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Items: 1 to 100 of 108

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129998085, LOC129998086
+904 more
Copy number gain
See cases
GPathogenic
RAC1, RADIL
+823 more
Copy number gain
See cases
GPathogenic
HYCC1, ICA1
+879 more
Copy number gain
See cases
GPathogenic
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC129998210, LOC129998211
+1148 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+1298 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+769 more
Copy number gain
See cases
GPathogenic
ABCB5, AGMO
+560 more
Copy number gain
See cases
GPathogenic
LOC129998072, LOC129998073
+331 more
Copy number loss
See cases
GPathogenic
ABCB5, AGMO
+248 more
Copy number loss
See cases
GPathogenic
ABCB5, AGR2
+287 more
Copy number gain
See cases
GPathogenic
LOC111365192, LOC111413014
+281 more
Copy number loss
See cases
GPathogenic
ABCB5, ADCYAP1R1
+387 more
Copy number loss
See cases
GPathogenic
GPNMB
(L4F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GPNMB
Single nucleotide variant
(synonymous variant)
GPNMB-related disorder
GBenign
GPNMB
(P18L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
GPNMB
(A22S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
(A22D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
(Y59S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
(R64Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
(G76C)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
GPNMB
(S86L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPNMB
(A97V)
Single nucleotide variant
(missense variant)
not provided
GBenign
GPNMB
(N99fs)
Deletion
(frameshift variant)
Amyloidosis, primary localized cutaneous, 3
GPathogenic
GPNMB
(K107fs)
Deletion
(frameshift variant)
Amyloidosis, primary localized cutaneous, 3
+1 more
GPathogenic/Likely pathogenic
GPNMB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPNMB
Single nucleotide variant
(synonymous variant)
GPNMB-related disorder
GBenign
GPNMB
(D141Y)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
GPNMB
Single nucleotide variant
(synonymous variant)
GPNMB-related disorder
GBenign
GPNMB
(G144R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
(P157S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
(V176I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
(Y183D)
Single nucleotide variant
(missense variant)
Amyloidosis, primary localized cutaneous, 3
GUncertain significance
GPNMB
(R189*)
Single nucleotide variant
(nonsense)
Amyloidosis, primary localized cutaneous, 3
GPathogenic
GPNMB
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
GPNMB
(N197K)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
GPNMB
(N200D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
(L207F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
(E209D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
(V210M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
(R218P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
(Y220*)
Single nucleotide variant
(nonsense)
Amyloidosis, primary localized cutaneous, 3
GPathogenic
GPNMB
(V229A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
(V231L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
Single nucleotide variant
(splice acceptor variant)
GPNMB-related disorder
GLikely pathogenic
GPNMB
(V240fs)
Microsatellite
(frameshift variant)
Amyloidosis, primary localized cutaneous, 3
GPathogenic
GPNMB
(K245R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
(R248Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
(D252G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
(P260S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
(P270S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GPNMB
(L274V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
(V293fs)
Microsatellite
(frameshift variant)
Amyloidosis, primary localized cutaneous, 3
GPathogenic
GPNMB
(F292L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
(T308N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
(V315fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
GPNMB
(P324L)
Single nucleotide variant
(missense variant)
not provided
GBenign
GPNMB
(P330H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
Single nucleotide variant
(intron variant)
GPNMB-related disorder
GLikely benign
GPNMB
(P353fs +1 more)
Deletion
(frameshift variant)
Amyloidosis, primary localized cutaneous, 3
GPathogenic
GPNMB
(C369F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
Single nucleotide variant
(intron variant)
GPNMB-related disorder
GLikely benign
GPNMB
Single nucleotide variant
(splice acceptor variant)
Amyloidosis, primary localized cutaneous, 3
GPathogenic
GPNMB
(I398T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPNMB
(V414M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
Single nucleotide variant
(intron variant)
GPNMB-related disorder
GLikely benign
GPNMB
(T422M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
(E423K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
(D433E +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
GPNMB
(R444* +1 more)
Single nucleotide variant
(nonsense)
Amyloidosis, primary localized cutaneous, 3
GLikely pathogenic
GPNMB
(N447S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
GPNMB
(V492I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
(I509V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
GPNMB
(S515P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
(S515F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
(Y525S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
(G533R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
(R525T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
(S526R +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
GPNMB
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GPNMB
(R535H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
GPNMB
(V539M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPNMB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPNMB
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
GPNMB
(E567* +1 more)
Single nucleotide variant
(nonsense)
not provided
GBenign/Likely benign
ABCB5, CBX3
+75 more
Copy number loss
not specified
GPathogenic
ABCB5, AGMO
+71 more
Copy number loss
not specified
GPathogenic
GPNMB, CCDC126
+12 more
Copy number gain
not provided
GUncertain significance
GPNMB, HYCC1
+5 more
Copy number gain
not provided
GUncertain significance
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
GPNMB, HYCC1
+8 more
Copy number loss
not specified
GUncertain significance
ABCB5, ADCYAP1R1
+117 more
Copy number gain
not specified
GLikely pathogenic
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
NFE2L3, NOD1
+53 more
Deletion
Silver Russell Syndrome-related disorder
GPathogenic
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
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