ClinVar for Gene (Select 7161) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328247	NM_005427.4(TP73):c.1459T>G (p.Tyr487Asp)	TP73 (Y438D +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3328244	NM_005427.4(TP73):c.1588G>A (p.Ala530Thr)	TP73 (A449T +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3328243	NM_005427.4(TP73):c.968G>A (p.Gly323Glu)	TP73 (G323E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328242	NM_005427.4(TP73):c.1744G>A (p.Val582Ile)	TP73 (V452I +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3328241	NM_005427.4(TP73):c.1374C>T (p.His458=)	TP73 (R360C +1 more)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3328240	NM_005427.4(TP73):c.151G>A (p.Val51Ile)	TP73 (V51I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328239	NM_005427.4(TP73):c.1398G>A (p.Met466Ile)	TP73 (E368K +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3328238	NM_005427.4(TP73):c.862C>T (p.Arg288Trp)	LOC129929200, TP73 (R217W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328237	NM_005427.4(TP73):c.1810G>A (p.Gly604Ser)	TP73 (G474S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 3181464	NM_005427.4(TP73):c.832G>C (p.Glu278Gln)	TP73 (E207Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181463	NM_005427.4(TP73):c.659A>G (p.Asn220Ser)	TP73 (N220S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181462	NM_005427.4(TP73):c.503C>A (p.Pro168Gln)	TP73 (P97Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181460	NM_005427.4(TP73):c.136G>A (p.Asp46Asn)	TP73 (D46N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181459	NM_005427.4(TP73):c.1351G>A (p.Gly451Arg)	TP73 (G380R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 3062678	GRCh37/hg19 1p36.32(chr1:3575832-4224558)x3	C1orf174, CCDC27 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3056842	NM_005427.4(TP73):c.1876A>G (p.Ile626Val)	TP73 (I481V +6 more)	Single nucleotide variant (missense variant +1 more)	TP73-related disorder	GLikely benign
Select item 3056552	NM_005427.4(TP73):c.1008C>T (p.Ala336=)	TP73	Single nucleotide variant (synonymous variant)	TP73-related disorder	GBenign
Select item 3055835	NM_005427.4(TP73):c.1047T>C (p.His349=)	TP73	Single nucleotide variant (synonymous variant)	TP73-related disorder	GBenign
Select item 3032838	NM_005427.4(TP73):c.1756G>A (p.Val586Met)	TP73 (V441M +6 more)	Single nucleotide variant (missense variant +1 more)	TP73-related disorder	GLikely benign
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 2685288	GRCh37/hg19 1p36.32(chr1:2694517-4317372)x1	ACTRT2, ARHGEF16 +13 more	Copy number loss	not provided	GUncertain significance
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 2664857	NM_005427.4(TP73):c.1771C>T (p.Arg591Cys)	TP73 (R446C +6 more)	Single nucleotide variant (missense variant +1 more)	Ciliary dyskinesia, primary, 47, and lissencephaly	GUncertain significance
Select item 2638104	NM_005427.4(TP73):c.186+7738G>A	TP73 (G5S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2603483	NM_005427.4(TP73):c.1821C>G (p.Asp607Glu)	TP73 (D477E +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2601436	NM_005427.4(TP73):c.1339C>T (p.Pro447Ser)	TP73 (P447S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597764	NM_005427.4(TP73):c.32G>T (p.Gly11Val)	TP73 (G11V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585657	NM_005427.4(TP73):c.985+15A>G	TP73	Single nucleotide variant (intron variant)	Ciliary dyskinesia, primary, 47, and lissencephaly	GBenign
Select item 2585656	NM_005427.4(TP73):c.519C>T (p.Thr173=)	TP73	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 47, and lissencephaly	GBenign
Select item 2585655	NM_005427.4(TP73):c.-20C>T	TP73	Single nucleotide variant (5 prime UTR variant)	Ciliary dyskinesia, primary, 47, and lissencephaly	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 2555209	NM_005427.4(TP73):c.350C>T (p.Ser117Phe)	TP73 (S46F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543559	NM_005427.4(TP73):c.1128G>C (p.Glu376Asp)	TP73 (E327D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532368	NM_005427.4(TP73):c.173C>G (p.Thr58Ser)	TP73 (T58S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521806	NM_005427.4(TP73):c.1714G>A (p.Gly572Ser)	TP73 (G476S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2509158	NM_005427.4(TP73):c.983G>A (p.Arg328His)	TP73 (R279H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2495918	NM_005427.4(TP73):c.1376C>T (p.Ala459Val)	TP73 (A388V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2437188	NM_005427.4(TP73):c.1612C>T (p.Arg538Cys)	TP73 (R393C +6 more)	Single nucleotide variant (missense variant +1 more)	Ciliary dyskinesia, primary, 47, and lissencephaly	GUncertain significance
