"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "IL12RB1 - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1981311	NM_005535.3(IL12RB1):c.1989A>G (p.Ter663Trp)	IL12RB1 (D659G)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 944835	NM_005535.3(IL12RB1):c.1984-1G>A	IL12RB1	Single nucleotide variant (splice acceptor variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 1672804	NM_005535.3(IL12RB1):c.1984-15TGT[4]	IL12RB1	Microsatellite (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 1132174	NM_005535.3(IL12RB1):c.1984-12T>C	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 2047961	NM_005535.3(IL12RB1):c.1983+17G>A	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 1618433	NM_005535.3(IL12RB1):c.1983+16G>A	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 2918638	NM_005535.3(IL12RB1):c.1983+15T>C	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 2977641	NM_005535.3(IL12RB1):c.1983+10C>T	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 2117150	NM_005535.3(IL12RB1):c.1983+4C>T	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 1521647	NM_005535.3(IL12RB1):c.1976A>G (p.Lys659Arg)	IL12RB1 (K659R +1 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 328574	NM_005535.3(IL12RB1):c.1960G>A (p.Asp654Asn)	IL12RB1 (D654N +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 328575	NM_005535.3(IL12RB1):c.1914T>C (p.Pro638=)	IL12RB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 946802	NM_005535.3(IL12RB1):c.1912C>T (p.Pro638Ser)	IL12RB1 (P678S +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GUncertain significance
Select item 1081977	NM_005535.3(IL12RB1):c.1902G>A (p.Lys634=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 2786378	NM_005535.3(IL12RB1):c.1897G>T (p.Glu633Ter)	IL12RB1 (E633* +1 more)	Single nucleotide variant (nonsense)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GPathogenic
Select item 1664966	NM_005535.3(IL12RB1):c.1896C>T (p.Leu632=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 1158164	NM_005535.3(IL12RB1):c.1896C>G (p.Leu632=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 328576	NM_005535.3(IL12RB1):c.1879G>A (p.Glu627Lys)	IL12RB1 (E627K +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GLikely benign
Select item 643981	NM_005535.3(IL12RB1):c.1878C>T (p.Gly626=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 2967717	NM_005535.3(IL12RB1):c.1877G>A (p.Gly626Asp)	IL12RB1 (G626D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2721099	NM_005535.3(IL12RB1):c.1867T>C (p.Trp623Arg)	IL12RB1 (W623R +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 1025232	NM_005535.3(IL12RB1):c.1856T>C (p.Val619Ala)	IL12RB1 (V619A +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 1993984	NM_005535.3(IL12RB1):c.1851G>A (p.Leu617=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 1946187	NM_005535.3(IL12RB1):c.1835C>T (p.Ser612Phe)	IL12RB1 (S612F +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 1521649	NM_005535.3(IL12RB1):c.1825G>A (p.Glu609Lys)	IL12RB1 (E649K +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 328578	NM_005535.3(IL12RB1):c.1818C>T (p.Asp606=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GConflicting classifications of pathogenicity
Select item 541821	NM_005535.3(IL12RB1):c.1813G>T (p.Val605Leu)	IL12RB1 (V605L +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GLikely benign
Select item 2033191	NM_005535.3(IL12RB1):c.1792-1G>A	IL12RB1	Single nucleotide variant (splice acceptor variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely pathogenic
Select item 2100147	NM_005535.3(IL12RB1):c.1792-12C>T	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 2859279	NM_005535.3(IL12RB1):c.1792-14C>T	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 1656209	NM_005535.3(IL12RB1):c.1792-14C>A	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 1596657	NM_005535.3(IL12RB1):c.1792-18C>T	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 541823	NM_005535.3(IL12RB1):c.1791+9G>A	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GConflicting classifications of pathogenicity
