"GeneDx"[submitter] AND "AFF4"[gene] - ClinVar

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Search results

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 1307074	NM_014423.4(AFF4):c.3466C>T (p.Arg1156Cys)	AFF4 (R1156C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1294977	NM_014423.4(AFF4):c.3365-189G>T	AFF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286410	NM_014423.4(AFF4):c.3364+245G>T	AFF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267749	NM_014423.4(AFF4):c.3364+82T>C	AFF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1304590	NM_014423.4(AFF4):c.3307T>A (p.Phe1103Ile)	AFF4 (F1103I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1271361	NM_014423.4(AFF4):c.3144-52T>A	AFF4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1289063	NM_014423.4(AFF4):c.3144-132C>T	AFF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262463	NM_014423.4(AFF4):c.3143+20G>A	AFF4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1279209	NM_014423.4(AFF4):c.3100-158AC[11]	AFF4	Microsatellite (intron variant)	not provided	GBenign
Select item 1275055	NM_014423.4(AFF4):c.3100-158AC[12]	AFF4	Microsatellite (intron variant)	not provided	GBenign
Select item 1260380	NM_014423.4(AFF4):c.3100-158AC[13]	AFF4	Microsatellite (intron variant)	not provided	GBenign
Select item 3375510	NM_014423.4(AFF4):c.3042C>G (p.Phe1014Leu)	AFF4 (F1014L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314736	NM_014423.4(AFF4):c.3005+2T>C	AFF4	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1271136	NM_014423.4(AFF4):c.2637+179T>C	AFF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3364582	NM_014423.4(AFF4):c.2494A>G (p.Lys832Glu)	AFF4 (K832E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1248920	NM_014423.4(AFF4):c.2397-37T>C	AFF4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1329649	NM_014423.4(AFF4):c.2389A>G (p.Asn797Asp)	AFF4 (N797D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708875	NM_014423.4(AFF4):c.2362A>C (p.Asn788His)	AFF4 (N788H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1273859	NM_014423.4(AFF4):c.2308-173C>T	AFF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2582007	NM_014423.4(AFF4):c.2090A>G (p.Glu697Gly)	AFF4 (E697G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1170072	NM_014423.4(AFF4):c.2007C>T (p.Pro669=)	AFF4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1198091	NM_014423.4(AFF4):c.1873G>T (p.Ala625Ser)	AFF4 (A625S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365648	NM_014423.4(AFF4):c.1835A>T (p.Asn612Ile)	AFF4 (N612I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311058	NM_014423.4(AFF4):c.1615G>C (p.Gly539Arg)	AFF4 (G539R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 388167	NM_014423.4(AFF4):c.1592G>A (p.Arg531Gln)	AFF4 (R531Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3369716	NM_014423.4(AFF4):c.1426A>G (p.Asn476Asp)	AFF4 (N476D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1188908	NM_014423.4(AFF4):c.1227-69dup	AFF4	Duplication (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome +1 more	GBenign
Select item 1260670	NM_014423.4(AFF4):c.1227-99del	AFF4	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1285847	NM_014423.4(AFF4):c.1226+94T>C	AFF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3363819	NM_014423.4(AFF4):c.1111del (p.Ser371fs)	AFF4 (S371fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1267043	NM_014423.4(AFF4):c.1087+142_1087+183del	AFF4	Deletion (intron variant)	not provided	GBenign
Select item 1272579	NM_014423.4(AFF4):c.1087+121G>C	AFF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302088	NM_014423.4(AFF4):c.1073G>T (p.Gly358Val)	AFF4 (G358V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723500	NM_014423.4(AFF4):c.1064C>T (p.Ser355Phe)	AFF4 (S355F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1271904	NM_014423.4(AFF4):c.1051-17A>C	AFF4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1230780	NM_014423.4(AFF4):c.1051-55A>G	AFF4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1278381	NM_014423.4(AFF4):c.1051-219T>C	AFF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2662450	NM_014423.4(AFF4):c.1025C>T (p.Pro342Leu)	AFF4 (P342L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1234296	NM_014423.4(AFF4):c.963+12dup	AFF4	Duplication (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome +1 more	GBenign
Select item 1241126	NM_014423.4(AFF4):c.963+11T>A	AFF4	Single nucleotide variant (intron variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome +1 more	GBenign
Select item 2662967	NM_014423.4(AFF4):c.918+1G>A	AFF4	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2575629	NM_014423.4(AFF4):c.908A>C (p.Gln303Pro)	AFF4 (Q303P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 190331	NM_014423.4(AFF4):c.772C>T (p.Arg258Trp)	AFF4 (R258W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 190330	NM_014423.4(AFF4):c.761C>G (p.Thr254Ser)	AFF4 (T254S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2442729	NM_014423.4(AFF4):c.661del (p.Asp221fs)	AFF4 (D221fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3364250	NM_014423.4(AFF4):c.572_580delinsG (p.Asn191fs)	AFF4 (N191fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 3371762	NM_014423.4(AFF4):c.444_479del (p.Gln149_Gly160del)	AFF4	Deletion	not provided	GUncertain significance
Select item 1272855	NM_014423.4(AFF4):c.124-30A>T	AFF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281978	NM_014423.4(AFF4):c.124-84G>A	AFF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3343134	NM_014423.4(AFF4):c.29G>A (p.Arg10His)	AFF4 (R10H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1304297	NM_014423.4(AFF4):c.-1C>T	AFF4	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1288133	NM_014423.4(AFF4):c.-4-146A>G	AFF4	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 53