U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 1790

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM19, ADAMTS2
+1166 more
Copy number gain
See cases
GPathogenic
ADAM19, ADAMTS2
+863 more
Copy number gain
See cases
GPathogenic
ADAMTS2, ARL10
+676 more
Copy number gain
See cases
GPathogenic
LOC129995246, LOC129995247
+622 more
Copy number gain
See cases
GPathogenic
LOC129995359, LOC129995360
+386 more
Copy number loss
See cases
GPathogenic
FAM153A, FAM153B
+176 more
Copy number gain
See cases
GPathogenic
ADAMTS2, ARL10
+292 more
Copy number gain
See cases
GPathogenic
ARL10, B4GALT7
+145 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+145 more
Copy number loss
See cases
GPathogenic
LOC129995374, LOC129995375
+136 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+142 more
Copy number loss
See cases
GPathogenic
ARL10, CDHR2
+129 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+141 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+137 more
Copy number gain
See cases
GPathogenic
ARL10, B4GALT7
+134 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+140 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+172 more
Copy number loss
See cases
GPathogenic
LOC129995352, LOC129995353
+65 more
Copy number loss
Sotos syndrome
GPathogenic
CDHR2, EIF4E1B
+71 more
Duplication
5q35 microduplication syndrome
GPathogenic
B4GALT7, CDHR2
+113 more
Copy number loss
See cases
GPathogenic
ADAMTS2, B4GALT7
+325 more
Copy number loss
See cases
GPathogenic
LMAN2, LOC121099716
+26 more
Copy number gain
See cases
GLikely pathogenic
LOC121740633, NSD1
Deletion
(intron variant)
Sotos syndrome
GUncertain significance
NSD1
Single nucleotide variant
(intron variant)
not provided
GBenign
NSD1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NSD1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC126807619, LOC129995362
+1 more
Deletion
Beckwith-Wiedemann syndrome
GPathogenic
LOC126807619, LOC129995362
+1 more
Deletion
Sotos syndrome
+1 more
GPathogenic
NSD1
Single nucleotide variant
(5 prime UTR variant)
not specified
+2 more
GConflicting classifications of pathogenicity
NSD1
(L7I)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(P8S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GLikely benign
NSD1
(R9I)
Single nucleotide variant
(missense variant)
Sotos syndrome
GLikely benign
NSD1
(R10K)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(C12R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NSD1
(L13M)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
NSD1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
NSD1
Single nucleotide variant
(5 prime UTR variant +1 more)
NSD1-related disorder
GLikely benign
NSD1
(P19L)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(V20L)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(P2L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
NSD1
(E26G)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GLikely benign
NSD1
(P31A)
Single nucleotide variant
(5 prime UTR variant +1 more)
Sotos syndrome
+1 more
GLikely benign
NSD1
(G33S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Sotos syndrome
GUncertain significance
NSD1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
NSD1
Single nucleotide variant
(synonymous variant +1 more)
Sotos syndrome
GUncertain significance
NSD1
(N38S)
Single nucleotide variant
(missense variant +1 more)
Sotos syndrome
GUncertain significance
NSD1
(T47S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NSD1
Single nucleotide variant
(synonymous variant +1 more)
Sotos syndrome
GLikely benign
NSD1
(M48V)
Single nucleotide variant
(missense variant +1 more)
Sotos syndrome
GConflicting classifications of pathogenicity
NSD1
(Q49*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GUncertain significance
NSD1
(S51P)
Single nucleotide variant
(missense variant +1 more)
Sotos syndrome
GLikely benign
NSD1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
NSD1
(Q58R)
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
NSD1
(S67fs)
Duplication
(frameshift variant +1 more)
Sotos syndrome
GLikely pathogenic
NSD1
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
