6890[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 414

<< First< Prev

Page of 5

	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 3024794	NM_000593.6(TAP1):c.*76A>C	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2573443	NM_000593.6(TAP1):c.2239C>T (p.Pro747Ser)	PSMB8-AS1, TAP1 (P546S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1512962	NM_000593.6(TAP1):c.2224G>C (p.Ala742Pro)	PSMB8-AS1, TAP1 (A541P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 466387	NM_000593.6(TAP1):c.2219T>C (p.Val740Ala)	PSMB8-AS1, TAP1 (V800A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 2289363	NM_000593.6(TAP1):c.2215A>G (p.Met739Val)	PSMB8-AS1, TAP1 (M739V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2068034	NM_000593.6(TAP1):c.2213C>T (p.Ala738Val)	PSMB8-AS1, TAP1 (A738V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency +1 more	GUncertain significance
Select item 1133946	NM_000593.6(TAP1):c.2187C>T (p.Leu729=)	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GLikely benign
Select item 466386	NM_000593.6(TAP1):c.2182C>A (p.Gln728Lys)	PSMB8-AS1, TAP1 (Q788K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GBenign
Select item 1355919	NM_000593.6(TAP1):c.2167G>C (p.Gly723Arg)	PSMB8-AS1, TAP1 (G723R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 953961	NM_000593.6(TAP1):c.2167G>T (p.Gly723Trp)	PSMB8-AS1, TAP1 (G522W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency +1 more	GUncertain significance
Select item 936651	NM_000593.6(TAP1):c.2155G>A (p.Ala719Thr)	PSMB8-AS1, TAP1 (A719T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 773326	NM_000593.6(TAP1):c.2154C>T (p.Gly718=)	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GLikely benign
Select item 2436953	NM_000593.6(TAP1):c.2149G>T (p.Gly717Ter)	PSMB8-AS1, TAP1 (G516* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 2006276	NM_000593.6(TAP1):c.2145G>T (p.Leu715=)	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GLikely benign
Select item 938034	NM_000593.6(TAP1):c.2144T>G (p.Leu715Arg)	PSMB8-AS1, TAP1 (L514R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 970299	NM_000593.6(TAP1):c.2140T>C (p.Phe714Leu)	PSMB8-AS1, TAP1 (F513L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 1141797	NM_000593.6(TAP1):c.2139C>A (p.Leu713=)	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GLikely benign
Select item 569257	NM_000593.6(TAP1):c.2131C>G (p.His711Asp)	PSMB8-AS1, TAP1 (H771D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 1571268	NM_000593.6(TAP1):c.2121G>A (p.Glu707=)	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GLikely benign
Select item 3236654	NM_000593.6(TAP1):c.2104dup (p.His702fs)	PSMB8-AS1, TAP1 (H501fs +1 more)	Duplication (non-coding transcript variant +1 more)	MHC class I deficiency	GPathogenic
Select item 1962218	NM_000593.6(TAP1):c.2095A>G (p.Ile699Val)	PSMB8-AS1, TAP1 (I699V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 1605172	NM_000593.6(TAP1):c.2094C>T (p.Leu698=)	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GLikely benign
Select item 1384330	NM_000593.6(TAP1):c.2081G>A (p.Arg694His)	PSMB8-AS1, TAP1 (R493H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 1516556	NM_000593.6(TAP1):c.2080C>T (p.Arg694Cys)	PSMB8-AS1, TAP1 (R493C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 1367179	NM_000593.6(TAP1):c.2077T>A (p.Ser693Thr)	PSMB8-AS1, TAP1 (S492T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 534729	NM_000593.6(TAP1):c.2076C>T (p.Tyr692=)	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency +1 more	GLikely benign
Select item 972503	NM_000593.6(TAP1):c.2072G>C (p.Arg691Pro)	PSMB8-AS1, TAP1 (R490P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 738461	NM_000593.6(TAP1):c.2072G>A (p.Arg691Gln)	PSMB8-AS1, TAP1 (R490Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GLikely benign
