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Items: 1 to 100 of 750

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACER2, ACO1
+1005 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+270 more
Copy number loss
See cases
GPathogenic
LOC130001537, LOC130001538
+3785 more
Copy number gain
See cases
GPathogenic
LOC132089671, LOC132089672
+1213 more
Copy number gain
See cases
GPathogenic
LOC130002976, LOC130002977
+3784 more
Copy number gain
See cases
GPathogenic
LOC130001468, LOC130001469
+3785 more
Copy number gain
See cases
GPathogenic
DNAJB5, DNAJB5-DT
+3785 more
Copy number gain
See cases
GPathogenic
HRCT1, IFNA1
+1061 more
Copy number gain
See cases
GPathogenic
ABHD17B, ACER2
+1119 more
Copy number gain
See cases
GPathogenic
LOC114827838, LOC116186936
+3785 more
Copy number gain
See cases
GPathogenic
LOC124252641, LOC124252642
+3785 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+882 more
Copy number gain
See cases
GPathogenic
LINC03026, LINC03041
+1366 more
Copy number gain
See cases
GPathogenic
LOC114022701, LOC114022702
+3785 more
Copy number gain
See cases
GPathogenic
ACER2, ADAMTSL1
+484 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+271 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+247 more
Copy number loss
See cases
GPathogenic
ACER2, ADAMTSL1
+458 more
Copy number gain
See cases
GPathogenic
LOC130001672, LOC130001673
+983 more
Copy number gain
See cases
GPathogenic
DMAC1, DMRT1
+898 more
Copy number gain
See cases
GPathogenic
LOC126860601, LOC126860602
+581 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+979 more
Copy number gain
See cases
GPathogenic
LOC130001510, LOC130001511
+256 more
Copy number loss
See cases
GPathogenic
ADAMTSL1, AK3
+303 more
Copy number loss
See cases
GPathogenic
LINC03041, LINC03106
+898 more
Copy number gain
See cases
GPathogenic
AK3, BNC2
+290 more
Copy number loss
See cases
GPathogenic
ADAMTSL1, AK3
+297 more
Copy number loss
See cases
GPathogenic
LOC110120726, LOC110120727
+3785 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+538 more
Copy number gain
See cases
GPathogenic
LOC124210616, LOC124225047
+410 more
Copy number gain
See cases
GPathogenic
LOC126860576, LOC126860577
+897 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+255 more
Copy number loss
See cases
GPathogenic
LOC130001469, LOC130001470
+898 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+252 more
Copy number loss
See cases
GPathogenic
LOC126860553, LOC126860554
+280 more
Copy number loss
See cases
GPathogenic
LOC130001466, LOC130001467
+295 more
Copy number loss
See cases
GPathogenic
ACER2, ACO1
+893 more
Copy number gain
See cases
GPathogenic
ADAMTSL1, AK3
+292 more
Copy number loss
See cases
GPathogenic
ACER2, ADAMTSL1
+461 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+273 more
Copy number loss
See cases
GPathogenic
ACER2, ADAMTSL1
+412 more
Copy number gain
See cases
GPathogenic
ACER2, ADAMTSL1
+355 more
Copy number gain
See cases
GPathogenic
ERVFRD-3, FAM219A
+585 more
Copy number gain
See cases
GPathogenic
ACER2, ADAMTSL1
+243 more
Copy number gain
See cases
GPathogenic
ADAMTSL1, BNC2
+67 more
Copy number loss
See cases
GPathogenic
LOC105375976, LOC121811699
+17 more
Copy number gain
See cases
GPathogenic
BNC2, BNC2-AS1
+59 more
Copy number loss
See cases
GPathogenic
ADAMTSL1, BNC2
+61 more
Copy number loss
See cases
GPathogenic
LOC128772329, LOC128772330
+7 more
Copy number gain
See cases
GLikely benign
LOC126860580, LOC128772329
+8 more
Copy number gain
See cases
GUncertain significance
LOC126860580, LOC128772329
+9 more
Copy number gain
See cases
GLikely benign
LOC128772333, LOC128772329
+6 more
Copy number loss
See cases
GUncertain significance
TYRP1
Single nucleotide variant
(5 prime UTR variant)
Oculocutaneous albinism type 3
GUncertain significance
TYRP1
Single nucleotide variant
(5 prime UTR variant)
Oculocutaneous albinism type 3
GBenign
TYRP1
Single nucleotide variant
(5 prime UTR variant)
Oculocutaneous albinism type 3
GUncertain significance
TYRP1
Single nucleotide variant
(5 prime UTR variant)
Oculocutaneous albinism type 3
GUncertain significance
TYRP1
Single nucleotide variant
(5 prime UTR variant)
Oculocutaneous albinism type 3
+1 more
GUncertain significance
TYRP1
Single nucleotide variant
(5 prime UTR variant)
Oculocutaneous albinism type 3
GUncertain significance
TYRP1
Single nucleotide variant
(5 prime UTR variant)
Oculocutaneous albinism type 3
GUncertain significance
TYRP1
Single nucleotide variant
(5 prime UTR variant)
Oculocutaneous albinism type 3
GUncertain significance
TYRP1
Single nucleotide variant
(5 prime UTR variant)
Oculocutaneous albinism type 3
GUncertain significance
TYRP1
(M1I)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
TYRP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TYRP1
(A3V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TYRP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TYRP1
(P4L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TYRP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TYRP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TYRP1
(S8T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TYRP1
(S8F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TYRP1
(G10R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TYRP1
(I12S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TYRP1
(P15T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TYRP1
(L16M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TYRP1
(L16fs)
Deletion
(frameshift variant)
not provided
GPathogenic
TYRP1
(L16F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TYRP1
(R23W)
Single nucleotide variant
(missense variant)
Oculocutaneous albinism type 3
+1 more
GLikely benign
TYRP1
(R23Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TYRP1
(A24T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TYRP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TYRP1
(Q25*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
TYRP1
(P27R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TYRP1
(R28fs)
Deletion
(frameshift variant)
not provided
GPathogenic
TYRP1
(R28I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TYRP1
(Q29H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TYRP1
(A31G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TYRP1
(V33F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TYRP1
(V33A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TYRP1
Deletion
(nonsense)
Oculocutaneous albinism type 3
GPathogenic
TYRP1
(S38R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TYRP1
(G39R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TYRP1
(M40L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TYRP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TYRP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TYRP1
(S46T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TYRP1
(S46C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TYRP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TYRP1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TYRP1
(P47fs)
Deletion
(frameshift variant)
not provided
GConflicting classifications of pathogenicity
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