ClinVar for Gene (Select 339456) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327124	NM_178545.4(TMEM52):c.38T>G (p.Leu13Arg)	TMEM52 (L13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247936	NC_000001.10:g.(?_1749256)_(1961721_?)dup	CALML6, CFAP74 +3 more	Duplication	not provided	GUncertain significance
Select item 3247935	NC_000001.10:g.(?_1718770)_(1961721_?)dup	CALML6, CFAP74 +3 more	Duplication	not provided	GUncertain significance
Select item 3247933	NC_000001.10:g.(?_1718770)_(2343941_?)del	CALML6, CFAP74 +9 more	Deletion	not provided	GPathogenic
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 3242275	GRCh37/hg19 1p36.33(chr1:1800954-2052629)x3	CALML6, CFAP74 +4 more	Copy number gain	not provided	GUncertain significance
Select item 3179531	NM_178545.4(TMEM52):c.596C>T (p.Thr199Ile)	TMEM52 (T199I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179530	NM_178545.4(TMEM52):c.58C>T (p.Leu20Phe)	TMEM52 (L20F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179529	NM_178545.4(TMEM52):c.56C>A (p.Pro19Gln)	TMEM52 (P19Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179528	NM_178545.4(TMEM52):c.556C>G (p.Leu186Val)	TMEM52 (L186V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179527	NM_178545.4(TMEM52):c.52C>G (p.Leu18Val)	TMEM52 (L18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179526	NM_178545.4(TMEM52):c.517C>T (p.Leu173Phe)	TMEM52 (L173F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179525	NM_178545.4(TMEM52):c.507A>C (p.Glu169Asp)	TMEM52 (E169D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179524	NM_178545.4(TMEM52):c.442C>A (p.Leu148Met)	TMEM52 (L148M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179523	NM_178545.4(TMEM52):c.324C>G (p.Asp108Glu)	TMEM52 (D108E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179522	NM_178545.4(TMEM52):c.298G>A (p.Val100Met)	TMEM52 (V100M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179521	NM_178545.4(TMEM52):c.145C>T (p.Arg49Cys)	TMEM52 (R49C)	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 2685792	GRCh37/hg19 1p36.33-36.32(chr1:1687675-3638712)x3	ACTRT2, ARHGEF16 +25 more	Copy number gain	not provided	GUncertain significance
Select item 2685791	GRCh37/hg19 1p36.33(chr1:1616990-1890118)x3	CALML6, CDK11A +6 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 2640261	GRCh37/hg19 1p36.33(chr1:1569581-2005714)x1	CALML6, CDK11A +10 more	Copy number loss	not provided	GLikely pathogenic
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 2557918	NM_178545.4(TMEM52):c.35G>A (p.Arg12Gln)	TMEM52 (R12Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523163	NM_178545.4(TMEM52):c.284G>A (p.Arg95Gln)	TMEM52 (R95Q)	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 2410761	NM_178545.4(TMEM52):c.419C>T (p.Ser140Phe)	TMEM52 (S140F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402484	NM_178545.4(TMEM52):c.14C>A (p.Pro5Gln)	TMEM52 (P5Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378104	NM_178545.4(TMEM52):c.106G>T (p.Gly36Cys)	TMEM52 (G36C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373338	NM_178545.4(TMEM52):c.185C>T (p.Ala62Val)	TMEM52 (A62V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359158	NM_178545.4(TMEM52):c.472G>A (p.Asp158Asn)	TMEM52 (D158N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353773	NM_178545.4(TMEM52):c.314T>G (p.Met105Arg)	TMEM52 (M105R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329174	NM_178545.4(TMEM52):c.166G>T (p.Val56Leu)	TMEM52 (V56L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328492	NM_178545.4(TMEM52):c.565A>G (p.Thr189Ala)	TMEM52 (T189A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809254	GRCh37/hg19 1p36.33(chr1:1732310-2040647)x3	CALML6, CFAP74 +4 more	Copy number gain	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 1808064	GRCh37/hg19 1p36.33(chr1:1751300-2107605)x3	CALML6, CFAP74 +4 more	Copy number gain	not provided	GUncertain significance
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 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 1409942	NC_000001.10:g.(?_1724664)_(2338414_?)dup	CALML6, CFAP74 +9 more	Duplication	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
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 980940	GRCh37/hg19 1p36.33-36.31(chr1:1-5592835)x1	ACAP3, ACTRT2 +80 more	Copy number loss	not provided	GPathogenic
Select item 980937	GRCh37/hg19 1p36.33(chr1:1791789-2033256)x3	CALML6, CFAP74 +4 more	Copy number gain	not provided	GUncertain significance
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 980933	GRCh37/hg19 1p36.33(chr1:1717581-1910879)x1	CALML6, CFAP74 +2 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 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 832780	NC_000001.10:g.(?_955543)_(2238214_?)del	MMP23B, MRPL20 +46 more	Deletion	Congenital myasthenic syndrome 8	GPathogenic
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 685974	GRCh37/hg19 1p36.33(chr1:727731-2107858)x3	CFAP74, TNFRSF4 +50 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 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 583548	NC_000001.10:g.(?_1249188)_(1961741_?)del	ANKRD65, ATAD3A +27 more	Deletion	Idiopathic generalized epilepsy	GUncertain significance
Select item 565061	GRCh37/hg19 1p36.33(chr1:1815349-2056245)x3	PRKCZ, CALML6 +4 more	Copy number gain	not provided	GUncertain significance
Select item 565060	GRCh37/hg19 1p36.33(chr1:1129318-2040693)x1	MRPL20, ATAD3B +38 more	Copy number loss	not provided	GLikely pathogenic
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 565057	GRCh37/hg19 1p36.33(chr1:849466-2240632)x1	PRKCZ, NADK +52 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 443771	GRCh37/hg19 1p36.33-36.32(chr1:849466-2330338)x1	ACAP3, AGRN +54 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

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