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Links from Gene

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCAF4
(V1081G +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCAF4
(Q321E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCAF4, LOC130066536
(A3V)
Single nucleotide variant
(missense variant)
SCAF4-related disorder
GUncertain significance
SCAF4
Single nucleotide variant
(splice acceptor variant)
Fliedner-Zweier syndrome
GLikely pathogenic
SCAF4
Copy number loss
not provided
GUncertain significance
LOC130066536, SCAF4
(Q9R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130066536, SCAF4
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
SCAF4
(P789S +2 more)
Single nucleotide variant
not provided
GUncertain significance
SCAF4
(R445* +1 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
SCAF4
(A770fs +2 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
SCAF4
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
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