ClinVar for Gene (Select 101927256) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341070	NM_032415.7(CARD11):c.358+1_358+9delinsAACATC	CARD11, CARD11-AS1	Indel (splice donor variant)	Immunodeficiency 11b with atopic dermatitis	GLikely pathogenic
Select item 3137297	NM_032415.7(CARD11):c.403G>T (p.Val135Phe)	CARD11, CARD11-AS1 (V135F)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2952836	NM_032415.7(CARD11):c.681C>G (p.Leu227=)	CARD11, CARD11-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	BENTA disease +1 more	GLikely benign
Select item 2950873	NM_032415.7(CARD11):c.261C>T (p.Gly87=)	CARD11, CARD11-AS1	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2949930	NM_032415.7(CARD11):c.359-1G>A	CARD11, CARD11-AS1	Single nucleotide variant (splice acceptor variant)	BENTA disease +1 more	GLikely pathogenic
Select item 2948727	NM_032415.7(CARD11):c.359-20T>G	CARD11, CARD11-AS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 2947338	NM_032415.7(CARD11):c.528C>G (p.Phe176Leu)	CARD11-AS1, CARD11 (F176L)	Single nucleotide variant (non-coding transcript variant +1 more)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 2945311	NM_032415.7(CARD11):c.489G>C (p.Lys163Asn)	CARD11, CARD11-AS1 (K163N)	Single nucleotide variant (non-coding transcript variant +1 more)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 2942509	NM_032415.7(CARD11):c.252G>A (p.Gly84=)	CARD11, CARD11-AS1	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 2941963	NM_032415.7(CARD11):c.575A>G (p.Asp192Gly)	CARD11, CARD11-AS1 (D192G)	Single nucleotide variant (non-coding transcript variant +1 more)	BENTA disease +1 more	GUncertain significance
Select item 2940487	NM_032415.7(CARD11):c.365A>T (p.Glu122Val)	CARD11, CARD11-AS1 (E122V)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2938790	NM_032415.7(CARD11):c.612A>G (p.Leu204=)	CARD11-AS1, CARD11	Single nucleotide variant (synonymous variant +1 more)	BENTA disease +1 more	GLikely benign
Select item 2937063	NM_032415.7(CARD11):c.585C>T (p.Val195=)	CARD11, CARD11-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	BENTA disease +1 more	GLikely benign
Select item 2934976	NM_032415.7(CARD11):c.616A>T (p.Met206Leu)	CARD11, CARD11-AS1 (M206L)	Single nucleotide variant (non-coding transcript variant +1 more)	BENTA disease +1 more	GLikely benign
Select item 2934727	NM_032415.7(CARD11):c.552G>A (p.Lys184=)	CARD11, CARD11-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	BENTA disease +1 more	GLikely benign
Select item 2934698	NM_032415.7(CARD11):c.684+14A>C	CARD11, CARD11-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	BENTA disease +1 more	GLikely benign
Select item 2933123	NM_032415.7(CARD11):c.621C>G (p.Arg207=)	CARD11, CARD11-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	BENTA disease +1 more	GLikely benign
Select item 2930423	NM_032415.7(CARD11):c.375G>A (p.Glu125=)	CARD11, CARD11-AS1	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2928926	NM_032415.7(CARD11):c.240A>C (p.Leu80=)	CARD11, CARD11-AS1	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2928304	NM_032415.7(CARD11):c.559C>T (p.Arg187Trp)	CARD11, CARD11-AS1 (R187W)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 2927848	NM_032415.7(CARD11):c.560G>A (p.Arg187Gln)	CARD11, CARD11-AS1 (R187Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 2927034	NM_032415.7(CARD11):c.258G>A (p.Arg86=)	CARD11, CARD11-AS1	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2921330	NM_032415.7(CARD11):c.504G>A (p.Leu168=)	CARD11, CARD11-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2657244	NM_032415.7(CARD11):c.294T>C (p.Tyr98=)	CARD11, CARD11-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657243	NM_032415.7(CARD11):c.442C>A (p.Gln148Lys)	CARD11, CARD11-AS1 (Q148K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2428202	NM_032415.7(CARD11):c.570C>T (p.Tyr190=)	CARD11, CARD11-AS1	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2414989	NM_032415.7(CARD11):c.559C>A (p.Arg187=)	CARD11, CARD11-AS1	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2414559	NM_032415.7(CARD11):c.470G>A (p.Arg157Gln)	CARD11, CARD11-AS1 (R157Q)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 2284060	NM_032415.7(CARD11):c.668G>A (p.Arg223Gln)	CARD11, CARD11-AS1 (R223Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262243	NM_032415.7(CARD11):c.426G>A (p.Met142Ile)	CARD11, CARD11-AS1 (M142I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2182157	NM_032415.7(CARD11):c.500C>T (p.Thr167Met)	CARD11, CARD11-AS1 (T167M)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2178782	NM_032415.7(CARD11):c.507G>A (p.Thr169=)	CARD11, CARD11-AS1	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2132883	NM_032415.7(CARD11):c.230T>C (p.Leu77Ser)	CARD11, CARD11-AS1 (L77S)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2114909	NM_032415.7(CARD11):c.221G>A (p.Gly74Asp)	CARD11, CARD11-AS1 (G74D)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2105655	NM_032415.7(CARD11):c.453G>C (p.Glu151Asp)	CARD11, CARD11-AS1 (E151D)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 2088340	NM_032415.7(CARD11):c.487AAG[1] (p.Lys164del)	CARD11, CARD11-AS1 (K164del)	Microsatellite (inframe_deletion)	BENTA disease +1 more	GUncertain significance
