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Items: 84

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PSMG3, PSMG3-AS1
+904 more
Copy number gain
See cases
GPathogenic
LOC129997989, LOC129997990
+823 more
Copy number gain
See cases
GPathogenic
LOC110120728, LOC110120749
+879 more
Copy number gain
See cases
GPathogenic
CCDC146, CCDC201
+4735 more
Copy number loss
See cases
GPathogenic
ABCB5, ACTB
+1148 more
Copy number gain
See cases
GPathogenic
LOC126860013, LOC126860014
+1298 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+769 more
Copy number gain
See cases
GPathogenic
LOC129997985, LOC129997986
+560 more
Copy number gain
See cases
GPathogenic
LOC123924901, LOC123924902
+331 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
CYCS, GSDME
+73 more
Copy number loss
See cases
GLikely pathogenic
CYCS
Single nucleotide variant
(3 prime UTR variant)
Thrombocytopenia
GUncertain significance
CYCS
Deletion
(3 prime UTR variant)
Thrombocytopenia
GUncertain significance
CYCS
Deletion
(3 prime UTR variant)
Thrombocytopenia
GLikely benign
CYCS
Deletion
(3 prime UTR variant)
Thrombocytopenia
GUncertain significance
CYCS
Deletion
(3 prime UTR variant)
Thrombocytopenia
GLikely benign
CYCS
Deletion
(3 prime UTR variant)
Thrombocytopenia
GUncertain significance
CYCS
Deletion
(3 prime UTR variant)
Thrombocytopenia
GUncertain significance
CYCS
Single nucleotide variant
(3 prime UTR variant)
Thrombocytopenia
GUncertain significance
CYCS
Duplication
(3 prime UTR variant)
Thrombocytopenia
GLikely benign
CYCS
Duplication
(3 prime UTR variant)
Thrombocytopenia
GUncertain significance
CYCS
Duplication
(3 prime UTR variant)
Thrombocytopenia
GLikely benign
CYCS
Deletion
(3 prime UTR variant)
Thrombocytopenia
GUncertain significance
CYCS
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
CYCS
(T103I)
Single nucleotide variant
(missense variant)
Thrombocytopenia
+1 more
GConflicting classifications of pathogenicity
CYCS
Deletion
(inframe_indel)
not provided
GUncertain significance
CYCS
(K101del)
Deletion
(inframe_deletion)
Thrombocytopenia 4
GPathogenic
CYCS
(L99F)
Single nucleotide variant
(missense variant)
CYCS-related condition
GLikely pathogenic
CYCS
(L99V)
Single nucleotide variant
(missense variant)
Thrombocytopenia
GLikely pathogenic
CYCS
(Y98H)
Single nucleotide variant
(missense variant)
Thrombocytopenia 4
GUncertain significance
CYCS
(A97D)
Single nucleotide variant
(missense variant)
Thrombocytopenia 4
GLikely pathogenic
CYCS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYCS
(E90K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYCS
Deletion
(inframe_indel)
not provided
GUncertain significance
CYCS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYCS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYCS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYCS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYCS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYCS
(I58V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYCS
Single nucleotide variant
(intron variant)
Thrombocytopenia 4
GUncertain significance
CYCS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYCS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYCS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYCS
(N55S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYCS
(N53S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYCS
(A52V)
Single nucleotide variant
(missense variant)
Abnormal bleeding
+1 more
GLikely pathogenic
CYCS
(A52T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYCS
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CYCS
(Y49H)
Single nucleotide variant
(missense variant)
Thrombocytopenia 4
GPathogenic
CYCS
(S48P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYCS
(G42S)
Single nucleotide variant
(missense variant)
Thrombocytopenia 4
+1 more
GLikely pathogenic
CYCS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYCS
(L33V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYCS
(N32H)
Single nucleotide variant
(missense variant)
Thrombocytopenia 4
GUncertain significance
CYCS
(H27Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CYCS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYCS
(V21G)
Single nucleotide variant
(missense variant)
Thrombocytopenia 4
GUncertain significance
CYCS
(T20I)
Single nucleotide variant
(missense variant)
Thrombocytopenia 4
GUncertain significance
CYCS
(M13I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYCS
(M13I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYCS
(I10V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYCS
(D3Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYCS
Single nucleotide variant
(5 prime UTR variant)
not specified
+2 more
GBenign
ABCB5, CBX3
+75 more
Copy number loss
not specified
GPathogenic
ABCB5, AGMO
+71 more
Copy number loss
not specified
GPathogenic
OSBPL3, CYCS
+1 more
Duplication
not provided
GUncertain significance
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
ABCB5, ADCYAP1R1
+117 more
Copy number gain
not specified
GLikely pathogenic
FKBP14, HNRNPA2B1
+61 more
Copy number loss
not provided
GPathogenic
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
NFE2L3, NOD1
+53 more
Deletion
Silver Russell Syndrome-related disorder
GPathogenic
C7orf31, CBX3
+31 more
Copy number loss
See cases
GPathogenic
AASS, ABCA13
+896 more
Copy number gain
See cases
GPathogenic
KLHL7, KLHL7-DT
+896 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+158 more
Copy number gain
See cases
GPathogenic
ABCA13, ABCB5
+196 more
Copy number gain
See cases
GPathogenic
AASS, ABCA13
+678 more
Deletion
Pleomorphic xanthoastrocytoma
GPathogenic
ABCB5, ADCYAP1R1
+119 more
Copy number gain
See cases
GPathogenic
ADCYAP1R1, AQP1
+68 more
Copy number loss
See cases
GPathogenic
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
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