ClinVar for Gene (Select 57379) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244290	NC_000012.11:g.(?_8765336)_(8765363_?)del	AICDA	Deletion	Hyper-IgM syndrome type 2	GPathogenic
Select item 3244289	NC_000012.11:g.(?_8756880)_(8765363_?)del	AICDA	Deletion	Hyper-IgM syndrome type 2	GPathogenic
Select item 3244256	NC_000012.11:g.(?_7053285)_(9027607_?)del	A2ML1, ACSM4 +35 more	Deletion	Peroxisome biogenesis disorder 2B +1 more	GPathogenic
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
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 3022335	NM_020661.4(AICDA):c.402G>A (p.Val134=)	AICDA	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 3011507	NM_020661.4(AICDA):c.231C>T (p.Arg77=)	AICDA	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 3006881	NM_020661.4(AICDA):c.284C>G (p.Ala95Gly)	AICDA (A95G)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 2978098	NM_020661.4(AICDA):c.407T>C (p.Ile136Thr)	AICDA (I136T)	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 2965534	NM_020661.4(AICDA):c.370G>A (p.Glu124Lys)	AICDA (E124K)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 2965235	NM_020661.4(AICDA):c.356G>A (p.Arg119His)	AICDA (R119H)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 2896207	NM_020661.4(AICDA):c.333G>A (p.Ala111=)	AICDA	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 2890976	NM_020661.4(AICDA):c.157-11T>C	AICDA	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 2890255	NM_020661.4(AICDA):c.157-5T>C	AICDA	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 2889705	NM_020661.4(AICDA):c.427+19C>T	AICDA	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 2888833	NM_020661.4(AICDA):c.348T>C (p.Cys116=)	AICDA	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 2876383	NM_020661.4(AICDA):c.422T>A (p.Phe141Tyr)	AICDA (F141Y)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 2868453	NM_020661.4(AICDA):c.283G>A (p.Ala95Thr)	AICDA (A95T)	Single nucleotide variant (missense variant)	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 2857650	NM_020661.4(AICDA):c.379C>T (p.Arg127Trp)	AICDA (R127W)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 2853999	NM_020661.4(AICDA):c.400G>A (p.Val134Met)	AICDA (V134M)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 2833047	NM_020661.4(AICDA):c.8+1G>C	AICDA	Single nucleotide variant (splice donor variant)	Hyper-IgM syndrome type 2	GLikely pathogenic
Select item 2827868	NM_020661.4(AICDA):c.427+11G>A	AICDA	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 2822520	NM_020661.4(AICDA):c.398G>T (p.Gly133Val)	AICDA (G133V)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 2817550	NM_020661.4(AICDA):c.81C>T (p.Thr27=)	AICDA	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 2800320	NM_020661.4(AICDA):c.220C>T (p.Arg74Cys)	AICDA (R74C)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 2795353	NM_020661.4(AICDA):c.168C>T (p.His56=)	AICDA	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 2794199	NM_020661.4(AICDA):c.258C>G (p.Pro86=)	AICDA	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 2	GLikely benign
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 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 2753095	NM_020661.4(AICDA):c.259T>G (p.Cys87Gly)	AICDA (C87G)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
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 2725225	NM_020661.4(AICDA):c.73C>T (p.Arg25Cys)	AICDA (R25C)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 2723917	NM_020661.4(AICDA):c.8+19C>T	AICDA	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 2707506	NM_020661.4(AICDA):c.289T>C (p.Phe97Leu)	AICDA (F97L)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 2692185	NM_020661.4(AICDA):c.218G>A (p.Gly73Asp)	AICDA (G73D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2691321	NM_020661.4(AICDA):c.295C>T (p.Arg99Ter)	AICDA (R99*)	Single nucleotide variant (nonsense)	Hyper-IgM syndrome type 2	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2600726	NM_020661.4(AICDA):c.383G>T (p.Arg128Leu)	AICDA (R128L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2415843	NM_020661.4(AICDA):c.274C>A (p.Arg92=)	AICDA	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 2291226	NM_020661.4(AICDA):c.13T>A (p.Leu5Met)	AICDA (L5M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2187733	NM_020661.4(AICDA):c.352G>A (p.Asp118Asn)	AICDA (D118N)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 2148505	NM_020661.4(AICDA):c.428-18_428-17insCTT	AICDA	Insertion (intron variant)	Hyper-IgM syndrome type 2	GLikely benign
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 2138818	NM_020661.4(AICDA):c.375G>T (p.Gly125=)	AICDA	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 2137297	NM_020661.4(AICDA):c.93C>A (p.Tyr31Ter)	AICDA (Y31*)	Single nucleotide variant (nonsense)	Hyper-IgM syndrome type 2	GPathogenic
Select item 2137296	NM_020661.4(AICDA):c.293T>G (p.Leu98Arg)	AICDA (L98R)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GLikely pathogenic
