AICDA[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 152638	GRCh38/hg38 12p13.31(chr12:8455575-8623334)x1	AICDA, CLEC4D +3 more	Copy number loss	See cases	GLikely benign
Select item 127036	NM_020661.4(AICDA):c.*1934C>T	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 881009	NM_020661.4(AICDA):c.*1802T>C	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 881010	NM_020661.4(AICDA):c.*1704C>T	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 310548	NM_020661.4(AICDA):c.*1694A>G	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2 +1 more	GBenign
Select item 881011	NM_020661.4(AICDA):c.*1684T>C	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 310549	NM_020661.4(AICDA):c.*1666G>T	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2 +1 more	GBenign
Select item 310550	NM_020661.4(AICDA):c.*1662C>A	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 881012	NM_020661.4(AICDA):c.*1455G>A	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 310551	NM_020661.4(AICDA):c.1453_1454insG	AICDA	Insertion (3 prime UTR variant)	Hyperimmunoglobulin M syndrome	GUncertain significance
Select item 882366	NM_020661.4(AICDA):c.*1453A>G	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 882367	NM_020661.4(AICDA):c.*1380A>G	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 882368	NM_020661.4(AICDA):c.*1313G>C	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 310552	NM_020661.4(AICDA):c.*1297G>A	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2 +1 more	GBenign
Select item 882369	NM_020661.4(AICDA):c.*1296C>T	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 310553	NM_020661.4(AICDA):c.*1262C>T	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 882370	NM_020661.4(AICDA):c.*1226A>C	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 310554	NM_020661.4(AICDA):c.*1213A>G	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 310555	NM_020661.4(AICDA):c.*1206C>T	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2 +1 more	GBenign
Select item 310556	NM_020661.4(AICDA):c.*1173C>T	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 310557	NM_020661.4(AICDA):c.*1139A>G	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 882638	NM_020661.4(AICDA):c.*1138A>G	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 310558	NM_020661.4(AICDA):c.*1137A>G	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 310559	NM_020661.4(AICDA):c.*1136A>G	AICDA	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 310560	NM_020661.4(AICDA):c.*1106A>G	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 310561	NM_020661.4(AICDA):c.*1089C>T	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GBenign
Select item 310562	NM_020661.4(AICDA):c.*1083T>C	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 310563	NM_020661.4(AICDA):c.*1028C>T	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2 +1 more	GBenign
Select item 883411	NM_020661.4(AICDA):c.*1025G>A	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 883412	NM_020661.4(AICDA):c.*1010C>T	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 310564	NM_020661.4(AICDA):c.*958A>G	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 310565	NM_020661.4(AICDA):c.*837A>G	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 310566	NM_020661.4(AICDA):c.*804A>T	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 883413	NM_020661.4(AICDA):c.*771T>A	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 310567	NM_020661.4(AICDA):c.*718C>A	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GBenign
Select item 310568	NM_020661.4(AICDA):c.*670A>T	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 310569	NM_020661.4(AICDA):c.*625T>C	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 310570	NM_020661.4(AICDA):c.*556T>G	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 310571	NM_020661.4(AICDA):c.*554T>C	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 881056	NM_020661.4(AICDA):c.*470C>G	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 127037	NM_020661.4(AICDA):c.*446G>A	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 310572	NM_020661.4(AICDA):c.*309T>C	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2 +1 more	GBenign
Select item 310573	NM_020661.4(AICDA):c.*288C>T	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 310574	NM_020661.4(AICDA):c.*235C>G	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 310575	NM_020661.4(AICDA):c.*89A>C	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2 +2 more	GBenign
Select item 310576	NM_020661.4(AICDA):c.*67C>T	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 881517	NM_020661.4(AICDA):c.*38T>C	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GBenign
Select item 881516	NM_020661.4(AICDA):c.*38T>G	AICDA	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 657907	NC_000012.12:g.(?_8604264)_(8612787_?)del	AICDA	Deletion	Hyper-IgM syndrome type 2	GPathogenic
