3593[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 1707452	Single allele	ADRA1B, ATP10B +111 more	Duplication	not specified	GUncertain significance
Select item 149967	GRCh38/hg38 5q33.3-34(chr5:158941354-164386760)x1	GABRA1, GABRA6 +108 more	Copy number loss	See cases	GPathogenic
Select item 904827	NM_002187.3(IL12B):c.*1312T>A	IL12B	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 352552	NM_002187.3(IL12B):c.*1260ATTT[3]	IL12B	Microsatellite (3 prime UTR variant)	Familial Atypical Mycobacteriosis, Autosomal Recessive	GUncertain significance
Select item 352553	NM_002187.3(IL12B):c.*1232A>G	IL12B	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 352554	NM_002187.3(IL12B):c.*1095C>A	IL12B	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GBenign
Select item 352555	NM_002187.3(IL12B):c.*1082del	IL12B	Deletion (3 prime UTR variant)	Familial Atypical Mycobacteriosis, Autosomal Recessive	GUncertain significance
Select item 904828	NM_002187.3(IL12B):c.*1069G>T	IL12B	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 906440	NM_002187.3(IL12B):c.*1036C>T	IL12B	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 352556	NM_002187.3(IL12B):c.*1016T>A	IL12B	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 352557	NM_002187.3(IL12B):c.*991del	IL12B	Deletion (3 prime UTR variant)	Familial Atypical Mycobacteriosis, Autosomal Recessive	GUncertain significance
Select item 906441	NM_002187.3(IL12B):c.*984A>T	IL12B	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 906442	NM_002187.3(IL12B):c.*957C>T	IL12B	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 352558	NM_002187.3(IL12B):c.*901dup	IL12B	Duplication (3 prime UTR variant)	Familial Atypical Mycobacteriosis, Autosomal Recessive	GUncertain significance
Select item 352559	NM_002187.3(IL12B):c.*901del	IL12B	Deletion (3 prime UTR variant)	Familial Atypical Mycobacteriosis, Autosomal Recessive	GBenign
Select item 352560	NM_002187.3(IL12B):c.*883C>A	IL12B	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GBenign
Select item 906443	NM_002187.3(IL12B):c.*840G>A	IL12B	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 352561	NM_002187.3(IL12B):c.*780G>A	IL12B	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 352562	NM_002187.3(IL12B):c.*746C>T	IL12B	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 907436	NM_002187.3(IL12B):c.*696C>G	IL12B	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 352563	NM_002187.3(IL12B):c.*520C>T	IL12B	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 352564	NM_002187.3(IL12B):c.*497C>T	IL12B	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 352565	NM_002187.3(IL12B):c.*486A>G	IL12B	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 907437	NM_002187.3(IL12B):c.*437A>G	IL12B	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 352566	NM_002187.3(IL12B):c.*408C>T	IL12B	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 907438	NM_002187.3(IL12B):c.*395A>T	IL12B	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 907439	NM_002187.3(IL12B):c.*324T>C	IL12B	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 904115	NM_002187.3(IL12B):c.*293G>A	IL12B	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 352567	NM_002187.3(IL12B):c.*230C>T	IL12B	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 352568	NM_002187.3(IL12B):c.*225A>C	IL12B	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GBenign
Select item 352569	NM_002187.3(IL12B):c.*159A>C	IL12B	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GBenign
Select item 352570	NM_002187.3(IL12B):c.*121dup	IL12B	Duplication (3 prime UTR variant)	Familial Atypical Mycobacteriosis, Autosomal Recessive	GUncertain significance
Select item 904116	NM_002187.3(IL12B):c.*1G>A	IL12B	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GBenign
Select item 541807	NM_002187.3(IL12B):c.973G>A (p.Val325Met)	IL12B (V325M)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency +1 more	GUncertain significance
Select item 1936054	NM_002187.3(IL12B):c.965G>T (p.Trp322Leu)	IL12B (W322L)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 582623	NM_002187.3(IL12B):c.961G>A (p.Glu321Lys)	IL12B (E321K)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 352571	NM_002187.3(IL12B):c.960C>T (p.Ser320=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GConflicting classifications of pathogenicity
Select item 2858797	NM_002187.3(IL12B):c.951A>G (p.Ser317=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 1561996	NM_002187.3(IL12B):c.948C>T (p.Ser316=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 1439370	NM_002187.3(IL12B):c.938G>A (p.Arg313His)	IL12B (R313H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 960736	NM_002187.3(IL12B):c.938G>T (p.Arg313Leu)	IL12B (R313L)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 940657	NM_002187.3(IL12B):c.937C>T (p.Arg313Cys)	IL12B (R313C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1021347	NM_002187.3(IL12B):c.933G>C (p.Gln311His)	IL12B (Q311H)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 1514169	NM_002187.3(IL12B):c.926G>A (p.Arg309Gln)	IL12B (R309Q)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 541806	NM_002187.3(IL12B):c.925C>A (p.Arg309=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 834562	NM_002187.3(IL12B):c.922G>A (p.Val308Met)	IL12B (V308M)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 1116567	NM_002187.3(IL12B):c.921C>T (p.Ser307=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 1943770	NM_002187.3(IL12B):c.914G>A (p.Ser305Asn)	IL12B (S305N)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 904117	NM_002187.3(IL12B):c.902G>A (p.Arg301His)	IL12B (R301H)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 999067	NM_002187.3(IL12B):c.901C>T (p.Arg301Cys)	IL12B (R301C)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 970534	NM_002187.3(IL12B):c.900C>A (p.Cys300Ter)	IL12B (C300*)	Single nucleotide variant (nonsense)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GPathogenic
