TAP2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 3060503	NM_018833.3(TAP2):c.*7A>G	TAP2	Single nucleotide variant (3 prime UTR variant)	TAP2-related disorder	GBenign
Select item 403507	NM_018833.3(TAP2):c.1939C>T (p.Leu647Phe)	TAP2 (L647F)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 3042978	NM_018833.3(TAP2):c.1933-7_1933-5dup	TAP2	Duplication (intron variant)	TAP2-related disorder	GLikely benign
Select item 403508	NM_018833.3(TAP2):c.1933-5dup	TAP2	Duplication (intron variant)	not specified	GBenign
Select item 1296950	NM_001290043.2(TAP2):c.*718C>T	TAP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1471315	NM_001290043.2(TAP2):c.*38G>A	TAP2 (R700Q)	Single nucleotide variant (missense variant +2 more)	MHC class I deficiency	GUncertain significance
Select item 466371	NM_001290043.2(TAP2):c.*30=	TAP2	Single nucleotide variant (synonymous variant +2 more)	MHC class I deficiency	GBenign
Select item 403509	NM_001290043.2(TAP2):c.*30G>T	TAP2	Single nucleotide variant (no sequence alteration +2 more)	not specified +1 more	GBenign
Select item 864698	NM_001290043.2(TAP2):c.*23G>A	TAP2 (R695H)	Single nucleotide variant (missense variant +2 more)	MHC class I deficiency	GUncertain significance
Select item 2000007	NM_001290043.2(TAP2):c.*19T>A	TAP2 (S694T)	Single nucleotide variant (missense variant +2 more)	MHC class I deficiency	GUncertain significance
Select item 534717	NM_001290043.2(TAP2):c.*9G>A	TAP2	Single nucleotide variant (synonymous variant +2 more)	MHC class I deficiency	GLikely benign
Select item 1112483	NM_001290043.2(TAP2):c.2061G>A (p.Ter687=)	TAP2	Single nucleotide variant (synonymous variant +1 more)	MHC class I deficiency	GLikely benign
Select item 403510	NM_001290043.2(TAP2):c.2059T>C (p.Ter687Gln)	TAP2	Single nucleotide variant (no sequence alteration +2 more)	MHC class I deficiency +1 more	GBenign
Select item 13726	NM_001290043.2(TAP2):c.2059= (p.Ter687=)	TAP2 (Q687*)	Single nucleotide variant (nonsense +2 more)	MHC class I deficiency	GBenign
Select item 1466541	NM_001290043.2(TAP2):c.2053C>T (p.Gln685Ter)	TAP2 (Q685*)	Single nucleotide variant (nonsense +1 more)	MHC class I deficiency	GUncertain significance
Select item 843377	NM_001290043.2(TAP2):c.2051C>T (p.Ala684Val)	TAP2 (A684V)	Single nucleotide variant (missense variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 1145218	NM_001290043.2(TAP2):c.2046G>A (p.Lys682=)	TAP2	Single nucleotide variant (synonymous variant +1 more)	MHC class I deficiency	GLikely benign
Select item 1363571	NM_001290043.2(TAP2):c.2029G>A (p.Glu677Lys)	TAP2 (E677K)	Single nucleotide variant (missense variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 1044539	NM_001290043.2(TAP2):c.2020G>A (p.Val674Met)	TAP2 (V674M)	Single nucleotide variant (missense variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 641118	NM_001290043.2(TAP2):c.2005G>A (p.Ala669Thr)	TAP2 (A669T)	Single nucleotide variant (missense variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 1113239	NM_001290043.2(TAP2):c.2004C>T (p.Arg668=)	TAP2	Single nucleotide variant (synonymous variant +1 more)	MHC class I deficiency	GLikely benign
Select item 940600	NM_001290043.2(TAP2):c.1999C>T (p.Gln667Ter)	TAP2 (Q667*)	Single nucleotide variant (nonsense +1 more)	MHC class I deficiency	GUncertain significance
Select item 403511	NM_001290043.2(TAP2):c.1993A>G (p.Thr665Ala)	TAP2 (T665A)	Single nucleotide variant (no sequence alteration +2 more)	MHC class I deficiency +1 more	GBenign
Select item 13725	NM_001290043.2(TAP2):c.1993= (p.Thr665=)	TAP2 (A665T)	Single nucleotide variant (missense variant +2 more)	MHC class I deficiency	GBenign
Select item 1091556	NM_001290043.2(TAP2):c.1984A>C (p.Arg662=)	TAP2	Single nucleotide variant (synonymous variant +1 more)	MHC class I deficiency	GLikely benign
Select item 1464005	NM_001290043.2(TAP2):c.1982A>G (p.His661Arg)	TAP2 (H661R)	Single nucleotide variant (missense variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 2019714	NM_001290043.2(TAP2):c.1962C>T (p.Arg654=)	TAP2	Single nucleotide variant (synonymous variant +1 more)	MHC class I deficiency	GLikely benign
Select item 834855	NM_001290043.2(TAP2):c.1961G>A (p.Arg654His)	TAP2 (R654H)	Single nucleotide variant (missense variant +1 more)	MHC class I deficiency +1 more	GUncertain significance
