NM_024913.5(CPED1):c.877A>C (p.Thr293Pro)	CPED1 (T293P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076672	NM_024913.5(CPED1):c.725C>G (p.Pro242Arg)	CPED1 (P242R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076671	NM_024913.5(CPED1):c.338A>C (p.Gln113Pro)	CPED1 (Q113P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076670	NM_024913.5(CPED1):c.298A>G (p.Ile100Val)	CPED1 (I100V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3076669	NM_024913.5(CPED1):c.2821C>T (p.Arg941Cys)	CPED1 (R941C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076668	NM_024913.5(CPED1):c.2678T>C (p.Ile893Thr)	CPED1 (I893T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076667	NM_024913.5(CPED1):c.264G>A (p.Met88Ile)	CPED1 (M88I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3076666	NM_024913.5(CPED1):c.2069T>C (p.Leu690Pro)	CPED1 (L690P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076665	NM_024913.5(CPED1):c.1994A>G (p.Tyr665Cys)	CPED1 (Y665C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076664	NM_024913.5(CPED1):c.1857G>C (p.Lys619Asn)	CPED1 (K619N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076663	NM_024913.5(CPED1):c.1718A>G (p.His573Arg)	CPED1 (H573R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076661	NM_024913.5(CPED1):c.1613C>T (p.Pro538Leu)	CPED1 (P538L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076660	NM_024913.5(CPED1):c.1550A>C (p.Lys517Thr)	CPED1 (K517T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076659	NM_024913.5(CPED1):c.1331A>G (p.Gln444Arg)	CPED1 (Q444R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076657	NM_024913.5(CPED1):c.1130T>C (p.Leu377Pro)	CPED1 (L377P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076656	NM_024913.5(CPED1):c.1031C>T (p.Thr344Ile)	CPED1 (T344I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 3062946	GRCh37/hg19 7q31.31(chr7:120643929-120855277)x3	CPED1	Copy number gain	not specified	GUncertain significance
Select item 2657967	NM_024913.5(CPED1):c.2772A>C (p.Ala924=)	CPED1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657966	NM_024913.5(CPED1):c.1010C>T (p.Ala337Val)	CPED1 (A337V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2657965	NM_024913.5(CPED1):c.241A>G (p.Thr81Ala)	CPED1 (T81A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2612010	NM_024913.5(CPED1):c.2720A>G (p.Gln907Arg)	CPED1 (Q907R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603105	NM_024913.5(CPED1):c.758C>T (p.Thr253Met)	CPED1 (T253M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600220	NM_024913.5(CPED1):c.641C>G (p.Ser214Cys)	CPED1 (S214C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595442	NM_024913.5(CPED1):c.131C>G (p.Ala44Gly)	CPED1 (A44G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593441	NM_024913.5(CPED1):c.1550A>G (p.Lys517Arg)	CPED1 (K517R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559991	NM_024913.5(CPED1):c.211T>A (p.Cys71Ser)	CPED1 (C71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559430	NM_024913.5(CPED1):c.298A>T (p.Ile100Leu)	CPED1 (I100L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553210	NM_024913.5(CPED1):c.548G>T (p.Arg183Ile)	CPED1 (R183I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2549152	NM_024913.5(CPED1):c.439C>G (p.Leu147Val)	CPED1 (L147V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538318	NM_024913.5(CPED1):c.2930A>G (p.His977Arg)	CPED1 (H977R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526652	NM_024913.5(CPED1):c.1240G>A (p.Glu414Lys)	CPED1 (E414K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521118	NM_024913.5(CPED1):c.23C>T (p.Pro8Leu)	CPED1 (P8L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2520143	NM_024913.5(CPED1):c.2708A>G (p.His903Arg)	CPED1 (H903R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518282	NM_024913.5(CPED1):c.2087C>G (p.Thr696Ser)	CPED1 (T696S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512442	NM_024913.5(CPED1):c.2077C>T (p.Pro693Ser)	CPED1 (P693S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496552	NM_024913.5(CPED1):c.1451A>C (p.Glu484Ala)	CPED1 (E484A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479196	NM_024913.5(CPED1):c.2041T>A (p.Cys681Ser)	CPED1 (C681S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467806	NM_024913.5(CPED1):c.659G>A (p.Gly220Glu)	CPED1 (G220E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403063	NM_024913.5(CPED1):c.485A>T (p.Glu162Val)	CPED1 (E162V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397364	NM_024913.5(CPED1):c.1564C>T (p.His522Tyr)	CPED1 (H522Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383066	NM_024913.5(CPED1):c.869C>T (p.Ser290Leu)	CPED1 (S290L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382538	NM_024913.5(CPED1):c.2216C>T (p.Thr739Met)	CPED1 (T739M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377476	