FADD[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153941	GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1	ACTE1P, ANO1 +184 more	Copy number loss	See cases	GLikely pathogenic
Select item 1294696	NC_000011.10:g.70203147T>C	FADD	Single nucleotide variant	not provided	GBenign
Select item 1294741	NC_000011.10:g.70203190G>A	FADD	Single nucleotide variant	not provided	GBenign
Select item 1174392	NM_003824.4(FADD):c.-43A>G	FADD	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 1141637	NM_003824.4(FADD):c.6C>T (p.Asp2=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 1047817	NM_003824.4(FADD):c.8C>G (p.Pro3Arg)	FADD (P3R)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 2768183	NM_003824.4(FADD):c.9G>A (p.Pro3=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 713705	NM_003824.4(FADD):c.9G>T (p.Pro3=)	FADD	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1657904	NM_003824.4(FADD):c.21G>C (p.Leu7=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 2741662	NM_003824.4(FADD):c.30G>T (p.Ser10=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 579410	NM_003824.4(FADD):c.31G>A (p.Val11Met)	FADD (V11M)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 242497	NM_003824.4(FADD):c.52_58del (p.Ser17_Ser18insTer)	FADD	Deletion (nonsense)	FADD-related immunodeficiency	GPathogenic
Select item 2990201	NM_003824.4(FADD):c.48G>A (p.Ser16=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 953850	NM_003824.4(FADD):c.51C>G (p.Ser17Arg)	FADD (S17R)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 1361202	NM_003824.4(FADD):c.52A>G (p.Ser18Gly)	FADD (S18G)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 935209	NM_003824.4(FADD):c.52A>C (p.Ser18Arg)	FADD (S18R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2883286	NM_003824.4(FADD):c.66G>A (p.Glu22=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 1569873	NM_003824.4(FADD):c.72G>A (p.Lys24=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 2777962	NM_003824.4(FADD):c.76C>T (p.Leu26=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 1109196	NM_003824.4(FADD):c.78A>G (p.Leu26=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 1141343	NM_003824.4(FADD):c.81C>T (p.Cys27=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 1956724	NM_003824.4(FADD):c.87G>A (p.Gly29=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 1063379	NM_003824.4(FADD):c.89G>C (p.Arg30Pro)	FADD (R30P)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 471687	NM_003824.4(FADD):c.93G>T (p.Val31=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GBenign
Select item 1940096	NM_003824.4(FADD):c.109G>A (p.Glu37Lys)	FADD (E37K)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 742721	NM_003824.4(FADD):c.111G>A (p.Glu37=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 3020541	NM_003824.4(FADD):c.123C>T (p.Ser41=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 2891879	NM_003824.4(FADD):c.132C>T (p.Asp44=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 2816868	NM_003824.4(FADD):c.138C>T (p.Phe46=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 1968624	NM_003824.4(FADD):c.139T>A (p.Ser47Thr)	FADD (S47T)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 1007395	NM_003824.4(FADD):c.152A>G (p.Glu51Gly)	FADD (E51G)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 2874707	NM_003824.4(FADD):c.156G>A (p.Gln52=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 539062	NM_003824.4(FADD):c.168G>T (p.Glu56Asp)	FADD (E56D)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 756746	NM_003824.4(FADD):c.174G>C (p.Gly58=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 2072869	NM_003824.4(FADD):c.175C>T (p.His59Tyr)	FADD (H59Y)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 2885233	NM_003824.4(FADD):c.186C>T (p.Leu62=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 779632	NM_003824.4(FADD):c.186C>G (p.Leu62=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 1583935	NM_003824.4(FADD):c.187C>T (p.Leu63=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 2166666	NM_003824.4(FADD):c.192C>T (p.Arg64=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 1123942	NM_003824.4(FADD):c.198G>C (p.Leu66=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 2695129	NM_003824.4(FADD):c.206C>T (p.Ser69Phe)	FADD (S69F)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 2995342	NM_003824.4(FADD):c.210G>A (p.Leu70=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 1148558	NM_003824.4(FADD):c.211C>A (p.Arg71=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 2607908	NM_003824.4(FADD):c.219C>G (p.His73Gln)	FADD (H73Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1923851	NM_003824.4(FADD):c.223C>T (p.Leu75=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 2055441	NM_003824.4(FADD):c.225G>A (p.Leu75=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 1572633	NM_003824.4(FADD):c.234C>G (p.Arg78=)	FADD	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1050930	NM_003824.4(FADD):c.241G>T (p.Asp81Tyr)	FADD (D81Y)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 2999114	NM_003824.4(FADD):c.243C>T (p.Asp81=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 954644	NM_003824.4(FADD):c.248A>G (p.Glu83Gly)	FADD, LOC130006295 (E83G)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 1582435	NM_003824.4(FADD):c.258G>A (p.Ala86=)	FADD, LOC130006295	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 2202014	NM_003824.4(FADD):c.264C>A (p.Ala88=)	FADD, LOC130006295	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 2265599	NM_003824.4(FADD):c.265G>T (p.Gly89Trp)	FADD, LOC130006295 (G89W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1285114	NM_003824.4(FADD):c.276T>G (p.Pro92=)	FADD, LOC130006295	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1924615	NM_003824.4(FADD):c.283G>A (p.Glu95Lys)	FADD, LOC130006295 (E95K)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 2229448	NM_003824.4(FADD):c.285A>C (p.Glu95Asp)	FADD, LOC130006295 (E95D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2916543	NM_003824.4(FADD):c.286+8C>T	FADD, LOC130006295	Single nucleotide variant (intron variant)	FADD-related immunodeficiency	GLikely benign