Select item 2096713	NM_020661.4(AICDA):c.595T>A (p.Ter199Arg)	AICDA	Single nucleotide variant (stop lost)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 496448	NM_020661.4(AICDA):c.585T>C (p.Thr195=)	AICDA	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 2 +1 more	GBenign
Select item 1609277	NM_020661.4(AICDA):c.576A>C (p.Ala192=)	AICDA	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 1490535	NM_020661.4(AICDA):c.574G>A (p.Ala192Thr)	AICDA (A192T +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 2972667	NM_020661.4(AICDA):c.573C>T (p.Asp191=)	AICDA	Single nucleotide variant (synonymous variant +1 more)	Hyper-IgM syndrome type 2	GLikely benign
Select item 2013043	NM_020661.4(AICDA):c.572A>T (p.Asp191Val)	AICDA (D191V +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 881518	NM_020661.4(AICDA):c.569G>A (p.Arg190Gln)	AICDA (R190Q +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 871278	NM_020661.4(AICDA):c.568C>G (p.Arg190Gly)	AICDA (R190G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 806827	NM_020661.4(AICDA):c.568C>T (p.Arg190Ter)	AICDA (R180* +1 more)	Single nucleotide variant (nonsense)	Hyper-IgM syndrome type 2 +1 more	GPathogenic/Likely pathogenic
Select item 2731348	NM_020661.4(AICDA):c.566T>G (p.Leu189Ter)	AICDA (L179* +1 more)	Single nucleotide variant (nonsense +1 more)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 579775	NM_020661.4(AICDA):c.557T>C (p.Val186Ala)	AICDA (V186A +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 956811	NM_020661.4(AICDA):c.554A>C (p.Glu185Ala)	AICDA (E175A +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 648538	NM_020661.4(AICDA):c.552T>A (p.Tyr184Ter)	AICDA (Y174* +1 more)	Single nucleotide variant (nonsense)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 1129894	NM_020661.4(AICDA):c.549G>T (p.Leu183=)	AICDA	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 1473761	NM_020661.4(AICDA):c.544-2A>G	AICDA	Single nucleotide variant (splice acceptor variant)	Hyper-IgM syndrome type 2	GLikely pathogenic
Select item 1000841	NM_020661.4(AICDA):c.544-3C>T	AICDA	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 2783644	NM_020661.4(AICDA):c.544-4A>G	AICDA	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 1321702	NM_020661.4(AICDA):c.544-160dup	AICDA	Duplication (intron variant)	not provided	GLikely benign
Select item 1274191	NM_020661.4(AICDA):c.544-161_544-160del	AICDA	Deletion (intron variant)	not provided	GBenign
Select item 1268310	NM_020661.4(AICDA):c.544-164_544-160del	AICDA	Deletion (intron variant)	not provided	GBenign
Select item 1249463	NM_020661.4(AICDA):c.544-160del	AICDA	Deletion (intron variant)	not provided	GBenign
Select item 1291854	NM_020661.4(AICDA):c.543+110T>G	AICDA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 567318	NM_020661.4(AICDA):c.533G>C (p.Arg178Pro)	AICDA (R178P +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 1983875	NM_020661.4(AICDA):c.517T>G (p.Ser173Ala)	AICDA (S163A +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 2140968	NM_020661.4(AICDA):c.511C>T (p.Arg171Cys)	AICDA (R161C +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 2086872	NM_020661.4(AICDA):c.511C>G (p.Arg171Gly)	AICDA (R161G +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 2782284	NM_020661.4(AICDA):c.496C>T (p.His166Tyr)	AICDA (H166Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 1119087	NM_020661.4(AICDA):c.483C>T (p.Ala161=)	AICDA	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 1998859	NM_020661.4(AICDA):c.470G>T (p.Arg157Ile)	AICDA (R157I +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 1596058	NM_020661.4(AICDA):c.468A>G (p.Glu156=)	AICDA	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 3024058	NM_020661.4(AICDA):c.465C>A (p.His155Gln)	AICDA (H155Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 2860513	NM_020661.4(AICDA):c.464_465inv (p.His155Arg)	AICDA (H155R +1 more)	Inversion (missense variant +1 more)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 261353	NM_020661.4(AICDA):c.465C>T (p.His155=)	AICDA	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1402468	NM_020661.4(AICDA):c.457G>C (p.Glu153Gln)	AICDA (E153Q)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GUncertain significance
Select item 1146427	NM_020661.4(AICDA):c.456A>G (p.Val152=)	AICDA	Single nucleotide variant (synonymous variant +2 more)	Hyper-IgM syndrome type 2	GLikely benign
Select item 5128	NM_020661.4(AICDA):c.452T>C (p.Phe151Ser)	AICDA (F151S)	Single nucleotide variant (intron variant +1 more)	Hyper-IgM syndrome type 2	GPathogenic
Select item 5127	NM_020661.4(AICDA):c.441C>A (p.Cys147Ter)	AICDA (C147*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 841691	NM_020661.4(AICDA):c.428A>T (p.Asp143Val)	AICDA (D143V)	Single nucleotide variant (missense variant +1 more)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 806828	NM_020661.4(AICDA):c.428-1G>T	AICDA	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 310577	NM_020661.4(AICDA):c.428-4_428-3insT	AICDA	Insertion (intron variant)	Hyperimmunoglobulin M syndrome	GUncertain significance

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