CARD11[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	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 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
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
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 644847	NC_000007.13:g.(?_2946252)_(2998160_?)dup	CARD11, CARD11-AS1 +1 more	Duplication	BENTA disease +1 more	GUncertain significance
Select item 1034139	NM_032415.7(CARD11):c.*4G>A	CARD11	Single nucleotide variant (3 prime UTR variant)	BENTA disease	GUncertain significance
Select item 133803	NM_032415.7(CARD11):c.3454G>A (p.Asp1152Asn)	CARD11 (D1152N)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +2 more	GLikely benign
Select item 2930230	NM_032415.7(CARD11):c.3450C>T (p.Asp1150=)	CARD11	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 1358916	NM_032415.7(CARD11):c.3439A>C (p.Ile1147Leu)	CARD11 (I1147L)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2936411	NM_032415.7(CARD11):c.3432C>T (p.Arg1144=)	CARD11	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 644024	NM_032415.7(CARD11):c.3431G>A (p.Arg1144His)	CARD11 (R1144H)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GLikely benign
Select item 1608444	NM_032415.7(CARD11):c.3423G>A (p.Glu1141=)	CARD11	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2940191	NM_032415.7(CARD11):c.3421G>A (p.Glu1141Lys)	CARD11 (E1141K)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 1406654	NM_032415.7(CARD11):c.3420C>T (p.Gly1140=)	CARD11	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2057775	NM_032415.7(CARD11):c.3418G>A (p.Gly1140Ser)	CARD11 (G1140S)	Single nucleotide variant (missense variant)	BENTA disease +2 more	GConflicting classifications of pathogenicity
Select item 760521	NM_032415.7(CARD11):c.3417C>T (p.Ile1139=)	CARD11	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 858217	NM_032415.7(CARD11):c.3410A>T (p.Asp1137Val)	CARD11 (D1137V)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GConflicting classifications of pathogenicity
Select item 1529818	NM_032415.7(CARD11):c.3402T>A (p.Val1134=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 661119	NM_032415.7(CARD11):c.3400G>A (p.Val1134Ile)	CARD11 (V1134I)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 2009198	NM_032415.7(CARD11):c.3399C>A (p.Arg1133=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 473935	NM_032415.7(CARD11):c.3399C>T (p.Arg1133=)	CARD11	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GBenign
Select item 657094	NM_032415.7(CARD11):c.3398G>A (p.Arg1133His)	CARD11 (R1133H)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 773887	NM_032415.7(CARD11):c.3396C>T (p.Leu1132=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GBenign
Select item 2032376	NM_032415.7(CARD11):c.3390G>A (p.Glu1130=)	CARD11	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2947143	NM_032415.7(CARD11):c.3388G>A (p.Glu1130Lys)	CARD11 (E1130K)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 935604	NM_032415.7(CARD11):c.3382G>A (p.Val1128Ile)	CARD11 (V1128I)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2953542	NM_032415.7(CARD11):c.3380G>A (p.Ser1127Asn)	CARD11 (S1127N)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 2615168	NM_032415.7(CARD11):c.3377G>A (p.Gly1126Asp)	CARD11 (G1126D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 966380	NM_032415.7(CARD11):c.3374G>C (p.Trp1125Ser)	CARD11 (W1125S)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 1058488	NM_032415.7(CARD11):c.3371T>C (p.Met1124Thr)	CARD11 (M1124T)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2941622	NM_032415.7(CARD11):c.3370A>G (p.Met1124Val)	CARD11 (M1124V)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2166242	NM_032415.7(CARD11):c.3369C>G (p.Asp1123Glu)	CARD11 (D1123E)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2112238	NM_032415.7(CARD11):c.3369C>A (p.Asp1123Glu)	CARD11 (D1123E)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 2932183	NM_032415.7(CARD11):c.3367G>A (p.Asp1123Asn)	CARD11 (D1123N)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 961647	NM_032415.7(CARD11):c.3357G>A (p.Thr1119=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 1509584	NM_032415.7(CARD11):c.3355A>G (p.Thr1119Ala)	CARD11 (T1119A)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 2924866	NM_032415.7(CARD11):c.3353C>A (p.Ala1118Asp)	CARD11 (A1118D)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2069613	NM_032415.7(CARD11):c.3351C>T (p.Tyr1117=)	CARD11	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 1998432	NM_032415.7(CARD11):c.3348G>A (p.Leu1116=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 963991	NM_032415.7(CARD11):c.3344G>A (p.Cys1115Tyr)	CARD11 (C1115Y)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 1128800	NM_032415.7(CARD11):c.3342G>A (p.Pro1114=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 1124620	NM_032415.7(CARD11):c.3342G>C (p.Pro1114=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 1557576	NM_032415.7(CARD11):c.3330G>A (p.Leu1110=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 1426875	NM_032415.7(CARD11):c.3321G>A (p.Glu1107=)	CARD11	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 1008343	NM_032415.7(CARD11):c.3319_3321del (p.Glu1107del)	CARD11 (E1107del)	Deletion (inframe_deletion)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 1106976	NM_032415.7(CARD11):c.3318G>A (p.Lys1106=)	CARD11	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 1665091	NM_032415.7(CARD11):c.3313C>T (p.Leu1105=)	CARD11	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 1084346	NM_032415.7(CARD11):c.3309C>T (p.Cys1103=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 2663121	NM_032415.7(CARD11):c.3308G>A (p.Cys1103Tyr)	CARD11 (C1103Y)	Single nucleotide variant (missense variant)	BENTA disease +2 more	GUncertain significance
