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Items: 77

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADM, ACOT11
+570 more
Copy number gain
See cases
GPathogenic
LOC111501769, LOC112590812
+339 more
Copy number loss
See cases
GPathogenic
MIGA1, MIR101-1
+558 more
Copy number loss
See cases
GPathogenic
AK4, ALG6
+276 more
Copy number loss
See cases
GPathogenic
ACADM, AK4
+331 more
Copy number loss
See cases
GPathogenic
DEPDC1, DEPDC1-AS1
+270 more
Copy number loss
See cases
GPathogenic
LOC122094841, LOC122094842
+253 more
Copy number loss
See cases
GPathogenic
AK4, ANKRD13C
+210 more
Copy number gain
See cases
GPathogenic
ACADM, ANKRD13C
+165 more
Copy number loss
See cases
GPathogenic
ACADM, AK5
+188 more
Duplication
not specified
GUncertain significance
ANKRD13C, ANKRD13C-DT
+80 more
Copy number loss
See cases
GPathogenic
GNG12-AS1, WLS
(F518fs)
Deletion
(non-coding transcript variant +1 more)
not provided
GBenign
WLS, GNG12-AS1
(R445C +1 more)
Single nucleotide variant
(missense variant +1 more)
WLS syndrome
GLikely pathogenic
GNG12-AS1, WLS
(I440T +1 more)
Single nucleotide variant
(missense variant +1 more)
WLS syndrome
GLikely pathogenic
GNG12-AS1, WLS
(N414S +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GNG12-AS1, WLS
(E501Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
(Y499C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
(M398I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
(Y482H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
(Y387C +2 more)
Single nucleotide variant
(missense variant)
WLS syndrome
GPathogenic
GNG12-AS1, WLS
(A381S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
(T365M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
Single nucleotide variant
(intron variant)
WLS-related disorder
GUncertain significance
GNG12-AS1, WLS
(V452I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
(K342R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
(R403Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
(R403W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
(Y301C +2 more)
Single nucleotide variant
(missense variant)
WLS syndrome
GPathogenic
GNG12-AS1, WLS
(C390G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
(C386S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
(V382M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
(E319K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
(F216L +2 more)
Single nucleotide variant
(missense variant)
Zaki syndrome
GUncertain significance
GNG12-AS1, WLS
(I304V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
(K266Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
(T151M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
(F149L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
(W143C +2 more)
Single nucleotide variant
(missense variant)
Zaki syndrome
GUncertain significance
GNG12-AS1, WLS
(R129Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
(P200L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
(R109W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
(H192Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
(H192Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
(M185T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
(P79S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
Single nucleotide variant
(intron variant)
WLS-related disorder
GLikely benign
GNG12-AS1, WLS
(M60I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
(E145K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
Single nucleotide variant
(synonymous variant)
Zaki syndrome
GBenign
GNG12-AS1, WLS
(A142T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
(D133Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
(M43T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNG12-AS1, WLS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GNG12-AS1, WLS
(I83T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GNG12-AS1, WLS
(D74G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GNG12-AS1, WLS
Duplication
(nonsense +1 more)
WLS-related disorder
GUncertain significance
GNG12-AS1, WLS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GNG12-AS1, WLS
(R52H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GNG12-AS1, WLS
(T41M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
WLS
(I35T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WLS
(G33A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WLS
(M9V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCOLN3, MIGA1
+97 more
Copy number loss
not specified
GPathogenic
SGIP1, SLC35D1
+23 more
Copy number gain
not specified
GUncertain significance
DEPDC1, DIRAS3
+2 more
Copy number loss
not provided
GUncertain significance
SERBP1, GADD45A
+3 more
Copy number gain
not provided
GUncertain significance
ACADM, ANKRD13C
+39 more
Copy number loss
not provided
GPathogenic
ACADM, ADGRL2
+65 more
Copy number loss
not provided
GPathogenic
ACADM, ADGRL2
+85 more
Deletion
not provided
Gnot provided
ROR1, RPE65
+53 more
Deletion
Intellectual disability, severe
GPathogenic
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
AK4, ALG6
+46 more
Copy number gain
not provided
GPathogenic
ACADM, ADGRL2
+94 more
Copy number loss
See cases
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
ACADM, ADGRL4
+78 more
Copy number loss
See cases
GPathogenic
WLS
(M233T +2 more)
Single nucleotide variant
(missense variant)
Zaki syndrome
GUncertain significance
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