ClinVar for Gene (Select 8784) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327506	NM_004195.3(TNFRSF18):c.215G>C (p.Cys72Ser)	TNFRSF18 (C72S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327505	NM_004195.3(TNFRSF18):c.*155T>C	TNFRSF18 (C224R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3327504	NM_004195.3(TNFRSF18):c.31C>T (p.Arg11Trp)	TNFRSF18 (R11W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327503	NM_004195.3(TNFRSF18):c.380A>C (p.His127Pro)	TNFRSF18 (H127P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247835	NC_000001.10:g.(?_955553)_(1168648_?)dup	AGRN, B3GALT6 +9 more	Duplication	Combined immunodeficiency due to OX40 deficiency	GUncertain significance
Select item 3180260	NM_004195.3(TNFRSF18):c.97G>A (p.Gly33Arg)	TNFRSF18 (G33R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180259	NM_004195.3(TNFRSF18):c.*222C>G	TNFRSF18 (S246C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3180258	NM_004195.3(TNFRSF18):c.62C>T (p.Ala21Val)	TNFRSF18 (A21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180256	NM_004195.3(TNFRSF18):c.686C>A (p.Ser229Ter)	TNFRSF18 (S222* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified	GLikely benign
Select item 3180255	NM_004195.3(TNFRSF18):c.679G>A (p.Glu227Lys)	TNFRSF18 (E227K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3180254	NM_004195.3(TNFRSF18):c.673C>T (p.Arg225Trp)	TNFRSF18 (R225W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 2685786	GRCh37/hg19 1p36.33(chr1:849467-1207958)x3	AGRN, B3GALT6 +17 more	Copy number gain	not provided	GUncertain significance
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 2637990	NM_004195.3(TNFRSF18):c.18G>A (p.Ala6=)	TNFRSF18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637989	NM_004195.3(TNFRSF18):c.189C>T (p.Gly63=)	TNFRSF18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637988	NM_004195.3(TNFRSF18):c.*8C>T	TNFRSF18 (R175C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2622281	NM_004195.3(TNFRSF18):c.130G>C (p.Gly44Arg)	TNFRSF18 (G44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617853	NM_004195.3(TNFRSF18):c.32G>A (p.Arg11Gln)	TNFRSF18 (R11Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616801	NM_004195.3(TNFRSF18):c.*143C>T	TNFRSF18 (R220C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2601308	NM_004195.3(TNFRSF18):c.164C>T (p.Thr55Met)	TNFRSF18 (T55M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595175	NM_004195.3(TNFRSF18):c.43G>A (p.Gly15Ser)	TNFRSF18 (G15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592673	NM_004195.3(TNFRSF18):c.664G>A (p.Glu222Lys)	TNFRSF18 (E215K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 2568705	NM_004195.3(TNFRSF18):c.*63C>T	TNFRSF18 (A193V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2549059	NM_004195.3(TNFRSF18):c.113G>A (p.Arg38His)	TNFRSF18 (R38H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543242	NM_004195.3(TNFRSF18):c.*246G>C	TNFRSF18 (G254A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2540160	NM_004195.3(TNFRSF18):c.269G>A (p.Arg90Gln)	TNFRSF18 (R90Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2509734	NM_004195.3(TNFRSF18):c.134C>T (p.Thr45Met)	TNFRSF18 (T45M)	Single nucleotide variant (missense variant)	not specified	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 2492389	NM_004195.3(TNFRSF18):c.122T>C (p.Leu41Pro)	TNFRSF18 (L41P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489295	NM_004195.3(TNFRSF18):c.256T>C (p.Cys86Arg)	TNFRSF18 (C86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474687	NM_004195.3(TNFRSF18):c.358T>C (p.Phe120Leu)	TNFRSF18 (F120L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427661	NC_000001.10:g.