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Items: 1 to 100 of 471

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ABHD8, ADGRE2
+695 more
Copy number gain
See cases
GPathogenic
ABHD8, AKAP8
+574 more
Copy number gain
See cases
GPathogenic
LOC130064154, LOC130064155
+625 more
Copy number gain
See cases
GPathogenic
CERS1, GDF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
CERS1, GDF1
(E368K)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+1 more
GUncertain significance
CERS1, GDF1
(V366L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
CERS1, GDF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
CERS1, GDF1
(M364I)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely pathogenic
CERS1, GDF1
(M364del)
Deletion
(3 prime UTR variant +1 more)
Right atrial isomerism
GPathogenic
CERS1, GDF1
(M364T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GPathogenic/Likely pathogenic
CERS1, GDF1
(D363H)
Single nucleotide variant
(3 prime UTR variant +1 more)
GDF1-related disorder
GUncertain significance
CERS1, GDF1
(R359Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CERS1, GDF1
(R359W)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CERS1, GDF1
(V356M)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CERS1, GDF1
Duplication
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CERS1, GDF1
(F349fs)
Deletion
(3 prime UTR variant +1 more)
Congenital heart defects, multiple types, 6
+1 more
GPathogenic/Likely pathogenic
CERS1, GDF1
(F350del)
Microsatellite
(3 prime UTR variant +1 more)
Visceral heterotaxy
+1 more
GUncertain significance
GDF1, CERS1
(L348P)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CERS1, GDF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
CERS1, GDF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
CERS1, GDF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
GDF1, CERS1
(P344S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CERS1, GDF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Progressive myoclonic epilepsy type 8
GLikely benign
CERS1, GDF1
(S343W)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CERS1, GDF1
(A340G)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CERS1, GDF1
(P339L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
CERS1, GDF1
(P339H)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CERS1, GDF1
+1 more
(C336W)
Single nucleotide variant
(3 prime UTR variant +1 more)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
CERS1, GDF1
(L334R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
CERS1, GDF1
(D333N)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital heart defects, multiple types, 6
GUncertain significance
CERS1, GDF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
GDF1, CERS1
(P329S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+2 more
GUncertain significance
CERS1, GDF1
(A326G)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
CERS1, GDF1
(A318T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely pathogenic
CERS1, GDF1
(P313L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
CERS1, GDF1
(P312fs)
Duplication
(3 prime UTR variant +1 more)
not provided
GPathogenic
CERS1, GDF1
(P312A)
Single nucleotide variant
(3 prime UTR variant +1 more)
GDF1-related disorder
GUncertain significance
CERS1, GDF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
CERS1, GDF1
(S309P)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
CERS1, GDF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
CERS1, GDF1
(V304fs)
Duplication
(3 prime UTR variant +1 more)
Right atrial isomerism
+1 more
GPathogenic/Likely pathogenic
CERS1, GDF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
GDF1, CERS1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CERS1, GDF1
(Q297H)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
GDF1, CERS1
(Q297*)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GPathogenic
CERS1, GDF1
(Y295N)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CERS1, GDF1
(A293V)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+1 more
GUncertain significance
CERS1, GDF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
CERS1, GDF1
Single nucleotide variant
(3 prime UTR variant +1 more)
GDF1-related disorder
GLikely benign
CERS1, GDF1
(W284*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital heart defects, multiple types, 6
GLikely pathogenic
CERS1, GDF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
CERS1, GDF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
CERS1, GDF1
(R277H)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CERS1, GDF1
(P257fs)
Deletion
(3 prime UTR variant +1 more)
not specified
GLikely pathogenic
CERS1, GDF1
(Y273H)
Single nucleotide variant
(3 prime UTR variant +1 more)
GDF1-related disorder
GUncertain significance
CERS1, GDF1
(P263fs)
Deletion
(3 prime UTR variant +1 more)
Inborn genetic diseases
GLikely pathogenic
CERS1, GDF1
(R271P)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CERS1, GDF1
(R271W)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CERS1, GDF1
(L259fs)
Deletion
(3 prime UTR variant +1 more)
Right atrial isomerism
+1 more
GLikely pathogenic
CERS1, GDF1
(C267Y)
Single nucleotide variant
(3 prime UTR variant +1 more)
GDF1-related disorder
GUncertain significance
CERS1, GDF1
(A266T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+1 more
GUncertain significance
CERS1, GDF1
(P263L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CERS1, GDF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
CERS1, GDF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CERS1, GDF1
(V258M)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
CERS1, GDF1
(E256G)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
GDF1, CERS1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CERS1, GDF1
(D254G)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
CERS1, GDF1
(D254A)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
CERS1, GDF1
(R253C)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
CERS1, GDF1
(L248fs)
Duplication
(3 prime UTR variant +1 more)
not provided
GPathogenic
CERS1, GDF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
CERS1, GDF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
CERS1, GDF1
(R229P)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CERS1, GDF1
+1 more
(C227*)
Single nucleotide variant
(3 prime UTR variant +1 more)
GDF1-RELATED DISORDERS
+3 more
GPathogenic/Likely pathogenic
CERS1, GDF1
(V194fs)
Deletion
(3 prime UTR variant +1 more)
not provided
GLikely pathogenic
CERS1, GDF1
(A223fs)
Duplication
(frameshift variant +1 more)
not provided
GPathogenic
CERS1, GDF1
(R222Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
GDF1-related disorder
GUncertain significance
CERS1, GDF1
(P221A)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
GDF1, CERS1
(R220S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
CERS1, GDF1
Microsatellite
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CERS1, GDF1
(A218E)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CERS1, GDF1
(L217V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital heart defects, multiple types, 6
+1 more
GUncertain significance
CERS1, GDF1
(L213F)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
GDF1, CERS1
(W209*)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GPathogenic
CERS1, GDF1
(A207V)
Indel
(3 prime UTR variant +1 more)
GDF1-related disorder
GUncertain significance
CERS1, GDF1
(W203*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
CERS1, GDF1
(G200D)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+3 more
GUncertain significance
CERS1, GDF1
(L199P)
Single nucleotide variant
(3 prime UTR variant +1 more)
Right atrial isomerism
+2 more
GUncertain significance
CERS1, GDF1
(A196G)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
CERS1, GDF1
(A196fs)
Duplication
(3 prime UTR variant +1 more)
Visceral heterotaxy
GPathogenic
CERS1, GDF1
(A196T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CERS1, GDF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
CERS1, GDF1
(P192L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
CERS1, GDF1
(G191A)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CERS1, GDF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
CERS1, GDF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
CERS1, GDF1
Single nucleotide variant
(3 prime UTR variant +1 more)
GDF1-related disorder
GLikely benign
CERS1, GDF1
(P180fs)
Deletion
(3 prime UTR variant +1 more)
Congenital heart defects, multiple types, 6
GUncertain significance
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