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Links from Gene

Items: 88

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMLN
(H71Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LMLN
(T131I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LMLN
(I168V)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ACAP2, APOD
+33 more
Copy number gain
not provided
GPathogenic
ABCC5, ABCF3
+136 more
Copy number gain
See cases
GPathogenic
LMLN
(R323Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LMLN
(E172G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LMLN
(R145W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LMLN
(R610Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LMLN
(D582V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LMLN
(V553I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LMLN
(C423G)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LMLN
(M399T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LMLN
(N369S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQCG, LMLN
+2 more
Copy number loss
not specified
GPathogenic
ABCC5, ABCF3
+145 more
Duplication
not provided
GPathogenic
MUC20, MUC4
+286 more
Duplication
not provided
GPathogenic
FYTTD1, IQCG
+27 more
Copy number loss
Diamond-Blackfan anemia 5
GPathogenic
LMLN
(I237V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LMLN
(R393G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LMLN
(P55S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LMLN
(G17D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LMLN
(G25A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LMLN
(R22C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LMLN
(Y240F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LMLN, LMLN-AS1
(C619S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LMLN
(P571R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LMLN
(A611T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LMLN
(R127Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LMLN
(R22G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LMLN
(T559S +1 more)
Single nucleotide variant
(missense variant +1 more)
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
BDH1, CEP19
+22 more
Copy number gain
not provided
GUncertain significance
ACAP2, APOD
+35 more
Copy number gain
Chromosome 3q29 microdeletion syndrome
GUncertain significance
ACAP2, APOD
+48 more
Copy number loss
not provided
GPathogenic
DLG1, PPP1R2
+33 more
Copy number gain
not provided
GPathogenic
FYTTD1, LMLN
+4 more
Copy number gain
not provided
GLikely benign
LMLN
Copy number loss
not provided
GUncertain significance
LMLN
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
LMLN
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LMLN
Single nucleotide variant
(intron variant)
not provided
GBenign
LMLN
Single nucleotide variant
(intron variant)
not provided
GBenign
FYTTD1, IQCG
+4 more
Copy number gain
not provided
GUncertain significance
FYTTD1, IQCG
+4 more
Copy number gain
not provided
GUncertain significance
GMNC, GP5
+62 more
Copy number gain
See cases
GPathogenic
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
IQCG, LMLN
+1 more
Copy number gain
not provided
GLikely benign
IQCG, LMLN
+1 more
Copy number gain
not provided
GLikely benign
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
IQCG, LMLN
+2 more
Copy number gain
See cases
GLikely benign
ABCC5, ABCF3
+198 more
Copy number gain
See cases
GPathogenic
BDH1, FYTTD1
+5 more
Copy number gain
See cases
GUncertain significance
LMLN
(G373C +1 more)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of prostate
GUncertain significance
LOC129938260, LOC129938261
+1064 more
Copy number gain
See cases
GPathogenic
TM4SF19-DYNLT2B, TMEM44
+313 more
Copy number gain
See cases
GPathogenic
LOC108281160, LOC108281177
+1247 more
Copy number gain
See cases
GPathogenic
BDH1, CEP19
+102 more
Copy number gain
See cases
GUncertain significance
ABCC5, ABCC5-AS1
+1245 more
Copy number gain
See cases
GPathogenic
IQCG, LMLN
+11 more
Copy number gain
See cases
GBenign
IQCG, LMLN
+5 more
Copy number gain
See cases
GLikely benign
LOC129938169, LOC129938170
+1318 more
Copy number gain
See cases
GPathogenic
LMLN, LMLN-AS1
+1 more
Copy number gain
See cases
GLikely benign
ZMAT3, ZNF639
+867 more
Copy number gain
See cases
GPathogenic
ACAP2, APOD
+273 more
Copy number gain
See cases
GPathogenic
LOC129938282, LOC129938283
+866 more
Copy number gain
See cases
GPathogenic
ACAP2, APOD
+337 more
Copy number gain
See cases
GPathogenic
BDH1, CEP19
+169 more
Copy number gain
See cases
GPathogenic
LOC129938077, LOC129938078
+1041 more
Copy number gain
See cases
GPathogenic
LMLN, LMLN-AS1
+1 more
Copy number gain
See cases
GBenign
IQCG, LMLN
+9 more
Copy number gain
See cases
GBenign
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
LMLN, LMLN-AS1
+1 more
Copy number gain
See cases
GBenign
IQCG, LMLN
+7 more
Copy number gain
See cases
GBenign
LMLN, LMLN-AS1
+1 more
Copy number gain
See cases
GBenign
BDH1, CEP19
+155 more
Copy number gain
See cases
GUncertain significance
LOC129938284, LOC129938285
+166 more
Copy number gain
See cases
GUncertain significance
RUBCN, SENP5
+264 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
MIR944, MUC20
+557 more
Copy number loss
See cases
GPathogenic
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