TAPT1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	ABLIM2, ACOX3 +1209 more	Copy number gain	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	ABLIM2, ACOX3 +691 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	ABLIM2, ACOX3 +702 more	Copy number gain	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	TACC3, TADA2B +657 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	LOC129992439, LOC129992440 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992004, LOC129992005 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992188, LOC129992189 +832 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	LOC123477718, LOC123477719 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	USP17L13, USP17L15 +716 more	Copy number gain	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	LOC129992238, LOC129992239 +659 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 153003	GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	LOC129992303, LOC132089075 +365 more	Copy number loss	See cases	GPathogenic
Select item 626310	NC_000004.12:g.8398067_17505522inv	ACOX3, BOD1L1 +193 more	Inversion	Dihydropteridine reductase deficiency	GPathogenic
Select item 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 57509	GRCh38/hg38 4p15.33-15.31(chr4:14061129-20121834)x1	BST1, C1QTNF7 +98 more	Copy number loss	See cases	GPathogenic
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 152301	GRCh38/hg38 4p15.32(chr4:15868863-16925081)x1	FGFBP1, FGFBP2 +18 more	Copy number loss	See cases	GUncertain significance
Select item 3068159	NM_153365.3(TAPT1):c.1673G>A (p.Arg558Lys)	TAPT1 (R558K)	Single nucleotide variant (missense variant)	Complex lethal osteochondrodysplasia	GUncertain significance
Select item 1628203	NM_153365.3(TAPT1):c.1614G>A (p.Thr538=)	TAPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1441031	NM_153365.3(TAPT1):c.1613C>T (p.Thr538Met)	TAPT1 (T538M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 1513469	NM_153365.3(TAPT1):c.1599C>A (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)	TAPT1-related condition +1 more	GBenign
Select item 1539236	NM_153365.3(TAPT1):c.1581G>A (p.Leu527=)	TAPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1525915	NM_153365.3(TAPT1):c.1581G>C (p.Leu527Phe)	TAPT1 (L527F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2248966	NM_153365.3(TAPT1):c.1543A>G (p.Ile515Val)	TAPT1 (I515V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325712	NM_153365.3(TAPT1):c.1531A>G (p.Lys511Glu)	TAPT1 (K511E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2004952	NM_153365.3(TAPT1):c.1522A>G (p.Ile508Val)	TAPT1 (I508V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1642980	NM_153365.3(TAPT1):c.1512C>G (p.Thr504=)	TAPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1522735	NM_153365.3(TAPT1):c.1499C>T (p.Ser500Phe)	TAPT1 (S500F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3006665	NM_153365.3(TAPT1):c.1497G>A (p.Leu499=)	TAPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 3021560	NM_153365.3(TAPT1):c.1474+13C>A	TAPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1667230	NM_153365.3(TAPT1):c.1474+12C>G	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 1985093	NM_153365.3(TAPT1):c.1474G>A (p.Gly492Ser)	TAPT1 (G492S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1443191	NM_153365.3(TAPT1):c.1468T>G (p.Ser490Ala)	TAPT1 (S490A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002138	NM_153365.3(TAPT1):c.1467C>T (p.Pro489=)	TAPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737831	NM_153365.3(TAPT1):c.1437G>A (p.Pro479=)	TAPT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2297563	NM_153365.3(TAPT1):c.1436C>T (p.Pro479Leu)	TAPT1 (P479L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 781846	NM_153365.3(TAPT1):c.1413C>T (p.Pro471=)	TAPT1	Single nucleotide variant (synonymous variant)	TAPT1-related condition +1 more	GLikely benign
Select item 1941753	NM_153365.3(TAPT1):c.1411C>G (p.Pro471Ala)	TAPT1 (P471A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1520058	NM_153365.3(TAPT1):c.1408C>G (p.Pro470Ala)	TAPT1 (P470A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 794163	NM_153365.3(TAPT1):c.1401G>A (p.Leu467=)	TAPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806565	NM_153365.3(TAPT1):c.1395G>A (p.Glu465=)	TAPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1912060	NM_153365.3(TAPT1):c.1362G>A (p.Ser454=)	TAPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736272	NM_153365.3(TAPT1):c.1350G>A (p.Leu450=)	TAPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2096875	NM_153365.3(TAPT1):c.1322C>T (p.Ser441Phe)	TAPT1 (S441F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2191025	NM_153365.3(TAPT1):c.1317G>A (p.Leu439=)	TAPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3032029	NM_153365.3(TAPT1):c.1314-10C>G	TAPT1	Single nucleotide variant (intron variant)	TAPT1-related condition	GLikely benign
Select item 1673399	NM_153365.3(TAPT1):c.1314-14G>A	TAPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965895	NM_153365.3(TAPT1):c.1314-15T>C	TAPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1497049	NM_153365.3(TAPT1):c.1314-18T>G	TAPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2419378	NM_153365.3(TAPT1):c.1269G>A (p.Val423=)	TAPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2197708	NM_153365.3(TAPT1):c.1252A>T (p.Thr418Ser)	TAPT1 (T418S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1221974	NM_153365.3(TAPT1):c.1236+206G>A	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3031102	NM_153365.3(TAPT1):c.1233T>C (p.Val411=)	TAPT1	Single nucleotide variant (synonymous variant)	TAPT1-related condition	GLikely benign
Select item 2800477	NM_153365.3(TAPT1):c.1209C>T (p.Gly403=)	TAPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2226645	NM_153365.3(TAPT1):c.1198C>T (p.Arg400Trp)	TAPT1 (R400W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1500552	NM_153365.3(TAPT1):c.1190C>T (p.Ser397Phe)	TAPT1 (S397F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2030968	NM_153365.3(TAPT1):c.1168-10C>A	TAPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599470	NM_153365.3(TAPT1):c.1168-15T>C	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1568385	NM_153365.3(TAPT1):c.1168-19T>C	TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1658552	NM_153365.3(TAPT1):c.1167+20G>A	TAPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1895539	NM_153365.3(TAPT1):c.1167+11A>G	TAPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1525596	NM_153365.3(TAPT1):c.1161G>C (p.Gln387His)	TAPT1 (Q387H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1252088	NM_153365.3(TAPT1):c.1156C>T (p.Arg386Ter)	TAPT1 (R386*)	Single nucleotide variant (nonsense)	Complex lethal osteochondrodysplasia	GPathogenic
Select item 1926781	NM_153365.3(TAPT1):c.1119A>G (p.Glu373=)	TAPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 224906	NM_153365.3(TAPT1):c.1108-1G>C	TAPT1	Single nucleotide variant (splice acceptor variant)	Complex lethal osteochondrodysplasia	GPathogenic
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

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