Select item 2437187	NM_005427.4(TP73):c.1342G>A (p.Val448Met)	TP73 (V377M +2 more)	Single nucleotide variant (missense variant +1 more)	Ciliary dyskinesia, primary, 47, and lissencephaly	GUncertain significance
Select item 2400595	NM_005427.4(TP73):c.922_924dup (p.His308_Tyr309insHis)	LOC129929200, TP73	Duplication (inframe_insertion)	Inborn genetic diseases	GUncertain significance
Select item 2398866	NM_005427.4(TP73):c.965A>T (p.Asn322Ile)	TP73 (N251I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381079	NM_005427.4(TP73):c.1316C>T (p.Ser439Leu)	TP73 (S368L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361660	NM_005427.4(TP73):c.1684C>T (p.Arg562Cys)	TP73 (R491C +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361404	NM_005427.4(TP73):c.958G>A (p.Ala320Thr)	TP73 (A249T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331241	NM_005427.4(TP73):c.1558C>G (p.Leu520Val)	TP73 (L424V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306393	NM_005427.4(TP73):c.1160A>C (p.Asp387Ala)	TP73 (D387A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297422	NM_005427.4(TP73):c.1768G>T (p.Val590Leu)	TP73 (V460L +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291843	NM_005427.4(TP73):c.329C>T (p.Ser110Leu)	TP73 (S61L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280553	NM_005427.4(TP73):c.1679T>C (p.Leu560Pro)	TP73 (L415P +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274921	NM_005427.4(TP73):c.1138T>G (p.Leu380Val)	TP73 (L331V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269977	NM_005427.4(TP73):c.820A>T (p.Ile274Phe)	TP73 (I203F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216015	NM_005427.4(TP73):c.4G>T (p.Ala2Ser)	TP73 (A2S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1809004	GRCh37/hg19 1p36.32(chr1:2974212-4408415)x3	ARHGEF16, C1orf174 +11 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 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 1709554	NM_005427.4(TP73):c.860G>A (p.Arg287His)	LOC129929200, TP73 (R216H +2 more)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 47, and lissencephaly	GUncertain significance
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 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 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 1192322	NM_005427.4(TP73):c.613G>T (p.Glu205Ter)	TP73 (E205* +2 more)	Single nucleotide variant (nonsense)	Ciliary dyskinesia, primary, 47, and lissencephaly	GPathogenic
Select item 1192321	NM_005427.4(TP73):c.1459del (p.Tyr487fs)	TP73 (L388fs +4 more)	Deletion (frameshift variant +1 more)	Ciliary dyskinesia, primary, 47, and lissencephaly	GPathogenic
Select item 1192320	NM_005427.4(TP73):c.994C>T (p.Gln332Ter)	TP73 (Q332* +2 more)	Single nucleotide variant (nonsense)	Ciliary dyskinesia, primary, 47, and lissencephaly	GPathogenic
Select item 1192319	NM_005427.4(TP73):c.1196+1G>A	TP73	Single nucleotide variant (splice donor variant)	Ciliary dyskinesia, primary, 47, and lissencephaly	GPathogenic
Select item 1192318	NC_000001.11:g.3727346_3739337delinsACCCAAAG	LOC129929200, TP73 +1 more	Indel	Ciliary dyskinesia, primary, 47, and lissencephaly	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 996733	NM_005427.4(TP73):c.901G>A (p.Asp301Asn)	LOC129929200, TP73 (D230N +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
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 980932	GRCh37/hg19 1p36.32(chr1:3202162-4143527)x3	ARHGEF16, C1orf174 +11 more	Copy number gain	not provided	GUncertain significance
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 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 775492	NM_005427.4(TP73):c.1689T>C (p.Ser563=)	TP73	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 775491	NM_005427.4(TP73):c.1173G>A (p.Gln391=)	TP73	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773386	NM_005427.4(TP73):c.65+9G>A	TP73	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 772649	NM_005427.4(TP73):c.735G>A (p.Val245=)	TP73	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 739742	NM_005427.4(TP73):c.408G>A (p.Thr136=)	TP73	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 736734	NM_005427.4(TP73):c.186+7G>A	TP73	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 734875	NM_005427.4(TP73):c.1254C>T (p.His418=)	TP73	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 719698	NM_005427.4(TP73):c.741G>A (p.Thr247=)	TP73	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714065	NM_005427.4(TP73):c.973G>A (p.Ala325Thr)	TP73 (A325T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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

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