ClinVar for Gene (Select 8764) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327502	NM_003820.4(TNFRSF14):c.482T>G (p.Leu161Arg)	TNFRSF14 (L161R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327499	NM_003820.4(TNFRSF14):c.714C>G (p.Ile238Met)	TNFRSF14 (I238M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3327498	NM_003820.4(TNFRSF14):c.406G>A (p.Ala136Thr)	TNFRSF14 (A136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257958	NM_003820.4(TNFRSF14):c.602G>A (p.Trp201Ter)	TNFRSF14 (W201*)	Single nucleotide variant (nonsense +1 more)	Neoplasm	OUncertain significance
Select item 3257919	NM_003820.4(TNFRSF14):c.236_239del (p.Pro79fs)	TNFRSF14 (P79fs)	Deletion (frameshift variant)	Neoplasm	OLikely oncogenic
Select item 3257857	NM_003820.4(TNFRSF14):c.36G>A (p.Trp12Ter)	TNFRSF14, TNFRSF14-AS1 (W12*)	Single nucleotide variant (nonsense)	Neoplasm	OLikely oncogenic
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 3180247	NM_003820.4(TNFRSF14):c.701T>C (p.Val234Ala)	TNFRSF14 (V234A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3180246	NM_003820.4(TNFRSF14):c.668T>C (p.Ile223Thr)	TNFRSF14 (I223T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180245	NM_003820.4(TNFRSF14):c.37A>G (p.Arg13Gly)	TNFRSF14, TNFRSF14-AS1 (R13G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180244	NM_003820.4(TNFRSF14):c.31C>T (p.Pro11Ser)	TNFRSF14, TNFRSF14-AS1 (P11S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3180242	NM_003820.4(TNFRSF14):c.132G>C (p.Glu44Asp)	TNFRSF14 (E44D)	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 3063066	GRCh37/hg19 1p36.33-36.31(chr1:1959612-5471235)x1	ACTRT2, AJAP1 +27 more	Copy number loss	not specified	GPathogenic
Select item 2685792	GRCh37/hg19 1p36.33-36.32(chr1:1687675-3638712)x3	ACTRT2, ARHGEF16 +25 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 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 2623122	NM_003820.4(TNFRSF14):c.172A>C (p.Ser58Arg)	TNFRSF14 (S58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574677	GRCh37/hg19 1p36.33-36.31(chr1:1957148-6553454)	ACOT7, ACTRT2 +40 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
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 2558716	NM_003820.4(TNFRSF14):c.463A>G (p.Thr155Ala)	TNFRSF14 (T155A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545933	NM_003820.4(TNFRSF14):c.560G>T (p.Trp187Leu)	TNFRSF14 (W187L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512736	NM_003820.4(TNFRSF14):c.418G>A (p.Ala140Thr)	TNFRSF14 (A140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509319	NM_003820.4(TNFRSF14):c.385G>A (p.Val129Ile)	TNFRSF14 (V129I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2499639	GRCh38/hg38 1p36.32(chr1:2518272-4413203)	ACTRT2, ARHGEF16 +88 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2488654	NM_003820.4(TNFRSF14):c.316C>T (p.Arg106Cys)	TNFRSF14 (R106C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482933	NM_003820.4(TNFRSF14):c.343G>C (p.Glu115Gln)	TNFRSF14 (E115Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366779	NM_003820.4(TNFRSF14):c.500C>T (p.Pro167Leu)	TNFRSF14 (P167L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358930	NM_003820.4(TNFRSF14):c.532G>A (p.Glu178Lys)	TNFRSF14 (E178K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295087	NM_003820.4(TNFRSF14):c.805G>A (p.Val269Met)	TNFRSF14 (V269M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2283887	NM_003820.4(TNFRSF14):c.689C>T (p.Pro230Leu)	TNFRSF14 (P230L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282789	NM_003820.4(TNFRSF14):c.70G>A (p.Val24Met)	TNFRSF14 (V24M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808734	GRCh37/hg19 1p36.33-36.32(chr1:2173570-5023430)x1	ACTRT2, AJAP1 +24 more	Copy number loss	not provided	GPathogenic
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 1808375	GRCh37/hg19 1p36.33-36.32(chr1:2194087-4738355)x3	C1orf174, ACTRT2 +24 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 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 1177499	GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1	SMIM1, ZBTB48 +47 more	Copy number loss	Chromosome 1p36 deletion syndrome	Gnot provided
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 976729	GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)	PUSL1, RER1 +98 more	Copy number loss	Harel-Yoon syndrome	GLikely pathogenic
