U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 62

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FAT4
(E1381D)
Single nucleotide variant
(missense variant)
Hennekam lymphangiectasia-lymphedema syndrome 2
+1 more
GUncertain significance
FAT4
(I1270L)
Single nucleotide variant
(missense variant)
Hennekam lymphangiectasia-lymphedema syndrome 2
+1 more
GUncertain significance
FAT4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAT4
(Q4528* +2 more)
Single nucleotide variant
(nonsense)
Hennekam lymphangiectasia-lymphedema syndrome 2
GPathogenic
FAT4
Single nucleotide variant
(intron variant)
Hennekam lymphangiectasia-lymphedema syndrome 2
GUncertain significance
FAT4
(S2737Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
FAT4
(D1785E)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 2
+2 more
GUncertain significance
FAT4
(P4756L +2 more)
Single nucleotide variant
(missense variant)
Hennekam lymphangiectasia-lymphedema syndrome 2
+2 more
GUncertain significance
FAT4
(G1361R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
FAT4
(D3712Y +1 more)
Single nucleotide variant
(missense variant)
Hennekam lymphangiectasia-lymphedema syndrome 2
+1 more
GUncertain significance
FAT4
(T2941A +1 more)
Single nucleotide variant
(missense variant)
Hennekam lymphangiectasia-lymphedema syndrome 2
+2 more
GUncertain significance
FAT4
(Y3546C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
FAT4
Single nucleotide variant
(intron variant)
Hennekam lymphangiectasia-lymphedema syndrome 2
+3 more
GBenign
FAT4
Single nucleotide variant
(intron variant)
Hennekam lymphangiectasia-lymphedema syndrome 2
+3 more
GBenign
FAT4
(T281I)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 2
+2 more
GBenign/Likely benign
FAT4
(A3149T +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FAT4
(V2436F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
FAT4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FAT4
(D2172A)
Single nucleotide variant
(missense variant)
Hennekam lymphangiectasia-lymphedema syndrome 2
GUncertain significance
FAT4
(T1721A)
Single nucleotide variant
(missense variant)
Hennekam lymphangiectasia-lymphedema syndrome 2
GUncertain significance
FAT4
(A4027T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FAT4
(S3049Y +1 more)
Single nucleotide variant
(missense variant)
Hennekam lymphangiectasia-lymphedema syndrome 2
+1 more
GUncertain significance
FAT4
(E2918G +1 more)
Single nucleotide variant
(missense variant)
Hennekam lymphangiectasia-lymphedema syndrome 2
GUncertain significance
FAT4
(I1478V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FAT4
(V764I)
Single nucleotide variant
(missense variant)
Hennekam lymphangiectasia-lymphedema syndrome 2
GUncertain significance
FAT4
(D3900E +1 more)
Single nucleotide variant
(missense variant)
Hennekam lymphangiectasia-lymphedema syndrome 2
GUncertain significance
FAT4
(A2487E +1 more)
Single nucleotide variant
(missense variant)
Hennekam lymphangiectasia-lymphedema syndrome 2
+2 more
GUncertain significance
FAT4
(P4800S +2 more)
Single nucleotide variant
(missense variant)
Hennekam lymphangiectasia-lymphedema syndrome 2
GUncertain significance
FAT4
(S1982G)
Single nucleotide variant
(missense variant)
Hennekam lymphangiectasia-lymphedema syndrome 2
GUncertain significance
FAT4
(V1515M)
Single nucleotide variant
(missense variant)
Hennekam lymphangiectasia-lymphedema syndrome 2
+1 more
GUncertain significance
FAT4
(A4977T +2 more)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 2
+2 more
GLikely benign
FAT4
Single nucleotide variant
(intron variant)
Hennekam lymphangiectasia-lymphedema syndrome 2
+3 more
GBenign
FAT4
(G62A)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 2
+2 more
GConflicting classifications of pathogenicity
FAT4
Single nucleotide variant
(synonymous variant)
Van Maldergem syndrome 2
+2 more
GBenign
FAT4
(I3079V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAT4
(R4214H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
FAT4
(T2032A)
Single nucleotide variant
(missense variant)
Hennekam lymphangiectasia-lymphedema syndrome 2
+2 more
GConflicting classifications of pathogenicity
FAT4
(A2368E)
Single nucleotide variant
(missense variant)
Hennekam lymphangiectasia-lymphedema syndrome 2
+1 more
GConflicting classifications of pathogenicity
FAT4
Single nucleotide variant
(synonymous variant)
Van Maldergem syndrome 2
+3 more
GBenign/Likely benign
FAT4
Single nucleotide variant
(synonymous variant)
Van Maldergem syndrome 2
+3 more
GBenign/Likely benign
FAT4
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
FAT4
(G3524D +1 more)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 2
+3 more
GBenign
FAT4
(Q453L)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 2
+3 more
GBenign
FAT4
Single nucleotide variant
(synonymous variant)
Van Maldergem syndrome 2
+3 more
GBenign
FAT4
Single nucleotide variant
(synonymous variant)
Van Maldergem syndrome 2
+3 more
GBenign
FAT4
Single nucleotide variant
(intron variant)
Van Maldergem syndrome 2
+3 more
GBenign
FAT4
(S3873N +1 more)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 2
+3 more
GBenign
FAT4
Single nucleotide variant
(synonymous variant)
Van Maldergem syndrome 2
+3 more
GBenign
FAT4
Single nucleotide variant
(synonymous variant)
Van Maldergem syndrome 2
+3 more
GBenign
FAT4
Single nucleotide variant
(synonymous variant)
Van Maldergem syndrome 2
+3 more
GBenign
FAT4
(A807V)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
FAT4
Single nucleotide variant
(synonymous variant)
Hennekam lymphangiectasia-lymphedema syndrome 2
+3 more
GBenign
FAT4
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
FAT4
(I1435V)
Single nucleotide variant
(missense variant)
Hennekam lymphangiectasia-lymphedema syndrome 2
+3 more
GBenign/Likely benign
FAT4
(I3604L +1 more)
Single nucleotide variant
(missense variant)
Hennekam lymphangiectasia-lymphedema syndrome 2
+3 more
GBenign/Likely benign
FAT4
(I1759V)
Single nucleotide variant
(missense variant)
Hennekam lymphangiectasia-lymphedema syndrome 2
+2 more
GConflicting classifications of pathogenicity
FAT4
(T1866M)
Single nucleotide variant
(missense variant)
Hennekam lymphangiectasia-lymphedema syndrome 2
+1 more
GConflicting classifications of pathogenicity
FAT4
Single nucleotide variant
(synonymous variant +1 more)
Hennekam lymphangiectasia-lymphedema syndrome 2
GPathogenic
FAT4
(S4284F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAT4
(L399fs)
Deletion
(frameshift variant)
Hennekam lymphangiectasia-lymphedema syndrome 2
GPathogenic
FAT4
Microsatellite
(inframe_insertion)
Hennekam lymphangiectasia-lymphedema syndrome 2
GPathogenic
FAT4
(E2375K)
Single nucleotide variant
(missense variant)
Hennekam lymphangiectasia-lymphedema syndrome 2
+1 more
GPathogenic
Format
Items per page
Sort by
Choose Destination