Select item 1042870	NM_001290043.2(TAP2):c.1952G>T (p.Arg651Leu)	TAP2 (R651L)	Single nucleotide variant (missense variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 1164495	NM_001290043.2(TAP2):c.1951C>T (p.Arg651Cys)	TAP2 (R651C)	Single nucleotide variant (missense variant +1 more)	MHC class I deficiency	GBenign
Select item 1613044	NM_001290043.2(TAP2):c.1947T>C (p.Asn649=)	TAP2	Single nucleotide variant (synonymous variant +1 more)	MHC class I deficiency	GLikely benign
Select item 657703	NM_001290043.2(TAP2):c.1933-6_1933-3del	TAP2	Deletion (intron variant)	MHC class I deficiency	GUncertain significance
Select item 1601110	NM_001290043.2(TAP2):c.1933-6del	TAP2	Deletion (intron variant)	MHC class I deficiency	GBenign
Select item 1092752	NM_001290043.2(TAP2):c.1933-11C>T	TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 1164213	NM_001290043.2(TAP2):c.1932+10G>A	TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GBenign
Select item 403512	NM_001290043.2(TAP2):c.1932+9C>T	TAP2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3020539	NM_001290043.2(TAP2):c.1932+1G>A	TAP2	Single nucleotide variant (splice donor variant)	MHC class I deficiency	GUncertain significance
Select item 744370	NM_001290043.2(TAP2):c.1932C>T (p.Ala644=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 1485681	NM_001290043.2(TAP2):c.1931C>T (p.Ala644Val)	TAP2 (A644V)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1463751	NM_001290043.2(TAP2):c.1930G>A (p.Ala644Thr)	TAP2 (A644T)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1992268	NM_001290043.2(TAP2):c.1924G>A (p.Glu642Lys)	TAP2 (E642K)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 949957	NM_001290043.2(TAP2):c.1924G>T (p.Glu642Ter)	TAP2 (E642*)	Single nucleotide variant (nonsense)	MHC class I deficiency	GUncertain significance
Select item 2159535	NM_001290043.2(TAP2):c.1923C>G (p.Cys641Trp)	TAP2 (C641W)	Single nucleotide variant (missense variant)	MHC class I deficiency +1 more	GUncertain significance
Select item 1979213	NM_001290043.2(TAP2):c.1923C>T (p.Cys641=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 534715	NM_001290043.2(TAP2):c.1920G>A (p.Gln640=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GBenign
Select item 466370	NM_001290043.2(TAP2):c.1909C>A (p.Leu637Ile)	TAP2 (L637I)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 765703	NM_001290043.2(TAP2):c.1908C>T (p.Ala636=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2160045	NM_001290043.2(TAP2):c.1884C>T (p.Leu628=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 1103335	NM_001290043.2(TAP2):c.1884C>G (p.Leu628=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 732070	NM_001290043.2(TAP2):c.1878G>A (p.Arg626=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency +1 more	GBenign/Likely benign
Select item 2035013	NM_001290043.2(TAP2):c.1877G>A (p.Arg626Gln)	TAP2 (R626Q)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1149437	NM_001290043.2(TAP2):c.1875G>A (p.Pro625=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 1399848	NM_001290043.2(TAP2):c.1868G>A (p.Arg623Gln)	TAP2 (R623Q)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2734845	NM_001290043.2(TAP2):c.1867C>T (p.Arg623Ter)	TAP2 (R623*)	Single nucleotide variant (nonsense)	MHC class I deficiency	GPathogenic
Select item 1430073	NM_001290043.2(TAP2):c.1855C>T (p.Arg619Trp)	TAP2 (R619W)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 649505	NM_001290043.2(TAP2):c.1852G>T (p.Ala618Ser)	TAP2 (A618S)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 846442	NM_001290043.2(TAP2):c.1843C>G (p.Leu615Val)	TAP2 (L615V)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1511431	NM_001290043.2(TAP2):c.1841G>A (p.Arg614His)	TAP2 (R614H)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1410319	NM_001290043.2(TAP2):c.1840C>T (p.Arg614Cys)	TAP2 (R614C)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1928904	NM_001290043.2(TAP2):c.1837C>T (p.Gln613Ter)	TAP2 (Q613*)	Single nucleotide variant (nonsense)	MHC class I deficiency	GPathogenic
Select item 534732	NM_001290043.2(TAP2):c.1827G>A (p.Ala609=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 466369	NM_001290043.2(TAP2):c.1826C>T (p.Ala609Val)	TAP2 (A609V)	Single nucleotide variant (missense variant)	MHC class I deficiency	GBenign
