"GeneDx"[submitter] AND "TAPT1"[gene] - ClinVar

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Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58026	GRCh38/hg38 4p15.33-15.31(chr4:14659764-18274924)x3	BST1, C1QTNF7 +84 more	Copy number gain	See cases	GPathogenic
Select item 1710654	NM_153365.3(TAPT1):c.1599C>G (p.Asp533Glu)	TAPT1 (D533E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 719092	NM_153365.3(TAPT1):c.1599C>T (p.Asp533=)	TAPT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770900	NM_153365.3(TAPT1):c.1565A>G (p.Asn522Ser)	TAPT1 (N522S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1191410	NM_153365.3(TAPT1):c.1475-28C>T	TAPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268825	NM_153365.3(TAPT1):c.1474+302G>A	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239747	NM_153365.3(TAPT1):c.1474+295G>A	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207054	NM_153365.3(TAPT1):c.1474+10G>A	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1498587	NM_153365.3(TAPT1):c.1414G>A (p.Ala472Thr)	TAPT1 (A472T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 786035	NM_153365.3(TAPT1):c.1393G>A (p.Glu465Lys)	TAPT1 (E465K)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2428955	NM_153365.3(TAPT1):c.1319T>C (p.Ile440Thr)	TAPT1 (I440T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1268899	NM_153365.3(TAPT1):c.1314-73A>G	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244848	NM_153365.3(TAPT1):c.1314-96G>T	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174357	NM_153365.3(TAPT1):c.1314-156C>A	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225598	NM_153365.3(TAPT1):c.1314-165A>G	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285905	NM_153365.3(TAPT1):c.1314-219_1314-218dup	TAPT1	Duplication (intron variant)	not provided	GBenign
Select item 1281314	NM_153365.3(TAPT1):c.1314-219dup	TAPT1	Duplication (intron variant)	not provided	GBenign
Select item 1217143	NM_153365.3(TAPT1):c.1314-219_1314-217dup	TAPT1	Duplication (intron variant)	not provided	GLikely benign
Select item 1191399	NM_153365.3(TAPT1):c.1314-219_1314-213dup	TAPT1	Duplication (intron variant)	not provided	GLikely benign
Select item 1189535	NM_153365.3(TAPT1):c.1314-219_1314-216dup	TAPT1	Duplication (intron variant)	not provided	GLikely benign
Select item 1245192	NM_153365.3(TAPT1):c.1314-199del	TAPT1	Deletion (intron variant)	not provided	GBenign
Select item 1239531	NM_153365.3(TAPT1):c.1314-248G>A	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230488	NM_153365.3(TAPT1):c.1314-291A>T	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227132	NM_153365.3(TAPT1):c.1314-308A>T	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240477	NM_153365.3(TAPT1):c.1313+252T>A	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183379	NM_153365.3(TAPT1):c.1313+105G>A	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272372	NM_153365.3(TAPT1):c.1313+95G>A	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221974	NM_153365.3(TAPT1):c.1236+206G>A	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196362	NM_153365.3(TAPT1):c.1108-189C>T	TAPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208689	NM_153365.3(TAPT1):c.1108-261A>G	TAPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238335	NM_153365.3(TAPT1):c.1108-283T>C	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268287	NM_153365.3(TAPT1):c.1107+258C>T	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231334	NM_153365.3(TAPT1):c.1107+225T>C	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218884	NM_153365.3(TAPT1):c.1107+79G>A	TAPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189074	NM_153365.3(TAPT1):c.998-27C>T	TAPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262207	NM_153365.3(TAPT1):c.997+79A>G	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 791973	NM_153365.3(TAPT1):c.997+7C>A	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1296644	NM_153365.3(TAPT1):c.917-21T>C	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243352	NM_153365.3(TAPT1):c.917-130del	TAPT1	Deletion (intron variant)	not provided	GBenign
Select item 1180350	NM_153365.3(TAPT1):c.917-145TA[8]	TAPT1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1213635	NM_153365.3(TAPT1):c.917-145TA[6]	TAPT1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1195632	NM_153365.3(TAPT1):c.917-147_917-144del	TAPT1	Deletion (intron variant)	not provided	GLikely benign
Select item 1288976	NM_153365.3(TAPT1):c.917-145T>C	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231899	NM_153365.3(TAPT1):c.917-169CA[11]	TAPT1	Microsatellite (intron variant)	not provided	GBenign
Select item 1228771	NM_153365.3(TAPT1):c.917-169CA[10]	TAPT1	Microsatellite (intron variant)	not provided	GBenign
Select item 1208854	NM_153365.3(TAPT1):c.917-147_917-146insCT	TAPT1	Insertion (intron variant)	not provided	GLikely benign
Select item 2500614	NM_153365.3(TAPT1):c.917-148_917-147insACACATATATATATATATATATATAT	TAPT1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1225640	NM_153365.3(TAPT1):c.917-147C>T	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196157	NM_153365.3(TAPT1):c.917-148_917-147insACATATATATATATATATATAT	TAPT1	Insertion (intron variant)	not provided	GLikely benign
