"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "AFF4"[gene - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2655700	NM_014423.4(AFF4):c.3343C>G (p.Gln1115Glu)	AFF4 (Q1115E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 766939	NM_014423.4(AFF4):c.3319A>G (p.Thr1107Ala)	AFF4 (T1107A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 779059	NM_014423.4(AFF4):c.3312C>G (p.Leu1104=)	AFF4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 707434	NM_014423.4(AFF4):c.3216G>A (p.Gly1072=)	AFF4	Single nucleotide variant (synonymous variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome +2 more	GLikely benign
Select item 2673027	NM_014423.4(AFF4):c.3044A>G (p.Lys1015Arg)	AFF4 (K1015R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1356977	NM_014423.4(AFF4):c.2995A>G (p.Thr999Ala)	AFF4 (T999A)	Single nucleotide variant (missense variant)	AFF4-related condition +2 more	GConflicting classifications of pathogenicity
Select item 772457	NM_014423.4(AFF4):c.2669C>T (p.Pro890Leu)	AFF4 (P890L)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1335595	NM_014423.4(AFF4):c.2637+32A>G	AFF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 493416	NM_014423.4(AFF4):c.2491C>T (p.Arg831Trp)	AFF4 (R831W)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome +1 more	GUncertain significance
Select item 444661	NM_014423.4(AFF4):c.2359A>G (p.Lys787Glu)	AFF4 (K787E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1013269	NM_014423.4(AFF4):c.2260A>G (p.Lys754Glu)	AFF4 (K754E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075558	NM_014423.4(AFF4):c.2207C>T (p.Pro736Leu)	AFF4 (P736L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2571231	NM_014423.4(AFF4):c.2140C>T (p.Leu714Phe)	AFF4 (L714F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571232	NM_014423.4(AFF4):c.2111C>T (p.Pro704Leu)	AFF4 (P704L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 871553	NM_014423.4(AFF4):c.2005C>T (p.Pro669Ser)	AFF4 (P669S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711610	NM_014423.4(AFF4):c.1840AAG[1] (p.Lys615del)	AFF4 (K615del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 434102	NM_014423.4(AFF4):c.1586C>T (p.Pro529Leu)	AFF4 (P529L)	Single nucleotide variant (missense variant)	AFF4-related condition +4 more	GLikely benign
Select item 871554	NM_014423.4(AFF4):c.1293C>T (p.His431=)	AFF4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2655701	NM_014423.4(AFF4):c.1241C>T (p.Ser414Leu)	AFF4 (S414L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025310	NM_014423.4(AFF4):c.888C>T (p.Thr296=)	AFF4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1445144	NM_014423.4(AFF4):c.830G>T (p.Ser277Ile)	AFF4 (S277I)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome +1 more	GUncertain significance
Select item 766844	NM_014423.4(AFF4):c.819G>A (p.Glu273=)	AFF4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1953173	NM_014423.4(AFF4):c.529C>T (p.Arg177Cys)	AFF4 (R177C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2655702	NM_014423.4(AFF4):c.145T>C (p.Ser49Pro)	AFF4 (S49P)	Single nucleotide variant (missense variant)	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome +1 more	GUncertain significance
Select item 1711619	GRCh37/hg19 5q31.1(chr5:132267870-132270633)x1	AFF4	Copy number loss	not provided	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign

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Items: 27