ClinVar for Gene (Select 339453) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373221	NM_001114748.2(TMEM240):c.390G>T (p.Trp130Cys)	TMEM240 (W130C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365645	NM_001114748.2(TMEM240):c.209TGG[1] (p.Val71del)	TMEM240 (V71del)	Microsatellite	not provided	GUncertain significance
Select item 3360761	NM_001114748.2(TMEM240):c.465G>C (p.Met155Ile)	TMEM240 (M155I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359463	NM_001114748.2(TMEM240):c.104A>C (p.His35Pro)	TMEM240 (H35P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341894	NM_001114748.2(TMEM240):c.373+3G>T	TMEM240	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3340890	NM_001114748.2(TMEM240):c.164+5G>A	TMEM240	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3327005	NM_001114748.2(TMEM240):c.329T>C (p.Val110Ala)	TMEM240 (V110A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247908	NC_000001.10:g.(?_1284256)_(1475190_?)dup	DVL1, MRPL20 +10 more	Duplication	not provided	GUncertain significance
Select item 3247906	NC_000001.10:g.(?_1470739)_(3768971_?)dup	ACTRT2, ARHGEF16 +38 more	Duplication	not provided	GUncertain significance
Select item 3247720	NC_000001.10:g.(?_1146935)_(3768971_?)del	ACAP3, ACTRT2 +60 more	Deletion	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 3179251	NM_001114748.2(TMEM240):c.334C>T (p.His112Tyr)	TMEM240 (H112Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068934	NM_001114748.2(TMEM240):c.415G>C (p.Glu139Gln)	TMEM240 (E139Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063255	GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3	ACAP3, ACTRT2 +76 more	Copy number gain	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 3025054	NM_001114748.2(TMEM240):c.444C>T (p.Phe148=)	TMEM240	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019071	NM_001114748.2(TMEM240):c.11G>C (p.Ser4Thr)	TMEM240 (S4T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3008475	NM_001114748.2(TMEM240):c.189G>A (p.Pro63=)	TMEM240	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006400	NM_001114748.2(TMEM240):c.155A>G (p.Asn52Ser)	TMEM240 (N52S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992312	NM_001114748.2(TMEM240):c.413G>A (p.Arg138Gln)	TMEM240 (R138Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979288	NM_001114748.2(TMEM240):c.373+8C>T	TMEM240	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972424	NM_001114748.2(TMEM240):c.373+15C>T	TMEM240	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968573	NM_001114748.2(TMEM240):c.374-18G>A	TMEM240	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967329	NM_001114748.2(TMEM240):c.360C>T (p.Ala120=)	TMEM240	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955803	NM_001114748.2(TMEM240):c.373+20C>T	TMEM240	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2915330	NM_001114748.2(TMEM240):c.223G>A (p.Glu75Lys)	TMEM240 (E75K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901478	NM_001114748.2(TMEM240):c.7A>G (p.Met3Val)	TMEM240 (M3V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2889527	NM_001114748.2(TMEM240):c.138C>T (p.Asp46=)	TMEM240	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884585	NM_001114748.2(TMEM240):c.374-10C>A	TMEM240	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2879249	NM_001114748.2(TMEM240):c.4T>C (p.Ser2Pro)	TMEM240 (S2P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871606	NM_001114748.2(TMEM240):c.165-14C>G	TMEM240	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855986	NM_001114748.2(TMEM240):c.508C>T (p.Pro170Ser)	TMEM240 (P170S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2825478	NM_001114748.2(TMEM240):c.374-4G>A	TMEM240	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2813798	NM_001114748.2(TMEM240):c.58-20C>G	TMEM240	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2780686	NM_001114748.2(TMEM240):c.369C>G (p.Arg123=)	TMEM240	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712317	NM_001114748.2(TMEM240):c.324C>T (p.Asp108=)	TMEM240	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2708072	NM_001114748.2(TMEM240):c.365G>C (p.Arg122Pro)	TMEM240 (R122P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695501	NM_001114748.2(TMEM240):c.345G>A (p.Val115=)	TMEM240	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685790	GRCh37/hg19 1p36.33(chr1:1138880-1647481)x3	MMP23B, SSU72 +29 more	Copy number gain	not provided	GUncertain significance
