ClinVar for Gene (Select 8772) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3020541	NM_003824.4(FADD):c.123C>T (p.Ser41=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
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 2995342	NM_003824.4(FADD):c.210G>A (p.Leu70=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
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 2971966	NM_003824.4(FADD):c.286+18_286+24del	FADD, LOC130006295	Deletion (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 2916543	NM_003824.4(FADD):c.286+8C>T	FADD, LOC130006295	Single nucleotide variant (intron variant)	FADD-related immunodeficiency	GLikely benign
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 2891879	NM_003824.4(FADD):c.132C>T (p.Asp44=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
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 2883286	NM_003824.4(FADD):c.66G>A (p.Glu22=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
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 2848649	NM_003824.4(FADD):c.549C>T (p.Ala183=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 2825008	NM_003824.4(FADD):c.508A>T (p.Met170Leu)	FADD (M170L)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
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 2803940	NM_003824.4(FADD):c.558C>T (p.Leu186=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 2789899	NM_003824.4(FADD):c.582C>T (p.Ser194=)	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 2768183	NM_003824.4(FADD):c.9G>A (p.Pro3=)	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 2695129	NM_003824.4(FADD):c.206C>T (p.Ser69Phe)	FADD (S69F)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
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 2519941	NM_003824.4(FADD):c.478C>T (p.His160Tyr)	FADD (H160Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
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 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 2202014	NM_003824.4(FADD):c.264C>A (p.Ala88=)	FADD, LOC130006295	Single nucleotide variant (synonymous 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 2188612	NM_003824.4(FADD):c.349C>T (p.Arg117Cys)	FADD (R117C)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
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 2166212	NM_003824.4(FADD):c.603C>T (p.Asp201=)	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 2072869	NM_003824.4(FADD):c.175C>T (p.His59Tyr)	FADD (H59Y)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 2058267	NM_003824.4(FADD):c.541C>G (p.Gln181Glu)	FADD (Q181E)	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 2055441	NM_003824.4(FADD):c.225G>A (p.Leu75=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 2044254	NM_003824.4(FADD):c.513C>A (p.Asn171Lys)	FADD (N171K)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
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 1992034	NM_003824.4(FADD):c.333T>C (p.Asp111=)	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 1956724	NM_003824.4(FADD):c.87G>A (p.Gly29=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
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 1940096	NM_003824.4(FADD):c.109G>A (p.Glu37Lys)	FADD (E37K)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
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 1923851	NM_003824.4(FADD):c.223C>T (p.Leu75=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
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 1921752	NM_003824.4(FADD):c.621G>A (p.Ala207=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 1916625	NM_003824.4(FADD):c.287-18C>T	FADD	Single nucleotide variant (intron variant)	FADD-related immunodeficiency	GLikely benign
Select item 1913323	NM_003824.4(FADD):c.578T>C (p.Met193Thr)	FADD (M193T)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
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 1809037	GRCh37/hg19 11q13.3(chr11:69559588-70347818)x3	ANO1, CTTN +5 more	Copy number gain	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
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 1665610	NM_003824.4(FADD):c.286+20G>A	FADD, LOC130006295	Single nucleotide variant (intron variant)	FADD-related immunodeficiency	GLikely 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 1629797	NM_003824.4(FADD):c.459G>A (p.Lys153=)	FADD	Single nucleotide variant (synonymous 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 1583935	NM_003824.4(FADD):c.187C>T (p.Leu63=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
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 1572633	NM_003824.4(FADD):c.234C>G (p.Arg78=)	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 1565205	NM_003824.4(FADD):c.606A>G (p.Ala202=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
Select item 1503264	NM_003824.4(FADD):c.617A>C (p.Glu206Ala)	FADD (E206A)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
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 1494177	NM_003824.4(FADD):c.310A>G (p.Ile104Val)	FADD (I104V)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 1482860	NM_003824.4(FADD):c.623C>T (p.Ser208Phe)	FADD (S208F)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 1401800	NM_003824.4(FADD):c.547G>T (p.Ala183Ser)	FADD (A183S)	Single nucleotide variant (missense 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 1377943	NM_003824.4(FADD):c.604G>A (p.Ala202Thr)	FADD (A202T)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 1361585	NM_003824.4(FADD):c.584C>T (p.Pro195Leu)	FADD (P195L)	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 1340992	GRCh37/hg19 11q13.3-13.4(chr11:69214835-70821137)x1	ANO1, CCND1 +8 more	Copy number loss	not provided	GPathogenic
Select item 1294741	NC_000011.10:g.70203190G>A	FADD	Single nucleotide variant	not provided	GBenign
Select item 1294696	NC_000011.10:g.70203147T>C	FADD	Single nucleotide variant	not provided	GBenign
Select item 1290023	NM_003824.4(FADD):c.287-162_287-161insA	FADD	Insertion (intron variant)	not provided	GBenign
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 1251480	NM_003824.4(FADD):c.287-49T>C	FADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174392	NM_003824.4(FADD):c.-43A>G	FADD	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1148859	NM_003824.4(FADD):c.465C>T (p.Asn155=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related condition +1 more	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 1147778	NM_003824.4(FADD):c.591A>G (p.Ser197=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
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 1141343	NM_003824.4(FADD):c.81C>T (p.Cys27=)	FADD	Single nucleotide variant (synonymous variant)	FADD-related immunodeficiency	GLikely benign
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 1128791	NM_003824.4(FADD):c.620C>T (p.Ala207Val)	FADD (A207V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 1114613	NM_003824.4(FADD):c.378C>T (p.Ile126=)	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 1063379	NM_003824.4(FADD):c.89G>C (p.Arg30Pro)	FADD (R30P)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
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 1047817	NM_003824.4(FADD):c.8C>G (p.Pro3Arg)	FADD (P3R)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
Select item 1039740	NM_003824.4(FADD):c.551G>A (p.Arg184His)	FADD (R184H)	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 1009886	NM_003824.4(FADD):c.397T>C (p.Tyr133His)	FADD (Y133H)	Single nucleotide variant (missense variant)	FADD-related immunodeficiency	GUncertain significance
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 1008211	NM_003824.4(FADD):c.466G>A (p.Ala156Thr)	FADD (A156T)	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 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic

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