Select item 2195032	NM_003824.4(FADD):c.286+9G>C	FADD, LOC130006295	Single nucleotide variant (intron variant)	FADD-related immunodeficiency	GLikely benign
Select item 2919766	NM_003824.4(FADD):c.286+12G>C	FADD, LOC130006295	Single nucleotide variant (intron variant)	FADD-related immunodeficiency	GLikely benign
Select item 3021032	NM_003824.4(FADD):c.286+15G>T	FADD, LOC130006295	Single nucleotide variant (intron variant)	FADD-related immunodeficiency	GLikely benign
Select item 2971966	NM_003824.4(FADD):c.286+18_286+24del	FADD, LOC130006295	Deletion (intron variant)	FADD-related immunodeficiency	GLikely benign
Select item 1665610	NM_003824.4(FADD):c.286+20G>A	FADD, LOC130006295	Single nucleotide variant (intron variant)	FADD-related immunodeficiency	GLikely benign
Select item 1290023	NM_003824.4(FADD):c.287-162_287-161insA	FADD	Insertion (intron variant)	not provided	GBenign
Select item 1251480	NM_003824.4(FADD):c.287-49T>C	FADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1916625	NM_003824.4(FADD):c.287-18C>T	FADD	Single nucleotide variant (intron variant)	FADD-related immunodeficiency	GLikely benign
Select item 1603209	NM_003824.4(FADD):c.287-11T>G	FADD	Single nucleotide variant (intron variant)	FADD-related immunodeficiency	GLikely benign
Select item 471685	NM_003824.4(FADD):c.287-8C>G	FADD	Single nucleotide variant (intron variant)	FADD-related immunodeficiency	GLikely benign
Select item 1009010	NM_003824.4(FADD):c.304A>C (p.Asn102His)	FADD (N102H)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 640000	NM_003824.4(FADD):c.306C>G (p.Asn102Lys)	FADD (N102K)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 659707	NM_003824.4(FADD):c.307G>A (p.Val103Ile)	FADD (V103I)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 1494177	NM_003824.4(FADD):c.310A>G (p.Ile104Val)	FADD (I104V)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 242496	NM_003824.4(FADD):c.313T>C (p.Cys105Arg)	FADD (C105R)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 30267	NM_003824.4(FADD):c.315T>G (p.Cys105Trp)	FADD (C105W)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GPathogenic
Select item 1904081	NM_003824.4(FADD):c.316G>A (p.Asp106Asn)	FADD (D106N)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 844072	NM_003824.4(FADD):c.324G>A (p.Val108=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GUncertain significance
Select item 1380073	NM_003824.4(FADD):c.330A>C (p.Lys110Asn)	FADD (K110N)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 1992034	NM_003824.4(FADD):c.333T>C (p.Asp111=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 2097309	NM_003824.4(FADD):c.334T>G (p.Trp112Gly)	FADD (W112G)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 1950869	NM_003824.4(FADD):c.343C>T (p.Leu115=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 1686663	NM_003824.4(FADD):c.346G>C (p.Ala116Pro)	FADD (A116P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188612	NM_003824.4(FADD):c.349C>T (p.Arg117Cys)	FADD (R117C)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 806711	NM_003824.4(FADD):c.350G>A (p.Arg117His)	FADD (R117H)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency +1 more	GConflicting classifications of pathogenicity
Select item 1993314	NM_003824.4(FADD):c.359A>G (p.Lys120Arg)	FADD (K120R)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 1114613	NM_003824.4(FADD):c.378C>T (p.Ile126=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 946037	NM_003824.4(FADD):c.378C>G (p.Ile126Met)	FADD (I126M)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 1923265	NM_003824.4(FADD):c.382A>G (p.Ser128Gly)	FADD (S128G)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 2895628	NM_003824.4(FADD):c.384C>T (p.Ser128=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 1502513	NM_003824.4(FADD):c.385A>G (p.Ile129Val)	FADD (I129V)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 1009886	NM_003824.4(FADD):c.397T>C (p.Tyr133His)	FADD (Y133H)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 2055974	NM_003824.4(FADD):c.416A>G (p.Glu139Gly)	FADD (E139G)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 1027224	NM_003824.4(FADD):c.419G>A (p.Arg140His)	FADD (R140H)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 662236	NM_003824.4(FADD):c.439A>G (p.Ile147Val)	FADD (I147V)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 1133451	NM_003824.4(FADD):c.447G>A (p.Lys149=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 575179	NM_003824.4(FADD):c.452C>T (p.Thr151Ile)	FADD (T151I)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency +1 more	GUncertain significance
Select item 1629797	NM_003824.4(FADD):c.459G>A (p.Lys153=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 1148859	NM_003824.4(FADD):c.465C>T (p.Asn155=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 1008211	NM_003824.4(FADD):c.466G>A (p.Ala156Thr)	FADD (A156T)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 471686	NM_003824.4(FADD):c.475G>A (p.Ala159Thr)	FADD (A159T)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 2519941	NM_003824.4(FADD):c.478C>T (p.His160Tyr)	FADD (H160Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2825008	NM_003824.4(FADD):c.508A>T (p.Met170Leu)	FADD (M170L)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance

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