NM_024913.5(CPED1):c.254A>G (p.Lys85Arg)	CPED1 (K85R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363125	NM_024913.5(CPED1):c.1185C>A (p.Asp395Glu)	CPED1 (D395E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358687	NM_024913.5(CPED1):c.4G>A (p.Val2Ile)	CPED1 (V2I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354533	NM_024913.5(CPED1):c.290G>A (p.Arg97Gln)	CPED1 (R97Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353960	NM_024913.5(CPED1):c.1138C>T (p.His380Tyr)	CPED1 (H380Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350431	NM_024913.5(CPED1):c.374C>T (p.Thr125Met)	CPED1 (T125M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342270	NM_024913.5(CPED1):c.1049A>C (p.Lys350Thr)	CPED1 (K350T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334409	NM_024913.5(CPED1):c.1159G>C (p.Asp387His)	CPED1 (D387H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332332	NM_024913.5(CPED1):c.854G>A (p.Arg285His)	CPED1 (R285H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330942	NM_024913.5(CPED1):c.1629T>A (p.Asp543Glu)	CPED1 (D543E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320069	NM_024913.5(CPED1):c.464G>T (p.Cys155Phe)	CPED1 (C155F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292528	NM_024913.5(CPED1):c.1140C>G (p.His380Gln)	CPED1 (H380Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290325	NM_024913.5(CPED1):c.2097A>T (p.Leu699Phe)	CPED1 (L699F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285813	NM_024913.5(CPED1):c.2059T>C (p.Cys687Arg)	CPED1 (C687R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252294	NM_024913.5(CPED1):c.899A>T (p.Lys300Ile)	CPED1 (K300I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250918	NM_024913.5(CPED1):c.2527C>G (p.Gln843Glu)	CPED1 (Q843E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247277	NM_024913.5(CPED1):c.1636G>A (p.Glu546Lys)	CPED1 (E546K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242878	NM_024913.5(CPED1):c.1882C>T (p.Pro628Ser)	CPED1 (P628S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242352	NM_024913.5(CPED1):c.1033T>A (p.Ser345Thr)	CPED1 (S345T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233468	NM_024913.5(CPED1):c.2778A>T (p.Lys926Asn)	CPED1 (K926N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224130	NM_024913.5(CPED1):c.1343T>C (p.Leu448Ser)	CPED1 (L448S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213855	NM_024913.5(CPED1):c.358A>G (p.Thr120Ala)	CPED1 (T120A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206652	NM_024913.5(CPED1):c.1447C>A (p.His483Asn)	CPED1 (H483N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1687716	Single allele	FEZF1, GPR37 +38 more	Deletion	Delayed speech and language development	GLikely pathogenic
Select item 1527387	GRCh37/hg19 7q31.31(chr7:120268066-120869197)	CPED1, ING3 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1340117	GRCh37/hg19 7q31.31(chr7:120813156-121033289)x1	CPED1, FAM3C +1 more	Copy number loss	not provided	GUncertain significance
Select item 1340007	GRCh37/hg19 7q31.31(chr7:120632159-120893340)x1	CPED1	Copy number loss	not provided	GLikely benign
Select item 1047873	GRCh37/hg19 7q31.2-31.33(chr7:116297277-126370694)	AASS, ANKRD7 +35 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 815014	GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1	TMEM168, LAMB4 +59 more	Copy number loss	not provided	GPathogenic
Select item 797865	NM_024913.5(CPED1):c.2274T>G (p.Thr758=)	CPED1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 792088	NM_024913.5(CPED1):c.2846A>C (p.Lys949Thr)	CPED1 (K949T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 788787	NM_024913.5(CPED1):c.879A>G (p.Thr293=)	CPED1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782496	NM_024913.5(CPED1):c.2634-3C>A	CPED1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 736845	NM_024913.5(CPED1):c.416C>T (p.Pro139Leu)	CPED1 (P139L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 717860	NM_024913.5(CPED1):c.420G>A (p.Gly140=)	CPED1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713826	NM_024913.5(CPED1):c.1938T>A (p.Val646=)	CPED1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689142	GRCh37/hg19 7q31.31(chr7:120818380-121033193)x1	CPED1, FAM3C +1 more	Copy number loss	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442628	GRCh37/hg19 7q31.31(chr7:120864414-121086762)x1	CPED1, FAM3C +1 more	Copy number loss	See cases	GLikely benign
Select item 442325	GRCh37/hg19 7q31.31(chr7:120632159-120897181)x1	CPED1	Copy number loss	See cases	GUncertain significance
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 253455	GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1	AASS, RNU2-1 +57 more	Copy number loss	See cases	GPathogenic

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