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Items: 1 to 100 of 145

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM28, ADAM7
+979 more
Copy number gain
See cases
GPathogenic
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
LOC101929290, LOC102723313
+448 more
Copy number gain
See cases
GPathogenic
LOC130000099, LOC130000100
+1040 more
Copy number gain
See cases
GPathogenic
LOC130000032, LOC130000033
+1105 more
Copy number gain
See cases
GPathogenic
LOC129999940, LOC129999941
+687 more
Copy number gain
See cases
GPathogenic
LOC101929290, LOC102723313
+471 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC105379224, LOC105379230
+3657 more
Copy number gain
See cases
GPathogenic
LOC129999950, LOC129999951
+996 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC129999950, LOC129999951
+736 more
Copy number gain
See cases
GPathogenic
LOC126860300, LOC126860301
+720 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
ADAM28, ADAM7
+773 more
Copy number loss
See cases
GPathogenic
XKR5, XKR6
+773 more
Copy number loss
See cases
GPathogenic
DPYSL2, DUSP26
+1020 more
Copy number gain
See cases
GPathogenic
LOC126860319, LOC126860320
+696 more
Copy number gain
See cases
GPathogenic
LOC130000106, LOC130000107
+937 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+499 more
Copy number gain
See cases
GPathogenic
LOC132089588, LOC132089589
+510 more
Copy number loss
See cases
GPathogenic
LOC130000241, LOC130000242
+934 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+665 more
Copy number gain
See cases
GPathogenic
LOC129999967, LOC129999968
+870 more
Copy number gain
See cases
GPathogenic
KAT6A-AS1, KCNU1
+929 more
Copy number gain
See cases
GPathogenic
LOC130000074, LOC130000075
+929 more
Copy number gain
See cases
GPathogenic
TNFRSF10A, TNFRSF10A-DT
+705 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+870 more
Copy number gain
See cases
GPathogenic
LOC124153144, LOC124153145
+818 more
Copy number gain
See cases
GPathogenic
LOC113788268, LOC113788269
+929 more
Copy number gain
See cases
GPathogenic
LOC128772328, LOC129389957
+653 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+567 more
Copy number loss
Microcephaly
GPathogenic
ADAM28, ADAM7
+567 more
Copy number gain
See cases
GPathogenic
LOC130000303, LOC130000304
+922 more
Copy number gain
See cases
GPathogenic
C8orf48, DLC1
+39 more
Copy number gain
See cases
GUncertain significance
LOC113788272, LOC113788273
+807 more
Copy number gain
See cases
GPathogenic
LOC130000012, LOC130000013
+857 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+922 more
Copy number gain
See cases
GPathogenic
LOC130000050, LOC130000051
+791 more
Copy number gain
See cases
GPathogenic
ASAH1, ASAH1-AS1
+144 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+523 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+922 more
Copy number gain
See cases
GPathogenic
ASAH1, ASAH1-AS1
+140 more
Copy number gain
See cases
GPathogenic
LOC132089576, LOC132089577
+29 more
Copy number gain
See cases
GLikely benign
C8orf48, DLC1
+23 more
Copy number gain
See cases
GUncertain significance
C8orf48, DLC1
+23 more
Copy number gain
See cases
GUncertain significance
C8orf48, DLC1
+28 more
Copy number gain
See cases
GUncertain significance
C8orf48, DLC1
+28 more
Copy number gain
See cases
GUncertain significance
C8orf48, DLC1
+28 more
Copy number gain
See cases
GLikely benign
LOC132089565, LOC132089566
+14 more
Copy number loss
See cases
GUncertain significance
LOC132089565, LOC132089566
+14 more
Copy number loss
Diaphragmatic hernia
GUncertain significance
SGCZ
Copy number gain
See cases
GBenign
LOC121294073, LOC132089569
+14 more
Copy number loss
See cases
GUncertain significance
SGCZ
(G184D +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SGCZ
(L250F +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SGCZ
(S236L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SGCZ
(S152P +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SGCZ
(K142R +3 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SGCZ
(F135L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SGCZ
(H126Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SGCZ
(K123E +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SGCZ
(K192N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SGCZ
(D205Y +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SGCZ
(P196L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SGCZ
(A153T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC132089572, LOC132089573
+6 more
Copy number gain
See cases
GLikely benign
SGCZ
(D168Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SGCZ
(I107V +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SGCZ
(T106I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SGCZ
(M7I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SGCZ
(K72Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SGCZ
(I68V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SGCZ
(T59N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SGCZ
(V58I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SGCZ
(L57F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SGCZ
(L49F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SGCZ
(W44L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SGCZ
(T23I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SGCZ
Copy number loss
See cases
GBenign
LOC130000309, LOC130000310
+900 more
Copy number gain
See cases
GPathogenic
SGCZ
Copy number gain
See cases
GBenign
AGPAT5, ANGPT2
+77 more
Copy number gain
See cases
GPathogenic
C8orf48, DLC1
+1 more
Copy number gain
not specified
GUncertain significance
C8orf48, DLC1
+1 more
Copy number loss
not specified
GUncertain significance
C8orf48, DLC1
+5 more
Copy number gain
not specified
GUncertain significance
ADAM18, ADAM2
+234 more
Copy number gain
not specified
GPathogenic
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
HR, MIR320A
+95 more
Copy number loss
not provided
GPathogenic
ADAM18, ADAM2
+176 more
Copy number gain
not provided
GPathogenic
ADAM28, ADAM7
+145 more
Copy number gain
not provided
GPathogenic
C8orf48, DLC1
+3 more
Copy number gain
not provided
GUncertain significance
ADAM28, ADAM7
+140 more
Copy number gain
not provided
GPathogenic
BLK, C8orf48
+34 more
Copy number gain
not provided
GPathogenic
SMIM18, SORBS3
+225 more
Copy number gain
not provided
GPathogenic
ADAM18, ADAM2
+180 more
Duplication
not provided
GPathogenic
SGCZ
Copy number loss
not provided
GUncertain significance
MSR1, SGCZ
+1 more
Copy number loss
not provided
GUncertain significance
AGPAT5, ANGPT2
+93 more
Copy number loss
not provided
GPathogenic
CDCA2, CLDN23
+250 more
Complex
See cases
GPathogenic
ADAM28, ADAM7
+180 more
Copy number loss
See cases
GPathogenic

Items: 1 to 100 of 145

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