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Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SRCAP
(S21L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
SRCAP
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
SRCAP
(P264L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SRCAP
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SRCAP
(E407V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SRCAP
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
SRCAP
(S520N)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
SRCAP
(R858H)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
SRCAP
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
SRCAP
(T884I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SRCAP
(D934V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SRCAP
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
SRCAP
(R1016Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SRCAP
(S1033P)
Single nucleotide variant
(missense variant)
Floating-Harbor syndrome
+3 more
GBenign/Likely benign
SRCAP
(P1058S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
SRCAP
(T1101K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
SRCAP
(P1130S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
SRCAP
(P1162S)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
SRCAP
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SRCAP
(L1259F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SRCAP
(S1290G)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
SRCAP
(T1369A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SRCAP
(L1374F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SRCAP
(I1397V)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
SRCAP
Single nucleotide variant
(synonymous variant)
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
+3 more
GBenign
SRCAP
(S1452L)
Single nucleotide variant
(missense variant)
SRCAP-related condition
+4 more
GConflicting classifications of pathogenicity
SRCAP
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
SRCAP
(P1535A)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
SRCAP
(P1647L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
SRCAP
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
SRCAP
(A1807V)
Single nucleotide variant
(missense variant)
SRCAP-related condition
+2 more
GLikely benign
SRCAP
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
SRCAP
(S1844C)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
SRCAP
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
SRCAP
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
SRCAP
(E1902G)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
SRCAP
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
SRCAP
(Q2003H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SRCAP
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
SRCAP
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
SRCAP
Single nucleotide variant
(synonymous variant)
SRCAP-related condition
+1 more
GConflicting classifications of pathogenicity
SRCAP
(R2435*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
SRCAP
(R2444*)
Single nucleotide variant
(nonsense)
SRCAP-related condition
+6 more
GPathogenic
SRCAP
(S2524C)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
SRCAP
(S2575T)
Single nucleotide variant
(missense variant)
SRCAP-related condition
+1 more
GConflicting classifications of pathogenicity
SRCAP
(N2618S)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
SRCAP
(E2679K)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
SRCAP
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SRCAP
(R2794C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SRCAP
(G2844A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SRCAP
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SRCAP
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
SRCAP
Single nucleotide variant
(synonymous variant)
Floating-Harbor syndrome
+3 more
GBenign/Likely benign
SRCAP
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
SRCAP
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
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