U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 67

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNA, LOC107988032
(F2570L +1 more)
Single nucleotide variant
(missense variant)
Frontometaphyseal dysplasia 1
GLikely pathogenic
FLNA
Single nucleotide variant
(synonymous variant)
Frontometaphyseal dysplasia 1
+8 more
GUncertain significance
FLNA, LOC107988032
(P2630L +1 more)
Single nucleotide variant
(missense variant)
Frontometaphyseal dysplasia 1
GUncertain significance
FLNA
(E1577G)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
FLNA
(T1542I)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+10 more
GConflicting classifications of pathogenicity
FLNA
(I822V)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+9 more
GUncertain significance
FLNA
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+9 more
GLikely benign
FLNA
(V864F)
Single nucleotide variant
(missense variant)
Cardiac valvular dysplasia, X-linked
+9 more
GConflicting classifications of pathogenicity
FLNA
(H354Y)
Single nucleotide variant
(missense variant)
Oto-palato-digital syndrome, type II
+11 more
GUncertain significance
EMD, FLNA
+3 more
Duplication
Heterotopia, periventricular, X-linked dominant
+4 more
GUncertain significance
FLNA
(E798K)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+10 more
GConflicting classifications of pathogenicity
FLNA
(K994R)
Single nucleotide variant
(missense variant)
Melnick-Needles syndrome
+9 more
GConflicting classifications of pathogenicity
FLNA
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+9 more
GLikely benign
FLNA
(T608M)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+10 more
GUncertain significance
DNASE1L1, EMD
+3 more
Duplication
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(R1959C +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+4 more
GUncertain significance
FLNA
(D922H)
Single nucleotide variant
(missense variant)
Intellectual disability
+4 more
GUncertain significance
FLNA
(V2104I +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
Duplication
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(K165R)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
FLNA
(T402A)
Single nucleotide variant
(missense variant)
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
+8 more
GUncertain significance
FLNA
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+11 more
GLikely benign
FLNA
(F1438L)
Single nucleotide variant
(missense variant)
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
+8 more
GUncertain significance
FLNA
(M424V)
Single nucleotide variant
(missense variant)
Cardiac valvular dysplasia, X-linked
+11 more
GConflicting classifications of pathogenicity
FLNA
(T992A)
Single nucleotide variant
(missense variant)
Cardiac valvular dysplasia, X-linked
+10 more
GConflicting classifications of pathogenicity
FLNA
(R340H)
Single nucleotide variant
(missense variant)
Cardiac valvular dysplasia, X-linked
+9 more
GUncertain significance
FLNA
(R708W)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+5 more
GConflicting classifications of pathogenicity
EMD, FLNA
Duplication
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(Q182H)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
FLNA
Duplication
Melnick-Needles syndrome
+3 more
GUncertain significance
FLNA
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GLikely benign
FLNA
(P2118S +1 more)
Single nucleotide variant
(missense variant)
Melnick-Needles syndrome
+10 more
GConflicting classifications of pathogenicity
FLNA
Single nucleotide variant
(synonymous variant)
not specified
+10 more
GLikely benign
FLNA
Single nucleotide variant
(intron variant)
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
+10 more
GUncertain significance
FLNA
(R2280H +1 more)
Single nucleotide variant
(missense variant)
Melnick-Needles syndrome
+11 more
GConflicting classifications of pathogenicity
FLNA
(L1224F)
Single nucleotide variant
(missense variant)
Melnick-Needles syndrome
+9 more
GUncertain significance
FLNA
(N931I)
Single nucleotide variant
(missense variant)
Melnick-Needles syndrome
+8 more
GUncertain significance
FLNA
(G524E)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
FLNA
(R2234Q +1 more)
Single nucleotide variant
(missense variant)
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
+11 more
GConflicting classifications of pathogenicity
FLNA
(V752I)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+11 more
GUncertain significance
FLNA
Single nucleotide variant
(synonymous variant)
not provided
+11 more
GBenign/Likely benign
FLNA, LOC107988032
(C2535Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+12 more
GConflicting classifications of pathogenicity
FLNA
Single nucleotide variant
(synonymous variant)
not provided
+12 more
GBenign/Likely benign
FLNA
(T2457I +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+4 more
GUncertain significance
FLNA
(F2353L +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+5 more
GUncertain significance
FLNA
(V804I)
Single nucleotide variant
(missense variant)
Melnick-Needles syndrome
+10 more
GUncertain significance
FLNA
(R190Q)
Single nucleotide variant
(missense variant)
FG syndrome 2
+10 more
GConflicting classifications of pathogenicity
FLNA
(P2415S +1 more)
Single nucleotide variant
(missense variant)
Melnick-Needles syndrome
+13 more
GBenign/Likely benign
FLNA
(N2109S +1 more)
Single nucleotide variant
(missense variant)
Melnick-Needles syndrome
+13 more
GLikely benign
FLNA
(A1141T)
Single nucleotide variant
(missense variant)
Melnick-Needles syndrome
+12 more
GBenign/Likely benign
FLNA
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+12 more
GBenign/Likely benign
FLNA
Single nucleotide variant
(intron variant)
FG syndrome 2
+10 more
GBenign/Likely benign
FLNA
(T839M)
Single nucleotide variant
(missense variant)
Melnick-Needles syndrome
+11 more
GBenign/Likely benign
FLNA
(K2232R +1 more)
Single nucleotide variant
(missense variant)
not specified
+12 more
GConflicting classifications of pathogenicity
FLNA
(T1506I)
Single nucleotide variant
(missense variant)
Melnick-Needles syndrome
+11 more
GConflicting classifications of pathogenicity
FLNA
(R301W)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+12 more
GConflicting classifications of pathogenicity
FLNA
Single nucleotide variant
(intron variant)
not provided
+11 more
GBenign
FLNA, LOC107988032
Single nucleotide variant
(intron variant)
not provided
+12 more
GBenign/Likely benign
FLNA
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+13 more
GBenign/Likely benign
FLNA
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+14 more
GBenign/Likely benign
FLNA
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+13 more
GBenign
FLNA
(S1991L)
Single nucleotide variant
(missense variant)
History of neurodevelopmental disorder
+14 more
GBenign/Likely benign
FLNA
(C1108Y)
Single nucleotide variant
(missense variant)
not specified
+11 more
GConflicting classifications of pathogenicity
FLNA
(S1012L)
Single nucleotide variant
(missense variant)
History of neurodevelopmental disorder
+14 more
GBenign/Likely benign
FLNA
(T429M)
Single nucleotide variant
(missense variant)
Terminal osseous dysplasia-pigmentary defects syndrome
+13 more
GBenign/Likely benign
FLNA
(S1186L)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
FLNA
(D1159A)
Single nucleotide variant
(missense variant)
Frontometaphyseal dysplasia 1
GPathogenic
Format
Items per page
Sort by
Choose Destination