(?_980719)_(1168648_?)dup	AGRN, B3GALT6 +9 more	Duplication	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2407123	NM_004195.3(TNFRSF18):c.161C>T (p.Thr54Met)	TNFRSF18 (T54M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392357	NM_004195.3(TNFRSF18):c.205G>A (p.Glu69Lys)	TNFRSF18 (E69K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389143	NM_004195.3(TNFRSF18):c.*42C>A	TNFRSF18 (S186Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2388211	NM_004195.3(TNFRSF18):c.*74C>T	TNFRSF18 (R197C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2387098	NM_004195.3(TNFRSF18):c.13G>A (p.Gly5Arg)	TNFRSF18 (G5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386795	NM_004195.3(TNFRSF18):c.82C>T (p.Pro28Ser)	TNFRSF18 (P28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379680	NM_004195.3(TNFRSF18):c.*24C>T	TNFRSF18 (P180L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2375611	NM_004195.3(TNFRSF18):c.26C>T (p.Ala9Val)	TNFRSF18 (A9V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350962	NM_004195.3(TNFRSF18):c.642C>T (p.Asp214=)	TNFRSF18 (T144M)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2343651	NM_004195.3(TNFRSF18):c.630G>A (p.Pro210=)	TNFRSF18 (R140H)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2327189	NM_004195.3(TNFRSF18):c.*89C>T	TNFRSF18 (R202W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2296812	NM_004195.3(TNFRSF18):c.629C>T (p.Pro210Leu)	TNFRSF18 (P203L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269391	NM_004195.3(TNFRSF18):c.*150G>C	TNFRSF18 (G222A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2254556	NM_004195.3(TNFRSF18):c.*182T>G	TNFRSF18 (C233G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2254386	NM_004195.3(TNFRSF18):c.636C>T (p.Thr212=)	TNFRSF18 (P142L)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2231936	NM_004195.3(TNFRSF18):c.147C>G (p.Cys49Trp)	TNFRSF18 (C49W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204437	NM_004195.3(TNFRSF18):c.260C>T (p.Thr87Met)	TNFRSF18 (T87M)	Single nucleotide variant (missense variant)	not specified	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 1808915	GRCh37/hg19 1p36.33(chr1:1129319-1264880)x1	ACAP3, B3GALT6 +10 more	Copy number loss	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 1808116	GRCh37/hg19 1p36.33(chr1:849467-1174365)x3	AGRN, B3GALT6 +15 more	Copy number gain	not provided	GUncertain significance
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 1706500	GRCh37/hg19 1p36.33-36.32(chr1:849466-2518608)x1	ACAP3, AGRN +60 more	Copy number loss	See cases	GPathogenic
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
Select item 1703627	GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)	TNFRSF18, TNFRSF4 +77 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1684638	Single allele	TMEM240, TMEM88B +181 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1449306	NC_000001.10:g.(?_989123)_(3160711_?)del	MIR429, MMEL1 +58 more	Deletion	Left ventricular noncompaction 8	GUncertain significance
Select item 1443760	NC_000001.10:g.(?_955553)_(3350375_?)del	AGRN, ANKRD65 +58 more	Deletion	Left ventricular noncompaction 8	GUncertain significance
Select item 1412663	NC_000001.10:g.(?_861322)_(3768971_?)del	ATAD3A, ACAP3 +74 more	Deletion	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 1341993	GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1	DNAJC11, DVL1 +101 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1341246	GRCh37/hg19 1p36.33-36.32(chr1:849466-2621542)x1	ACAP3, AGRN +62 more	Copy number loss	not provided	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 1328099	GRCh37/hg19 1p36.33-36.32(chr1:753552-4034574)x1	ACAP3, ACTRT2 +76 more	Copy number loss	not provided	GPathogenic
