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Items: 1 to 100 of 142

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
LOC130009126, LOC130009127
+906 more
Copy number gain
See cases
GPathogenic
LOC130009192, LOC130009193
+892 more
Copy number gain
See cases
GPathogenic
LOC132090050, LOC132090051
+786 more
Copy number gain
See cases
GPathogenic
AACS, ABCB9
+663 more
Copy number gain
See cases
GPathogenic
AACS, ATP6V0A2
+292 more
Copy number loss
See cases
GPathogenic
AACS, ADGRD1
+412 more
Copy number gain
See cases
GPathogenic
AACS, ADGRD1
+408 more
Copy number gain
See cases
GPathogenic
ADGRD1, ADGRD1-AS1
+266 more
Copy number gain
See cases
GPathogenic
LINC00507, LINC00508
+22 more
Copy number gain
See cases
GUncertain significance
LINC00507, LINC00508
+13 more
Copy number gain
See cases
GUncertain significance
GLT1D1, LINC00507
+43 more
Copy number gain
See cases
GUncertain significance
TMEM132C
(G5D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(G14R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(I19M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(S43F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(P27T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(E59D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(R53W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(N76S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(M93R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(L114F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(N123S +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TMEM132C
(K104M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(R117Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(R124W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(I153V +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TMEM132C
(R186W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(T189M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
TMEM132C
(M198I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(P221A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(P201L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(V232M +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
TMEM132C
(A231T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(Q267R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TMEM132C
(A281T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(R287C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(P300T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(P280S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(D300G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLT1D1, LOC100128276
+30 more
Copy number gain
See cases
GUncertain significance
GLT1D1, LOC100128276
+28 more
Copy number gain
See cases
GUncertain significance
TMEM132C
(G331W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(N313K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(R340H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(R343W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(V347I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(G334S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(G355R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(A343T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TMEM132C
(V383L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(I369T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(R389Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(A396V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(T437A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(V452M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(A484V +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TMEM132C
(T509I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(V501M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(R525Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(R535H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(G569S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(V561I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(A570T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(G591S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(G591R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(P576L +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TMEM132C
(R610Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(V640M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(L670F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(P664H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(A671V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(R683W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(S701C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(V725M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(R751C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(R751P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(W735R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(V757I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(R750G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(K763R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(V772I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TMEM132C
(V775I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TMEM132C
(G800R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(G789S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(R825W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(V826M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(R848C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(E850Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(I890T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(D871V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(V899M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(G905R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(D892E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(P897L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(D950N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM132C
(W951C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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