Select item 1449798	NM_000593.6(TAP1):c.2071C>T (p.Arg691Trp)	PSMB8-AS1, TAP1 (R691W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2145190	NM_000593.6(TAP1):c.2066C>T (p.Pro689Leu)	PSMB8-AS1, TAP1 (P488L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 1056023	NM_000593.6(TAP1):c.2062A>G (p.Ser688Gly)	PSMB8-AS1, TAP1 (S487G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 1346365	NM_000593.6(TAP1):c.2047C>T (p.Gln683Ter)	PSMB8-AS1, TAP1 (Q482* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 1025702	NM_000593.6(TAP1):c.2047C>A (p.Gln683Lys)	PSMB8-AS1, TAP1 (Q482K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 1556769	NM_000593.6(TAP1):c.2041-10C>G	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GLikely benign
Select item 1101299	NM_000593.6(TAP1):c.2041-13T>C	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GLikely benign
Select item 1164327	NM_000593.6(TAP1):c.2041-14A>C	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GBenign
Select item 2720475	NM_000593.6(TAP1):c.2041-15G>C	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GLikely benign
Select item 1600569	NM_000593.6(TAP1):c.2041-15G>A	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GBenign
Select item 1934290	NM_000593.6(TAP1):c.2041-16C>T	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GLikely benign
Select item 1589798	NM_000593.6(TAP1):c.2041-20G>A	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GLikely benign
Select item 1535444	NM_000593.6(TAP1):c.2040+17C>T	TAP1	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 640506	NM_000593.6(TAP1):c.2040+6G>A	TAP1	Single nucleotide variant (intron variant)	MHC class I deficiency	GUncertain significance
Select item 1493409	NM_000593.6(TAP1):c.2017C>A (p.Leu673Met)	TAP1 (L673M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1611288	NM_000593.6(TAP1):c.1995C>T (p.Ile665=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 942470	NM_000593.6(TAP1):c.1984T>C (p.Cys662Arg)	TAP1 (C461R +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 466384	NM_000593.6(TAP1):c.1983G>A (p.Pro661=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GBenign
Select item 1444739	NM_000593.6(TAP1):c.1981C>T (p.Pro661Ser)	TAP1 (P460S +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 13731	NM_000593.6(TAP1):c.1976G>A (p.Arg659Gln)	TAP1 (R719Q +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GLikely benign
Select item 1980207	NM_000593.6(TAP1):c.1975C>T (p.Arg659Trp)	TAP1 (R659W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 761053	NM_000593.6(TAP1):c.1968A>T (p.Ala656=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 1034756	NM_000593.6(TAP1):c.1964G>A (p.Arg655Gln)	TAP1 (R655Q +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1127887	NM_000593.6(TAP1):c.1962C>T (p.Ala654=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 579634	NM_000593.6(TAP1):c.1957T>A (p.Leu653Met)	TAP1 (L713M +2 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 728183	NM_000593.6(TAP1):c.1956G>A (p.Ala652=)	TAP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 998750	NM_000593.6(TAP1):c.1955C>T (p.Ala652Val)	TAP1 (A451V +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 466383	NM_000593.6(TAP1):c.1943G>A (p.Arg648Gln)	TAP1 (R708Q +2 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GBenign
Select item 2722833	NM_000593.6(TAP1):c.1938T>C (p.Gly646=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 1339543	NM_000593.6(TAP1):c.1937G>A (p.Gly646Asp)	TAP1 (G445D +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GConflicting classifications of pathogenicity
Select item 1060319	NM_000593.6(TAP1):c.1937G>T (p.Gly646Val)	TAP1 (G445V +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1007064	NM_000593.6(TAP1):c.1937G>C (p.Gly646Ala)	TAP1 (G445A +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 712828	NM_000593.6(TAP1):c.1927C>T (p.Leu643=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 3173812	NM_000593.6(TAP1):c.1918G>A (p.Gly640Arg)	TAP1 (G640R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608229	NM_000593.6(TAP1):c.1916C>T (p.Ala639Val)	TAP1 (A438V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2166120	NM_000593.6(TAP1):c.1911C>T (p.Asp637=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 13730	NM_000593.6(TAP1):c.1910A>G (p.Asp637Gly)	TAP1 (D697G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2610684	NM_000593.6(TAP1):c.1906G>A (p.Val636Ile)	TAP1 (V636I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1408007	NM_000593.6(TAP1):c.1904-14C>T	TAP1	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2823609	NM_000593.6(TAP1):c.1903+19del	TAP1	Deletion (intron variant)	MHC class I deficiency	GLikely benign
