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Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129389216, LOC129389217
+757 more
Copy number gain
See cases
GPathogenic
ABCG2, ABRAXAS1
+338 more
Copy number loss
Chromosome 4q21 deletion syndrome
GPathogenic
ABCG2, ABRAXAS1
+335 more
Copy number loss
See cases
GPathogenic
LOC129992850, LOC129992851
+123 more
Copy number loss
See cases
GPathogenic
PDHA2
(I6F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(R8S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(V9M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(A18V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(V21E)
Single nucleotide variant
(missense variant)
not provided
GBenign
PDHA2
(A32V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(G101R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(G105S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(Y116C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(R125W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(E186K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(T190A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(T190P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(I202V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(N222D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(M227V)
Single nucleotide variant
(missense variant)
Spermatogenic failure 70
+2 more
GPathogenic
PDHA2
(P248S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(R286P)
Single nucleotide variant
(missense variant)
not provided
GBenign
PDHA2
(G289A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(A347G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(S371T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDHA2
(V387F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA18, SPATA4
+537 more
Copy number gain
not provided
GPathogenic
BMPR1B, PDHA2
+1 more
Copy number loss
not provided
GUncertain significance
PDHA2
Copy number loss
not provided
GUncertain significance
ADH1A, ADH1B
+55 more
Copy number gain
not provided
GLikely pathogenic
AASDH, ABCG2
+359 more
Copy number gain
not provided
GPathogenic
RAP1GDS1, UNC5C
+26 more
Copy number loss
not provided
GLikely pathogenic
PDHA2, UNC5C
Copy number loss
See cases
GUncertain significance
CCSER1, UNC5C
+11 more
Copy number loss
not provided
GPathogenic
ATOH1, BMPR1B
+12 more
Copy number loss
See cases
GLikely pathogenic
AADAT, ABCE1
+314 more
Copy number gain
See cases
GPathogenic
ADH1A, ADH1B
+30 more
Copy number loss
See cases
GPathogenic
C4orf51, CABS1
+745 more
Copy number gain
See cases
GPathogenic
NAA11, NAA15
+745 more
Copy number gain
See cases
GPathogenic
HELT, HERC3
+744 more
Copy number gain
See cases
GPathogenic
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