Select item 1008424	NC_000001.10:g.(?_948954)_(1284445_?)dup	AGRN, B3GALT6 +19 more	Duplication	not provided	GUncertain significance
Select item 988904	GRCh37/hg19 1p36.33(chr1:753462-1717335)x1	TMEM88B, TNFRSF18 +45 more	Copy number loss	not provided	GPathogenic
Select item 980940	GRCh37/hg19 1p36.33-36.31(chr1:1-5592835)x1	ACAP3, ACTRT2 +80 more	Copy number loss	not provided	GPathogenic
Select item 980936	GRCh37/hg19 1p36.33(chr1:849466-1976788)x1	ATAD3B, ATAD3C +49 more	Copy number loss	not provided	GPathogenic
Select item 980935	GRCh37/hg19 1p36.33(chr1:849466-2033256)x1	ACAP3, AGRN +50 more	Copy number loss	not provided	GPathogenic
Select item 980934	GRCh37/hg19 1p36.33(chr1:849466-1806659)x1	ACAP3, AGRN +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 976729	GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)	PUSL1, RER1 +98 more	Copy number loss	Harel-Yoon syndrome	GLikely pathogenic
Select item 833146	NC_000001.10:g.(?_955543)_(3350385_?)del	TMEM88B, TTLL10 +58 more	Deletion	Left ventricular noncompaction 8	GUncertain significance
Select item 832780	NC_000001.10:g.(?_955543)_(2238214_?)del	MMP23B, MRPL20 +46 more	Deletion	Congenital myasthenic syndrome 8	GPathogenic
Select item 832325	NC_000001.11:g.(?_1013554)_(1313808_?)del	AGRN, B3GALT6 +16 more	Deletion	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GUncertain significance
Select item 816486	GRCh37/hg19 1p36.33-36.32(chr1:82154-3349513)x3	ACAP3, ACTRT2 +66 more	Copy number gain	See cases	GPathogenic
Select item 814048	GRCh37/hg19 1p36.33-36.32(chr1:849466-4829059)x1	ACAP3, ACTRT2 +77 more	Copy number loss	not provided	GPathogenic
Select item 814047	GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)x1	ACAP3, ACTRT2 +77 more	Copy number loss	not provided	GPathogenic
Select item 814046	GRCh37/hg19 1p36.33-36.31(chr1:849466-6002955)x1	ACAP3, ACTRT2 +78 more	Copy number loss	not provided	GPathogenic
Select item 814045	GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1	ACAP3, ACOT7 +98 more	Copy number loss	not provided	GPathogenic
Select item 814044	GRCh37/hg19 1p36.33(chr1:849466-1649932)x1	TAS1R3, ATAD3A +42 more	Copy number loss	not provided	GUncertain significance
Select item 687879	GRCh37/hg19 1p36.33(chr1:854277-1165197)x1	AGRN, C1orf159 +14 more	Copy number loss	not provided	GUncertain significance
Select item 687066	GRCh37/hg19 1p36.33(chr1:958859-1211292)x3	AGRN, B3GALT6 +11 more	Copy number gain	not provided	GUncertain significance
Select item 685974	GRCh37/hg19 1p36.33(chr1:727731-2107858)x3	CFAP74, TNFRSF4 +50 more	Copy number gain	not provided	GUncertain significance
Select item 659614	NC_000001.10:g.(?_955543)_(2957600_?)del	TMEM88B, TNFRSF14 +57 more	Deletion	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 638124	GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	ACAP3, ACOT7 +148 more	Copy number loss	See cases	GPathogenic
Select item 638116	GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1	ACAP3, ACOT7 +100 more	Copy number loss	See cases	GPathogenic
Select item 635907	Single allele	ACAP3, ACOT7 +119 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 625817	GRCh37/hg19 1p36.33(chr1:568708-1283779)	ACAP3, AGRN +25 more	Copy number loss	not provided	GLikely pathogenic
Select item 625768	GRCh37/hg19 1p36.33-36.32(chr1:568708-2567832)	CFAP74, CPTP +62 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 625767	GRCh37/hg19 1p36.33-36.32(chr1:568708-3662949)	MEGF6, MIB2 +71 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic

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