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Links from Gene

Items: 74

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129938172, MB21D2
(S13F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5, ABCF3
+136 more
Copy number gain
See cases
GPathogenic
MB21D2
(I171L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MB21D2
(I158V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MB21D2
(R110W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MB21D2
(Y108C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MB21D2
(M69R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MB21D2
(P466L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MB21D2
(R398W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC50, FGF12
+5 more
Copy number loss
not specified
GUncertain significance
ABCC5, ABCF3
+145 more
Duplication
not provided
GPathogenic
MUC20, MUC4
+286 more
Duplication
not provided
GPathogenic
MB21D2
(D478N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MB21D2
(R110Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MB21D2
(L150R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MB21D2
(V393G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MB21D2
(K126E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129938172, MB21D2
(A12T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MB21D2
(R404C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MB21D2
(K457E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MB21D2
(I327V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MB21D2
(E409A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MB21D2
(V98L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MB21D2
(N18I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MB21D2
(N18S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MB21D2
(L359R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MB21D2
(L359V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MB21D2
(M336I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MB21D2
(S405L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MB21D2
(Y51C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MB21D2
(M69L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MB21D2
(R333W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MB21D2
(R151W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MB21D2
(E35K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC50, MELTF
+155 more
Copy number gain
Isolated anorectal malformation
GLikely pathogenic
ABCC5, ABCF3
+118 more
Copy number gain
See cases
GPathogenic
ATP13A3, ATP13A4
+11 more
Copy number loss
not specified
GUncertain significance
ACAP2, APOD
+48 more
Copy number loss
not provided
GPathogenic
OPA1, OSTN
+56 more
Copy number loss
3q28q29 deletion syndrome
GPathogenic
MB21D2, FGF12
Copy number gain
not provided
GLikely benign
FGF12, MB21D2
Copy number gain
not provided
GUncertain significance
FGF12, MB21D2
Copy number gain
not provided
GUncertain significance
FGF12, MB21D2
Copy number loss
not provided
GUncertain significance
GMNC, GP5
+62 more
Copy number gain
See cases
GPathogenic
FGF12, MB21D2
Copy number gain
not provided
GUncertain significance
MB21D2, FGF12
Copy number gain
not provided
GUncertain significance
MB21D2, MUC4
+48 more
Copy number gain
not provided
GPathogenic
TMEM44, GP5
+62 more
Copy number gain
not provided
GPathogenic
PCYT1A, TNK2-AS1
+77 more
Copy number gain
not provided
GPathogenic
FYTTD1, FAM43A
+103 more
Copy number gain
not provided
GPathogenic
PPP1R2, TBCCD1
+126 more
Copy number gain
not provided
GPathogenic
ATP13A4, ATP13A4-AS1
+180 more
Deletion
Schizophrenia
GLikely pathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCF3
+198 more
Copy number gain
See cases
GPathogenic
OPA1, PLAAT1
+4 more
Copy number gain
See cases
GUncertain significance
MB21D2, PLAAT1
+2 more
Copy number loss
See cases
GUncertain significance
AADAC, AADACL2
+220 more
Copy number gain
See cases
GPathogenic
LOC129938260, LOC129938261
+1064 more
Copy number gain
See cases
GPathogenic
LOC108281160, LOC108281177
+1247 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+1245 more
Copy number gain
See cases
GPathogenic
LOC129938169, LOC129938170
+1318 more
Copy number gain
See cases
GPathogenic
ZMAT3, ZNF639
+867 more
Copy number gain
See cases
GPathogenic
LOC129938282, LOC129938283
+866 more
Copy number gain
See cases
GPathogenic
ADIPOQ, ADIPOQ-AS1
+237 more
Copy number loss
See cases
GPathogenic
ACAP2, APOD
+337 more
Copy number gain
See cases
GPathogenic
LOC129938077, LOC129938078
+1041 more
Copy number gain
See cases
GPathogenic
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
LOC126806930, LOC126806931
+375 more
Copy number gain
See cases
GPathogenic
ACAP2, APOD
+411 more
Copy number gain
See cases
GPathogenic
LOC132088897, LOC132088898
+1201 more
Copy number gain
See cases
GPathogenic
LOC123453201, LOC123453202
+1450 more
Copy number gain
See cases
GPathogenic
ATP13A3, ATP13A3-DT
+226 more
Copy number loss
See cases
GPathogenic
MIR944, MUC20
+557 more
Copy number loss
See cases
GPathogenic
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