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Items: 1 to 100 of 148

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRV1, ALDH7A1
+682 more
Copy number loss
See cases
GPathogenic
ADAMTS19, ADAMTS19-AS1
+688 more
Copy number loss
See cases
GPathogenic
EPB41L4A-AS1, EPB41L4A-DT
+495 more
Copy number loss
See cases
GPathogenic
APC, ARB2A
+342 more
Copy number loss
See cases
GPathogenic
TSSK1B, WDR36
+275 more
Copy number gain
See cases
GPathogenic
LOC126807477, LOC126807478
+180 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
LOC129994315, LOC129994316
+230 more
Copy number loss
See cases
GPathogenic
AP3S1, APC
+340 more
Copy number loss
See cases
GPathogenic
AP3S1, APC
+186 more
Copy number loss
See cases
GPathogenic
ADAMTS19, ADAMTS19-AS1
+377 more
Copy number loss
See cases
GPathogenic
ALDH7A1, AP3S1
+317 more
Copy number loss
See cases
GPathogenic
AP3S1, APC
+119 more
Copy number loss
See cases
GPathogenic
MCC
(E799G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(M984T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCC
(K789R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(V762M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(S751C +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
MCC
(L744S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(S742N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(E739G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(R918H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MCC
(F723L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(A911S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(E906K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(L710R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(E709K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(A698V +1 more)
Single nucleotide variant
(missense variant)
Carcinoma of colon
GPathogenic
MCC
(K695M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(R843Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(T652M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(A835D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(M619L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MCC
(E566G +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MCC
(E566K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MCC
(E560K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(S733F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(V720M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(G715R +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
MCC
(R506Q +1 more)
Single nucleotide variant
(missense variant)
Carcinoma of colon
GPathogenic
MCC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MCC
(E453K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
Insertion
(intron variant)
not provided
GBenign
MCC
(L447M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
MCC
(S426N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(N414I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
MCC
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC126807478, MCC
(E390K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126807478, MCC
(Q559P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
Single nucleotide variant
(intron variant)
not provided
GBenign
MCC
(E350D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCC
(R534Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(A324T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MCC
(R297H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(S294R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(R272Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(R408Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(E377K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(V375M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(G365V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(M342V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(E332D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(T326N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(S310N +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MCC
(L117F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(D108V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MCC
(I272V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(E80G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(R267H +1 more)
Single nucleotide variant
(missense variant)
Malignant tumor of prostate
GUncertain significance
MCC
(T264M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(R263Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(H67Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(H252Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(Q250H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(Q250R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(E249K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126807479, MCC
Copy number loss
See cases
GUncertain significance
MCC
(N208S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(A183T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MCC
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MCC
(T132M)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MCC
(C119S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(L111V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(V101A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(M98K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(A74T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC
(N58K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCC, TSSK1B
(P357S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MCC, TSSK1B
(S339L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TSSK1B, MCC
(Q338E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MCC, TSSK1B
(T299N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MCC, TSSK1B
(L297F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MCC, TSSK1B
(R292Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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