"Baylor Genetics"[submitter] AND "FAT4"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028320	NM_001291303.3(FAT4):c.2290G>A (p.Val764Ile)	FAT4 (V764I)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2	GUncertain significance
Select item 2442223	NM_001291303.3(FAT4):c.4143A>T (p.Glu1381Asp)	FAT4 (E1381D)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +1 more	GUncertain significance
Select item 1028321	NM_001291303.3(FAT4):c.4432A>G (p.Ile1478Val)	FAT4 (I1478V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1031382	NM_001291303.3(FAT4):c.5161A>G (p.Thr1721Ala)	FAT4 (T1721A)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2	GUncertain significance
Select item 1031383	NM_001291303.3(FAT4):c.6515A>C (p.Asp2172Ala)	FAT4 (D2172A)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2	GUncertain significance
Select item 424428	NM_001291303.3(FAT4):c.7103C>A (p.Ala2368Glu)	FAT4 (A2368E)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 1032176	NM_001291303.3(FAT4):c.8313T>C (p.Asn2771=)	FAT4	Single nucleotide variant (synonymous variant)	FAT4-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1028322	NM_001291303.3(FAT4):c.8753A>G (p.Glu2918Gly)	FAT4 (E2918G +1 more)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2	GUncertain significance
Select item 1426097	NM_001291303.3(FAT4):c.8821A>G (p.Thr2941Ala)	FAT4 (T2941A +1 more)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +2 more	GUncertain significance
Select item 1028323	NM_001291303.3(FAT4):c.9152C>A (p.Ser3051Tyr)	FAT4 (S3049Y +1 more)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +1 more	GUncertain significance
Select item 1028317	NM_001291303.3(FAT4):c.11706T>G (p.Asp3902Glu)	FAT4 (D3900E +1 more)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2	GUncertain significance
Select item 1031381	NM_001291303.3(FAT4):c.12085G>A (p.Ala4029Thr)	FAT4 (A4027T +1 more)	Single nucleotide variant (missense variant)	FAT4-related condition +2 more	GConflicting classifications of pathogenicity
Select item 432221	NM_001291303.3(FAT4):c.12647G>A (p.Arg4216His)	FAT4 (R4214H +1 more)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 1028318	NM_001291303.3(FAT4):c.13385G>A (p.Arg4462Lys)	FAT4 (R4462K +2 more)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 2	GUncertain significance
Select item 1028319	NM_001291303.3(FAT4):c.13402G>A (p.Val4468Met)	FAT4 (V4466M +2 more)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 2	GUncertain significance