Related gene-specific medical variations for Gene (Select 79633) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672197	NM_001291303.3(FAT4):c.13247T>A (p.Leu4416Gln)	FAT4 (L4414Q +2 more)	Single nucleotide variant (missense variant)	Van Maldergem 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 2441372	NM_001291303.3(FAT4):c.10752G>A (p.Leu3584=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2441371	NM_001291303.3(FAT4):c.2011T>C (p.Ser671Pro)	FAT4 (S671P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441370	NM_001291303.3(FAT4):c.4040A>G (p.Asn1347Ser)	FAT4 (N1347S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441369	NM_001291303.3(FAT4):c.10743C>A (p.Asp3581Glu)	FAT4 (D3579E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441367	NM_001291303.3(FAT4):c.4721C>T (p.Thr1574Ile)	FAT4 (T1574I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441366	NM_001291303.3(FAT4):c.3737A>G (p.His1246Arg)	FAT4 (H1246R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679495	NM_001291303.3(FAT4):c.4195C>A (p.Pro1399Thr)	FAT4 (P1399T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 932020	NM_001291303.3(FAT4):c.14404C>T (p.Pro4802Ser)	FAT4 (P4800S +2 more)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2	GUncertain significance
Select item 931780	NM_001291303.3(FAT4):c.5944A>G (p.Ser1982Gly)	FAT4 (S1982G)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 2	GUncertain significance
Select item 591588	NM_001291303.3(FAT4):c.13641GAA[2] (p.Lys4551del)	FAT4 (K4551del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 591524	NM_001291303.3(FAT4):c.3842A>G (p.Tyr1281Cys)	FAT4 (Y1281C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 523012	NM_001291303.3(FAT4):c.913A>T (p.Ile305Phe)	FAT4 (I305F)	Single nucleotide variant (missense variant)	Hennekam lymphangiectasia-lymphedema syndrome 1	GUncertain significance
Select item 522673	NM_001291303.3(FAT4):c.13525G>C (p.Ala4509Pro)	FAT4 (A4507P +2 more)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 2	GUncertain significance