"OMIM"[submitter] AND "IL12RB1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 8036	NM_005535.2(IL12RB1):c.700+362_1619-944del	IL12RB1, LOC112543464	Deletion	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GPathogenic
Select item 8033	NM_005535.3(IL12RB1):c.1126C>T (p.Gln376Ter)	IL12RB1 (Q376* +1 more)	Single nucleotide variant (nonsense)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GPathogenic
Select item 155909	NM_005535.3(IL12RB1):c.1061CCA[1] (p.Thr355del)	IL12RB1 (T355del +1 more)	Microsatellite (inframe_deletion)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GPathogenic
Select item 8037	NM_005535.3(IL12RB1):c.1021+1G>C	IL12RB1	Single nucleotide variant (splice donor variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GPathogenic
Select item 8035	NM_005535.3(IL12RB1):c.637C>T (p.Arg213Trp)	IL12RB1 (R213W +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GPathogenic
Select item 8038	NM_005535.3(IL12RB1):c.592T>C (p.Cys198Arg)	IL12RB1 (C198R +1 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GPathogenic
Select item 8032	NM_005535.3(IL12RB1):c.94C>T (p.Gln32Ter)	IL12RB1 (Q32* +1 more)	Single nucleotide variant (nonsense)	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +1 more	GPathogenic
Select item 8034	IL12RB1, 409-549DEL	IL12RB1	Deletion	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	GPathogenic