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Items: 36

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
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
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
(F200S)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
RABL3
(N192K)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
RABL3
(H153D)
Single nucleotide variant
(missense variant +1 more)
RABL3-related condition
GUncertain significance
RABL3
(N127Y)
Single nucleotide variant
(missense variant +1 more)
RABL3-related condition
GUncertain significance
RABL3
(V119M)
Single nucleotide variant
(missense variant +1 more)
RABL3-related condition
GUncertain significance
RABL3
(T98I)
Single nucleotide variant
(missense variant +1 more)
RABL3-related condition
GUncertain significance
RABL3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RABL3
(F84S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
RABL3
(S36*)
Single nucleotide variant
(nonsense +1 more)
Pancreatic cancer, susceptibility to, 5
Grisk factor
A4GNT, AADAC
+303 more
Copy number gain
not provided
GPathogenic
FSTL1, GPR156
+6 more
Copy number gain
not specified
GUncertain significance
KALRN, KBTBD12
+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
FSTL1, HGD
+6 more
Copy number gain
not provided
GLikely benign
LRRC2, LRRC31
+1054 more
Copy number gain
not provided
GPathogenic
A4GNT, AADAC
+1055 more
Copy number gain
not provided
GPathogenic
LRRC58, FSTL1
+3 more
Copy number gain
not provided
GLikely benign
HCLS1, ARGFX
+38 more
Copy number loss
not provided
GPathogenic
FBXL2, FBXO40
+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
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