U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 168

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SRCAP
(R319C)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
GLikely benign
SRCAP
(E1183K)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
GLikely benign
SRCAP
(T1477A)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
GUncertain significance
SRCAP
(A2470D)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
GUncertain significance
SRCAP
(T1865I)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
GUncertain significance
SRCAP
Deletion
(splice acceptor variant)
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
+1 more
GPathogenic
SRCAP
(E2405fs)
Microsatellite
(frameshift variant)
Floating-Harbor syndrome
GPathogenic
SRCAP
(G3164R)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
GUncertain significance
SRCAP
(P2413fs)
Deletion
(frameshift variant)
Floating-Harbor syndrome
GLikely pathogenic
SRCAP
(R2768L)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
GUncertain significance
SRCAP
(V1824M)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
GUncertain significance
SRCAP
(P2455fs)
Deletion
(frameshift variant)
Floating-Harbor syndrome
GLikely pathogenic
SRCAP
(V2646fs)
Microsatellite
(frameshift variant)
Floating-Harbor syndrome
GLikely pathogenic
SRCAP
(Q2237P)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
GUncertain significance
SRCAP
(D565N)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
GUncertain significance
SRCAP
(Q939R)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
GUncertain significance
SRCAP
(Q2622*)
Single nucleotide variant
(nonsense)
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
+1 more
GPathogenic
SRCAP
Single nucleotide variant
(intron variant)
Floating-Harbor syndrome
+2 more
GBenign/Likely benign
SRCAP
Single nucleotide variant
(intron variant)
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
+2 more
GLikely benign
SRCAP
Single nucleotide variant
(synonymous variant)
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
+2 more
GLikely benign
SRCAP
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
SRCAP
(A1363G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
SRCAP
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
SRCAP
Single nucleotide variant
(synonymous variant)
Floating-Harbor syndrome
+2 more
GBenign/Likely benign
SRCAP
Single nucleotide variant
(intron variant)
Floating-Harbor syndrome
+2 more
GBenign/Likely benign
SRCAP
Single nucleotide variant
(synonymous variant)
Floating-Harbor syndrome
+2 more
GLikely benign
SRCAP
Single nucleotide variant
(synonymous variant)
Floating-Harbor syndrome
+2 more
GLikely benign
SRCAP
Single nucleotide variant
(synonymous variant)
Floating-Harbor syndrome
+2 more
GLikely benign
SRCAP
Single nucleotide variant
(intron variant)
Floating-Harbor syndrome
+2 more
GBenign/Likely benign
SRCAP
Single nucleotide variant
(synonymous variant)
SRCAP-related disorder
+3 more
GLikely benign
SRCAP
Single nucleotide variant
(synonymous variant)
Floating-Harbor syndrome
+2 more
GBenign/Likely benign
SRCAP
Single nucleotide variant
(synonymous variant)
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
+2 more
GLikely benign
SRCAP
Single nucleotide variant
(synonymous variant)
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
+2 more
GBenign/Likely benign
SRCAP
(V2222M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
SRCAP
Single nucleotide variant
(intron variant)
SRCAP-related disorder
+3 more
GLikely benign
SRCAP
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
SRCAP
(R3188C)
Single nucleotide variant
(missense variant)
SRCAP-related disorder
+3 more
GLikely benign
SRCAP
(P2617L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GLikely benign
SRCAP
Single nucleotide variant
(synonymous variant)
Floating-Harbor syndrome
+2 more
GBenign/Likely benign
SRCAP
(M2796T)
Single nucleotide variant
(missense variant)
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
+3 more
GLikely benign
SRCAP
(I2805T)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
+2 more
GUncertain significance
SRCAP
(M1415L)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
+2 more
GUncertain significance
SRCAP
(R2017Q)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
+2 more
GUncertain significance
SRCAP
(S1826L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SRCAP
(S1717L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SRCAP
(R986W)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
+2 more
GUncertain significance
SRCAP
(P2898R)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
+2 more
GUncertain significance
SRCAP
Single nucleotide variant
(intron variant)
Floating-Harbor syndrome
+2 more
GUncertain significance
SRCAP
(R3065C)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
+2 more
GUncertain significance
SRCAP
(P2933L)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
+2 more
GUncertain significance
SRCAP
(A1802T)
Single nucleotide variant
(missense variant)
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
+2 more
