ClinVar for Gene (Select 11079) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	MEGF6, MIB2 +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 3153008	NM_007033.5(RER1):c.438C>G (p.Phe146Leu)	RER1 (F146L)	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 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	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2599716	NM_007033.5(RER1):c.274A>G (p.Met92Val)	RER1 (M92V)	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 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 2252448	NM_007033.5(RER1):c.275T>A (p.Met92Lys)	RER1 (M92K)	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 1808734	GRCh37/hg19 1p36.33-36.32(chr1:2173570-5023430)x1	ACTRT2, AJAP1 +24 more	Copy number loss	not provided	GPathogenic
Select item 1808716	GRCh37/hg19 1p36.33-36.32(chr1:2056695-2447725)x1	FAAP20, MORN1 +6 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	UBE2J2, VWA1 +58 more	Deletion	Left ventricular noncompaction 8	GUncertain significance
Select item 1443760	NC_000001.10:g.(?_955553)_(3350375_?)del	ACAP3, ACTRT2 +58 more	Deletion	Left ventricular noncompaction 8	GUncertain significance
Select item 1412663	NC_000001.10:g.(?_861322)_(3768971_?)del	AGRN, MIB2 +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 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 876386	NM_002617.4(PEX10):c.*905A>C	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 876385	NM_002617.4(PEX10):c.*951G>C	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 875398	NM_002617.4(PEX10):c.*401A>C	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 875345	NM_002617.4(PEX10):c.*445G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 875344	NM_002617.4(PEX10):c.*595G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 875343	NM_002617.4(PEX10):c.*643C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 875342	NM_002617.4(PEX10):c.*676C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely benign
Select item 875341	NM_002617.4(PEX10):c.*686C>G	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 874434	NM_002617.4(PEX10):c.*824G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 833146	NC_000001.10:g.(?_955543)_(3350385_?)del	ACAP3, ACTRT2 +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 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	ANKRD65, ATAD3A +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 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 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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +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 296265	NM_002617.4(PEX10):c.*352G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GBenign
Select item 296264	NM_002617.4(PEX10):c.*410G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296263	NM_002617.4(PEX10):c.*420G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296262	NM_002617.4(PEX10):c.*499G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296261	NM_002617.4(PEX10):c.*594C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296260	NM_002617.4(PEX10):c.*627C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296259	NM_002617.4(PEX10):c.*688G>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296258	NM_002617.4(PEX10):c.*732G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296257	NM_002617.4(PEX10):c.*744dup	PEX10, RER1	Duplication (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 296256	NM_002617.4(PEX10):c.*782C>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296255	NM_002617.4(PEX10):c.*798C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296254	NM_002617.4(PEX10):c.*835C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296253	NM_002617.4(PEX10):c.*838C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296252	NM_002617.4(PEX10):c.*854G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 253626	GRCh37/hg19 1p36.33-36.32(chr1:874455-3177921)x1	ACAP3, ACTRT2 +64 more	Copy number loss	See cases	GPathogenic

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