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Links from Gene

Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMEM101
(P155A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM101
(L144I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM101
(R138H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF18B, LPO
+196 more
Deletion
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
SLC4A1, DCAKD
+422 more
Copy number loss
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
LOC126862572, TMEM101
(I15F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMEM101
(R138C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862572, TMEM101
(G6R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862572, TMEM101
(K4N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862572, TMEM101
(L22P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD300LG, CFAP97D1
+29 more
Copy number gain
Anomalous pulmonary venous return
GUncertain significance
TMEM101
(L182F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM101
(S53L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862572, TMEM101
(A24V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862572, TMEM101
(G6S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862572, TMEM101
(C26Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862572, TMEM101
(A34T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862572, TMEM101
(I95N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862572, TMEM101
(G30C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ASB16, ATXN7L3
+9 more
Copy number gain
not provided
GUncertain significance
ARL4D, CD300LG
+13 more
Copy number gain
not provided
GUncertain significance
LOC126862572, TMEM101
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
AARSD1, AATF
+2032 more
Copy number gain
See cases
GPathogenic
ADAM11, ASB16
+86 more
Copy number loss
See cases
GPathogenic
ADAM11, ASB16
+104 more
Copy number loss
See cases
GPathogenic
LOC130060786, LOC130060787
+633 more
Copy number gain
See cases
GPathogenic
LOC126862582, LOC126862583
+1753 more
Copy number gain
See cases
GPathogenic
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