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Items: 1 to 100 of 147

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057806, LOC130057807
+1763 more
Copy number gain
See cases
GPathogenic
ABHD17C, ABHD2
+1244 more
Copy number gain
See cases
GPathogenic
LOC130057831, LOC130057832
+664 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+630 more
Copy number gain
See cases
GPathogenic
LOC130057938, LOC130057939
+611 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+552 more
Copy number gain
See cases
GPathogenic
LOC121530602, LOC121530603
+517 more
Copy number gain
See cases
GPathogenic
LOC129390732, LOC129390733
+500 more
Copy number gain
See cases
GPathogenic
LOC126862240, LOC126862241
+311 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+422 more
Copy number gain
See cases
GPathogenic
MESP1, WDR93
(K454E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MESP1, WDR93
(A466T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MESP1, WDR93
(L512P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MESP1, WDR93
(E541K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MESP1, WDR93
(D562G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MESP1, WDR93
(P616S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MESP1, WDR93
(P588L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MESP1, WDR93
(Q611P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANPEP, LOC130057888
+7 more
Copy number loss
See cases
GUncertain significance
MESP1, WDR93
(Y627S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MESP1, WDR93
(R628Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MESP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
MESP1
(A249V)
Single nucleotide variant
(missense variant)
MESP1-related disorder
GUncertain significance
MESP1
(L248P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MESP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MESP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MESP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC130057888, MESP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LOC130057888, MESP1
(F223L)
Single nucleotide variant
(missense variant)
MESP1-related disorder
+1 more
GBenign
LOC130057888, MESP1
(A221S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MESP1, LOC130057888
Single nucleotide variant
(synonymous variant)
MESP1-related disorder
+1 more
GBenign
LOC130057888, MESP1
(R217H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
LOC130057888, MESP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130057888, MESP1
(G209R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130057888, MESP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130057888, MESP1
(G190C)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LOC130057888, MESP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130057888, MESP1
(R187L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC130057888, MESP1
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
LOC130057888, MESP1
(T176S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
LOC130057888, MESP1
(M174V)
Single nucleotide variant
(missense variant)
MESP1-related disorder
+1 more
GBenign
LOC130057888, MESP1
(D168G)
Single nucleotide variant
(missense variant)
MESP1-related disorder
+1 more
GBenign
LOC130057888, MESP1
(P167T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130057888, MESP1
(P167A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC130057888, MESP1
(A157S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130057888, MESP1
Single nucleotide variant
(synonymous variant)
MESP1-related disorder
GLikely benign
LOC130057888, MESP1
(Q153H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130057888, MESP1
(C151W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
LOC130057888, MESP1
(C151G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130057888, MESP1
(R150Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130057888, MESP1
(E145D)
Single nucleotide variant
(missense variant)
MESP1-related disorder
+1 more
GBenign
LOC130057888, MESP1
(S143T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MESP1
(I133F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MESP1
(T125M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MESP1
(E124*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
MESP1
(E124Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130057889, MESP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130057889, MESP1
(S119I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130057889, MESP1
(A116V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130057889, MESP1
(A116P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130057889, MESP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
LOC130057889, MESP1
(A114T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130057889, MESP1
(V113A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130057889, MESP1
(P111L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130057889, MESP1
(P111Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130057889, MESP1
(P111A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130057889, MESP1
(P110L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130057889, MESP1
(E104*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
LOC130057889, MESP1
(H103Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130057889, MESP1
(H103P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130057889, MESP1
(A101S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130057889, MESP1
(A99V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130057889, MESP1
(E91fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
LOC130057889, MESP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130057889, MESP1
(A87T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130057889, MESP1
(S86R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130057889, MESP1
(R84G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130057889, MESP1
(Q83P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130057889, MESP1
(G82R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC130057889, MESP1
(S81R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130057889, MESP1
(S81G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
LOC130057889, MESP1
(L79P)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LOC130057889, MESP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130057889, MESP1
(G73A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130057889, MESP1
(G73D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
LOC130057889, MESP1
(G73R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130057889, MESP1
(G70D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130057889, MESP1
(V69A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130057889, MESP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LOC130057889, MESP1
(P67R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130057889, MESP1
(P64L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MESP1, LOC130057889
(L61R)
Single nucleotide variant
(missense variant)
MESP1-related disorder
+1 more
GBenign
LOC130057889, MESP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LOC130057889, MESP1
(R57W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130057889, MESP1
Indel
(inframe_indel)
not provided
GUncertain significance
LOC130057889, MESP1
Insertion
(inframe_insertion)
not provided
GUncertain significance
LOC130057889, MESP1
Insertion
(inframe_insertion)
not provided
GBenign
LOC130057889, MESP1
(S54fs)
Duplication
(frameshift variant)
MESP1-related disorder
GBenign
LOC130057889, MESP1
(A53P)
Single nucleotide variant
(missense variant)
MESP1-related disorder
+1 more
GBenign
LOC130057889, MESP1
(A53fs)
Insertion
(frameshift variant)
not specified
GBenign
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