NSD1
(S67T)
Single nucleotide variant
(missense variant +1 more)
Sotos syndrome
GUncertain significance
NSD1
(Y69*)
Single nucleotide variant
(nonsense +1 more)
Beckwith-Wiedemann syndrome
GPathogenic
NSD1
(I70S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
NSD1
Single nucleotide variant
(synonymous variant +1 more)
Sotos syndrome
GLikely benign
NSD1
(M81V)
Single nucleotide variant
(missense variant +1 more)
Sotos syndrome
+1 more
GConflicting classifications of pathogenicity
NSD1
(M81T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NSD1
(M81I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
NSD1
Single nucleotide variant
(synonymous variant +1 more)
Sotos syndrome
GLikely benign
NSD1
(D92N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NSD1
(F97Y)
Single nucleotide variant
(missense variant +1 more)
Sotos syndrome
GLikely benign
NSD1
(Q98L)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
NSD1
(A107T)
Single nucleotide variant
(missense variant +1 more)
NSD1-related disorder
GUncertain significance
NSD1
(I111V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
NSD1
(V112F)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
NSD1
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+2 more
GBenign/Likely benign
NSD1
(T114A)
Single nucleotide variant
(missense variant +1 more)
Sotos syndrome
+1 more
GConflicting classifications of pathogenicity
NSD1
(T114P)
Single nucleotide variant
(missense variant +1 more)
Sotos syndrome
GUncertain significance
NSD1
(L116V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NSD1
(P118A)
Single nucleotide variant
(missense variant +1 more)
Sotos syndrome
+1 more
GBenign/Likely benign
NSD1
(P118L)
Single nucleotide variant
(missense variant +1 more)
Sotos syndrome
GUncertain significance
NSD1
(K127N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
NSD1
(Q128R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NSD1
(C132Y)
Single nucleotide variant
(missense variant +1 more)
NSD1-related disorder
GUncertain significance
NSD1
(C132S)
Single nucleotide variant
(missense variant +1 more)
NSD1-related disorder
+2 more
GBenign/Likely benign
NSD1
(N133S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NSD1
Single nucleotide variant
(synonymous variant +1 more)
Sotos syndrome
GLikely benign
NSD1
Single nucleotide variant
(synonymous variant +1 more)
Sotos syndrome
+1 more
GConflicting classifications of pathogenicity
NSD1
(I146V)
Single nucleotide variant
(missense variant +1 more)
Sotos syndrome
+1 more
GBenign/Likely benign
NSD1
(I146M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NSD1
Single nucleotide variant
(synonymous variant +1 more)
Sotos syndrome
GLikely benign
NSD1
(H152Y)
Single nucleotide variant
(missense variant +1 more)
Sotos syndrome
GLikely benign
NSD1
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+4 more
GBenign/Likely benign
NSD1
(D161V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NSD1
(D163N)
Single nucleotide variant
(missense variant +1 more)
Sotos syndrome
GLikely benign
NSD1
(V164I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NSD1
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
NSD1
(T175I)
Single nucleotide variant
(missense variant +1 more)
Sotos syndrome
GUncertain significance
NSD1
(D177N)
Single nucleotide variant
(missense variant +1 more)
Sotos syndrome
GUncertain significance
NSD1
(D177G)
Single nucleotide variant
(missense variant +1 more)
Sotos syndrome
GLikely benign
NSD1
Single nucleotide variant
(synonymous variant +1 more)
Sotos syndrome
GLikely benign
NSD1
(E186V)
Single nucleotide variant
(missense variant +1 more)
Sotos syndrome
GUncertain significance
NSD1
(T187S)
Single nucleotide variant
(missense variant +1 more)
Sotos syndrome
GLikely benign
NSD1
Single nucleotide variant
(synonymous variant +1 more)
Sotos syndrome
GLikely benign
NSD1
(N190I)
Single nucleotide variant
(missense variant +1 more)
Sotos syndrome
GUncertain significance
NSD1
(Y195D)
Single nucleotide variant
(missense variant +1 more)
NSD1-related disorder
GUncertain significance
Format
Items per page
Sort by
Choose Destination