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Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIGA1, MIR101-1
+558 more
Copy number loss
See cases
GPathogenic
ADGRL2, ADGRL4
+241 more
Copy number loss
See cases
GPathogenic
ADGRL4, DNAJB4
+33 more
Copy number loss
See cases
GUncertain significance
DNAJB4
(R25*)
Single nucleotide variant
(nonsense +1 more)
DNAJB4-related disorder
GLikely benign
DNAJB4
(G2R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DNAJB4
(E18D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DNAJB4
Single nucleotide variant
(missense variant +1 more)
Congenital myopathy 21 with early respiratory failure
GPathogenic
DNAJB4
(P33L)
Single nucleotide variant
(missense variant +1 more)
DNAJB4-related disorder
GUncertain significance
DNAJB4
(E53K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DNAJB4
(R61G)
Single nucleotide variant
(missense variant +1 more)
Congenital myopathy 21 with early respiratory failure
GPathogenic
DNAJB4
(A76P +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DNAJB4
(G77R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DNAJB4
(G14S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DNAJB4
(R106S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DNAJB4
(S142F +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DNAJB4
(I120V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DNAJB4
(T138I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DNAJB4
(L147S +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital myopathy 21 with early respiratory failure
GPathogenic
DNAJB4
(G224R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DNAJB4
(P270S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DNAJB4
(K171* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital myopathy 21 with early respiratory failure
GPathogenic
DNAJB4
(G248R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DNAJB4
(R252I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DNAJB4
(D194* +2 more)
Duplication
(nonsense +1 more)
DNAJB4-related disorder
GUncertain significance
ACADM, ADGRL2
+52 more
Copy number loss
not provided
GLikely pathogenic
ADGRL4, DNAJB4
+5 more
Copy number gain
not provided
GUncertain significance
DNAJB4, FUBP1
+2 more
Copy number gain
not provided
GUncertain significance
MCOLN3, MIGA1
+97 more
Copy number loss
not specified
GPathogenic
MIGA1, NEXN
+6 more
Copy number gain
not provided
GUncertain significance
ADGRL4, DNAJB4
+8 more
Copy number gain
not provided
GUncertain significance
ADGRL4, DNAJB4
+8 more
Copy number gain
not provided
GUncertain significance
ACADM, ADGRL2
+65 more
Copy number loss
not provided
GPathogenic
ACADM, ADGRL2
+85 more
Deletion
not provided
Gnot provided
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
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, ADGRL2
+80 more
Copy number loss
See cases
GPathogenic
ACADM, ADGRL4
+24 more
Copy number gain
See cases
GUncertain significance
ACADM, ADGRL4
+78 more
Copy number loss
See cases
GPathogenic
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