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Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD15, ADAP2
+202 more
Copy number loss
See cases
GPathogenic
RHBDL3
(L31P)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
RHBDL3
(E36A)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
RHBDL3
(A78T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RHBDL3
(S100G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDL3
(R42H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDL3
(R108G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDL3
(R116H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDL3
(R117W +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDL3
(T150N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDL3
(G177D +3 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
RHBDL3
(S216F +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RHBDL3
(V187I +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RHBDL3
(A226V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RHBDL3
(A290D +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RHBDL3
(W198R +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDL3
(K296N +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDL3
(R260Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RHBDL3
(P292L +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDL3
(R228H +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RHBDL3
(H267Y +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RHBDL3
(P268L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RHBDL3
(S269L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RHBDL3
(F242S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RHBDL3
(G342D +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RHBDL3
(L357P +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RHBDL3
(W311C +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C17orf75, CDK5R1
+16 more
Copy number gain
not specified
GPathogenic
ADAP2, ATAD5
+28 more
Copy number loss
not specified
GPathogenic
ADAP2, ATAD5
+26 more
Copy number loss
not provided
GPathogenic
C17orf75, CDK5R1
+4 more
Copy number gain
not provided
GUncertain significance
AATF, ACACA
+66 more
Copy number loss
Chromosome 17q12 deletion syndrome
GPathogenic
ASIC2, C17orf75
+8 more
Copy number loss
not specified
GUncertain significance
LRRC37B, CDK5R1
+12 more
Copy number loss
Nanophthalmos 4
+2 more
GPathogenic
RHBDL3, RHOT1
Copy number gain
not provided
GUncertain significance
AATF, ABHD15
+201 more
Copy number gain
not provided
GPathogenic
ABHD15, ADAP2
+80 more
Copy number gain
not provided
GLikely pathogenic
MYO1D, PSMD11
+5 more
Copy number gain
not provided
GUncertain significance
LYRM9, MIR144
+72 more
Copy number loss
Mitogen-activated protein kinase kinase inhibitor response
Gdrug response
ASIC2, C17orf75
+18 more
Copy number loss
See cases
GPathogenic
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
COPRS, LRRC37B
+4 more
Copy number loss
See cases
GUncertain significance
RHBDL3, RHOT1
+6 more
Copy number loss
See cases
GUncertain significance
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