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Links from Gene

Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLNS1A
(D166H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLNS1A
(T152A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLNS1A
(D158G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLNS1A
(I94M +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLNS1A
(A169S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLNS1A
(S55A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLNS1A
(E97Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLNS1A
(Y118C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLNS1A
(H176L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLNS1A
(E57G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AAMDC, ALG8
+11 more
Copy number gain
not provided
GUncertain significance
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
AQP11, CLNS1A
+1 more
Copy number gain
not provided
GUncertain significance
AAMDC, AASDHPPT
+261 more
Copy number gain
not provided
GPathogenic
PAK1, AQP11
+5 more
Copy number gain
not provided
GUncertain significance
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
LOC130006570, LOC130006571
+474 more
Copy number loss
See cases
GPathogenic
AAMDC, ACER3
+355 more
Copy number loss
See cases
GPathogenic
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