ClinVar for Gene (Select 3593) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3026992	NM_002187.3(IL12B):c.783C>T (p.Thr261=)	IL12B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016748	NM_002187.3(IL12B):c.510C>T (p.Cys170=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 2985293	NM_002187.3(IL12B):c.364+12C>T	IL12B	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 2966820	NM_002187.3(IL12B):c.482+14C>T	IL12B	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 2909912	NM_002187.3(IL12B):c.96C>T (p.Val32=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
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 2893653	NM_002187.3(IL12B):c.364+17G>T	IL12B	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 2893379	NM_002187.3(IL12B):c.507dup (p.Cys170fs)	IL12B (C170fs)	Duplication (frameshift variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GPathogenic
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 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 2859768	NM_002187.3(IL12B):c.383_386del (p.Thr127_Phe128insTer)	IL12B	Deletion (nonsense)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GPathogenic
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 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 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 2767206	NM_002187.3(IL12B):c.20T>A (p.Val7Asp)	IL12B (V7D)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 2721077	NM_002187.3(IL12B):c.482+10A>T	IL12B	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 2701815	NM_002187.3(IL12B):c.364+1G>T	IL12B	Single nucleotide variant (splice donor variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely pathogenic
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 2628273	NM_002187.3(IL12B):c.856-22C>T	IL12B	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628262	NM_002187.3(IL12B):c.483-36T>G	IL12B	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628167	NM_002187.3(IL12B):c.364+49A>G	IL12B	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2480483	NM_002187.3(IL12B):c.20T>G (p.Val7Gly)	IL12B (V7G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424368	NC_000005.9:g.(?_158753683)_(158753790_?)del	IL12B	Deletion	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GPathogenic
Select item 2421265	NM_002187.3(IL12B):c.456G>A (p.Leu152=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 2415842	NM_002187.3(IL12B):c.89-3C>T	IL12B	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 2415594	NM_002187.3(IL12B):c.672C>G (p.Thr224=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 2415015	NM_002187.3(IL12B):c.24C>G (p.Ile8Met)	IL12B (I8M)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 2335200	NM_002187.3(IL12B):c.261G>C (p.Gln87His)	IL12B (Q87H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2240583	NM_002187.3(IL12B):c.89T>C (p.Val30Ala)	IL12B (V30A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2171798	NM_002187.3(IL12B):c.437C>T (p.Thr146Met)	IL12B (T146M)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 2170763	NM_002187.3(IL12B):c.270T>C (p.Cys90=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
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 2162141	NM_002187.3(IL12B):c.115C>G (p.Pro39Ala)	IL12B (P39A)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 2152264	NM_002187.3(IL12B):c.197G>A (p.Ser66Asn)	IL12B (S66N)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 2150119	NM_002187.3(IL12B):c.51A>G (p.Ala17=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency +1 more	GLikely benign
Select item 2149525	NM_002187.3(IL12B):c.394G>A (p.Glu132Lys)	IL12B (E132K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2142278	NM_002187.3(IL12B):c.482+16C>G	IL12B	Single nucleotide variant (intron 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 2139648	NM_002187.3(IL12B):c.501G>A (p.Gly167=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 2131315	NM_002187.3(IL12B):c.60C>A (p.Leu20=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
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 2113378	NM_002187.3(IL12B):c.88+20T>G	IL12B	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
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 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 2072721	NM_002187.3(IL12B):c.89-17C>T	IL12B	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 2051210	NM_002187.3(IL12B):c.88+8G>C	IL12B	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
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 2018755	NM_002187.3(IL12B):c.365-11T>C	IL12B	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	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 2011046	NM_002187.3(IL12B):c.72G>C (p.Trp24Cys)	IL12B (W24C)	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 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 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 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 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 1928992	NM_002187.3(IL12B):c.201G>T (p.Glu67Asp)	IL12B (E67D)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 1927114	NM_002187.3(IL12B):c.371A>G (p.Lys124Arg)	IL12B (K124R)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 1913754	NM_002187.3(IL12B):c.632T>C (p.Met211Thr)	IL12B (M211T)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 1912384	NM_002187.3(IL12B):c.89-20C>T	IL12B	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 1879644	GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1	ADAM19, ADRA1B +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1715148	NM_002187.3(IL12B):c.410C>G (p.Ser137Cys)	IL12B (S137C)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 1710092	NM_002187.3(IL12B):c.89-14T>C	IL12B	Single nucleotide variant (intron variant)	Inherited susceptibility to mycobacterial diseases	GLikely benign
Select item 1707452	Single allele	ADRA1B, ATP10B +110 more	Duplication	not specified	GUncertain significance
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1664122	NM_002187.3(IL12B):c.438G>A (p.Thr146=)	IL12B	Single nucleotide variant (synonymous 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 1649667	NM_002187.3(IL12B):c.482+10A>G	IL12B	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 1647963	NM_002187.3(IL12B):c.333T>C (p.Ile111=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 1609549	NM_002187.3(IL12B):c.60C>T (p.Leu20=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
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 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 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 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 1553856	NM_002187.3(IL12B):c.364+13C>G	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
Select item 1545184	NM_002187.3(IL12B):c.108T>C (p.Asp36=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
Select item 1542194	NM_002187.3(IL12B):c.627G>A (p.Glu209=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely benign
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 1513218	NM_002187.3(IL12B):c.494C>G (p.Pro165Arg)	IL12B (P165R)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 1508793	NM_002187.3(IL12B):c.30G>C (p.Trp10Cys)	IL12B (W10C)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 1507501	NM_002187.3(IL12B):c.116C>T (p.Pro39Leu)	IL12B (P39L)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 1500360	NM_002187.3(IL12B):c.79A>C (p.Lys27Gln)	IL12B (K27Q)	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 1471505	NM_002187.3(IL12B):c.282C>T (p.Gly94=)	IL12B	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 1463510	NC_000005.9:g.(?_158743693)_(158753790_?)dup	IL12B	Duplication	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 1462206	NM_002187.3(IL12B):c.182C>A (p.Thr61Asn)	IL12B (T61N)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 1450297	NM_002187.3(IL12B):c.485C>A (p.Ser162Tyr)	IL12B (S162Y)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 1446196	NM_002187.3(IL12B):c.285G>C (p.Glu95Asp)	IL12B (E95D)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
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 1439370	NM_002187.3(IL12B):c.938G>A (p.Arg313His)	IL12B (R313H)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency +1 more	GUncertain significance
Select item 1419326	NM_002187.3(IL12B):c.622A>G (p.Ile208Val)	IL12B (I208V)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 1397991	NM_002187.3(IL12B):c.633G>A (p.Met211Ile)	IL12B (M211I)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 1388535	NM_002187.3(IL12B):c.374A>G (p.Asn125Ser)	IL12B (N125S)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 1386553	NM_002187.3(IL12B):c.367C>G (p.Pro123Ala)	IL12B (P123A)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 1375530	NM_002187.3(IL12B):c.139G>T (p.Val47Phe)	IL12B (V47F)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 1375353	NM_002187.3(IL12B):c.271C>T (p.His91Tyr)	IL12B (H91Y)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GUncertain significance
Select item 1366710	NM_002187.3(IL12B):c.697+5G>A	IL12B	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	GLikely pathogenic
Select item 1339784	GRCh37/hg19 5q33.3-34(chr5:155970607-162450579)x1	ADAM19, ADRA1B +33 more	Copy number loss	not provided	Gnot provided

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