Select item 974581	Single allele	ACTRT2, ARHGEF16 +32 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 833146	NC_000001.10:g.(?_955543)_(3350385_?)del	TMEM88B, TTLL10 +58 more	Deletion	Left ventricular noncompaction 8	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 787525	NM_003820.4(TNFRSF14):c.9T>C (p.Pro3=)	TNFRSF14, TNFRSF14-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 687065	GRCh37/hg19 1p36.32(chr1:2469637-2628158)x3	MMEL1, PRXL2B +2 more	Copy number gain	not provided	GUncertain significance
Select item 666432	GRCh37/hg19 1p36.33-36.32(chr1:1723651-3444846)x1	TNFRSF14, TTC34 +20 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 659614	NC_000001.10:g.(?_955543)_(2957600_?)del	TMEM88B, TNFRSF14 +57 more	Deletion	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 638130	GRCh37/hg19 1p36.33-36.32(chr1:2261222-5304873)x1	ACTRT2, AJAP1 +23 more	Copy number loss	See cases	GPathogenic
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 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
Select item 625766	GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363)	ANKRD65, ARHGEF16 +97 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 625765	GRCh37/hg19 1p36.33-36.31(chr1:1471075-5831645)	ACTRT2, AJAP1 +41 more	Copy number gain	not provided	GPathogenic
Select item 565064	GRCh37/hg19 1p36.32(chr1:2419098-3222541)x3	ACTRT2, HES5 +7 more	Copy number gain	not provided	GUncertain significance
Select item 565063	GRCh37/hg19 1p36.32(chr1:2397432-2812958)x1	HES5, MMEL1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 565062	GRCh37/hg19 1p36.33-36.32(chr1:2190850-3503606)x1	ACTRT2, ARHGEF16 +14 more	Copy number loss	not provided	GPathogenic
Select item 565059	GRCh37/hg19 1p36.33-36.23(chr1:849466-7305595)x1	ACAP3, ACOT7 +98 more	Copy number loss	not provided	GPathogenic
Select item 565058	GRCh37/hg19 1p36.33-36.32(chr1:849466-4262915)x1	ACAP3, ACTRT2 +76 more	Copy number loss	not provided	GPathogenic
Select item 523269	GRCh37/hg19 1p36.33-36.31(chr1:834101-6076140)	CCDC27, MIR200B +79 more	Copy number loss	Primary dilated cardiomyopathy +2 more	GPathogenic
Select item 443883	GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1	ACAP3, ACOT7 +106 more	Copy number loss	See cases	GPathogenic
Select item 443517	GRCh37/hg19 1p36.33-36.32(chr1:849466-4048535)x1	ACAP3, ACTRT2 +76 more	Copy number loss	See cases	GPathogenic
Select item 443478	GRCh37/hg19 1p36.33-36.23(chr1:849466-7637060)x1	ACAP3, ACOT7 +98 more	Copy number loss	See cases	GPathogenic
Select item 443250	GRCh37/hg19 1p36.33-36.32(chr1:849466-5352492)x1	ACAP3, ACTRT2 +77 more	Copy number loss	See cases	GPathogenic
Select item 443237	GRCh37/hg19 1p36.33-36.32(chr1:849466-2554275)x1	ACAP3, AGRN +61 more	Copy number loss	See cases	GPathogenic
Select item 443115	GRCh37/hg19 1p36.33-36.32(chr1:1415800-5007235)x1	ACTRT2, AJAP1 +43 more	Copy number loss	See cases	GPathogenic
Select item 443012	GRCh37/hg19 1p36.33-36.32(chr1:849466-2748837)x1	ACAP3, AGRN +62 more	Copy number loss	See cases	GPathogenic
Select item 442919	GRCh37/hg19 1p36.33-36.31(chr1:849466-6505278)x1	ACAP3, ACOT7 +88 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442107	GRCh37/hg19 1p36.33-36.32(chr1:849466-2607016)x1	ACAP3, AGRN +62 more	Copy number loss	See cases	GPathogenic
Select item 441627	GRCh37/hg19 1p36.33-36.31(chr1:849466-6374209)x1	ACAP3, ACOT7 +86 more	Copy number loss	See cases	GPathogenic
Select item 427642	GRCh37/hg19 1p36.33-36.32(chr1:852863-4203509)x3	ATAD3B, ATAD3A +76 more	Copy number gain	Distal trisomy 1p36	GPathogenic
Select item 394071	GRCh37/hg19 1p36.33-36.32(chr1:564424-3582058)x1	C1orf159, CALML6 +71 more	Copy number loss	See cases	GPathogenic
Select item 393899	GRCh37/hg19 1p36.33-36.32(chr1:19225-4401691)x3	ACAP3, C1orf174 +79 more	Copy number gain	See cases	GPathogenic
Select item 253626	GRCh37/hg19 1p36.33-36.32(chr1:874455-3177921)x1	ACAP3, ACTRT2 +64 more	Copy number loss	See cases	GPathogenic
Select item 253595	GRCh37/hg19 1p36.33-36.32(chr1:874455-2577794)x1	ACAP3, AGRN +62 more	Copy number loss	See cases	GPathogenic
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 252976	GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	ACAP3, ACOT7 +162 more	Copy number loss	See cases	GPathogenic

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