ClinVar for Gene (Select 8510) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2640261	GRCh37/hg19 1p36.33(chr1:1569581-2005714)x1	NADK, PRKCZ +10 more	Copy number loss	not provided	GLikely pathogenic
Select item 2638049	NM_006983.2(MMP23B):c.924C>T (p.Thr308=)	MMP23B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615600	NM_006983.2(MMP23B):c.133G>A (p.Val45Met)	MMP23B (V45M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570762	GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	TMEM88B, TNFRSF14 +79 more	Copy number loss	not provided	GPathogenic
Select item 2569262	NM_006983.2(MMP23B):c.124G>A (p.Ala42Thr)	MMP23B (A42T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524942	NM_006983.2(MMP23B):c.1087G>A (p.Val363Ile)	MMP23B (V363I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2470811	NM_006983.2(MMP23B):c.46G>A (p.Val16Ile)	MMP23B (V16I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392401	NM_006983.2(MMP23B):c.895A>C (p.Thr299Pro)	MMP23B (T299P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367183	NM_006983.2(MMP23B):c.23C>T (p.Pro8Leu)	MMP23B (P8L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333806	NM_006983.2(MMP23B):c.44G>T (p.Gly15Val)	MMP23B (G15V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290515	NM_006983.2(MMP23B):c.106C>G (p.Leu36Val)	MMP23B (L36V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261831	NM_006983.2(MMP23B):c.1162G>C (p.Val388Leu)	MMP23B (V388L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259333	NM_006983.2(MMP23B):c.1061C>T (p.Ala354Val)	MMP23B (A354V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 1684638	Single allele	TMEM240, TMEM88B +181 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1511801	NC_000001.10:g.(?_1550840)_(1724770_?)dup	MIB2, MMP23B +6 more	Duplication	not provided	GUncertain significance
Select item 1449306	NC_000001.10:g.(?_989123)_(3160711_?)del	RNF223, SCNN1D +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 1410161	NC_000001.10:g.(?_1455521)_(1567753_?)del	ATAD3A, FNDC10 +4 more	Deletion	not provided	GUncertain significance
Select item 1341993	GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1	AURKAIP1, B3GALT6 +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 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)	ISG15, SLC35E2A +98 more	Copy number loss	Harel-Yoon syndrome	GLikely pathogenic
Select item 833146	NC_000001.10:g.(?_955543)_(3350385_?)del	ACAP3, ACTRT2 +58 more	Deletion	Left ventricular noncompaction 8	GUncertain significance
Select item 832780	NC_000001.10:g.(?_955543)_(2238214_?)del	C1orf159, ANKRD65 +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 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 659614	NC_000001.10:g.(?_955543)_(2957600_?)del	B3GALT6, C1QTNF12 +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 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 442836	GRCh37/hg19 1p36.33(chr1:849466-1663402)x3	ACAP3, AGRN +43 more	Copy number gain	See cases	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +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 394133	GRCh37/hg19 1p36.33(chr1:1538143-2140271)x1	CALML6, CDK11A +12 more	Copy number loss	See cases	GPathogenic
Select item 394071	GRCh37/hg19 1p36.33-36.32(chr1:564424-3582058)x1	ACAP3, ACTRT2 +71 more	Copy number loss	See cases	GPathogenic
Select item 393899	GRCh37/hg19 1p36.33-36.32(chr1:19225-4401691)x3	ARHGEF16, PLCH2 +79 more	Copy number gain	See cases	GPathogenic
Select item 393731	GRCh37/hg19 1p36.33(chr1:1477184-2239438)x1	CALML6, CDK11A +15 more	Copy number loss	See cases	GLikely pathogenic
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 253365	GRCh37/hg19 1p36.33(chr1:1309373-2043694)x4	SLC35E2B, CALML6 +23 more	Copy number gain	See cases	GLikely pathogenic
Select item 252976	GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	ACAP3, ACOT7 +162 more	Copy number loss	See cases	GPathogenic
Select item 221357	chr1:909238-16736132 complex variant	AADACL3, AADACL4 +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	C1orf159, C1orf167 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 160923	GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	ACAP3, AGRN +244 more	Copy number loss	See cases	GPathogenic
Select item 154687	GRCh38/hg38 1p36.33-36.32(chr1:911300-2963389)x1	UBE2J2, VWA1 +247 more	Copy number loss	See cases	GPathogenic
Select item 154682	GRCh38/hg38 1p36.33-36.32(chr1:1515661-2349832)x3	ATAD3A, CALML6 +84 more	Copy number gain	See cases	GUncertain significance
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	ACAP3, ACOT7 +470 more	Copy number loss	See cases	GPathogenic

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