MEGF8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 60102	GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)x1	ATP1A3, CEACAM1 +95 more	Copy number loss	See cases	GPathogenic
Select item 1283337	NM_001271938.2(MEGF8):c.-159A>T	MEGF8	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2188070	NM_001271938.2(MEGF8):c.7C>T (p.Leu3=)	LOC130064579, MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 1368376	NM_001271938.2(MEGF8):c.27G>C (p.Met9Ile)	LOC130064579, MEGF8 (M9I)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 1509589	NM_001271938.2(MEGF8):c.47C>G (p.Ala16Gly)	LOC130064579, MEGF8 (A16G)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 3294131	NM_001271938.2(MEGF8):c.49G>C (p.Val17Leu)	LOC130064579, MEGF8 (V17L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2046117	NM_001271938.2(MEGF8):c.68C>T (p.Pro23Leu)	MEGF8 (P23L)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 1394338	NM_001271938.2(MEGF8):c.77G>T (p.Arg26Leu)	MEGF8 (R26L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2164657	NM_001271938.2(MEGF8):c.112C>T (p.Arg38Trp)	MEGF8 (R38W)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 1533697	NM_001271938.2(MEGF8):c.123A>G (p.Pro41=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2334180	NM_001271938.2(MEGF8):c.125G>T (p.Gly42Val)	MEGF8 (G42V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038726	NM_001271938.2(MEGF8):c.135G>A (p.Thr45=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related disorder	GLikely benign
Select item 1920402	NM_001271938.2(MEGF8):c.172G>A (p.Glu58Lys)	MEGF8 (E58K)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2287392	NM_001271938.2(MEGF8):c.178C>G (p.Leu60Val)	MEGF8 (L60V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1204223	NM_001271938.2(MEGF8):c.188-111A>G	MEGF8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188295	NM_001271938.2(MEGF8):c.188-101A>G	MEGF8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2510324	NM_001271938.2(MEGF8):c.190C>G (p.Pro64Ala)	MEGF8 (P64A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 540558	NM_001271938.2(MEGF8):c.246G>T (p.Thr82=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2725796	NM_001271938.2(MEGF8):c.261C>T (p.Phe87=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 945512	NM_001271938.2(MEGF8):c.262G>A (p.Val88Met)	MEGF8 (V88M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3037239	NM_001271938.2(MEGF8):c.270C>T (p.Asp90=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related disorder	GLikely benign
Select item 938580	NM_001271938.2(MEGF8):c.278C>G (p.Ser93Cys)	MEGF8 (S93C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 707549	NM_001271938.2(MEGF8):c.281C>T (p.Pro94Leu)	MEGF8 (P94L)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2100885	NM_001271938.2(MEGF8):c.282G>C (p.Pro94=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 1441755	NM_001271938.2(MEGF8):c.284G>A (p.Arg95Gln)	MEGF8 (R95Q)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 1977100	NM_001271938.2(MEGF8):c.287G>A (p.Gly96Glu)	MEGF8 (G96E)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 3125189	NM_001271938.2(MEGF8):c.290C>T (p.Pro97Leu)	MEGF8 (P97L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1985795	NM_001271938.2(MEGF8):c.291G>T (p.Pro97=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 3035206	NM_001271938.2(MEGF8):c.306A>G (p.Leu102=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related disorder	GLikely benign
Select item 2433735	NM_001271938.2(MEGF8):c.320G>A (p.Arg107Gln)	MEGF8 (R107Q)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome +1 more	GUncertain significance
Select item 435856	NM_001271938.2(MEGF8):c.326C>T (p.Pro109Leu)	MEGF8 (P109L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2427936	NM_001271938.2(MEGF8):c.328C>A (p.Pro110Thr)	MEGF8 (P110T)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 1390514	NM_001271938.2(MEGF8):c.334G>A (p.Glu112Lys)	MEGF8 (E112K)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 951748	NM_001271938.2(MEGF8):c.351+4A>G	MEGF8	Single nucleotide variant (intron variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 749459	NM_001271938.2(MEGF8):c.351+10G>A	MEGF8	Single nucleotide variant (intron variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2742009	NM_001271938.2(MEGF8):c.351+18C>T	MEGF8	Single nucleotide variant (intron variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2029021	NM_001271938.2(MEGF8):c.351+20T>C	MEGF8	Single nucleotide variant (intron variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2137904	NM_001271938.2(MEGF8):c.352-16C>T	MEGF8	Single nucleotide variant (intron variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 720586	NM_001271938.2(MEGF8):c.352-5C>T	MEGF8	Single nucleotide variant (intron variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 473327	NM_001271938.2(MEGF8):c.352-4G>A	MEGF8	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 473328	NM_001271938.2(MEGF8):c.357G>A (p.Leu119=)	MEGF8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 703152	NM_001271938.2(MEGF8):c.390G>A (p.Leu130=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome +1 more	GLikely benign
Select item 540551	NM_001271938.2(MEGF8):c.402C>T (p.Asn134=)	MEGF8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 498690	NM_001271938.2(MEGF8):c.412C>T (p.Arg138Cys)	MEGF8 (R138C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2062496	NM_001271938.2(MEGF8):c.413G>A (p.Arg138His)	MEGF8 (R138H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2897601	NM_001271938.2(MEGF8):c.428C>A (p.Pro143Gln)	MEGF8 (P143Q)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 473332	NM_001271938.2(MEGF8):c.428C>T (p.Pro143Leu)	MEGF8 (P143L)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome +1 more	GUncertain significance
Select item 2082052	NM_001271938.2(MEGF8):c.481G>A (p.Glu161Lys)	MEGF8 (E161K)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 1311514	NM_001271938.2(MEGF8):c.485C>T (p.Pro162Leu)	MEGF8 (P162L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 703327	NM_001271938.2(MEGF8):c.495G>C (p.Gly165=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome +1 more	GBenign/Likely benign
