"IL12RB1-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 328575	NM_005535.3(IL12RB1):c.1914T>C (p.Pro638=)	IL12RB1	Single nucleotide variant (synonymous variant)	IL12RB1-related disorder +2 more	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 disorder +2 more	GLikely benign
Select item 3047222	NM_005535.3(IL12RB1):c.1623G>T (p.Val541=)	IL12RB1	Single nucleotide variant (synonymous variant)	IL12RB1-related disorder	GLikely benign
Select item 328579	NM_005535.3(IL12RB1):c.1584G>A (p.Arg528=)	IL12RB1	Single nucleotide variant (synonymous variant)	IL12RB1-related disorder +2 more	GBenign
Select item 328580	NM_005535.3(IL12RB1):c.1461T>C (p.Asp487=)	IL12RB1	Single nucleotide variant (synonymous variant)	IL12RB1-related disorder +1 more	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 773900	NM_005535.3(IL12RB1):c.1056C>T (p.Asn352=)	IL12RB1	Single nucleotide variant (synonymous variant)	IL12RB1-related disorder +1 more	GBenign
Select item 3042396	NM_005535.3(IL12RB1):c.1021+786G>C	IL12RB1 (M343I)	Single nucleotide variant (missense variant +1 more)	IL12RB1-related disorder	GLikely benign
Select item 2637297	NM_005535.3(IL12RB1):c.1021+2dup	IL12RB1	Duplication (splice donor variant)	IL12RB1-related disorder	GUncertain significance
Select item 328591	NM_005535.3(IL12RB1):c.783+10C>T	IL12RB1	Single nucleotide variant (intron variant)	IL12RB1-related disorder +2 more	GBenign/Likely benign
Select item 935167	NM_005535.3(IL12RB1):c.783+5C>T	IL12RB1	Single nucleotide variant (intron variant)	IL12RB1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 788260	NM_005535.3(IL12RB1):c.602A>C (p.Glu201Ala)	IL12RB1 (E241A +1 more)	Single nucleotide variant (missense variant)	IL12RB1-related disorder +1 more	GBenign/Likely benign
Select item 791513	NM_005535.3(IL12RB1):c.390C>T (p.Thr130=)	IL12RB1	Single nucleotide variant (synonymous variant)	IL12RB1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1101051	NM_005535.3(IL12RB1):c.300C>T (p.Ser100=)	IL12RB1	Single nucleotide variant (synonymous variant)	IL12RB1-related disorder +1 more	GLikely benign
Select item 1607318	NM_005535.3(IL12RB1):c.279A>G (p.Ser93=)	IL12RB1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GLikely benign
Select item 328602	NM_005535.3(IL12RB1):c.271G>A (p.Ala91Thr)	IL12RB1 (A91T +1 more)	Single nucleotide variant (missense variant)	IL12RB1-related disorder +1 more	GBenign
Select item 541822	NM_005535.3(IL12RB1):c.261C>T (p.Cys87=)	IL12RB1	Single nucleotide variant (synonymous variant)	IL12RB1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 728808	NM_005535.3(IL12RB1):c.129G>A (p.Ser43=)	IL12RB1	Single nucleotide variant (synonymous variant)	IL12RB1-related disorder +1 more	GBenign/Likely benign
Select item 3042955	NM_005535.3(IL12RB1):c.-67C>T	IL12RB1, LOC130063972	Single nucleotide variant (5 prime UTR variant +1 more)	IL12RB1-related disorder	GLikely benign
Select item 3043577	NM_001290024.1(IL12RB1):c.12-6T>C	IL12RB1, LOC130063972	Single nucleotide variant (intron variant)	IL12RB1-related disorder	GBenign
Select item 3040488	NM_001393504.1(MAST3):c.39+937A>G	IL12RB1, MAST3	Single nucleotide variant (5 prime UTR variant +1 more)	IL12RB1-related disorder	GBenign

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Items: 21