TP73[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC129929074, LOC129929075 +520 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929144, LOC129929145 +458 more	Copy number loss	See cases	GPathogenic
Select item 151451	GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1	ACAP3, ACTRT2 +336 more	Copy number loss	See cases	GPathogenic
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	LINC01786, LINC02593 +338 more	Copy number gain	See cases	GPathogenic
Select item 152849	GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1	LOC129929191, LOC129929192 +325 more	Copy number loss	See cases	GPathogenic
Select item 152807	GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 152050	GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1	VWA1, WRAP73 +341 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	CEP104, CFAP74 +449 more	Copy number loss	See cases	GPathogenic
Select item 149107	GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3	LOC129929084, LOC129929085 +320 more	Copy number gain	See cases	GLikely pathogenic
Select item 148916	GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 58245	GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 58037	GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3	ACAP3, ACTRT2 +332 more	Copy number gain	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	PUSL1, RER1 +470 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC129929192, LOC129929193 +490 more	Copy number loss	See cases	GPathogenic
Select item 144707	GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	ACAP3, ACOT7 +441 more	Copy number loss	See cases	GPathogenic
Select item 58289	GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1	ACAP3, ACTRT2 +329 more	Copy number loss	See cases	GPathogenic
Select item 57440	GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	ACAP3, ACOT7 +401 more	Copy number loss	See cases	GPathogenic
Select item 57218	GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1	ACAP3, ACTRT2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57049	GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1	LINC01786, LINC02593 +339 more	Copy number loss	See cases	GPathogenic
Select item 150566	GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	LOC129929237, LOC129929238 +401 more	Copy number loss	See cases	GPathogenic
Select item 145360	GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3	ACAP3, ACTRT2 +341 more	Copy number gain	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 58311	GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 58314	GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1	ACAP3, ACTRT2 +320 more	Copy number loss	See cases	GPathogenic
Select item 147545	GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1	ACAP3, ACTRT2 +328 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	LOC129929075, LOC129929076 +464 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 148305	GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1	ACAP3, ACTRT2 +301 more	Copy number loss	See cases	GPathogenic
Select item 144807	GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 58318	GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 150863	GRCh38/hg38 1p36.33-36.32(chr1:1330915-3743546)x3	LOC129929178, LOC129929179 +195 more	Copy number gain	See cases	GUncertain significance
Select item 2499639	GRCh38/hg38 1p36.32(chr1:2518272-4413203)	LOC126805582, LOC126805583 +88 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 58321	GRCh38/hg38 1p36.32(chr1:2683403-4729121)x1	ACTRT2, AJAP1 +79 more	Copy number loss	See cases	GPathogenic
Select item 57390	GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1	ACOT7, ACTRT2 +226 more	Copy number loss	See cases	GPathogenic
Select item 152936	GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	LOC112577578, LOC112577579 +199 more	Copy number loss	See cases	GPathogenic
Select item 148513	GRCh38/hg38 1p36.32-36.31(chr1:2906020-5336116)x1	ACTRT2, AJAP1 +83 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 146047	GRCh38/hg38 1p36.32(chr1:3354056-3743487)x3	ARHGEF16, LOC108281140 +24 more	Copy number gain	See cases	GUncertain significance
Select item 59852	GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	ACOT7, AJAP1 +193 more	Copy number loss	See cases	GPathogenic
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 2216015	NM_005427.4(TP73):c.4G>T (p.Ala2Ser)	TP73 (A2S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 773386	NM_005427.4(TP73):c.65+9G>A	TP73	Single nucleotide variant (intron variant)	not provided	GBenign
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 2532368	NM_005427.4(TP73):c.173C>G (p.Thr58Ser)	TP73 (T58S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 736734	NM_005427.4(TP73):c.186+7G>A	TP73	Single nucleotide variant (intron variant)	not provided	GBenign
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 148732	GRCh38/hg38 1p36.32(chr1:3695587-4084682)x3	C1orf174, CCDC27 +28 more	Copy number gain	See cases	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 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 739742	NM_005427.4(TP73):c.408G>A (p.Thr136=)	TP73	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 144175	GRCh38/hg38 1p36.32(chr1:3712088-4027367)x4	C1orf174, CCDC27 +27 more	Copy number gain	See cases	GPathogenic
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 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 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 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 772649	NM_005427.4(TP73):c.735G>A (p.Val245=)	TP73	Single nucleotide variant (synonymous variant)	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 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 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 1192318	NC_000001.11:g.3727346_3739337delinsACCCAAAG	LOC129929200, TP73 +1 more	Indel	Ciliary dyskinesia, primary, 47, and lissencephaly	GPathogenic
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 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 2400595	NM_005427.4(TP73):c.922_924dup (p.His308_Tyr309insHis)	LOC129929200, TP73	Duplication (inframe_insertion)	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 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 714065	NM_005427.4(TP73):c.973G>A (p.Ala325Thr)	TP73 (A325T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2585657	NM_005427.4(TP73):c.985+15A>G	TP73	Single nucleotide variant (intron variant)	Ciliary dyskinesia, primary, 47, and lissencephaly	GBenign
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 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 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 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 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 775491	NM_005427.4(TP73):c.1173G>A (p.Gln391=)	TP73	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 734875	NM_005427.4(TP73):c.1254C>T (p.His418=)	TP73	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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 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 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 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 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 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 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 775492	NM_005427.4(TP73):c.1689T>C (p.Ser563=)	TP73	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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 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 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

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