Select item 2685789	GRCh37/hg19 1p36.33-36.32(chr1:1129319-3615916)x3	MIR551A, PANK4 +58 more	Copy number gain	not provided	GPathogenic
Select item 2685787	GRCh37/hg19 1p36.33-36.32(chr1:1089596-2607016)x3	MMEL1, PEX10 +53 more	Copy number gain	not provided	GUncertain significance
Select item 2685277	GRCh37/hg19 1p36.33-36.32(chr1:1182855-2431925)x1	TMEM88B, UBE2J2 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685266	GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1	SCNN1D, SDF4 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638047	NM_001114748.2(TMEM240):c.342C>G (p.Ala114=)	TMEM240	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638046	NM_001114748.2(TMEM240):c.*3C>T	TMEM240	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2628692	NM_001114748.2(TMEM240):c.55A>T (p.Met19Leu)	TMEM240 (M19L)	Single nucleotide variant (missense variant)	TMEM240-related disorder	GUncertain significance
Select item 2628427	NM_001114748.2(TMEM240):c.167A>G (p.His56Arg)	TMEM240 (H56R)	Single nucleotide variant (missense variant)	TMEM240-related disorder	GUncertain significance
Select item 2604891	NM_001114748.2(TMEM240):c.367C>T (p.Arg123Cys)	TMEM240 (R123C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589790	NM_001114748.2(TMEM240):c.368G>A (p.Arg123His)	TMEM240 (R123H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570762	GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	ACAP3, ACTRT2 +79 more	Copy number loss	not provided	GPathogenic
Select item 2519248	NM_001114748.2(TMEM240):c.428G>A (p.Arg143Gln)	TMEM240 (R143Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2515511	NM_001114748.2(TMEM240):c.425G>A (p.Arg142Gln)	TMEM240 (R142Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501007	GRCh37/hg19 1p36.33-36.32(chr1:1-2580976)x1	ACAP3, AGRN +65 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2446518	NM_001114748.2(TMEM240):c.359C>T (p.Ala120Val)	TMEM240 (A120V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444764	NM_001114748.2(TMEM240):c.136G>A (p.Asp46Asn)	TMEM240 (D46N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437114	NM_001114748.2(TMEM240):c.217G>A (p.Ala73Thr)	TMEM240 (A73T)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 21	GUncertain significance
Select item 2437113	NM_001114748.2(TMEM240):c.328G>A (p.Val110Ile)	TMEM240 (V110I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2412693	NM_001114748.2(TMEM240):c.47C>A (p.Ser16Ter)	TMEM240 (S16*)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia type 21	GUncertain significance
Select item 2407299	NM_001114748.2(TMEM240):c.472G>A (p.Val158Met)	TMEM240 (V158M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403158	NM_001114748.2(TMEM240):c.427C>T (p.Arg143Trp)	TMEM240 (R143W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2367852	NM_001114748.2(TMEM240):c.347G>A (p.Arg116His)	TMEM240 (R116H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2366607	NM_001114748.2(TMEM240):c.12C>A (p.Ser4Arg)	TMEM240 (S4R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334957	NM_001114748.2(TMEM240):c.170A>G (p.His57Arg)	TMEM240 (H57R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2188766	NM_001114748.2(TMEM240):c.443T>C (p.Phe148Ser)	TMEM240 (F148S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175487	NM_001114748.2(TMEM240):c.165-8G>A	TMEM240	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2168855	NM_001114748.2(TMEM240):c.471C>T (p.His157=)	TMEM240	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2158528	