"Fulgent Genetics, Fulgent Genetics"[submitter] AND "FAT4"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1199864	NM_001291303.3(FAT4):c.842C>T (p.Thr281Ile)	FAT4 (T281I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 384624	NM_001291303.3(FAT4):c.1101A>G (p.Val367=)	FAT4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 670933	NM_001291303.3(FAT4):c.2919C>T (p.Val973=)	FAT4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1496370	NM_001291303.3(FAT4):c.4081G>A (p.Gly1361Arg)	FAT4 (G1361R)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +3 more	GUncertain significance
Select item 1524487	NM_001291303.3(FAT4):c.5355T>G (p.Asp1785Glu)	FAT4 (D1785E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1027298	NM_001291303.3(FAT4):c.7466C>A (p.Ala2489Glu)	FAT4 (A2487E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 384298	NM_001291303.3(FAT4):c.8592G>A (p.Val2864=)	FAT4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 377311	NM_001291303.3(FAT4):c.10810A>C (p.Ile3604Leu)	FAT4 (I3604L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1498817	NM_001291303.3(FAT4):c.14273C>T (p.Pro4758Leu)	FAT4 (P4756L +2 more)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +2 more	GUncertain significance
Select item 380905	NM_001291303.3(FAT4):c.14361C>T (p.Val4787=)	FAT4	Single nucleotide variant (synonymous variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +3 more	GBenign/Likely benign
Select item 680458	NM_001291303.3(FAT4):c.14935G>A (p.Ala4979Thr)	FAT4 (A4977T +2 more)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 2 +2 more	GLikely benign