Select item 1997646	NM_005535.3(IL12RB1):c.1791+7A>T	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 852766	NM_005535.3(IL12RB1):c.1791+3A>T	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 579038	NM_005535.3(IL12RB1):c.1791+2T>G	IL12RB1	Single nucleotide variant (splice donor variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GPathogenic
Select item 2812854	NM_005535.3(IL12RB1):c.1791+1G>C	IL12RB1	Single nucleotide variant (splice donor variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GPathogenic
Select item 728807	NM_005535.3(IL12RB1):c.1786A>G (p.Lys596Glu)	IL12RB1 (K596E +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GBenign
Select item 715185	NM_005535.3(IL12RB1):c.1781G>A (p.Gly594Glu)	IL12RB1 (G634E +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GBenign
Select item 541819	NM_005535.3(IL12RB1):c.1768A>T (p.Ile590Phe)	IL12RB1 (I590F +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 1445577	NM_005535.3(IL12RB1):c.1765G>A (p.Ala589Thr)	IL12RB1 (A589T +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 889997	NM_005535.3(IL12RB1):c.1764C>T (p.Ser588=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GConflicting classifications of pathogenicity
Select item 1360331	NM_005535.3(IL12RB1):c.1750C>T (p.Pro584Ser)	IL12RB1 (P584S +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 1467300	NM_005535.3(IL12RB1):c.1748C>T (p.Thr583Ile)	IL12RB1 (T623I +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 889998	NM_005535.3(IL12RB1):c.1746C>T (p.Pro582=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GConflicting classifications of pathogenicity
Select item 795933	NM_005535.3(IL12RB1):c.1740G>A (p.Pro580=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 838222	NM_005535.3(IL12RB1):c.1739C>T (p.Pro580Leu)	IL12RB1 (P620L +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GUncertain significance
Select item 889999	NM_005535.3(IL12RB1):c.1737G>A (p.Pro579=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GConflicting classifications of pathogenicity
Select item 1060309	NM_005535.3(IL12RB1):c.1736C>T (p.Pro579Leu)	IL12RB1 (P579L +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 1133490	NM_005535.3(IL12RB1):c.1734C>T (p.Cys578=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 656215	NM_005535.3(IL12RB1):c.1724G>A (p.Arg575Gln)	IL12RB1 (R575Q +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 959092	NM_005535.3(IL12RB1):c.1723C>T (p.Arg575Trp)	IL12RB1 (R575W +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 2360722	NM_005535.3(IL12RB1):c.1720G>A (p.Ala574Thr)	IL12RB1 (A614T +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 522257	NM_005535.3(IL12RB1):c.1719C>T (p.Ala573=)	IL12RB1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2886414	NM_005535.3(IL12RB1):c.1716-8C>A	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 1131721	NM_005535.3(IL12RB1):c.1716-8C>T	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 946078	NM_005535.3(IL12RB1):c.1716-9_1716-8insGGTCCCCTTTCATCCCCA	IL12RB1	Insertion (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 1590171	NM_005535.3(IL12RB1):c.1716-13C>A	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 1162157	NM_005535.3(IL12RB1):c.1715+9C>T	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 2142764	NM_005535.3(IL12RB1):c.1691T>C (p.Val564Ala)	IL12RB1 (V564A +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 2015497	NM_005535.3(IL12RB1):c.1690dup (p.Val564fs)	IL12RB1 (V564fs +1 more)	Duplication (frameshift variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GPathogenic
Select item 935111	NM_005535.3(IL12RB1):c.1684G>A (p.Val562Met)	IL12RB1 (V562M +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 2107792	NM_005535.3(IL12RB1):c.1683C>A (p.Leu561=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 569684	NM_005535.3(IL12RB1):c.1661G>A (p.Gly554Glu)	IL12RB1 (G554E +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 1930018	NM_005535.3(IL12RB1):c.1656C>A (p.Ser552=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 1123248	NM_005535.3(IL12RB1):c.1653C>T (p.Ala551=)	IL12RB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 948507	NM_005535.3(IL12RB1):c.1651G>A (p.Ala551Thr)	IL12RB1 (A551T +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 891552	NM_005535.3(IL12RB1):c.1650C>T (p.Phe550=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GConflicting classifications of pathogenicity
