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Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806176, LOC126806177
+1047 more
Copy number gain
See cases
GPathogenic
ABHD1, ACP1
+893 more
Copy number gain
See cases
GPathogenic
LOC129933242, LOC129933243
+1631 more
Copy number gain
See cases
GPathogenic
ABCG5, ABCG8
+1400 more
Copy number gain
See cases
GPathogenic
LOC129934199, LOC129934200
+2457 more
Copy number gain
See cases
GBenign
ABHD1, ADCY3
+321 more
Copy number loss
See cases
GPathogenic
LOC129933291, LOC129933292
+142 more
Copy number loss
See cases
GUncertain significance
ABHD1, ADGRF3
+99 more
Copy number gain
See cases
GUncertain significance
DPYSL5
Single nucleotide variant
(5 prime UTR variant)
Ritscher-Schinzel syndrome 4
GUncertain significance
DPYSL5
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
DPYSL5
(V8M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPYSL5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DPYSL5
(D20N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPYSL5
(E41K)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 4
+1 more
GConflicting classifications of pathogenicity
DPYSL5
(M43K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DPYSL5
(G47R)
Single nucleotide variant
(missense variant)
Dandy-Walker syndrome
+3 more
GConflicting classifications of pathogenicity
DPYSL5
(A53G)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 4
GUncertain significance
DPYSL5
Single nucleotide variant
(synonymous variant)
See cases
GUncertain significance
DPYSL5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DPYSL5
(D104E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DPYSL5
(S108F)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 4
GUncertain significance
DPYSL5
(A112T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
DPYSL5
(R117*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
DPYSL5
(A129T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPYSL5
(V132A)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 4
GUncertain significance
DPYSL5
(V149M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPYSL5
(Q176R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPYSL5
(A180T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
DPYSL5
(V190I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
DPYSL5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DPYSL5
Single nucleotide variant
(splice donor variant)
Autism spectrum disorder
GLikely benign
DPYSL5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DPYSL5
(E217K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPYSL5
(I218V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPYSL5
(A236E)
Single nucleotide variant
(missense variant)
DPYSL5-related condition
GUncertain significance
DPYSL5
(N237K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPYSL5
(T296M)
Single nucleotide variant
(missense variant)
not provided
GBenign
DPYSL5
(S312R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DPYSL5
Single nucleotide variant
(intron variant)
not provided
GBenign
DPYSL5
(D325G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DPYSL5
(R393C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
DPYSL5
(P463L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DPYSL5
(E506Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DPYSL5
(G557R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF513, SLC5A6
+65 more
Duplication
not provided
GUncertain significance
SLC4A1AP, OTOF
+72 more
Duplication
not provided
GUncertain significance
ABHD1, ADAM17
+177 more
Copy number gain
not provided
GPathogenic
ACTG2, ACTR1B
+529 more
Copy number loss
See cases
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
CENPA, CIB4
+9 more
Copy number gain
not specified
GUncertain significance
EMILIN1, AGBL5
+10 more
Copy number loss
Ritscher-Schinzel syndrome 4
GUncertain significance
OTOF, OXER1
+131 more
Copy number gain
See cases
GPathogenic
UCN, ZFP36L2
+131 more
Copy number gain
not provided
GLikely pathogenic
ABCG5, ABCG8
+182 more
Copy number gain
not provided
GPathogenic
ZEB2, ZFAND2B
+1216 more
Copy number gain
not provided
GPathogenic
AAK1, AAMP
+1216 more
Copy number gain
not provided
GPathogenic
DCAF17, DCDC2C
+1214 more
Copy number gain
See cases
GPathogenic
AAK1, AAMP
+1214 more
Copy number gain
See cases
GPathogenic
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