4792[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 154467	GRCh38/hg38 14q13.1-13.3(chr14:33762166-36191750)x1	BAZ1A, BAZ1A-AS1 +88 more	Copy number loss	See cases	GUncertain significance
Select item 154047	GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1	BAZ1A, BAZ1A-AS1 +156 more	Copy number loss	See cases	GPathogenic
Select item 148775	GRCh38/hg38 14q13.2-21.2(chr14:35068276-43994777)x1	BRMS1L, CLEC14A +113 more	Copy number loss	See cases	GPathogenic
Select item 313099	NM_020529.3(NFKBIA):c.*421G>A	NFKBIA	Single nucleotide variant (3 prime UTR variant)	Ectodermal dysplasia and immunodeficiency 2	GBenign
Select item 313100	NM_020529.3(NFKBIA):c.*366G>A	NFKBIA	Single nucleotide variant (3 prime UTR variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 313101	NM_020529.3(NFKBIA):c.*302A>C	NFKBIA	Single nucleotide variant (3 prime UTR variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 313102	NM_020529.3(NFKBIA):c.*263G>T	NFKBIA	Single nucleotide variant (3 prime UTR variant)	Ectodermal dysplasia and immunodeficiency 2	GBenign
Select item 883768	NM_020529.3(NFKBIA):c.*252T>G	NFKBIA	Single nucleotide variant (3 prime UTR variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 313103	NM_020529.3(NFKBIA):c.*195C>T	NFKBIA	Single nucleotide variant (3 prime UTR variant)	Ectodermal dysplasia and immunodeficiency 2	GBenign
Select item 313104	NM_020529.3(NFKBIA):c.142_143dup	NFKBIA	Duplication (3 prime UTR variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 313105	NM_020529.3(NFKBIA):c.*126G>A	NFKBIA	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 883769	NM_020529.3(NFKBIA):c.*102T>G	NFKBIA	Single nucleotide variant (3 prime UTR variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 883770	NM_020529.3(NFKBIA):c.*99T>A	NFKBIA	Single nucleotide variant (3 prime UTR variant)	Ectodermal dysplasia and immunodeficiency 2	GBenign
Select item 313106	NM_020529.3(NFKBIA):c.*78GAA[1]	NFKBIA	Microsatellite (3 prime UTR variant)	not provided +2 more	GBenign
Select item 313107	NM_020529.3(NFKBIA):c.*18G>C	NFKBIA	Single nucleotide variant (3 prime UTR variant)	Ectodermal dysplasia and immunodeficiency 2	GBenign
Select item 313108	NM_020529.3(NFKBIA):c.*2C>T	NFKBIA	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 1581357	NM_020529.3(NFKBIA):c.948G>A (p.Thr316=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2 +1 more	GLikely benign
Select item 2913825	NM_020529.3(NFKBIA):c.947C>T (p.Thr316Met)	NFKBIA (T316M)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 1511599	NM_020529.3(NFKBIA):c.944T>G (p.Leu315Arg)	NFKBIA (L315R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 725358	NM_020529.3(NFKBIA):c.941G>A (p.Arg314His)	NFKBIA (R314H)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GBenign
Select item 945894	NM_020529.3(NFKBIA):c.940C>T (p.Arg314Cys)	NFKBIA (R314C)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 469610	NM_020529.3(NFKBIA):c.936C>T (p.Gly312=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2800444	NM_020529.3(NFKBIA):c.927G>C (p.Val309=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 1720416	NM_020529.3(NFKBIA):c.917A>G (p.Asp306Gly)	NFKBIA (D306G)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2701588	NM_020529.3(NFKBIA):c.912C>G (p.Pro304=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2005720	NM_020529.3(NFKBIA):c.912C>A (p.Pro304=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 881430	NM_020529.3(NFKBIA):c.911C>G (p.Pro304Arg)	NFKBIA (P304R)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2067340	NM_020529.3(NFKBIA):c.907-6T>C	NFKBIA	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 537324	NM_020529.3(NFKBIA):c.907-9T>G	NFKBIA	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 1562992	NM_020529.3(NFKBIA):c.907-15dup	NFKBIA	Duplication (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GBenign
Select item 2744616	NM_020529.3(NFKBIA):c.907-15del	NFKBIA	Deletion (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GBenign
Select item 1279397	NM_020529.3(NFKBIA):c.907-141T>C	NFKBIA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1168215	NM_020529.3(NFKBIA):c.906+20C>T	NFKBIA	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GBenign
Select item 1586877	NM_020529.3(NFKBIA):c.906+19T>C	NFKBIA	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 1565829	NM_020529.3(NFKBIA):c.906+16C>A	NFKBIA	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 636812	NM_020529.3(NFKBIA):c.866_906+4dup	NFKBIA	Duplication (splice donor variant)	Ectodermal dysplasia and immunodeficiency 2 +1 more	GUncertain significance
Select item 2153415	NM_020529.3(NFKBIA):c.904G>A (p.Glu302Lys)	NFKBIA (E302K)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 742722	NM_020529.3(NFKBIA):c.903C>T (p.Asp301=)	NFKBIA	Single nucleotide variant (synonymous variant)	NFKBIA-related disorder +1 more	GBenign/Likely benign
Select item 3006548	NM_020529.3(NFKBIA):c.899A>C (p.Glu300Ala)	NFKBIA (E300A)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 1646820	NM_020529.3(NFKBIA):c.885_896del (p.Phe295_Thr299delinsLeu)	NFKBIA	Deletion (inframe_indel)	Ectodermal dysplasia and immunodeficiency 2 +1 more	GConflicting classifications of pathogenicity
Select item 936184	NM_020529.3(NFKBIA):c.888_896del (p.295FTE[1])	NFKBIA	Deletion (inframe_deletion)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 313109	NM_020529.3(NFKBIA):c.894C>T (p.Phe298=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GBenign/Likely benign
