ClinVar for Gene (Select 126789) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311751	NM_153339.3(PUSL1):c.463C>G (p.Leu155Val)	PUSL1 (L155V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311749	NM_153339.3(PUSL1):c.686T>G (p.Phe229Cys)	PUSL1 (F229C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311748	NM_153339.3(PUSL1):c.434C>T (p.Pro145Leu)	PUSL1 (P145L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3247720	NC_000001.10:g.(?_1146935)_(3768971_?)del	ACAP3, ACTRT2 +60 more	Deletion	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 3149877	NM_153339.3(PUSL1):c.872C>T (p.Ser291Phe)	PUSL1 (S291F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149876	NM_153339.3(PUSL1):c.767C>T (p.Thr256Met)	PUSL1 (T279M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149874	NM_153339.3(PUSL1):c.463C>T (p.Leu155Phe)	PUSL1 (L155F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149873	NM_153339.3(PUSL1):c.404C>T (p.Ala135Val)	PUSL1 (A135V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3149872	NM_153339.3(PUSL1):c.271C>T (p.Pro91Ser)	LOC129929111, PUSL1 (P91S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149871	NM_153339.3(PUSL1):c.184T>A (p.Ser62Thr)	LOC129929111, PUSL1 (S62T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149870	NM_153339.3(PUSL1):c.14C>A (p.Pro5Gln)	PUSL1 (P5Q)	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 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 2620978	NM_153339.3(PUSL1):c.232C>G (p.Leu78Val)	LOC129929111, PUSL1 (L78V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619748	NM_153339.3(PUSL1):c.445C>T (p.Arg149Cys)	PUSL1 (R149C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604254	NM_153339.3(PUSL1):c.211G>C (p.Ala71Pro)	LOC129929111, PUSL1 (A71P)	Single nucleotide variant (missense variant +1 more)	not specified	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 2566329	NM_153339.3(PUSL1):c.106C>A (p.Arg36Ser)	PUSL1 (R36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558222	NM_153339.3(PUSL1):c.446G>A (p.Arg149His)	PUSL1 (R149H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552496	NM_153339.3(PUSL1):c.484A>G (p.Met162Val)	PUSL1 (M162V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2538290	NM_153339.3(PUSL1):c.386C>G (p.Thr129Ser)	PUSL1 (T129S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517975	NM_153339.3(PUSL1):c.272C>G (p.Pro91Arg)	LOC129929111, PUSL1 (P91R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513379	NM_153339.3(PUSL1):c.835C>T (p.Leu279Phe)	PUSL1 (L279F +1 more)	Single nucleotide variant (missense variant +1 more)	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 2488780	NM_153339.3(PUSL1):c.450C>G (p.Asn150Lys)	PUSL1 (N150K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463955	NM_153339.3(PUSL1):c.677G>A (p.Ser226Asn)	PUSL1 (S226N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455574	NM_153339.3(PUSL1):c.118G>A (p.Val40Ile)	PUSL1 (V40I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399534	NM_153339.3(PUSL1):c.169G>A (p.Val57Ile)	LOC129929111, PUSL1 (V57I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395198	NM_153339.3(PUSL1):c.884A>C (p.Gln295Pro)	PUSL1 (Q318P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394272	NM_153339.3(PUSL1):c.848T>C (p.Leu283Pro)	PUSL1 (L306P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374817	NM_153339.3(PUSL1):c.472G>T (p.Asp158Tyr)	PUSL1 (D158Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336545	NM_153339.3(PUSL1):c.827G>T (p.Gly276Val)	PUSL1 (G299V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324053	NM_153339.3(PUSL1):c.875G>A (p.Cys292Tyr)	PUSL1 (C315Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322102	NM_153339.3(PUSL1):c.189C>A (p.Ser63Arg)	LOC129929111, PUSL1 (S63R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319041	NM_153339.3(PUSL1):c.106C>T (p.Arg36Cys)	PUSL1 (R36C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311339	NM_153339.3(PUSL1):c.89C>T (p.Ala30Val)	LOC129929109, PUSL1 (A30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307579	NM_153339.3(PUSL1):c.673G>A (p.Glu225Lys)	PUSL1 (E225K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306043	NM_153339.3(PUSL1):c.777G>T (p.Glu259Asp)	PUSL1 (E259D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300762	NM_153339.3(PUSL1):c.671T>C (p.Phe224Ser)	PUSL1 (F224S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234696	NM_153339.3(PUSL1):c.619C>T (p.Pro207Ser)	PUSL1 (P207S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225205	NM_153339.3(PUSL1):c.826G>A (p.Gly276Ser)	PUSL1 (G276S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216925	NM_153339.3(PUSL1):c.421C>T (p.Arg141Cys)	PUSL1 (R141C)	Single nucleotide variant (missense variant +1 more)	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 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 1512587	NC_000001.10:g.(?_1235211)_(1326995_?)del	ACAP3, AURKAIP1 +7 more	Deletion	not provided	GUncertain significance
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 1330537	NM_153339.3(PUSL1):c.693T>G (p.Tyr231Ter)	PUSL1 (Y231*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
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 685974	GRCh37/hg19 1p36.33(chr1:727731-2107858)x3	CFAP74, TNFRSF4 +50 more	Copy number gain	not provided	GUncertain significance
Select item 685953	GRCh37/hg19 1p36.33(chr1:1233200-1453416)x1	ACAP3, ANKRD65 +14 more	Copy number loss	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
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 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 565056	GRCh37/hg19 1p36.33(chr1:849466-1314437)x1	NOC2L, C1QTNF12 +26 more	Copy number loss	not provided	GPathogenic
Select item 541215	NC_000001.11:g.(?_1020153)_(1313808_?)del	ACAP3, AGRN +68 more	Deletion	Congenital myasthenic syndrome 8	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

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