GUncertain significance
SRCAP
(V1009L)
Single nucleotide variant
(missense variant)
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
+2 more
GUncertain significance
SRCAP
(R1903W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
SRCAP
(R1840W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SRCAP
(A883G)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
SRCAP
Single nucleotide variant
(intron variant)
Floating-Harbor syndrome
+2 more
GUncertain significance
SRCAP
(H93R)
Single nucleotide variant
(missense variant)
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
+2 more
GUncertain significance
SRCAP
(A1161T)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
+3 more
GUncertain significance
SRCAP
(P1739L)
Single nucleotide variant
(missense variant)
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
+2 more
GUncertain significance
SRCAP
(R1196H)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
+2 more
GUncertain significance
SRCAP
(R966Q)
Single nucleotide variant
(missense variant)
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
+2 more
GUncertain significance
SRCAP
(P1491S)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
+2 more
GUncertain significance
SRCAP
(E3166V)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
+3 more
GConflicting classifications of pathogenicity
SRCAP
(T2997A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SRCAP
(P2451L)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
+2 more
GUncertain significance
SRCAP
Insertion
(inframe_insertion)
Floating-Harbor syndrome
+2 more
GUncertain significance
SRCAP
(Q537H)
Single nucleotide variant
(missense variant)
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
+3 more
GConflicting classifications of pathogenicity
SRCAP
(V1085A)
Single nucleotide variant
(missense variant)
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
+3 more
GConflicting classifications of pathogenicity
SRCAP
(T1530A)
Single nucleotide variant
(missense variant)
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
+3 more
GConflicting classifications of pathogenicity
SRCAP
(P1575S)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
+2 more
GUncertain significance
SRCAP
(R801H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SRCAP
Single nucleotide variant
(synonymous variant)
Floating-Harbor syndrome
+2 more
GLikely benign
SRCAP
(R2053W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SRCAP
(A1017V)
Single nucleotide variant
(missense variant)
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
+3 more
GConflicting classifications of pathogenicity
SRCAP
(S2802F)
Single nucleotide variant
(missense variant)
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
+3 more
GUncertain significance
SRCAP
(M1415fs)
Duplication
(frameshift variant)
Floating-Harbor syndrome
GUncertain significance
SRCAP
(R1871Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SRCAP
(V427M)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
+2 more
GUncertain significance
SRCAP
Single nucleotide variant
(synonymous variant)
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
+2 more
GBenign
SRCAP
(P2582A)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
GUncertain significance
SRCAP
(L1060R)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
GUncertain significance
SRCAP
(Q2407fs)
Duplication
(frameshift variant)
Floating-Harbor syndrome
GPathogenic
SRCAP
(G1761A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SRCAP
(R3077*)
Single nucleotide variant
(nonsense)
Floating-Harbor syndrome
GLikely pathogenic
SRCAP
(L1241F)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
GUncertain significance
SRCAP
(I106V)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
GUncertain significance
SRCAP
(R709W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SRCAP
(R318S)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
GUncertain significance
SRCAP
(P1938R)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
GUncertain significance
SRCAP
(T1369S)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
GUncertain significance
SRCAP
(G66S)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
GUncertain significance
SRCAP
(C477S)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
GUncertain significance
SRCAP
(E2397*)
Single nucleotide variant
(nonsense)
Floating-Harbor syndrome
GPathogenic
SRCAP
(D358G)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
+1 more
GUncertain significance
SRCAP
(Q2407*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SRCAP
(Q2665E)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
+1 more
GConflicting classifications of pathogenicity
SRCAP
(T1096N)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
GUncertain significance
SRCAP
(P2507L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
SRCAP
(E1902K)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
GUncertain significance
SRCAP
Single nucleotide variant
(synonymous variant)
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
+2 more
GLikely benign
Format
Items per page
Sort by
Choose Destination