Select item 2130930	NM_020661.4(AICDA):c.9-9C>T	AICDA	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 2130657	NM_020661.4(AICDA):c.271G>A (p.Ala91Thr)	AICDA (A91T)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 2124697	NM_020661.4(AICDA):c.201C>A (p.Asp67Glu)	AICDA (D67E)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 2111021	NM_020661.4(AICDA):c.27G>A (p.Arg9=)	AICDA	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 2	GLikely benign
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 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 2074417	NM_020661.4(AICDA):c.178C>T (p.Leu60Phe)	AICDA (L60F)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 2063934	NM_020661.4(AICDA):c.128C>T (p.Ser43Leu)	AICDA (S43L)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 2063930	NM_020661.4(AICDA):c.133G>A (p.Asp45Asn)	AICDA (D45N)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 2047339	NM_020661.4(AICDA):c.232G>C (p.Val78Leu)	AICDA (V78L)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 2033022	NM_020661.4(AICDA):c.135C>T (p.Asp45=)	AICDA	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 2027489	NM_020661.4(AICDA):c.8+12G>T	AICDA	Single nucleotide variant (intron variant)	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 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 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 1981464	NM_020661.4(AICDA):c.94G>A (p.Val32Ile)	AICDA (V32I)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 1980838	NM_020661.4(AICDA):c.157-19G>A	AICDA	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 1966509	NM_020661.4(AICDA):c.175T>C (p.Leu59=)	AICDA	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 1965369	NM_020661.4(AICDA):c.9-13_9-11del	AICDA	Microsatellite (intron variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 1964411	NM_020661.4(AICDA):c.329C>T (p.Thr110Ile)	AICDA (T110I)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 1940023	NM_020661.4(AICDA):c.75T>C (p.Arg25=)	AICDA	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 1931360	NM_020661.4(AICDA):c.427+1G>A	AICDA	Single nucleotide variant (splice donor variant)	Hyper-IgM syndrome type 2	GLikely pathogenic
Select item 1721761	NM_020661.4(AICDA):c.181T>C (p.Phe61Leu)	AICDA (F61L)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 1714430	NM_020661.4(AICDA):c.406A>G (p.Ile136Val)	AICDA (I136V)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 1683705	NM_020661.4(AICDA):c.45C>G (p.Phe15Leu)	AICDA (F15L)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GLikely pathogenic
Select item 1683704	NM_020661.4(AICDA):c.403C>T (p.Gln135Ter)	AICDA (Q135*)	Single nucleotide variant (nonsense)	Hyper-IgM syndrome type 2	GPathogenic/Likely pathogenic
Select item 1675166	NM_020661.4(AICDA):c.281T>C (p.Val94Ala)	AICDA (V94A)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 1666461	NM_020661.4(AICDA):c.428-10_428-5del	AICDA	Deletion (intron variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 1663820	NM_020661.4(AICDA):c.156+15C>T	AICDA	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 1659984	NM_020661.4(AICDA):c.15G>A (p.Leu5=)	AICDA	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 1647052	NM_020661.4(AICDA):c.428-19C>T	AICDA	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 1646800	NM_020661.4(AICDA):c.8+20G>C	AICDA	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 1616751	NM_020661.4(AICDA):c.13T>C (p.Leu5=)	AICDA	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 1609624	NM_020661.4(AICDA):c.157-18T>C	AICDA	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 2	GLikely benign
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 1598529	NM_020661.4(AICDA):c.156+11A>C	AICDA	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 2	GLikely benign
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 1592444	NM_020661.4(AICDA):c.399G>C (p.Gly133=)	AICDA	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 1586672	NM_020661.4(AICDA):c.428-18_428-17insCT	AICDA	Insertion (intron variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 1558225	NM_020661.4(AICDA):c.428-18dup	AICDA	Duplication (intron variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 1549384	NM_020661.4(AICDA):c.428-9_428-8insTC	AICDA	Insertion (intron variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 1544912	NM_020661.4(AICDA):c.8+14C>T	AICDA	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 1539283	NM_020661.4(AICDA):c.150C>A (p.Arg50=)	AICDA	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 2	GLikely benign
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1497983	NM_020661.4(AICDA):c.257C>T (p.Pro86Leu)	AICDA (P86L)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 1497869	NM_020661.4(AICDA):c.110_115del (p.Asp37_Ser38del)	AICDA	Deletion (inframe_deletion)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 1497264	NM_020661.4(AICDA):c.43T>C (p.Phe15Leu)	AICDA (F15L)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance
Select item 1495491	NM_020661.4(AICDA):c.82T>C (p.Tyr28His)	AICDA (Y28H)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 2	GUncertain significance

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