Select item 2574383	NM_001271938.2(MEGF8):c.497G>T (p.Gly166Val)	MEGF8 (G166V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2305202	NM_001271938.2(MEGF8):c.497G>A (p.Gly166Asp)	MEGF8 (G166D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1956741	NM_001271938.2(MEGF8):c.506G>A (p.Cys169Tyr)	MEGF8 (C169Y)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2199299	NM_001271938.2(MEGF8):c.519G>A (p.Glu173=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 859294	NM_001271938.2(MEGF8):c.527C>G (p.Ala176Gly)	MEGF8 (A176G)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome +1 more	GUncertain significance
Select item 747480	NM_001271938.2(MEGF8):c.543C>T (p.His181=)	MEGF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1246327	NM_001271938.2(MEGF8):c.558+52G>C	MEGF8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1631855	NM_001271938.2(MEGF8):c.559-18_559-17del	MEGF8	Deletion (intron variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2702995	NM_001271938.2(MEGF8):c.559-5C>T	MEGF8	Single nucleotide variant (intron variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 1331433	NM_001271938.2(MEGF8):c.584C>T (p.Pro195Leu)	MEGF8 (P195L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 39848	NM_001271938.2(MEGF8):c.595G>C (p.Gly199Arg)	MEGF8	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GPathogenic
Select item 3125205	NM_001271938.2(MEGF8):c.599G>T (p.Arg200Leu)	MEGF8 (R200L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1343547	NM_001271938.2(MEGF8):c.599G>A (p.Arg200His)	MEGF8 (R200H)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome +1 more	GUncertain significance
Select item 1157503	NM_001271938.2(MEGF8):c.610C>T (p.Leu204=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2122253	NM_001271938.2(MEGF8):c.648C>T (p.His216=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2886909	NM_001271938.2(MEGF8):c.682C>T (p.Arg228Cys)	MEGF8 (R228C)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2156266	NM_001271938.2(MEGF8):c.686T>C (p.Ile229Thr)	MEGF8 (I229T)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2745428	NM_001271938.2(MEGF8):c.699C>T (p.Gly233=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2069956	NM_001271938.2(MEGF8):c.700G>A (p.Ala234Thr)	MEGF8 (A234T)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome +1 more	GUncertain significance
Select item 3125217	NM_001271938.2(MEGF8):c.730G>C (p.Val244Leu)	MEGF8 (V244L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2957510	NM_001271938.2(MEGF8):c.735C>T (p.Phe245=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 2370865	NM_001271938.2(MEGF8):c.736G>A (p.Gly246Arg)	MEGF8 (G246R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 995802	NM_001271938.2(MEGF8):c.739G>T (p.Gly247Cys)	MEGF8 (G247C)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GLikely pathogenic
Select item 1412248	NM_001271938.2(MEGF8):c.739+3G>A	MEGF8	Single nucleotide variant (intron variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2884124	NM_001271938.2(MEGF8):c.739+11G>C	MEGF8	Single nucleotide variant (intron variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 1218733	NM_001271938.2(MEGF8):c.739+39G>A	MEGF8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 772688	NM_001271938.2(MEGF8):c.740-6C>T	MEGF8	Single nucleotide variant (intron variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 650742	NM_001271938.2(MEGF8):c.748C>T (p.Leu250Phe)	MEGF8 (L250F)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2708092	NM_001271938.2(MEGF8):c.752A>G (p.Asn251Ser)	MEGF8 (N251S)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 1021349	NM_001271938.2(MEGF8):c.754A>G (p.Asn252Asp)	MEGF8 (N252D)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 1696200	NM_001271938.2(MEGF8):c.755A>G (p.Asn252Ser)	MEGF8 (N252S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2728630	NM_001271938.2(MEGF8):c.771C>T (p.Leu257=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GLikely benign
Select item 1506088	NM_001271938.2(MEGF8):c.772G>A (p.Val258Ile)	MEGF8 (V258I)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 1962740	NM_001271938.2(MEGF8):c.790G>A (p.Ala264Thr)	MEGF8 (A264T)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 3294143	NM_001271938.2(MEGF8):c.812A>G (p.Asp271Gly)	MEGF8 (D271G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3338639	NM_001271938.2(MEGF8):c.828G>A (p.Pro276=)	MEGF8	Single nucleotide variant (synonymous variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 1553090	NM_001271938.2(MEGF8):c.828+11del	MEGF8	Deletion (intron variant)	MEGF8-related Carpenter syndrome	GBenign
Select item 1703132	NM_001271938.2(MEGF8):c.828+23G>A	MEGF8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1215091	NM_001271938.2(MEGF8):c.829-176C>T	MEGF8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 660567	NM_001271938.2(MEGF8):c.853G>A (p.Val285Met)	MEGF8 (V285M)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 645690	NM_001271938.2(MEGF8):c.865G>A (p.Gly289Ser)	MEGF8 (G289S)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 3067103	NM_001271938.2(MEGF8):c.878T>C (p.Leu293Pro)	MEGF8 (L293P)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GLikely pathogenic
Select item 1411644	NM_001271938.2(MEGF8):c.889G>A (p.Glu297Lys)	MEGF8 (E297K)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 1517027	NM_001271938.2(MEGF8):c.899A>G (p.Asp300Gly)	MEGF8 (D300G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1331434	NM_001271938.2(MEGF8):c.901G>A (p.Gly301Ser)	MEGF8 (G301S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 702788	NM_001271938.2(MEGF8):c.918C>T (p.Asp306=)	MEGF8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 578584	NM_001271938.2(MEGF8):c.919G>A (p.Val307Met)	MEGF8 (V307M)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance

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