"Ambry Genetics"[submitter] AND "IL12RB1"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2382935	NM_005535.3(IL12RB1):c.1972T>C (p.Cys658Arg)	IL12RB1 (C658R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 838222	NM_005535.3(IL12RB1):c.1739C>T (p.Pro580Leu)	IL12RB1 (P620L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2297795	NM_005535.3(IL12RB1):c.1564G>A (p.Ala522Thr)	IL12RB1 (A522T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109070	NM_005535.3(IL12RB1):c.1519C>T (p.Leu507Phe)	IL12RB1 (L507F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1029974	NM_005535.3(IL12RB1):c.1484A>G (p.Glu495Gly)	IL12RB1 (E495G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 850939	NM_005535.3(IL12RB1):c.1415G>A (p.Ser472Asn)	IL12RB1 (S512N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3109069	NM_005535.3(IL12RB1):c.1393G>C (p.Asp465His)	IL12RB1 (D505H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 646099	NM_005535.3(IL12RB1):c.1358C>T (p.Ser453Leu)	IL12RB1 (S453L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2066799	NM_005535.3(IL12RB1):c.1273G>A (p.Glu425Lys)	IL12RB1 (E425K +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 653863	NM_005535.3(IL12RB1):c.1265C>T (p.Ala422Val)	IL12RB1 (A462V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1504167	NM_005535.3(IL12RB1):c.1252A>G (p.Ile418Val)	IL12RB1 (I458V +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GUncertain significance
Select item 1064308	NM_005535.3(IL12RB1):c.1178C>T (p.Pro393Leu)	IL12RB1 (P393L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2060568	NM_005535.3(IL12RB1):c.1163C>T (p.Pro388Leu)	IL12RB1 (P388L +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GUncertain significance
Select item 1044858	NM_005535.3(IL12RB1):c.1097C>T (p.Thr366Met)	IL12RB1 (T366M +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GUncertain significance
Select item 2533551	NM_005535.3(IL12RB1):c.761G>A (p.Arg254Lys)	IL12RB1 (R294K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 844953	NM_005535.3(IL12RB1):c.751G>A (p.Asp251Asn)	IL12RB1 (D251N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 654513	NM_005535.3(IL12RB1):c.733G>T (p.Val245Leu)	IL12RB1 (V285L +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GUncertain significance
Select item 2605685	NM_005535.3(IL12RB1):c.729C>G (p.Phe243Leu)	IL12RB1 (F243L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2177935	NM_005535.3(IL12RB1):c.682C>T (p.Pro228Ser)	IL12RB1 (P228S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1461034	NM_005535.3(IL12RB1):c.638G>A (p.Arg213Gln)	IL12RB1 (R213Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 639105	NM_005535.3(IL12RB1):c.559G>A (p.Gly187Arg)	IL12RB1 (G187R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 642530	NM_005535.3(IL12RB1):c.458G>A (p.Gly153Glu)	IL12RB1 (G153E +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GUncertain significance
Select item 1420621	NM_005535.3(IL12RB1):c.442G>A (p.Val148Met)	IL12RB1 (V148M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2315201	NM_005535.3(IL12RB1):c.433G>C (p.Asp145His)	IL12RB1 (D145H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 569081	NM_005535.3(IL12RB1):c.420G>C (p.Glu140Asp)	IL12RB1 (E140D +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 3109072	NM_005535.3(IL12RB1):c.359G>C (p.Arg120Thr)	IL12RB1 (R160T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256875	NM_005535.3(IL12RB1):c.313G>T (p.Val105Leu)	IL12RB1 (V105L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354473	NM_005535.3(IL12RB1):c.121T>C (p.Ser41Pro)	IL12RB1 (S41P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2044233	NM_005535.3(IL12RB1):c.83A>G (p.Glu28Gly)	IL12RB1 (E68G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1428532	NM_005535.3(IL12RB1):c.61G>A (p.Gly21Ser)	IL12RB1 (G61S +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GUncertain significance
Select item 3109071	NM_005535.3(IL12RB1):c.19T>C (p.Trp7Arg)	IL12RB1 (W7R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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Items: 32