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Links from Gene

Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TIPIN
(Q35K)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
TIPIN
(S189F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIPIN
(R82K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TIPIN
(R71S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DIS3L, MAP2K1
+3 more
Copy number gain
not provided
GUncertain significance
TIPIN
(N270S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIPIN
(P42S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
TIPIN
(L171S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIPIN
(T233P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIPIN
(K93E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TIPIN
(F182S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIPIN
(I196T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIPIN
(S81P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AAGAB, C15orf61
+21 more
Duplication
Neuronal ceroid lipofuscinosis
GUncertain significance
CGNL1, MAPDA
+472 more
Duplication
Familial colorectal cancer
+1 more
GUncertain significance
MAP2K1, TIPIN
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
TIPIN, LOC130057338
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
LOC130057338, MAP2K1
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
PDIA3, PEAK1
+521 more
Duplication
not provided
GPathogenic
AAGAB, ABHD17C
+559 more
Copy number gain
See cases
GPathogenic
NOX5, NPAP1
+559 more
Copy number gain
See cases
GPathogenic
CHRFAM7A, CHRM5
+566 more
Copy number gain
See cases
GPathogenic
ALDH1A2, ALDH1A3
+444 more
Copy number gain
See cases
GPathogenic
WHAMM, CCNB2
+308 more
Copy number gain
not provided
GLikely pathogenic
TIPIN, MAP2K1
Copy number loss
See cases
GUncertain significance
AAGAB, ABHD17C
+278 more
Copy number gain
See cases
GPathogenic
LOC130057927, LOC130057928
+1764 more
Copy number gain
See cases
GPathogenic
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