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Items: 49

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
LOC121740684, LOC121740685
+4735 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
HYCC1, IL6
+23 more
Copy number gain
See cases
GUncertain significance
IL6
Single nucleotide variant
not provided
GUncertain significance
IL6, IL6-AS1
Single nucleotide variant
(non-coding transcript variant)
INTERLEUKIN 6 POLYMORPHISM
GBenign
LOC126859963, IL6
+1 more
Single nucleotide variant
(genic upstream transcript variant)
Crohn disease-associated growth failure, susceptibility to
+5 more
Gother; risk factor
IL6, IL6-AS1
+1 more
(P31T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
IL6, IL6-AS1
+1 more
(P32S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
IL6, IL6-AS1
+1 more
(A17D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL6, IL6-AS1
+1 more
(Q33H +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
IL6, IL6-AS1
+1 more
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
IL6, IL6-AS1
+1 more
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
IL6
(M19I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL6
(D162V +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
IL6
(N160K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL6
Single nucleotide variant
(synonymous variant)
IL6-related disorder
GBenign
IL6
(R184T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5, CBX3
+75 more
Copy number loss
not specified
GPathogenic
ABCB5, AGMO
+71 more
Copy number loss
not specified
GPathogenic
IL6, IL6-AS1
+1 more
Copy number gain
not provided
GUncertain significance
GPNMB, CCDC126
+12 more
Copy number gain
not provided
GUncertain significance
CDCA7L, DNAH11
+7 more
Deletion
Primary ciliary dyskinesia
+1 more
GPathogenic
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
CDCA7L, DNAH11
+9 more
Duplication
Primary ciliary dyskinesia
GUncertain significance
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
KLHL7, FAM126A
+4 more
Copy number gain
not provided
GUncertain significance
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+158 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+121 more
Copy number gain
See cases
GPathogenic
RP9, SCIN
+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
IL6-AS1, FAM126A
+2 more
Copy number loss
See cases
GUncertain significance
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
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