Select item 1929392	NM_032415.7(CARD11):c.642GAA[1] (p.Lys215del)	CARD11, CARD11-AS1 (K215del)	Microsatellite (inframe_deletion)	BENTA disease +1 more	GUncertain significance
Select item 1720941	NM_032415.7(CARD11):c.247A>G (p.Lys83Glu)	CARD11, CARD11-AS1 (K83E)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 1715407	NM_032415.7(CARD11):c.465G>T (p.Arg155Ser)	CARD11, CARD11-AS1 (R155S)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 1708210	NM_032415.7(CARD11):c.286G>A (p.Glu96Lys)	CARD11, CARD11-AS1 (E96K)	Single nucleotide variant (missense variant)	Immunodeficiency 11b with atopic dermatitis	GUncertain significance
Select item 1707408	NM_032415.7(CARD11):c.349A>C (p.Thr117Pro)	CARD11, CARD11-AS1 (T117P)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 1707407	NM_032415.7(CARD11):c.547_588dup (p.Lys196_Val197insMetLysGluGluArgAspSerTyrAsnAspGluLeuValLys)	CARD11, CARD11-AS1	Duplication (inframe_insertion)	Immunodeficiency 11b with atopic dermatitis	GPathogenic
Select item 1702739	NM_032415.7(CARD11):c.500C>A (p.Thr167Lys)	CARD11, CARD11-AS1 (T167K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676055	NM_032415.7(CARD11):c.268G>T (p.Val90Phe)	CARD11, CARD11-AS1 (V90F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676054	NM_032415.7(CARD11):c.458T>C (p.Leu153Pro)	CARD11, CARD11-AS1 (L153P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1660004	NM_032415.7(CARD11):c.654G>C (p.Ala218=)	CARD11, CARD11-AS1	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 1644920	NM_032415.7(CARD11):c.359-13C>T	CARD11, CARD11-AS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 1639541	NM_032415.7(CARD11):c.221-13G>A	CARD11, CARD11-AS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 1637732	NM_032415.7(CARD11):c.359-11C>T	CARD11, CARD11-AS1	Single nucleotide variant (intron variant)	BENTA disease +1 more	GLikely benign
Select item 1603482	NM_032415.7(CARD11):c.399C>T (p.Asn133=)	CARD11, CARD11-AS1	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 1591478	NM_032415.7(CARD11):c.522A>G (p.Leu174=)	CARD11, CARD11-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1546588	NM_032415.7(CARD11):c.654G>A (p.Ala218=)	CARD11, CARD11-AS1	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 1537652	NM_032415.7(CARD11):c.414G>T (p.Leu138=)	CARD11-AS1, CARD11	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 1492783	NM_032415.7(CARD11):c.447C>G (p.Arg149=)	CARD11, CARD11-AS1	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 1480524	NM_032415.7(CARD11):c.383C>T (p.Thr128Met)	CARD11, CARD11-AS1 (T128M)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 1447054	NM_032415.7(CARD11):c.377G>C (p.Gly126Ala)	CARD11, CARD11-AS1 (G126A)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 1434628	NM_032415.7(CARD11):c.634A>G (p.Ser212Gly)	CARD11, CARD11-AS1 (S212G)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 1368515	NM_032415.7(CARD11):c.645G>C (p.Lys215Asn)	CARD11, CARD11-AS1 (K215N)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 1354248	NM_032415.7(CARD11):c.647A>T (p.Asn216Ile)	CARD11, CARD11-AS1 (N216I)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 1184835	NM_032415.7(CARD11):c.358+1G>A	CARD11, CARD11-AS1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1174515	NM_032415.7(CARD11):c.377G>A (p.Gly126Asp)	CARD11, CARD11-AS1 (G126D)	Single nucleotide variant (missense variant)	BENTA disease +2 more	GLikely pathogenic
Select item 1168886	NM_032415.7(CARD11):c.358+17T>C	CARD11, CARD11-AS1	Single nucleotide variant (intron variant)	BENTA disease +1 more	GBenign
