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Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDIA5, PHLDB2
+1344 more
Copy number gain
See cases
GPathogenic
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
LOC129937460, LOC129937461
+571 more
Copy number loss
See cases
GPathogenic
ADCY5, ADPRH
+326 more
Copy number loss
See cases
GPathogenic
LOC129937447, LOC129937448
+214 more
Copy number loss
See cases
GPathogenic
LOC129937605, LOC129937606
+484 more
Copy number gain
See cases
GUncertain significance
ALDH1L1, ALDH1L1-AS2
+25 more
Copy number gain
See cases
GUncertain significance
CHST13
(C6R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHST13
(C15S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHST13
(P32R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C3orf22, CHST13
(S50R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C3orf22, CHST13
(Q72R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C3orf22, CHST13
(R97L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C3orf22, CHST13
(H98Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C3orf22, CHST13
(V112E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C3orf22, CHST13
(A126E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C3orf22, CHST13
(G129R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C3orf22, CHST13
(G129S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C3orf22, CHST13
(R136P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C3orf22, CHST13
(N161K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C3orf22, CHST13
(R190G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C3orf22, CHST13
(P191L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C3orf22, CHST13
(R199H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C3orf22, CHST13
(A202P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C3orf22, CHST13
(R203L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C3orf22, CHST13
(L208R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C3orf22, CHST13
(R211H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C3orf22, CHST13
(R224C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C3orf22, CHST13
(A250S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C3orf22, CHST13
(G290R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C3orf22, CHST13
(R317G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C3orf22, CHST13
(D321N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C3orf22, CHST13
(K324E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C3orf22, CHST13
(N331S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C3orf22, CHST13
(S336F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABTB1, ALDH1L1
+26 more
Copy number loss
not specified
GUncertain significance
C3orf22, CHCHD6
+5 more
Copy number gain
not provided
GUncertain significance
A4GNT, AADAC
+303 more
Copy number gain
not provided
GPathogenic
ALDH1L1, C3orf22
+12 more
Copy number gain
not specified
GUncertain significance
ABTB1, ACAD11
+109 more
Deletion
Alkaptonuria
GPathogenic
ABTB1, ACAD9
+59 more
Deletion
Deafness-lymphedema-leukemia syndrome
+1 more
GPathogenic
ABTB1, ADCY5
+69 more
Deletion
Deafness-lymphedema-leukemia syndrome
+1 more
GPathogenic
ALDH1L1, C3orf22
+19 more
Copy number loss
not provided
GLikely pathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
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