Select item 1643443	NM_020529.3(NFKBIA):c.888G>A (p.Thr296=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 1448965	NM_020529.3(NFKBIA):c.887C>T (p.Thr296Met)	NFKBIA (T296M)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 859175	NM_020529.3(NFKBIA):c.879_887del (p.295_297FTE[1])	NFKBIA	Deletion (inframe_deletion)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2279436	NM_020529.3(NFKBIA):c.882G>T (p.Glu294Asp)	NFKBIA (E294D)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2 +1 more	GUncertain significance
Select item 1478566	NM_020529.3(NFKBIA):c.881A>G (p.Glu294Gly)	NFKBIA (E294G)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 743328	NM_020529.3(NFKBIA):c.876G>A (p.Glu292=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 1599595	NM_020529.3(NFKBIA):c.866A>G (p.Tyr289Cys)	NFKBIA (Y289C)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GBenign
Select item 2048652	NM_020529.3(NFKBIA):c.862A>G (p.Ser288Gly)	NFKBIA (S288G)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 1916323	NM_020529.3(NFKBIA):c.861G>A (p.Glu287=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 1334017	NM_020529.3(NFKBIA):c.853G>A (p.Asp285Asn)	NFKBIA (D285N)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2148619	NM_020529.3(NFKBIA):c.848G>A (p.Ser283Asn)	NFKBIA (S283N)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2 +1 more	GUncertain significance
Select item 565672	NM_020529.3(NFKBIA):c.847A>T (p.Ser283Cys)	NFKBIA (S283C)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 1713918	NM_020529.3(NFKBIA):c.842C>T (p.Pro281Leu)	NFKBIA (P281L)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2724326	NM_020529.3(NFKBIA):c.841C>A (p.Pro281Thr)	NFKBIA (P281T)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2 +1 more	GUncertain significance
Select item 3197881	NM_020529.3(NFKBIA):c.838C>A (p.Leu280Met)	NFKBIA (L280M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2784324	NM_020529.3(NFKBIA):c.838C>G (p.Leu280Val)	NFKBIA (L280V)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2180980	NM_020529.3(NFKBIA):c.826A>G (p.Asn276Asp)	NFKBIA (N276D)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2894370	NM_020529.3(NFKBIA):c.822A>G (p.Leu274=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 567681	NM_020529.3(NFKBIA):c.810C>T (p.Gly270=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2707391	NM_020529.3(NFKBIA):c.792G>C (p.Arg264=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 1097451	NM_020529.3(NFKBIA):c.792G>A (p.Arg264=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 537325	NM_020529.3(NFKBIA):c.791G>A (p.Arg264Gln)	NFKBIA (R264Q)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 649160	NM_020529.3(NFKBIA):c.790C>T (p.Arg264Trp)	NFKBIA (R264W)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2797149	NM_020529.3(NFKBIA):c.784A>T (p.Ser262Cys)	NFKBIA (S262C)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 1473938	NM_020529.3(NFKBIA):c.784A>G (p.Ser262Gly)	NFKBIA (S262G)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 537326	NM_020529.3(NFKBIA):c.783A>C (p.Pro261=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2741101	NM_020529.3(NFKBIA):c.779G>A (p.Arg260His)	NFKBIA (R260H)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 1500526	NM_020529.3(NFKBIA):c.761A>G (p.Tyr254Cys)	NFKBIA (Y254C)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 1088860	NM_020529.3(NFKBIA):c.753T>C (p.Tyr251=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2141964	NM_020529.3(NFKBIA):c.752A>G (p.Tyr251Cys)	NFKBIA (Y251C)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2113283	NM_020529.3(NFKBIA):c.750C>G (p.Gly250=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 1418143	NM_020529.3(NFKBIA):c.742T>C (p.Tyr248His)	NFKBIA (Y248H)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 1958101	NM_020529.3(NFKBIA):c.741C>G (p.Thr247=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2707552	NM_020529.3(NFKBIA):c.732C>T (p.Asn244=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2712343	NM_020529.3(NFKBIA):c.720G>A (p.Gly240=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 800152	NM_020529.3(NFKBIA):c.705C>T (p.Leu235=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2752019	NM_020529.3(NFKBIA):c.693C>A (p.Asp231Glu)	NFKBIA (D231E)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2541651	NM_020529.3(NFKBIA):c.691G>T (p.Asp231Tyr)	NFKBIA (D231Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2103294	NM_020529.3(NFKBIA):c.688C>G (p.Pro230Ala)	NFKBIA (P230A)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2731297	NM_020529.3(NFKBIA):c.685A>G (p.Asn229Asp)	NFKBIA (N229D)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 839804	NM_020529.3(NFKBIA):c.682C>G (p.Gln228Glu)	NFKBIA (Q228E)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2707903	NM_020529.3(NFKBIA):c.672A>C (p.Ala224=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 1587338	NM_020529.3(NFKBIA):c.669C>T (p.Leu223=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2894894	NM_020529.3(NFKBIA):c.660C>T (p.Ala220=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2876029	NM_020529.3(NFKBIA):c.653G>A (p.Arg218Gln)	NFKBIA (R218Q)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2163225	NM_020529.3(NFKBIA):c.637-14C>T	NFKBIA	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 1607842	NM_020529.3(NFKBIA):c.636+20G>A	NFKBIA	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 1547178	NM_020529.3(NFKBIA):c.636+19C>T	NFKBIA	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign

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