Related gene-specific medical variations for Gene (Select 4792) - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2979792	NM_020529.3(NFKBIA):c.419G>A (p.Arg140Gln)	LOC130055494, NFKBIA (R140Q)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2976390	NM_020529.3(NFKBIA):c.12G>A (p.Ala4=)	LOC130055497, NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2920041	NM_020529.3(NFKBIA):c.373G>C (p.Glu125Gln)	LOC130055494, NFKBIA (E125Q)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2810954	NM_020529.3(NFKBIA):c.439C>A (p.Pro147Thr)	LOC130055494, NFKBIA (P147T)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2808955	NM_020529.3(NFKBIA):c.2T>C (p.Met1Thr)	LOC130055497, NFKBIA (M1T)	Single nucleotide variant (missense variant +1 more)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2789619	NM_020529.3(NFKBIA):c.337-17C>G	LOC130055494, NFKBIA	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2781322	NM_020529.3(NFKBIA):c.74T>C (p.Leu25Pro)	LOC130055497, NFKBIA (L25P)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2751254	NM_020529.3(NFKBIA):c.366C>G (p.Asn122Lys)	LOC130055494, NFKBIA (N122K)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2735725	NM_020529.3(NFKBIA):c.441C>G (p.Pro147=)	LOC130055494, NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2728827	NM_020529.3(NFKBIA):c.51C>T (p.Arg17=)	LOC130055497, NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2701568	NM_020529.3(NFKBIA):c.392T>G (p.Leu131Arg)	LOC130055494, NFKBIA (L131R)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2635721	NM_020529.3(NFKBIA):c.3G>A (p.Met1Ile)	LOC130055497, NFKBIA (M1I)	Single nucleotide variant (missense variant +1 more)	NFKBIA-related disorder	GUncertain significance
Select item 2577914	NM_020529.3(NFKBIA):c.28G>T (p.Glu10Ter)	LOC130055497, NFKBIA (E10*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia and immunodeficiency 2	GPathogenic
Select item 2543418	NM_020529.3(NFKBIA):c.415C>T (p.Leu139Phe)	LOC130055494, NFKBIA (L139F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2197521	NM_020529.3(NFKBIA):c.419G>C (p.Arg140Pro)	NFKBIA, LOC130055494 (R140P)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2182642	NM_020529.3(NFKBIA):c.44G>A (p.Gly15Asp)	LOC130055497, NFKBIA (G15D)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2169347	NM_020529.3(NFKBIA):c.19C>T (p.Arg7Cys)	LOC130055497, NFKBIA (R7C)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2155610	NM_020529.3(NFKBIA):c.27G>A (p.Gln9=)	LOC130055497, NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2113492	NM_020529.3(NFKBIA):c.227+5G>A	LOC130055496, NFKBIA	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2096734	NM_020529.3(NFKBIA):c.410del (p.Pro137fs)	LOC130055494, NFKBIA (P137fs)	Deletion (frameshift variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2084342	NM_020529.3(NFKBIA):c.428G>A (p.Arg143Gln)	LOC130055494, NFKBIA (R143Q)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2031799	NM_020529.3(NFKBIA):c.227+17C>T	LOC130055496, NFKBIA	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2003281	NM_020529.3(NFKBIA):c.416T>G (p.Leu139Arg)	LOC130055494, NFKBIA (L139R)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 1993316	NM_020529.3(NFKBIA):c.18G>A (p.Glu6=)	LOC130055497, NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 1974617	NM_020529.3(NFKBIA):c.50G>A (p.Arg17His)	LOC130055497, NFKBIA (R17H)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 1946653	NM_020529.3(NFKBIA):c.416T>C (p.Leu139Pro)	LOC130055494, NFKBIA (L139P)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 1714669	NM_020529.3(NFKBIA):c.46C>G (p.Pro16Ala)	LOC130055497, NFKBIA (P16A)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 1610811	NM_020529.3(NFKBIA):c.441C>T (p.Pro147=)	LOC130055494, NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 1578491	NM_020529.3(NFKBIA):c.337-15C>T	LOC130055494, NFKBIA	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 1567101	NM_020529.3(NFKBIA):c.45C>T (p.Gly15=)	LOC130055497, NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 1559668	NM_020529.3(NFKBIA):c.403T>G (p.Cys135Gly)	LOC130055494, NFKBIA (C135G)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 1424904	NM_020529.3(NFKBIA):c.55G>A (p.Gly19Arg)	LOC130055497, NFKBIA (G19R)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 1404682	NM_020529.3(NFKBIA):c.340C>G (p.Pro114Ala)	LOC130055494, NFKBIA (P114A)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 1394574	NM_020529.3(NFKBIA):c.61AAG[1] (p.Lys22del)	LOC130055497, NFKBIA (K22del)	Microsatellite (inframe_deletion)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 1378105	NM_020529.3(NFKBIA):c.11C>T (p.Ala4Val)	LOC130055497, NFKBIA (A4V)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 1310121	NM_020529.3(NFKBIA):c.14C>T (p.Ala5Val)	LOC130055497, NFKBIA (A5V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1283234	NM_020529.3(NFKBIA):c.336+104T>C	LOC130055495, NFKBIA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1244736	NM_020529.3(NFKBIA):c.227+249dup	LOC130055496, NFKBIA	Duplication (intron variant)	not provided	GBenign