Select item 1583266	NM_002187.3(IL12B):c.897C>T (p.Ile299=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 352572	NM_002187.3(IL12B):c.892G>T (p.Val298Phe)	IL12B (V298F)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GBenign
Select item 2026338	NM_002187.3(IL12B):c.891G>T (p.Thr297=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 1159451	NM_002187.3(IL12B):c.891G>A (p.Thr297=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 858293	NM_002187.3(IL12B):c.890C>T (p.Thr297Met)	IL12B (T297M)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 2103036	NM_002187.3(IL12B):c.885A>C (p.Ser295=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 2139985	NM_002187.3(IL12B):c.882C>T (p.Thr294=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 649924	NM_002187.3(IL12B):c.881C>T (p.Thr294Ile)	IL12B (T294I)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 1478026	NM_002187.3(IL12B):c.874G>T (p.Asp292Tyr)	IL12B (D292Y)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 2875441	NM_002187.3(IL12B):c.873G>A (p.Thr291=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 904893	NM_002187.3(IL12B):c.872C>T (p.Thr291Met)	IL12B (T291M)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 1151407	NM_002187.3(IL12B):c.870C>T (p.Phe290=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 1159646	NM_002187.3(IL12B):c.864A>G (p.Arg288=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 352573	NM_002187.3(IL12B):c.863G>C (p.Arg288Thr)	IL12B (R288T)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GBenign/Likely benign
Select item 1441180	NM_002187.3(IL12B):c.862A>G (p.Arg288Gly)	IL12B (R288G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2169058	NM_002187.3(IL12B):c.860A>T (p.Asp287Val)	IL12B (D287V)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 1560779	NM_002187.3(IL12B):c.856-5T>C	IL12B	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 2784189	NM_002187.3(IL12B):c.856-7T>C	IL12B	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 1660201	NM_002187.3(IL12B):c.856-19C>T	IL12B	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 2628273	NM_002187.3(IL12B):c.856-22C>T	IL12B	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 14053	NC_000005.10:g.(159317671_159317673)_(159322312_159322314)del	IL12B	Deletion	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GPathogenic
Select item 2899110	NM_002187.3(IL12B):c.855+19G>A	IL12B	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 1965485	NM_002187.3(IL12B):c.855G>A (p.Lys285=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 933254	NM_002187.3(IL12B):c.855G>T (p.Lys285Asn)	IL12B (K285N)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 1973862	NM_002187.3(IL12B):c.853A>G (p.Lys285Glu)	IL12B (K285E)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 1591548	NM_002187.3(IL12B):c.849A>G (p.Arg283=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 1969595	NM_002187.3(IL12B):c.848G>C (p.Arg283Thr)	IL12B (R283T)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 2863457	NM_002187.3(IL12B):c.834G>A (p.Gln278=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 1060110	NM_002187.3(IL12B):c.829G>A (p.Val277Ile)	IL12B (V277I)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 839869	NM_002187.3(IL12B):c.823G>A (p.Val275Ile)	IL12B (V275I)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 904894	NM_002187.3(IL12B):c.822C>T (p.Cys274=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GConflicting classifications of pathogenicity
Select item 3026992	NM_002187.3(IL12B):c.783C>T (p.Thr261=)	IL12B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2017213	NM_002187.3(IL12B):c.783C>G (p.Thr261=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 2333660	NM_002187.3(IL12B):c.779A>G (p.Asp260Gly)	IL12B (D260G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3528516	NM_002187.3(IL12B):c.771G>T (p.Glu257Asp)	IL12B (E257D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 541815	NM_002187.3(IL12B):c.749G>A (p.Arg250Gln)	IL12B (R250Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3528515	NM_002187.3(IL12B):c.748C>T (p.Arg250Trp)	IL12B (R250W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 352574	NM_002187.3(IL12B):c.738A>G (p.Leu246=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 2859275	NM_002187.3(IL12B):c.736T>C (p.Leu246=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 1143888	NM_002187.3(IL12B):c.732G>A (p.Lys244=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 2113813	NM_002187.3(IL12B):c.713C>T (p.Pro238Leu)	IL12B (P238L)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 2701546	NM_002187.3(IL12B):c.708C>G (p.Asp236Glu)	IL12B (D236E)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 570949	NM_002187.3(IL12B):c.703C>T (p.Pro235Ser)	IL12B (P235S)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency +1 more	GUncertain significance
Select item 2092038	NM_002187.3(IL12B):c.698-10T>C	IL12B	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 1545921	NM_002187.3(IL12B):c.698-14A>G	IL12B	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign

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