Select item 957145	NM_005535.3(IL12RB1):c.1627G>C (p.Val543Leu)	IL12RB1 (V583L +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 853655	NM_005535.3(IL12RB1):c.1623_1624delinsTT (p.Gln542Ter)	IL12RB1 (Q542* +1 more)	Indel (nonsense)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GPathogenic
Select item 2073127	NM_005535.3(IL12RB1):c.1621G>C (p.Val541Leu)	IL12RB1 (V541L +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 578545	NM_005535.3(IL12RB1):c.1621G>A (p.Val541Met)	IL12RB1 (V541M +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 2762541	NM_005535.3(IL12RB1):c.1619-5C>G	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 1141953	NM_005535.3(IL12RB1):c.1619-6C>T	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 2954810	NM_005535.3(IL12RB1):c.1619-16C>T	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 1936173	NM_005535.3(IL12RB1):c.1619-17A>C	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 1584327	NM_005535.3(IL12RB1):c.1618+13G>A	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 2910989	NM_005535.3(IL12RB1):c.1618+11G>T	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 1647657	NM_005535.3(IL12RB1):c.1618+11G>C	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 858475	NM_005535.3(IL12RB1):c.1618+1G>T	IL12RB1	Single nucleotide variant (splice donor variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely pathogenic
Select item 955378	NM_005535.3(IL12RB1):c.1617C>A (p.Ile539=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 891553	NM_005535.3(IL12RB1):c.1617C>T (p.Ile539=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 1402371	NM_005535.3(IL12RB1):c.1616T>A (p.Ile539Asn)	IL12RB1 (I539N +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 2089597	NM_005535.3(IL12RB1):c.1615A>C (p.Ile539Leu)	IL12RB1 (I539L +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 2416466	NM_005535.3(IL12RB1):c.1607G>A (p.Arg536His)	IL12RB1 (R536H +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 1010585	NM_005535.3(IL12RB1):c.1606C>A (p.Arg536Ser)	IL12RB1 (R536S +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 576243	NM_005535.3(IL12RB1):c.1606C>T (p.Arg536Cys)	IL12RB1 (R536C +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 964750	NM_005535.3(IL12RB1):c.1598_1604delinsCCG (p.Gln533fs)	IL12RB1 (Q533fs +1 more)	Indel (frameshift variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GPathogenic
Select item 657044	NM_005535.3(IL12RB1):c.1588G>A (p.Val530Ile)	IL12RB1 (V530I +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 328579	NM_005535.3(IL12RB1):c.1584G>A (p.Arg528=)	IL12RB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2142661	NM_005535.3(IL12RB1):c.1575G>A (p.Ala525=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 235221	NM_005535.3(IL12RB1):c.1573G>A (p.Ala525Thr)	IL12RB1 (A525T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1526194	NM_005535.3(IL12RB1):c.1561C>T (p.Arg521Ter)	IL12RB1 (R521* +1 more)	Single nucleotide variant (nonsense)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GPathogenic
Select item 1000533	NM_005535.3(IL12RB1):c.1558G>C (p.Val520Leu)	IL12RB1 (V520L +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 644060	NM_005535.3(IL12RB1):c.1558G>T (p.Val520Leu)	IL12RB1 (V520L +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 2172804	NM_005535.3(IL12RB1):c.1556A>G (p.Gln519Arg)	IL12RB1 (Q519R +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 2902063	NM_005535.3(IL12RB1):c.1551G>A (p.Thr517=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 654353	NM_005535.3(IL12RB1):c.1550C>T (p.Thr517Met)	IL12RB1 (T517M +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 2131118	NM_005535.3(IL12RB1):c.1534G>A (p.Ala512Thr)	IL12RB1 (A552T +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 2895723	NM_005535.3(IL12RB1):c.1532G>A (p.Arg511Gln)	IL12RB1 (R511Q +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GUncertain significance

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