C4013949[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Search results

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 328572	NM_005535.3(IL12RB1):c.*34C>T	IL12RB1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GBenign
Select item 328573	NM_005535.3(IL12RB1):c.*30C>T	IL12RB1	Single nucleotide variant (3 prime UTR variant)	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)	IL12RB1-related condition +2 more	GConflicting classifications of pathogenicity
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	GLikely benign
Select item 328577	NM_005535.3(IL12RB1):c.1866C>G (p.Ser622=)	IL12RB1	Single nucleotide variant (synonymous 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)	IL12RB1-related condition +2 more	GLikely benign
Select item 889996	NM_005535.3(IL12RB1):c.1770T>G (p.Ile590Met)	IL12RB1 (I590M +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
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 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 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 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 522257	NM_005535.3(IL12RB1):c.1719C>T (p.Ala573=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +2 more	GBenign/Likely benign
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 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 328579	NM_005535.3(IL12RB1):c.1584G>A (p.Arg528=)	IL12RB1	Single nucleotide variant (synonymous variant)	IL12RB1-related condition +2 more	GBenign
Select item 235221	NM_005535.3(IL12RB1):c.1573G>A (p.Ala525Thr)	IL12RB1 (A525T +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GBenign/Likely benign
Select item 891554	NM_005535.3(IL12RB1):c.1461T>A (p.Asp487Glu)	IL12RB1 (D527E +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GLikely benign
Select item 328580	NM_005535.3(IL12RB1):c.1461T>C (p.Asp487=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 541820	NM_005535.3(IL12RB1):c.1451G>A (p.Arg484His)	IL12RB1 (R484H +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 328581	NM_005535.3(IL12RB1):c.1450C>T (p.Arg484Cys)	IL12RB1 (R484C +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 328582	NM_005535.3(IL12RB1):c.1429G>A (p.Val477Ile)	IL12RB1 (V477I +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 891816	NM_005535.3(IL12RB1):c.1425C>T (p.Pro475=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 891817	NM_005535.3(IL12RB1):c.1329C>T (p.Ala443=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 328583	NM_005535.3(IL12RB1):c.1327+9C>A	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GConflicting classifications of pathogenicity
Select item 725141	NM_005535.3(IL12RB1):c.1269C>T (p.His423=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GConflicting classifications of pathogenicity
Select item 891818	NM_005535.3(IL12RB1):c.1208G>A (p.Arg403Gln)	IL12RB1 (R403Q +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 328584	NM_005535.3(IL12RB1):c.1197C>T (p.Tyr399=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GConflicting classifications of pathogenicity
Select item 889371	NM_005535.3(IL12RB1):c.1190-13C>T	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GConflicting classifications of pathogenicity
Select item 328585	NM_005535.3(IL12RB1):c.1179G>A (p.Pro393=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GConflicting classifications of pathogenicity
Select item 889372	NM_005535.3(IL12RB1):c.1173G>A (p.Pro391=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GConflicting classifications of pathogenicity
Select item 474975	NM_005535.3(IL12RB1):c.1172C>T (p.Pro391Leu)	IL12RB1 (P391L +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 328586	NM_005535.3(IL12RB1):c.1149C>T (p.Cys383=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GBenign
Select item 889373	NM_005535.3(IL12RB1):c.1132G>A (p.Gly378Arg)	IL12RB1 (G378R +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GConflicting classifications of pathogenicity
Select item 328587	NM_005535.3(IL12RB1):c.1132G>C (p.Gly378Arg)	IL12RB1 (G378R +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GBenign
Select item 541824	NM_005535.3(IL12RB1):c.1098G>A (p.Thr366=)	IL12RB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 328588	NM_005535.3(IL12RB1):c.1094T>C (p.Met365Thr)	IL12RB1 (M365T +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GBenign
Select item 773900	NM_005535.3(IL12RB1):c.1056C>T (p.Asn352=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GBenign
Select item 580063	NM_005535.3(IL12RB1):c.1048G>A (p.Gly350Arg)	IL12RB1 (G350R +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GConflicting classifications of pathogenicity
