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Items: 1 to 100 of 108

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC38A7, SLC6A2
+519 more
Duplication
not provided
GPathogenic
LOC130059125, LOC130059126
+675 more
Copy number gain
See cases
GPathogenic
LOC130059149, LOC130059150
+1738 more
Copy number gain
See cases
GPathogenic
ADGRG1, ADGRG3
+244 more
Copy number loss
See cases
GPathogenic
LOC130059330, LOC130059331
+599 more
Copy number gain
See cases
GPathogenic
CCDC113, CFAP20
+32 more
Copy number gain
See cases
GUncertain significance
LOC130059197, LOC130059198
+575 more
Copy number gain
See cases
GPathogenic
NDRG4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDRG4
Deletion
(intron variant)
not provided
GLikely benign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GBenign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDRG4
Duplication
(intron variant)
not provided
GLikely benign
NDRG4
Duplication
(intron variant)
not provided
GBenign
NDRG4
Duplication
(intron variant)
not provided
GBenign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GBenign
NDRG4
Single nucleotide variant
(synonymous variant +1 more)
NDRG4-related disorder
GLikely benign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GBenign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GBenign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDRG4
(I61M +10 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NDRG4
(R53W +10 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NDRG4
(R23Q +10 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NDRG4
(P88S +10 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NDRG4
Single nucleotide variant
(intron variant)
not provided
GBenign
NDRG4
(F115S +10 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NDRG4
(M118R +11 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NDRG4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NDRG4
(V100M +11 more)
Single nucleotide variant
(missense variant +1 more)
Hepatoblastoma
GUncertain significance
NDRG4
(M159I +11 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NDRG4
(V144M +11 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NDRG4
(V171L +11 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NDRG4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GBenign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GBenign
NDRG4
Deletion
(intron variant)
not provided
GBenign
NDRG4
Deletion
(intron variant)
not provided
GBenign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GBenign
NDRG4
(V131A +11 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NDRG4
(V153M +11 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NDRG4
(S217C +11 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NDRG4
(T205S +11 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NDRG4
(T196M +11 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NDRG4
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GBenign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GBenign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GBenign
NDRG4
(V210M +11 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NDRG4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
NDRG4
(M256V +11 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NDRG4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDRG4
Microsatellite
(intron variant)
not provided
GBenign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GBenign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDRG4
Single nucleotide variant
(synonymous variant +1 more)
NDRG4-related disorder
GLikely benign
NDRG4
(R171C +11 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NDRG4
(A239T +11 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NDRG4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GBenign
NDRG4
Single nucleotide variant
(synonymous variant +1 more)
NDRG4-related disorder
+1 more
GBenign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDRG4
(M323T +11 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NDRG4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDRG4
Single nucleotide variant
(synonymous variant +1 more)
NDRG4-related disorder
GLikely benign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GBenign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GBenign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GBenign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GBenign
NDRG4
Single nucleotide variant
(synonymous variant +1 more)
NDRG4-related disorder
GLikely benign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GBenign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GBenign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GBenign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GBenign
NDRG4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDRG4
Single nucleotide variant
(synonymous variant +1 more)
NDRG4-related disorder
GLikely benign
NDRG4
(S340A +18 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NDRG4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
NDRG4
(M335V +18 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NDRG4
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
NDRG4
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
ADGRG1, ADGRG3
+85 more
Copy number loss
not specified
GPathogenic
ADGRG1, ADGRG3
+34 more
Deletion
not provided
GPathogenic
ADGRG1, ADGRG3
+54 more
Deletion
Bardet-Biedl syndrome
+1 more
GPathogenic
HERPUD1, IRX3
+99 more
Copy number gain
not provided
GPathogenic
SYCE1L, TAF1C
+368 more
Copy number gain
not provided
GPathogenic
CCDC113, CFAP20
+6 more
Copy number gain
not provided
GUncertain significance
CCL17, ADGRG1
+28 more
Copy number loss
not provided
GUncertain significance
ADGRG1, ADGRG3
+68 more
Copy number gain
not provided
GUncertain significance
ADGRG1, ADGRG3
+35 more
Copy number loss
not provided
GPathogenic
AARS1, ACD
+194 more
Copy number gain
not provided
GPathogenic
AARS1, ABCC11
+368 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ADCY7, ADGRG1
+368 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ABCC11, ABCC12
+100 more
Copy number gain
See cases
GPathogenic
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