"Genome-Nilou Lab"[submitter] AND "FAT4"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 380812	NM_001291303.3(FAT4):c.1358A>T (p.Gln453Leu)	FAT4 (Q453L)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +3 more	GBenign
Select item 380329	NM_001291303.3(FAT4):c.2420C>T (p.Ala807Val)	FAT4 (A807V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 380793	NM_001291303.3(FAT4):c.2944T>C (p.Leu982=)	FAT4	Single nucleotide variant (synonymous variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +3 more	GBenign
Select item 377855	NM_001291303.3(FAT4):c.4305C>T (p.Ile1435=)	FAT4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 380250	NM_001291303.3(FAT4):c.5760T>C (p.Asp1920=)	FAT4	Single nucleotide variant (synonymous variant)	Van Maldergem syndrome 2 +3 more	GBenign
Select item 380794	NM_001291303.3(FAT4):c.6585T>C (p.Asn2195=)	FAT4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1285260	NM_001291303.3(FAT4):c.6843+29G>T	FAT4	Single nucleotide variant (intron variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +3 more	GBenign
Select item 1222490	NM_001291303.3(FAT4):c.7199+29T>G	FAT4	Single nucleotide variant (intron variant)	Van Maldergem syndrome 2 +3 more	GBenign
Select item 380795	NM_001291303.3(FAT4):c.7707G>C (p.Val2569=)	FAT4	Single nucleotide variant (synonymous variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +3 more	GBenign
Select item 380813	NM_001291303.3(FAT4):c.10577G>A (p.Gly3526Asp)	FAT4 (G3524D +1 more)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +3 more	GBenign
Select item 380797	NM_001291303.3(FAT4):c.11624G>A (p.Ser3875Asn)	FAT4 (S3873N +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 380799	NM_001291303.3(FAT4):c.12214-5C>T	FAT4	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 680154	NM_001291303.3(FAT4):c.12822+28T>G	FAT4	Single nucleotide variant (intron variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +3 more	GBenign
Select item 380809	NM_001291303.3(FAT4):c.13623G>A (p.Glu4541=)	FAT4	Single nucleotide variant (synonymous variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +3 more	GBenign
Select item 380802	NM_001291303.3(FAT4):c.14604A>G (p.Arg4868=)	FAT4	Single nucleotide variant (synonymous variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +3 more	GBenign