Select item 1181195	NM_153365.3(TAPT1):c.917-148A>T	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232774	NM_153365.3(TAPT1):c.917-169C>T	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251678	NM_153365.3(TAPT1):c.917-177TA[3]	TAPT1	Microsatellite (intron variant)	not provided	GBenign
Select item 1261115	NM_153365.3(TAPT1):c.917-171T>C	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266570	NM_153365.3(TAPT1):c.917-290A>G	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296626	NM_153365.3(TAPT1):c.917-301C>T	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251316	NM_153365.3(TAPT1):c.917-301C>G	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244790	NM_153365.3(TAPT1):c.916+277T>C	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296630	NM_153365.3(TAPT1):c.916+265G>A	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187449	NM_153365.3(TAPT1):c.916+23T>G	TAPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182051	NM_153365.3(TAPT1):c.846+22C>T	TAPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229311	NM_153365.3(TAPT1):c.749-119A>G	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204558	NM_153365.3(TAPT1):c.749-145A>G	TAPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268405	NM_153365.3(TAPT1):c.613-13T>A	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222424	NM_153365.3(TAPT1):c.613-95A>C	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198101	NM_153365.3(TAPT1):c.613-158T>C	TAPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296674	NM_153365.3(TAPT1):c.613-241T>C	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272927	NM_153365.3(TAPT1):c.613-241T>A	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 708783	NM_153365.3(TAPT1):c.496G>T (p.Gly166Cys)	TAPT1 (G166C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1251640	NM_153365.3(TAPT1):c.450-94C>T	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296633	NM_153365.3(TAPT1):c.449+150A>G	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208894	NM_153365.3(TAPT1):c.449+131C>A	TAPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 713074	NM_153365.3(TAPT1):c.346A>C (p.Ile116Leu)	TAPT1 (I116L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1269160	NM_153365.3(TAPT1):c.331-23C>T	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248542	NM_153365.3(TAPT1):c.331-34dup	TAPT1	Duplication (intron variant)	not provided	GBenign
Select item 1283084	NM_153365.3(TAPT1):c.331-24del	TAPT1	Deletion (intron variant)	not provided	GBenign
Select item 1222761	NM_153365.3(TAPT1):c.331-54T>C	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232846	NM_153365.3(TAPT1):c.331-146G>A	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238144	NM_153365.3(TAPT1):c.331-153T>C	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230375	NM_153365.3(TAPT1):c.331-190G>A	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202556	NM_153365.3(TAPT1):c.331-191C>T	TAPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235608	NM_153365.3(TAPT1):c.331-234A>G	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 786885	NM_153365.3(TAPT1):c.306G>A (p.Leu102=)	TAPT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1240893	NM_153365.3(TAPT1):c.270G>A (p.Lys90=)	TAPT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1313095	NM_153365.3(TAPT1):c.207A>G (p.Ser69=)	TAPT1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1261045	NM_153365.3(TAPT1):c.200-16A>C	TAPT1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1284180	NM_153365.3(TAPT1):c.200-334A>G	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273854	NM_153365.3(TAPT1):c.199+288T>C	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217657	NM_153365.3(TAPT1):c.199+240G>A	TAPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189574	NM_153365.3(TAPT1):c.199+155_199+163del	LOC129992296, TAPT1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1236274	NM_153365.3(TAPT1):c.199+101T>C	LOC129992296, TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278862	NM_153365.3(TAPT1):c.199+59C>T	LOC129992296, TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212785	NM_153365.3(TAPT1):c.137T>G (p.Leu46Arg)	LOC129992296, TAPT1 (L46R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1707146	NC_000004.12:g.16226530GCCCC[3]	LOC129992297, TAPT1	Microsatellite (genic upstream transcript variant)	not provided	GLikely benign
Select item 1252499	NC_000004.12:g.16226554GCC[9]	LOC129992297, TAPT1	Microsatellite	not provided	GBenign
Select item 1225651	NC_000004.12:g.16226554GCC[8]	LOC129992297, TAPT1	Microsatellite	not provided	GBenign
Select item 1186277	NC_000004.12:g.16226554GCC[5]	LOC129992297, TAPT1	Microsatellite	not provided	GLikely benign
Select item 1264370	NC_000004.12:g.16226627G>A	LOC129992298, TAPT1	Single nucleotide variant	not provided	GBenign
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253431	GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	BOD1L1, LDB2 +161 more	Copy number loss	See cases	GPathogenic
Select item 253400	GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3	LAP3, CC2D2A +71 more	Copy number gain	See cases	GPathogenic

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Items: 100