Select item 328589	NM_005535.3(IL12RB1):c.930G>A (p.Ser310=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GConflicting classifications of pathogenicity
Select item 890061	NM_005535.3(IL12RB1):c.923A>G (p.Tyr308Cys)	IL12RB1 (Y308C +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 474979	NM_005535.3(IL12RB1):c.848G>A (p.Arg283Gln)	IL12RB1 (R283Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 328590	NM_005535.3(IL12RB1):c.824C>T (p.Ala275Val)	IL12RB1 (A275V +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GConflicting classifications of pathogenicity
Select item 890062	NM_005535.3(IL12RB1):c.812G>C (p.Cys271Ser)	IL12RB1 (C271S +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 328591	NM_005535.3(IL12RB1):c.783+10C>T	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +2 more	GBenign/Likely benign
Select item 891608	NM_005535.3(IL12RB1):c.735G>A (p.Val245=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GConflicting classifications of pathogenicity
Select item 328592	NM_005535.3(IL12RB1):c.732G>T (p.Ser244=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GConflicting classifications of pathogenicity
Select item 328593	NM_005535.3(IL12RB1):c.712C>G (p.Gln238Glu)	IL12RB1 (Q238E +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 328594	NM_005535.3(IL12RB1):c.701-6T>C	IL12RB1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GConflicting classifications of pathogenicity
Select item 328595	NM_005535.3(IL12RB1):c.695C>T (p.Pro232Leu)	IL12RB1 (P232L +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 328596	NM_005535.3(IL12RB1):c.684C>T (p.Pro228=)	IL12RB1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 891609	NM_005535.3(IL12RB1):c.653A>C (p.Gln218Pro)	IL12RB1 (Q218P +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 328597	NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg)	IL12RB1 (Q214R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A +2 more	GBenign/Likely benign
Select item 788260	NM_005535.3(IL12RB1):c.602A>C (p.Glu201Ala)	IL12RB1 (E241A +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GBenign/Likely benign
Select item 891877	NM_005535.3(IL12RB1):c.561A>T (p.Gly187=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GConflicting classifications of pathogenicity
Select item 328598	NM_005535.3(IL12RB1):c.467G>A (p.Arg156His)	IL12RB1 (R156H +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A +2 more	GBenign/Likely benign
Select item 791513	NM_005535.3(IL12RB1):c.390C>T (p.Thr130=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 328599	NM_005535.3(IL12RB1):c.387G>C (p.Val129=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GBenign
Select item 328600	NM_005535.3(IL12RB1):c.320T>C (p.Val107Ala)	IL12RB1 (V107A +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GConflicting classifications of pathogenicity
Select item 328601	NM_005535.3(IL12RB1):c.309T>C (p.Ala103=)	IL12RB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 721943	NM_005535.3(IL12RB1):c.273C>T (p.Ala91=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GConflicting classifications of pathogenicity
Select item 328602	NM_005535.3(IL12RB1):c.271G>A (p.Ala91Thr)	IL12RB1 (A91T +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GBenign
Select item 541822	NM_005535.3(IL12RB1):c.261C>T (p.Cys87=)	IL12RB1	Single nucleotide variant (synonymous variant)	IL12RB1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 425167	NM_005535.3(IL12RB1):c.222C>G (p.Ser74Arg)	IL12RB1 (S74R +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GLikely benign
Select item 328603	NM_005535.3(IL12RB1):c.180C>T (p.Tyr60=)	IL12RB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 889429	NM_005535.3(IL12RB1):c.161G>A (p.Arg54Gln)	IL12RB1 (R94Q +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 889430	NM_005535.3(IL12RB1):c.143G>A (p.Arg48Lys)	IL12RB1 (R48K +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 328604	NM_005535.3(IL12RB1):c.139C>T (p.Pro47Ser)	IL12RB1 (P47S +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GBenign
Select item 474974	NM_005535.3(IL12RB1):c.102G>A (p.Pro34=)	IL12RB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 890108	NM_005535.3(IL12RB1):c.101C>T (p.Pro34Leu)	IL12RB1 (P34L +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 890109	NM_005535.3(IL12RB1):c.8C>T (p.Pro3Leu)	IL12RB1 (P43L +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance
Select item 328605	NM_005535.3(IL12RB1):c.-2C>T	IL12RB1 (P40L)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GBenign
Select item 890110	NM_005535.3(IL12RB1):c.-51C>T	LOC130063972, IL12RB1 (R24C)	Single nucleotide variant (5 prime UTR variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GUncertain significance

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Items: 74