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Items: 90

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3663 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
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC129999966, LOC129999967
+3111 more
Copy number gain
See cases
GPathogenic
LOC126860489, LOC126860490
+1963 more
Copy number gain
See cases
GPathogenic
ADHFE1, ARFGEF1
+417 more
Copy number gain
See cases
GPathogenic
LOC130000591, LOC130000592
+470 more
Copy number gain
See cases
GPathogenic
CASC9, CHMP4C
+169 more
Copy number loss
See cases
GPathogenic
LOC130000646, LOC130000647
+191 more
Copy number loss
See cases
GPathogenic
CASC9, CRISPLD1
+115 more
Copy number loss
See cases
GPathogenic
AARD, ABRA
+1691 more
Copy number gain
See cases
GPathogenic
ATP6V0D2, C8orf88
+217 more
Copy number loss
See cases
GPathogenic
LOC126860535, LOC126860536
+1687 more
Copy number gain
See cases
GPathogenic
LOC130000705, LOC130000706
+327 more
Copy number loss
See cases
GPathogenic
ZBTB10
(S2del)
Deletion
(inframe_deletion +2 more)
not provided
GBenign
ZBTB10
(A21V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(S26F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(T27A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(T27M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(N29S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(N30K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(P47H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(P49S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(P50L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(R61L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130000664, ZBTB10
(G71D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130000664, ZBTB10
(E73K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130000664, ZBTB10
(E78V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130000664, ZBTB10
(A79V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130000664, ZBTB10
(S80F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(G108S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(A116P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(G129S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(P149T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(N154S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(R156*)
Single nucleotide variant
(nonsense +1 more)
Thin vermilion border
+7 more
GUncertain significance
ZBTB10
(P158Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(T160A)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ZBTB10
(D162E)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ZBTB10
(D166V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(Q175P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(S197N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(G215R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(P235R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(P235L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(C248F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(S253A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(L287F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(P289S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(T305I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(A321T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(R340S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB10
(M148T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB10
(N172S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB10
(N230K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB10
(Y239H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB10
(M533V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB10
(E256G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB10
(G280V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB10
(D331G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB10
(L334V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB10
(G337E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB10
(G340D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB10
(A350T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB10
(Y393S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB10
(D560E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB10
(M575R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB10
(D846H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PREX2, PRKDC
+240 more
Copy number gain
not specified
GPathogenic
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
ANKRD46, ATP6V0D2
+96 more
Copy number gain
not provided
GPathogenic
AARD, ABRA
+141 more
Copy number gain
not provided
GPathogenic
CHMP4C, FABP12
+15 more
Copy number gain
not provided
GUncertain significance
AARD, ABRA
+335 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
Polydactyly
GPathogenic
ATP6V0D2, CA1
+36 more
Copy number loss
not specified
GPathogenic
CRISPLD1, GDAP1
+14 more
Copy number loss
not specified
GPathogenic
DCAF4L2, DCSTAMP
+333 more
Copy number gain
not specified
GPathogenic
CA1, CA13
+31 more
Copy number loss
Chromosome 8q21.11 deletion syndrome
GPathogenic
BAALC, CNOT7
+665 more
Copy number gain
not provided
GPathogenic
HSF1, HTRA4
+474 more
Copy number gain
not provided
GPathogenic
CHMP4C, FABP12
+20 more
Copy number loss
See cases
GPathogenic
AARD, ABRA
+593 more
Copy number gain
See cases
GPathogenic
MRPS28, TPD52
+2 more
Copy number gain
See cases
GLikely benign
AARD, ABRA
+665 more
Copy number gain
See cases
GPathogenic
FGF20, FGFR1
+665 more
Copy number gain
See cases
GPathogenic
SCRT1, SCX
+665 more
Copy number gain
See cases
GPathogenic
RPL7, XKR9
+34 more
Copy number gain
See cases
GLikely pathogenic
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