Select item 1146892	NM_032415.7(CARD11):c.439C>T (p.Leu147=)	CARD11, CARD11-AS1	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 1136478	NM_032415.7(CARD11):c.576C>T (p.Asp192=)	CARD11, CARD11-AS1	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 1123905	NM_032415.7(CARD11):c.315G>T (p.Leu105=)	CARD11, CARD11-AS1	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 1118209	NM_032415.7(CARD11):c.358+7G>A	CARD11, CARD11-AS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 1117045	NM_032415.7(CARD11):c.606C>T (p.Tyr202=)	CARD11, CARD11-AS1	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 1108169	NM_032415.7(CARD11):c.666C>T (p.Ser222=)	CARD11, CARD11-AS1	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 1097196	NM_032415.7(CARD11):c.510C>T (p.Arg170=)	CARD11, CARD11-AS1	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 1068965	NM_032415.7(CARD11):c.676C>T (p.Gln226Ter)	CARD11, CARD11-AS1 (Q226*)	Single nucleotide variant (nonsense)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GPathogenic
Select item 1063627	NM_032415.7(CARD11):c.223C>T (p.Arg75Trp)	CARD11, CARD11-AS1 (R75W)	Single nucleotide variant (missense variant)	Immunodeficiency 11b with atopic dermatitis +2 more	GConflicting classifications of pathogenicity
Select item 1046717	NM_032415.7(CARD11):c.305T>G (p.Leu102Arg)	CARD11, CARD11-AS1 (L102R)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 1016705	NM_032415.7(CARD11):c.511G>A (p.Val171Met)	CARD11, CARD11-AS1 (V171M)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +2 more	GLikely benign
Select item 957780	NM_032415.7(CARD11):c.583G>C (p.Val195Leu)	CARD11, CARD11-AS1 (V195L)	Single nucleotide variant (missense variant)	BENTA disease +2 more	GConflicting classifications of pathogenicity
Select item 934897	NM_032415.7(CARD11):c.416A>G (p.Gln139Arg)	CARD11, CARD11-AS1 (Q139R)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 871388	NM_032415.7(CARD11):c.239T>C (p.Leu80Pro)	CARD11, CARD11-AS1 (L80P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 848144	NM_032415.7(CARD11):c.490A>C (p.Lys164Gln)	CARD11, CARD11-AS1 (K164Q)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 792978	NM_032415.7(CARD11):c.588G>A (p.Lys196=)	CARD11, CARD11-AS1	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 779709	NM_032415.7(CARD11):c.519G>A (p.Leu173=)	CARD11, CARD11-AS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 761075	NM_032415.7(CARD11):c.358+8C>T	CARD11, CARD11-AS1	Single nucleotide variant (intron variant)	BENTA disease +1 more	GLikely benign
Select item 758483	NM_032415.7(CARD11):c.221-5C>T	CARD11, CARD11-AS1	Single nucleotide variant (intron variant)	BENTA disease +1 more	GLikely benign
Select item 652938	NM_032415.7(CARD11):c.518_535del (p.Leu173_Glu178del)	CARD11, CARD11-AS1	Deletion (inframe_deletion)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 644847	NC_000007.13:g.(?_2946252)_(2998160_?)dup	CARD11, CARD11-AS1 +1 more	Duplication	BENTA disease +1 more	GUncertain significance
Select item 578452	NM_032415.7(CARD11):c.491A>C (p.Lys164Thr)	CARD11, CARD11-AS1 (K164T)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 577246	NM_032415.7(CARD11):c.427A>T (p.Lys143Ter)	CARD11, CARD11-AS1 (K143*)	Single nucleotide variant (nonsense)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 573551	NM_032415.7(CARD11):c.392T>G (p.Leu131Arg)	CARD11, CARD11-AS1 (L131R)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 473937	NM_032415.7(CARD11):c.430G>A (p.Ala144Thr)	CARD11, CARD11-AS1 (A144T)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 473936	NM_032415.7(CARD11):c.388T>A (p.Phe130Ile)	CARD11, CARD11-AS1 (F130I)	Single nucleotide variant (missense variant)	BENTA disease +2 more	GConflicting classifications of pathogenicity
Select item 473930	NM_032415.7(CARD11):c.225G>C (p.Arg75=)	CARD11, CARD11-AS1	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GBenign
Select item 422012	NM_032415.7(CARD11):c.423G>T (p.Gln141His)	CARD11, CARD11-AS1 (Q141H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421663	NM_032415.7(CARD11):c.224G>A (p.Arg75Gln)	CARD11, CARD11-AS1 (R75Q)	Single nucleotide variant (missense variant)	BENTA disease +2 more	GConflicting classifications of pathogenicity
Select item 183144	NM_032415.7(CARD11):c.368G>A (p.Gly123Asp)	CARD11-AS1, CARD11 (G123D)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GPathogenic
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 155108	GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3	ADAP1, AMZ1 +246 more	Copy number gain	See cases	GUncertain significance
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 154928	GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1	LOC126859917, LOC126859918 +245 more	Copy number loss	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 147625	GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1	ADAP1, AMZ1 +246 more	Copy number loss	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic

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