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Items: 1 to 100 of 436

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMOTL2, DNAJC13
+1343 more
Copy number gain
See cases
GPathogenic
ALCAM, BTLA
+637 more
Copy number loss
See cases
GPathogenic
CD200R1L, ILDR1
+681 more
Copy number loss
Chromosome 3q13.31 deletion syndrome
GPathogenic
BPESC1, BTLA
+2645 more
Copy number gain
See cases
GPathogenic
USF3, ZBTB20
+190 more
Copy number loss
See cases
GPathogenic
LOC129937351, LOC129937424
+570 more
Copy number loss
See cases
GPathogenic
ADCY5, ADPRH
+286 more
Copy number loss
See cases
GPathogenic
ADPRH, ARGFX
+199 more
Copy number loss
See cases
GPathogenic
ADPRH, ARHGAP31
+101 more
Copy number gain
See cases
GUncertain significance
LRRC58-DT, MIR198
+100 more
Copy number gain
See cases
GUncertain significance
GOLGB1, LOC129389118
+326 more
Copy number loss
See cases
GPathogenic
LOC126806792, LOC126806793
+291 more
Copy number loss
See cases
GPathogenic
ARHGAP31, LOC129937303
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
ARHGAP31, LOC129937303
Microsatellite
(5 prime UTR variant)
Adams-Oliver syndrome
GUncertain significance
ARHGAP31, LOC129937303
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
ARHGAP31
Indel
(5 prime UTR variant)
ARHGAP31-related condition
GUncertain significance
ARHGAP31
(K7E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ARHGAP31
(L10P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
(A18V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ARHGAP31
Deletion
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGAP31
Deletion
(intron variant)
not provided
GBenign
ARHGAP31
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 1
+1 more
GBenign
ARHGAP31
Deletion
(intron variant)
not provided
GBenign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
(K39R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
(I45V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
(H48Y)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 1
+1 more
GUncertain significance
ARHGAP31
(G49S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Insertion
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP31
(Y84H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP31
(T116M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGAP31
Microsatellite
(intron variant)
Adams-Oliver syndrome
GUncertain significance
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
ARHGAP31
(S120L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP31
(H121R)
Single nucleotide variant
(missense variant)
ARHGAP31-related condition
GUncertain significance
ARHGAP31
(E125del)
Microsatellite
(inframe_deletion)
Inborn genetic diseases
+1 more
GUncertain significance
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
ARHGAP31
(R130Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP31
(E137A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Deletion
(intron variant)
not provided
GBenign
ARHGAP31
Deletion
(intron variant)
not provided
GBenign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGAP31
Single nucleotide variant
(intron variant)
Adams-Oliver syndrome 1
+1 more
GBenign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
ARHGAP31
(R151Q)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
ARHGAP31
(A154V)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
ARHGAP31
(S158T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ARHGAP31
(S161T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ARHGAP31
(A167T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Duplication
(intron variant)
not provided
GBenign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ARHGAP31
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGAP31
(T187P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
(C189W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP31
(A197T)
Single nucleotide variant
(missense variant)
ARHGAP31-related condition
GUncertain significance
ARHGAP31
(R199Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
(V200I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGAP31
(Q201*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
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