Select item 2092779	NM_032415.7(CARD11):c.3303C>G (p.Arg1101=)	CARD11	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 540971	NM_032415.7(CARD11):c.3303C>T (p.Arg1101=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +2 more	GConflicting classifications of pathogenicity
Select item 1409029	NM_032415.7(CARD11):c.3302G>A (p.Arg1101His)	CARD11 (R1101H)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 2421563	NM_032415.7(CARD11):c.3295T>A (p.Phe1099Ile)	CARD11 (F1099I)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 2071369	NM_032415.7(CARD11):c.3286GAG[2] (p.Glu1098del)	CARD11 (E1098del)	Microsatellite (inframe_deletion)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 2154751	NM_032415.7(CARD11):c.3285G>A (p.Thr1095=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 2395814	NM_032415.7(CARD11):c.3277C>T (p.Pro1093Ser)	CARD11 (P1093S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2049988	NM_032415.7(CARD11):c.3276_3277inv (p.Pro1093Ser)	CARD11 (P1093S)	Inversion (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 402477	NM_032415.7(CARD11):c.3276A>G (p.Arg1092=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +3 more	GBenign
Select item 2934006	NM_032415.7(CARD11):c.3274C>T (p.Arg1092Ter)	CARD11 (R1092*)	Single nucleotide variant (nonsense)	BENTA disease +1 more	GUncertain significance
Select item 3137296	NM_032415.7(CARD11):c.3272C>T (p.Pro1091Leu)	CARD11 (P1091L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2038840	NM_032415.7(CARD11):c.3270G>A (p.Leu1090=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 2925280	NM_032415.7(CARD11):c.3268C>G (p.Leu1090Val)	CARD11 (L1090V)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 2953987	NM_032415.7(CARD11):c.3261-4C>T	CARD11	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 1461239	NM_032415.7(CARD11):c.3261-5C>G	CARD11	Single nucleotide variant (intron variant)	BENTA disease +1 more	GLikely benign
Select item 1587741	NM_032415.7(CARD11):c.3261-12G>C	CARD11	Single nucleotide variant (intron variant)	BENTA disease +1 more	GLikely benign
Select item 1603108	NM_032415.7(CARD11):c.3261-14G>C	CARD11	Single nucleotide variant (intron variant)	BENTA disease +1 more	GLikely benign
Select item 1563268	NM_032415.7(CARD11):c.3261-14G>A	CARD11	Single nucleotide variant (intron variant)	BENTA disease +1 more	GLikely benign
Select item 2201134	NM_032415.7(CARD11):c.3261-15C>T	CARD11	Single nucleotide variant (intron variant)	BENTA disease +1 more	GLikely benign
Select item 2628297	NM_032415.7(CARD11):c.3261-76G>T	CARD11	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1657548	NM_032415.7(CARD11):c.3260+16C>A	CARD11	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 2133361	NM_032415.7(CARD11):c.3260+14A>C	CARD11	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 1666885	NM_032415.7(CARD11):c.3260+14A>G	CARD11	Single nucleotide variant (intron variant)	BENTA disease +1 more	GLikely benign
Select item 1556551	NM_032415.7(CARD11):c.3260+13G>C	CARD11	Single nucleotide variant (intron variant)	BENTA disease +1 more	GLikely benign
Select item 636345	NM_032415.7(CARD11):c.3260+11C>G	CARD11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1647809	NM_032415.7(CARD11):c.3260+7C>T	CARD11	Single nucleotide variant (intron variant)	BENTA disease +1 more	GLikely benign
Select item 575225	NM_032415.7(CARD11):c.3260+5G>A	CARD11	Single nucleotide variant (intron variant)	BENTA disease +1 more	GUncertain significance
Select item 2939818	NM_032415.7(CARD11):c.3260+4G>C	CARD11	Single nucleotide variant (intron variant)	BENTA disease +1 more	GUncertain significance
Select item 2175384	NM_032415.7(CARD11):c.3260+3A>G	CARD11	Single nucleotide variant (intron variant)	BENTA disease +1 more	GUncertain significance
Select item 2952967	NM_032415.7(CARD11):c.3251A>G (p.Lys1084Arg)	CARD11 (K1084R)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 2932673	NM_032415.7(CARD11):c.3230G>A (p.Arg1077Gln)	CARD11 (R1077Q)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 1018002	NM_032415.7(CARD11):c.3226A>C (p.Ile1076Leu)	CARD11 (I1076L)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 2147969	NM_032415.7(CARD11):c.3216C>T (p.Ile1072=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 1361943	NM_032415.7(CARD11):c.3213dup (p.Ile1072fs)	CARD11 (I1072fs)	Duplication (frameshift variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 1374427	NM_032415.7(CARD11):c.3213del (p.Ile1072fs)	CARD11 (I1072fs)	Deletion (frameshift variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 1083357	NM_032415.7(CARD11):c.3213C>A (p.Pro1071=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 658944	NM_032415.7(CARD11):c.3205A>G (p.Ile1069Val)	CARD11 (I1069V)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance
Select item 1649998	NM_032415.7(CARD11):c.3204C>T (p.Asn1068=)	CARD11	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 1094286	NM_032415.7(CARD11):c.3201C>T (p.Ser1067=)	CARD11	Single nucleotide variant (synonymous variant)	BENTA disease +1 more	GLikely benign
Select item 959533	NM_032415.7(CARD11):c.3198G>C (p.Lys1066Asn)	CARD11 (K1066N)	Single nucleotide variant (missense variant)	BENTA disease +1 more	GUncertain significance
Select item 1515903	NM_032415.7(CARD11):c.3175G>C (p.Gly1059Arg)	CARD11 (G1059R)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance

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