NM_001114748.2(TMEM240):c.265G>A (p.Asp89Asn)	TMEM240 (D89N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2122308	NM_001114748.2(TMEM240):c.373+1del	TMEM240	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2079057	NM_001114748.2(TMEM240):c.456C>T (p.Ala152=)	TMEM240	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2078161	NM_001114748.2(TMEM240):c.342C>T (p.Ala114=)	TMEM240	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2077450	NM_001114748.2(TMEM240):c.296G>T (p.Cys99Phe)	TMEM240 (C99F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2077449	NM_001114748.2(TMEM240):c.361G>A (p.Gly121Arg)	TMEM240 (G121R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2068676	NM_001114748.2(TMEM240):c.141C>T (p.Arg47=)	TMEM240	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2065075	NM_001114748.2(TMEM240):c.288G>A (p.Leu96=)	TMEM240	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2038888	NM_001114748.2(TMEM240):c.373+9_373+11del	TMEM240	Deletion (intron variant)	not provided	GBenign
Select item 2032267	NM_001114748.2(TMEM240):c.395C>T (p.Pro132Leu)	TMEM240 (P132L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1988577	NM_001114748.2(TMEM240):c.364C>T (p.Arg122Trp)	TMEM240 (R122W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1988023	NM_001114748.2(TMEM240):c.373+11C>T	TMEM240	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1967501	NM_001114748.2(TMEM240):c.458G>C (p.Gly153Ala)	TMEM240 (G153A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941676	NM_001114748.2(TMEM240):c.58-18G>C	TMEM240	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922411	NM_001114748.2(TMEM240):c.374-14_374-13del	TMEM240	Deletion (intron variant)	not provided	GLikely benign
Select item 1921530	NM_001114748.2(TMEM240):c.165-17C>T	TMEM240	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1918472	NM_001114748.2(TMEM240):c.418C>G (p.Leu140Val)	TMEM240 (L140V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917619	NM_001114748.2(TMEM240):c.222C>T (p.Ser74=)	TMEM240	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914328	NM_001114748.2(TMEM240):c.193G>A (p.Asp65Asn)	TMEM240 (D65N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1907882	NM_001114748.2(TMEM240):c.417G>C (p.Glu139Asp)	TMEM240 (E139D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1898999	NM_001114748.2(TMEM240):c.348C>T (p.Arg116=)	TMEM240	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898027	NM_001114748.2(TMEM240):c.240G>T (p.Thr80=)	TMEM240	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1896304	NM_001114748.2(TMEM240):c.373+12G>A	TMEM240	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1809675	NM_001114748.2(TMEM240):c.457G>A (p.Gly153Arg)	TMEM240 (G153R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809089	GRCh37/hg19 1p36.33-36.32(chr1:1130311-2397177)x3	ACAP3, ANKRD65 +43 more	Copy number gain	not provided	GUncertain significance
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1807780	GRCh37/hg19 1p36.33-36.32(chr1:1335011-2302755)x1	ANKRD65, ATAD3A +24 more	Copy number loss	not provided	GPathogenic
Select item 1807723	GRCh37/hg19 1p36.33-36.32(chr1:849467-2972435)x1	ACAP3, ACTRT2 +63 more	Copy number loss	not provided	GPathogenic
Select item 1804387	NM_001114748.2(TMEM240):c.195C>G (p.Asp65Glu)	TMEM240 (D65E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706500	GRCh37/hg19 1p36.33-36.32(chr1:849466-2518608)x1	ACAP3, AGRN +60 more	Copy number loss	See cases	GPathogenic
Select item 1705200	NM_001114748.2(TMEM240):c.445G>A (p.Glu149Lys)	TMEM240 (E149K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1703629	GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	GPR157, H6PD +124 more	Copy number loss	Chromosome 1p36 deletion syndrome, proximal	GPathogenic
Select item 1703628	GRCh37/hg19 1p36.33-36.32(chr1:849466-4183006)	ACAP3, ACTRT2 +76 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic

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