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Items: 35

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
LOC129937605, LOC129937606
+484 more
Copy number gain
See cases
GUncertain significance
LOC129937518, LOC129937519
+248 more
Copy number loss
See cases
GLikely pathogenic
TMCC1
(R457P +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMCC1
(A457T +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC123038181, TMCC1
(E367D +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMCC1
(R297Q +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMCC1
(E285K +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMCC1
(L139V +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMCC1
(F135S +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMCC1
(A251T +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMCC1
(R143W +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMCC1
(D257N +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMCC1
(R131Q +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMCC1
(E21D +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
A4GNT, ACAD11
+282 more
Copy number loss
See cases
GPathogenic
A4GNT, ACAD11
+345 more
Copy number loss
See cases
GPathogenic
TMCC1
(S165G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
TMCC1
(M149T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMCC1
(P113S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TMCC1
(A88P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMCC1
(R62S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMCC1
(A22T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMCC1
(P3T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALG1L2, COL6A5
+17 more
Copy number loss
See cases
GUncertain significance
ALG1L2, TMCC1
+1 more
Copy number gain
not provided
GUncertain significance
ABTB1, ACAD9
+38 more
Duplication
Deafness-lymphedema-leukemia syndrome
+1 more
GUncertain significance
A4GNT, AADAC
+303 more
Copy number gain
not provided
GPathogenic
ABTB1, ACAD11
+109 more
Deletion
Alkaptonuria
GPathogenic
ABTB1, ACAD9
+59 more
Deletion
Deafness-lymphedema-leukemia syndrome
+1 more
GPathogenic
ACAD11, ACAD9
+61 more
Deletion
Deafness-lymphedema-leukemia syndrome
+1 more
GPathogenic
ALG1L2, CFAP92
+17 more
Copy number loss
not provided
GUncertain significance
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
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