ClinVar for Gene (Select 65220) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 194

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3173151	NM_023018.5(NADK):c.494G>A (p.Arg165Gln)	NADK (R165Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173149	NM_023018.5(NADK):c.82G>A (p.Gly28Ser)	NADK (G28S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173147	NM_023018.5(NADK):c.394-48A>T	NADK (R261W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173143	NM_023018.5(NADK):c.296C>T (p.Thr99Met)	NADK (T12M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173141	NM_023018.5(NADK):c.264-1860C>G	NADK (A169G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173139	NM_023018.5(NADK):c.264-1861G>A	NADK (A169T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173133	NM_023018.5(NADK):c.263+2205C>A	NADK (P140Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3173124	NM_023018.5(NADK):c.263+2126G>A	NADK (G114R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173119	NM_023018.5(NADK):c.28A>G (p.Met10Val)	NADK (M10V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173115	NM_023018.5(NADK):c.187C>T (p.Arg63Cys)	NADK (R63C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173102	NM_023018.5(NADK):c.1231C>T (p.Arg411Trp)	NADK (R324W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173085	NM_023018.5(NADK):c.874C>T (p.Pro292Ser)	NADK (P260S +3 more)	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 2672290	NM_023018.5(NADK):c.1310AGG[10] (p.Glu445_Gly446insGlu)	NADK	Microsatellite (inframe_insertion)	not specified	GBenign
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 2638062	NM_023018.5(NADK):c.263+2107G>A	NADK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638061	NM_023018.5(NADK):c.297G>A (p.Thr99=)	NADK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638060	NM_023018.5(NADK):c.858G>A (p.Val286=)	NADK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621428	NM_023018.5(NADK):c.31A>T (p.Asn11Tyr)	NADK (N11Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615196	NM_023018.5(NADK):c.749G>A (p.Gly250Glu)	NADK (G218E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612496	NM_023018.5(NADK):c.1304A>G (p.His435Arg)	NADK (H580R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607844	NM_023018.5(NADK):c.264-1794C>T	NADK (T191I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595213	NM_023018.5(NADK):c.393+61C>T	NADK (H256Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595135	NM_023018.5(NADK):c.264-1915G>A	NADK (E151K)	Single nucleotide variant (missense variant +1 more)	not specified	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 2546776	NM_023018.5(NADK):c.1220C>T (p.Ser407Phe)	NADK (S552F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537538	NM_023018.5(NADK):c.109C>A (p.Pro37Thr)	NADK (P37T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521759	NM_023018.5(NADK):c.1285G>A (p.Val429Ile)	NADK (V429I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517686	NM_023018.5(NADK):c.191C>G (p.Ser64Cys)	NADK (S64C)	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 2472525	NM_023018.5(NADK):c.393+7G>A	NADK (G238R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402886	NM_023018.5(NADK):c.880T>C (p.Ser294Pro)	NADK (S262P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394779	NM_023018.5(NADK):c.51C>A (p.Asp17Glu)	NADK (D17E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382937	NM_023018.5(NADK):c.1015A>C (p.Asn339His)	NADK (N307H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377149	NM_023018.5(NADK):c.1003A>G (p.Met335Val)	NADK (M248V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357352	NM_023018.5(NADK):c.263+2165G>A	NADK (V127I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356976	NM_023018.5(NADK):c.393+60C>G	NADK (I255M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356514	NM_023018.5(NADK):c.393+47G>A	NADK (G251E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350314	NM_023018.5(NADK):c.264-1869T>C	NADK (V166A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345529	NM_023018.5(NADK):c.264-1858G>A	NADK (A170T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298064	NM_023018.5(NADK):c.393+38A>T	NADK (H248L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284660	NM_023018.5(NADK):c.394-12C>T	NADK (L273F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273100	NM_023018.5(NADK):c.1268A>G (p.Gln423Arg)	NADK (Q336R +3 more)	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 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 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 974581	Single allele	ACTRT2, ARHGEF16 +32 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
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 791769	NM_023018.5(NADK):c.393+41G>T	NADK (G249V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 762412	NM_023018.5(NADK):c.1017C>T (p.Asn339=)	NADK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 752339	NM_023018.5(NADK):c.264-1916C>T	NADK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 716794	NM_023018.5(NADK):c.263+2124C>T	NADK (T113I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 716793	NM_023018.5(NADK):c.264-1872C>T	NADK (P165L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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

<< First< Prev

Page of 2