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Links from Gene

Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIP4K2C
(I133V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PIP4K2C
(G21C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP4K2C
(S63G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDR9C7, TSPAN31
+51 more
Duplication
Cataract 15 multiple types
+3 more
GUncertain significance
PIP4K2C
(D241N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP4K2C
(F108L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP4K2C
(P357L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP4K2C
(S4F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGAP2, ARHGAP9
+45 more
Copy number loss
not provided
GLikely pathogenic
PIP4K2C
(Y354S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF25, B4GALNT1
+3 more
Duplication
Spastic paraplegia
GUncertain significance
AGAP2, ARHGAP9
+27 more
Duplication
Familial melanoma
GUncertain significance
PIP4K2C
(V38E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP4K2C
(R210C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP4K2C
(G263A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP4K2C
(G293R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP4K2C
(L236M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIP4K2C
(D75G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGAP2, ARHGAP9
+27 more
Copy number loss
not provided
GLikely pathogenic
AGAP2, ARHGEF25
+17 more
Duplication
not provided
GUncertain significance
AGAP2, ARHGAP9
+31 more
Copy number loss
not provided
GLikely pathogenic
AGAP2, ANKRD52
+105 more
Copy number gain
not provided
GPathogenic
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
AGAP2, AGAP2-AS1
+162 more
Copy number loss
See cases
GPathogenic
AGAP2, AGAP2-AS1
+199 more
Copy number loss
See cases
GPathogenic
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