Select item 1225867	NM_020529.3(NFKBIA):c.227+57T>A	LOC130055496, NFKBIA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1164595	NM_020529.3(NFKBIA):c.227+16C>T	LOC130055496, NFKBIA	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GBenign
Select item 1132949	NM_020529.3(NFKBIA):c.345C>G (p.Leu115=)	LOC130055494, NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 1128912	NM_020529.3(NFKBIA):c.444A>C (p.Leu148=)	LOC130055494, NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 1124692	NM_020529.3(NFKBIA):c.442C>T (p.Leu148=)	LOC130055494, NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 1087423	NM_020529.3(NFKBIA):c.63G>A (p.Lys21=)	LOC130055497, NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 1078505	NM_020529.3(NFKBIA):c.30G>A (p.Glu10=)	LOC130055497, NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 1033535	NM_020529.3(NFKBIA):c.337-20G>A	LOC130055494, NFKBIA	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GConflicting classifications of pathogenicity
Select item 945324	NM_020529.3(NFKBIA):c.341C>T (p.Pro114Leu)	LOC130055494, NFKBIA (P114L)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 883038	NM_020529.3(NFKBIA):c.-73C>A	LOC130055497, NFKBIA	Single nucleotide variant (5 prime UTR variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 883037	NM_020529.3(NFKBIA):c.-42G>T	NFKBIA, LOC130055497	Single nucleotide variant (5 prime UTR variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 883036	NM_020529.3(NFKBIA):c.-41G>A	LOC130055497, NFKBIA	Single nucleotide variant (5 prime UTR variant)	Ectodermal dysplasia and immunodeficiency 2 +1 more	GBenign
Select item 842008	NM_020529.3(NFKBIA):c.52G>A (p.Asp18Asn)	LOC130055497, NFKBIA (D18N)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 807106	NM_020529.3(NFKBIA):c.452C>G (p.Ala151Gly)	LOC130055494, NFKBIA (A151G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 648247	NM_020529.3(NFKBIA):c.368A>G (p.Gln123Arg)	LOC130055494, NFKBIA (Q123R)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 583048	NM_020529.3(NFKBIA):c.437C>T (p.Thr146Ile)	LOC130055494, NFKBIA (T146I)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 576934	NM_020529.3(NFKBIA):c.337-3T>C	LOC130055494, NFKBIA	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GConflicting classifications of pathogenicity
Select item 570970	NM_020529.3(NFKBIA):c.409C>T (p.Pro137Ser)	LOC130055494, NFKBIA (P137S)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 452693	NM_020529.3(NFKBIA):c.33G>A (p.Trp11Ter)	LOC130055497, NFKBIA (W11*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 440006	NM_020529.3(NFKBIA):c.16G>A (p.Glu6Lys)	LOC130055497, NFKBIA (E6K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 313121	NM_020529.3(NFKBIA):c.-80C>T	LOC130055497, NFKBIA	Single nucleotide variant (5 prime UTR variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 313120	NM_020529.3(NFKBIA):c.-87_-80dup	LOC130055497, NFKBIA	Duplication (5 prime UTR variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 313119	NM_020529.3(NFKBIA):c.-66G>A	LOC130055497, NFKBIA	Single nucleotide variant (5 prime UTR variant)	Ectodermal dysplasia and immunodeficiency 2 +1 more	GBenign
Select item 313114	NM_020529.3(NFKBIA):c.379G>A (p.Ala127Thr)	LOC130055494, NFKBIA (A127T)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 280143	NM_020529.3(NFKBIA):c.25C>T (p.Gln9Ter)	LOC130055497, NFKBIA (Q9*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 14005	NM_020529.3(NFKBIA):c.40G>T (p.Glu14Ter)	LOC130055497, NFKBIA (E14*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia and immunodeficiency 2	GPathogenic
Select item 14004	NM_020529.3(NFKBIA):c.32G>A (p.Trp11Ter)	LOC130055497, NFKBIA (W11*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia and immunodeficiency 2 +1 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 65