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Items: 1 to 100 of 115

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATAD1, ACTA2
+151 more
Copy number gain
See cases
GPathogenic
ACTA2, ACTA2-AS1
+21 more
Copy number gain
See cases
GUncertain significance
LIPN
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPN
(I12T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPN
(N17D)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LIPN
(G20*)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
LIPN
(L22V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPN
Single nucleotide variant
(splice donor variant)
not specified
GUncertain significance
LIPN
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LIPN
Microsatellite
(intron variant)
not provided
GBenign
LIPN
Microsatellite
(intron variant)
not provided
GBenign
LIPN
Microsatellite
(intron variant)
not provided
GBenign
LIPN
Microsatellite
(intron variant)
not provided
GBenign
LIPN
Deletion
(intron variant)
not provided
GBenign
LIPN
Deletion
(intron variant)
not provided
GBenign
LIPN
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPN
Microsatellite
(intron variant)
not provided
GBenign
LIPN
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPN
(S37G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPN
(S37N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPN
(Y50C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPN
(Y58C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPN
(S74R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LIPN
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPN
(Y82*)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
LIPN
(Y98F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPN
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LIPN
(G101R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPN
(G101fs)
Deletion
(frameshift variant)
not specified
+1 more
GLikely benign
LIPN
(L103P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPN
(D109N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPN
(Y112F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPN
(V114I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPN
(S119C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPN
Single nucleotide variant
(synonymous variant)
LIPN-related disorder
+1 more
GLikely benign
LIPN
(S132L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
LIPN
(E133fs)
Microsatellite
(frameshift variant)
Lamellar ichthyosis
GPathogenic
LIPN
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPN
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPN
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPN
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPN
(Y149C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPN
(E165D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPN
(L174V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPN
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
LIPN
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPN
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPN
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LIPN
(G200D)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
LIPN
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LIPN
(G228A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPN
(D236E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPN
(T239A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LIPN
(T244N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
LIPN
(C247Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPN
(L252F)
Single nucleotide variant
(missense variant)
not provided
GBenign
LIPN
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LIPN
(E258K)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
LIPN
(F259I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPN
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPN
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPN
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPN
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPN
(R275Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LIPN
Single nucleotide variant
(synonymous variant)
LIPN-related disorder
+1 more
GBenign/Likely benign
LIPN
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPN
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPN
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPN
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPN
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LIPN
(N320K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPN
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPN
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPN
Single nucleotide variant
(intron variant)
not provided
GBenign
LIPN
Single nucleotide variant
(intron variant)
LIPN-related disorder
GLikely benign
LIPN
(K333N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPN
(H343Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPN
(D344N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPN
(V347I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
LIPN
(P349S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPN
(R354S)
Single nucleotide variant
(missense variant)
not provided
GBenign
LIPN
(Y364*)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
LIPN
(L367R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPN
(D370Y)
Single nucleotide variant
(missense variant)
not provided
GBenign
LIPN
(W371*)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
LIPN
(V377F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LIPN
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LIPN
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
ACTA2, ANKRD1
+24 more
Copy number gain
not specified
GUncertain significance
ACTA2, ADIRF
+46 more
Copy number loss
not specified
GPathogenic
RRP12, RTKN2
+332 more
Copy number gain
not provided
GPathogenic
MTG1, NPS
+679 more
Copy number gain
Distal trisomy 10q
GPathogenic
A1CF, ABCC2
+670 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
LIPF, ATAD1
+6 more
Deletion
PTEN hamartoma tumor syndrome
GPathogenic
ACTA2, ANKRD1
+46 more
Copy number loss
not provided
GPathogenic
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