U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDIA5, PHLDB2
+1344 more
Copy number gain
See cases
GPathogenic
TRAT1, TRMT10C
+638 more
Copy number loss
See cases
GPathogenic
CCDC54-AS1, LOC123002328
+682 more
Copy number loss
Chromosome 3q13.31 deletion syndrome
GPathogenic
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
LOC129937460, LOC129937461
+571 more
Copy number loss
See cases
GPathogenic
LOC129937275, LOC129937276
+286 more
Copy number loss
See cases
GPathogenic
LOC129937337, LOC129937338
+199 more
Copy number loss
See cases
GPathogenic
ADPRH, ARHGAP31
+101 more
Copy number gain
See cases
GUncertain significance
ADPRH, ARHGAP31
+100 more
Copy number gain
See cases
GUncertain significance
ADCY5, ADPRH
+326 more
Copy number loss
See cases
GPathogenic
LOC129937413, LOC129937414
+291 more
Copy number loss
See cases
GPathogenic
FSTL1, GTF2E1
+24 more
Copy number gain
See cases
GUncertain significance
GTF2E1, HGD
+11 more
Copy number gain
See cases
GUncertain significance
GTF2E1, HGD
+10 more
Copy number gain
See cases
GUncertain significance
RABL3
Single nucleotide variant
(intron variant)
RABL3-related disorder
GBenign
RABL3
(F200S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RABL3
(N192K)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
RABL3
(R184Q)
Single nucleotide variant
(missense variant +2 more)
RABL3-related disorder
GLikely benign
RABL3
(D170V)
Single nucleotide variant
(missense variant +1 more)
RABL3-related disorder
GLikely benign
RABL3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RABL3
(H153D)
Single nucleotide variant
(missense variant +1 more)
RABL3-related disorder
GUncertain significance
RABL3
Single nucleotide variant
(intron variant)
RABL3-related disorder
GLikely benign
RABL3
(N127Y)
Single nucleotide variant
(missense variant +1 more)
RABL3-related disorder
GUncertain significance
RABL3
(V119M)
Single nucleotide variant
(missense variant +1 more)
RABL3-related disorder
GUncertain significance
RABL3
(T98I)
Single nucleotide variant
(missense variant +1 more)
RABL3-related disorder
GUncertain significance
RABL3
Single nucleotide variant
(synonymous variant +1 more)
RABL3-related disorder
GLikely benign
RABL3
Single nucleotide variant
(intron variant)
RABL3-related disorder
GBenign
RABL3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RABL3
(F84S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RABL3
Single nucleotide variant
(synonymous variant +1 more)
RABL3-related disorder
GLikely benign
RABL3
Single nucleotide variant
(splice donor variant)
RABL3-related disorder
GUncertain significance
RABL3
(S36*)
Single nucleotide variant
(nonsense +1 more)
Pancreatic cancer, susceptibility to, 5
Grisk factor
RABL3
Single nucleotide variant
(synonymous variant +1 more)
RABL3-related disorder
GLikely benign
RABL3
(L25F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC112872291, RABL3
Single nucleotide variant
(intron variant)
RABL3-related disorder
GLikely benign
LOC112872291, RABL3
(V7G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC112872291, RABL3
(S3T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
A4GNT, AADAC
+303 more
Copy number gain
not provided
GPathogenic
FSTL1, GPR156
+6 more
Copy number gain
not specified
GUncertain significance
ABTB1, ACAD11
+109 more
Deletion
Alkaptonuria
GPathogenic
ABTB1, ADCY5
+69 more
Deletion
Deafness-lymphedema-leukemia syndrome
+1 more
GPathogenic
GTF2E1, HGD
+1 more
Copy number gain
not provided
GUncertain significance
LRRC58, FSTL1
+3 more
Copy number gain
not provided
GLikely benign
HCLS1, ARGFX
+38 more
Copy number loss
not provided
GPathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
IQCB1, FAM162A
+28 more
Copy number gain
See cases
GLikely pathogenic
Format
Items per page
Sort by
Choose Destination