Select item 403513	NM_001290043.2(TAP2):c.1812A>G (p.Gly604=)	TAP2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 403514	NM_001290043.2(TAP2):c.1800A>C (p.Val600=)	TAP2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1936169	NM_001290043.2(TAP2):c.1796A>T (p.Asp599Val)	TAP2 (D599V)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1146836	NM_001290043.2(TAP2):c.1795+8C>T	TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 1494666	NM_001290043.2(TAP2):c.1793C>A (p.Thr598Lys)	TAP2 (T598K)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1994700	NM_001290043.2(TAP2):c.1786A>G (p.Ile596Val)	TAP2 (I596V)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1037239	NM_001290043.2(TAP2):c.1781A>G (p.His594Arg)	TAP2 (H594R)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 534713	NM_001290043.2(TAP2):c.1776G>A (p.Met592Ile)	TAP2 (M592I)	Single nucleotide variant (missense variant)	MHC class I deficiency +1 more	GUncertain significance
Select item 664292	NM_001290043.2(TAP2):c.1769A>G (p.Gln590Arg)	TAP2 (Q590R)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 756850	NM_001290043.2(TAP2):c.1767C>A (p.Ile589=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 1445789	NM_001290043.2(TAP2):c.1746_1754dup (p.Ala583_Ala585dup)	TAP2	Duplication (inframe_insertion)	MHC class I deficiency	GUncertain significance
Select item 779641	NM_001290043.2(TAP2):c.1755A>G (p.Ala585=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GBenign
Select item 1388108	NM_001290043.2(TAP2):c.1753G>A (p.Ala585Thr)	TAP2 (A585T)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 466368	NM_001290043.2(TAP2):c.1752C>T (p.His584=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency +1 more	GLikely benign
Select item 1638601	NM_001290043.2(TAP2):c.1749C>T (p.Ala583=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 1470803	NM_001290043.2(TAP2):c.1742A>G (p.Gln581Arg)	TAP2 (Q581R)	Single nucleotide variant (missense variant)	MHC class I deficiency +1 more	GConflicting classifications of pathogenicity
Select item 709143	NM_001290043.2(TAP2):c.1740C>G (p.Ala580=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2282967	NM_001290043.2(TAP2):c.1738G>A (p.Ala580Thr)	TAP2 (A580T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2153220	NM_001290043.2(TAP2):c.1735G>A (p.Ala579Thr)	TAP2 (A579T)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1585491	NM_001290043.2(TAP2):c.1734G>A (p.Ala578=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 836733	NM_001290043.2(TAP2):c.1733C>T (p.Ala578Val)	TAP2 (A578V)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1167183	NM_001290043.2(TAP2):c.1729A>G (p.Met577Val)	TAP2 (M577V)	Single nucleotide variant (missense variant)	MHC class I deficiency	GBenign
Select item 2851879	NM_001290043.2(TAP2):c.1725G>A (p.Lys575=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 1036700	NM_001290043.2(TAP2):c.1721A>G (p.Asp574Gly)	TAP2 (D574G)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 661661	NM_001290043.2(TAP2):c.1720G>A (p.Asp574Asn)	TAP2 (D574N)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 639852	NM_001290043.2(TAP2):c.1714G>A (p.Glu572Lys)	TAP2 (E572K)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1366856	NM_001290043.2(TAP2):c.1694C>G (p.Ala565Gly)	TAP2 (A565G)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1168813	NM_001290043.2(TAP2):c.1693G>A (p.Ala565Thr)	TAP2 (A565T)	Single nucleotide variant (missense variant)	MHC class I deficiency	GBenign
Select item 862838	NM_001290043.2(TAP2):c.1690A>C (p.Ile564Leu)	TAP2 (I564L)	Single nucleotide variant (missense variant)	MHC class I deficiency +1 more	GUncertain significance
Select item 1351747	NM_001290043.2(TAP2):c.1672G>A (p.Gly558Ser)	TAP2 (G558S)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2421682	NM_001290043.2(TAP2):c.1671C>T (p.Ser557=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2399517	NM_001290043.2(TAP2):c.1670C>G (p.Ser557Cys)	TAP2 (S557C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 640861	NM_001290043.2(TAP2):c.1655A>G (p.Glu552Gly)	TAP2 (E552G)	Single nucleotide variant (missense variant)	MHC class I deficiency +1 more	GUncertain significance
Select item 2026488	NM_001290043.2(TAP2):c.1650G>T (p.Gly550=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2727952	NM_001290043.2(TAP2):c.1636-1G>A	TAP2	Single nucleotide variant (splice acceptor variant)	MHC class I deficiency	GPathogenic
Select item 403515	NM_001290043.2(TAP2):c.1636-10T>C	TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency +1 more	GBenign
Select item 1987370	NM_001290043.2(TAP2):c.1636-12C>T	TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GUncertain significance

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