Select item 1673429	NM_000593.6(TAP1):c.1903+18C>G	TAP1	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2086347	NM_000593.6(TAP1):c.1903+12A>G	TAP1	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 945702	NM_000593.6(TAP1):c.1903+4C>A	TAP1	Single nucleotide variant (intron variant)	MHC class I deficiency	GUncertain significance
Select item 1074323	NM_000593.6(TAP1):c.1866_1879del (p.His622fs)	TAP1 (H421fs +1 more)	Deletion (frameshift variant)	MHC class I deficiency	GPathogenic
Select item 1356457	NM_000593.6(TAP1):c.1852A>G (p.Lys618Glu)	TAP1 (K417E +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2547223	NM_000593.6(TAP1):c.1846G>A (p.Ala616Thr)	TAP1 (A415T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 843581	NM_000593.6(TAP1):c.1838C>T (p.Thr613Ile)	TAP1 (T412I +2 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1658187	NM_000593.6(TAP1):c.1836C>T (p.Ile612=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 644588	NM_000593.6(TAP1):c.1825A>G (p.Met609Val)	TAP1 (M669V +2 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2848869	NM_000593.6(TAP1):c.1813C>T (p.Gln605Ter)	TAP1 (Q404* +1 more)	Single nucleotide variant (nonsense)	MHC class I deficiency	GPathogenic
Select item 762592	NM_000593.6(TAP1):c.1812C>T (p.Thr604=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2279644	NM_000593.6(TAP1):c.1804G>A (p.Gly602Ser)	TAP1 (G401S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2715303	NM_000593.6(TAP1):c.1800C>T (p.Ala600=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2520741	NM_000593.6(TAP1):c.1798G>T (p.Ala600Ser)	TAP1 (A399S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2743049	NM_000593.6(TAP1):c.1789G>T (p.Glu597Ter)	TAP1 (E597* +1 more)	Single nucleotide variant (nonsense)	MHC class I deficiency	GPathogenic
Select item 842574	NM_000593.6(TAP1):c.1783C>G (p.Leu595Val)	TAP1 (L655V +2 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1405713	NM_000593.6(TAP1):c.1782T>G (p.Ser594Arg)	TAP1 (S594R +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 852809	NM_000593.6(TAP1):c.1772T>C (p.Phe591Ser)	TAP1 (F390S +2 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1147944	NM_000593.6(TAP1):c.1770A>G (p.Val590=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 3173811	NM_000593.6(TAP1):c.1768G>A (p.Val590Ile)	TAP1 (V590I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2894430	NM_000593.6(TAP1):c.1753G>A (p.Gly585Arg)	TAP1 (G384R +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2281634	NM_000593.6(TAP1):c.1747G>A (p.Ala583Thr)	TAP1 (A583T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1086172	NM_000593.6(TAP1):c.1746T>C (p.Ala582=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2094079	NM_000593.6(TAP1):c.1741-4T>G	TAP1	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 3013839	NM_000593.6(TAP1):c.1740+8dup	TAP1	Duplication (intron variant)	MHC class I deficiency	GLikely benign
Select item 2778172	NM_000593.6(TAP1):c.1740+2T>C	TAP1	Single nucleotide variant (splice donor variant)	MHC class I deficiency	GLikely pathogenic
Select item 2792573	NM_000593.6(TAP1):c.1738C>T (p.Gln580Ter)	TAP1 (Q580* +1 more)	Single nucleotide variant (nonsense)	MHC class I deficiency	GPathogenic
Select item 2084426	NM_000593.6(TAP1):c.1727A>G (p.Tyr576Cys)	TAP1 (Y375C +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 581678	NM_000593.6(TAP1):c.1723C>T (p.Arg575Cys)	TAP1 (R635C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 951483	NM_000593.6(TAP1):c.1722C>A (p.His574Gln)	TAP1 (H574Q +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 961582	NM_000593.6(TAP1):c.1713A>G (p.Gln571=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GUncertain significance

<< First< Prev

Page of 5