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Links from Gene

Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NREP-AS1, NREP
(K32I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NREP, NREP-AS1
(R23S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NREP, NREP-AS1
(R21S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NREP, STARD4-AS1
(R68G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NREP, STARD4-AS1
(F16L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NREP
Copy number loss
not specified
GUncertain significance
NREP, STARD4-AS1
(D42N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NREP, NREP-AS1
(R12Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NREP, STARD4-AS1
(R38H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NREP, STARD4-AS1
(A81P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NREP, STARD4-AS1
(L51P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NREP, STARD4-AS1
(F101L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NREP, STARD4-AS1
(A90T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NREP
Copy number loss
not provided
GUncertain significance
NREP
Copy number loss
not provided
GUncertain significance
NREP
Copy number loss
VATER association
GLikely benign
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