ClinVar for Gene (Select 55229) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336602	NM_018216.4(PANK4):c.847G>A (p.Asp283Asn)	PANK4 (D283N)	Single nucleotide variant (missense variant)	Cataract 49	GUncertain significance
Select item 3304193	NM_018216.4(PANK4):c.230C>T (p.Pro77Leu)	PANK4 (P77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304192	NM_018216.4(PANK4):c.781G>T (p.Ala261Ser)	PANK4 (A261S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304191	NM_018216.4(PANK4):c.2216G>A (p.Arg739His)	PANK4 (R739H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304190	NM_018216.4(PANK4):c.601G>T (p.Val201Leu)	PANK4 (V201L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304189	NM_018216.4(PANK4):c.2279G>A (p.Arg760Gln)	PANK4 (R760Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3304188	NM_018216.4(PANK4):c.1717G>A (p.Ala573Thr)	PANK4 (A573T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3208349	NM_018216.4(PANK4):c.953G>A (p.Arg318His)	PANK4 (R318H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208348	NM_018216.4(PANK4):c.344C>G (p.Thr115Arg)	PANK4 (T115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208346	NM_018216.4(PANK4):c.214G>C (p.Glu72Gln)	PANK4 (E72Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208345	NM_018216.4(PANK4):c.1913G>A (p.Arg638Lys)	PANK4 (R638K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208344	NM_018216.4(PANK4):c.1702G>A (p.Asp568Asn)	PANK4 (D568N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208343	NM_018216.4(PANK4):c.1628G>A (p.Arg543His)	PANK4 (R543H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208342	NM_018216.4(PANK4):c.1627C>T (p.Arg543Cys)	PANK4 (R543C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208341	NM_018216.4(PANK4):c.1193C>T (p.Pro398Leu)	PANK4 (P398L)	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 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 2638088	NM_018216.4(PANK4):c.795C>T (p.Leu265=)	PANK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638087	NM_018216.4(PANK4):c.1284G>A (p.Pro428=)	PANK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638086	NM_018216.4(PANK4):c.1293C>T (p.Tyr431=)	PANK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638085	NM_018216.4(PANK4):c.2205C>T (p.His735=)	PANK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617122	NM_018216.4(PANK4):c.1639G>T (p.Ala547Ser)	PANK4 (A547S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609198	NM_018216.4(PANK4):c.1930G>C (p.Gly644Arg)	PANK4 (G644R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606302	NM_018216.4(PANK4):c.746A>G (p.Asn249Ser)	PANK4 (N249S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589562	NM_018216.4(PANK4):c.1202G>A (p.Arg401Gln)	PANK4 (R401Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2585654	NM_018216.4(PANK4):c.393A>G (p.Lys131=)	PANK4	Single nucleotide variant (synonymous variant)	Cataract 49	GBenign
Select item 2585653	NM_018216.4(PANK4):c.1640C>T (p.Ala547Val)	PANK4 (A547V)	Single nucleotide variant (missense variant)	Cataract 49	GBenign
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 2547522	NM_018216.4(PANK4):c.713T>C (p.Leu238Pro)	PANK4 (L238P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529460	NM_018216.4(PANK4):c.1318G>A (p.Asp440Asn)	PANK4 (D440N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508427	NM_018216.4(PANK4):c.1921C>G (p.Leu641Val)	PANK4 (L641V)	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 2499639	GRCh38/hg38 1p36.32(chr1:2518272-4413203)	ACTRT2, ARHGEF16 +88 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2495701	NM_018216.4(PANK4):c.203G>T (p.Gly68Val)	PANK4 (G68V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472218	NM_018216.4(PANK4):c.296C>T (p.Thr99Ile)	PANK4 (T99I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408129	NM_018216.4(PANK4):c.580A>G (p.Ile194Val)	PANK4 (I194V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387571	NM_018216.4(PANK4):c.1597G>A (p.Val533Met)	PANK4 (V533M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358333	NM_018216.4(PANK4):c.2101G>A (p.Asp701Asn)	PANK4 (D701N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354180	NM_018216.4(PANK4):c.1192C>A (p.Pro398Thr)	PANK4 (P398T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354102	NM_018216.4(PANK4):c.2035G>T (p.Val679Leu)	PANK4 (V679L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344173	NM_018216.4(PANK4):c.1168A>T (p.Met390Leu)	PANK4 (M390L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337299	NM_018216.4(PANK4):c.2156A>T (p.Asp719Val)	PANK4 (D719V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286689	NM_018216.4(PANK4):c.1849T>G (p.Cys617Gly)	PANK4 (C617G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286074	NM_018216.4(PANK4):c.415C>T (p.Arg139Trp)	PANK4 (R139W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264048	NM_018216.4(PANK4):c.212C>T (p.Thr71Ile)	PANK4 (T71I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258577	NM_018216.4(PANK4):c.1208G>A (p.Arg403Gln)	PANK4 (R403Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250774	NM_018216.4(PANK4):c.1469C>T (p.Thr490Ile)	PANK4 (T490I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244391	NM_018216.4(PANK4):c.20G>A (p.Ser7Asn)	PANK4 (S7N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235940	NM_018216.4(PANK4):c.490C>A (p.His164Asn)	PANK4 (H164N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228861	NM_018216.4(PANK4):c.1646G>A (p.Gly549Asp)	PANK4 (G549D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228216	NM_018216.4(PANK4):c.2035G>A (p.Val679Met)	PANK4 (V679M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219771	NM_018216.4(PANK4):c.836C>G (p.Ser279Trp)	PANK4 (S279W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214686	NM_018216.4(PANK4):c.472G>A (p.Val158Met)	PANK4 (V158M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207349	NM_018216.4(PANK4):c.2018C>T (p.Ala673Val)	PANK4 (A673V)	Single nucleotide variant (missense variant)	not specified	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	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 1328099	GRCh37/hg19 1p36.33-36.32(chr1:753552-4034574)x1	ACAP3, ACTRT2 +76 more	Copy number loss	not provided	GPathogenic
Select item 1301909	NM_018216.4(PANK4):c.607-53G>A	PANK4	Single nucleotide variant (intron variant)	Cataract 49	GPathogenic
Select item 1177499	GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1	SMIM1, ZBTB48 +47 more	Copy number loss	Chromosome 1p36 deletion syndrome	Gnot provided
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 833146	NC_000001.10:g.(?_955543)_(3350385_?)del	TMEM88B, TTLL10 +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	TMEM88B, TNFRSF14 +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

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