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Items: 51

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
ADAM18, ADAM2
+543 more
Copy number gain
See cases
GPathogenic
ADHFE1, ALKAL1
+491 more
Copy number gain
See cases
GPathogenic
LOC126860489, LOC126860490
+1963 more
Copy number gain
See cases
GPathogenic
ALKAL1, ATP6V1H
+175 more
Copy number loss
See cases
GPathogenic
ASPH, ATP6V1H
+228 more
Copy number loss
See cases
GPathogenic
CERNA3, CHCHD7
+69 more
Copy number loss
See cases
GPathogenic
BPNT2, CA8
+175 more
Copy number loss
See cases
GPathogenic
ASPH, BHLHE22
+222 more
Copy number gain
See cases
GPathogenic
BPNT2, CERNA3
+105 more
Copy number loss
See cases
GPathogenic
BPNT2, LINC00968
+11 more
Copy number gain
See cases
GUncertain significance
SDR16C5
(Y272C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDR16C5
(P224T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDR16C5
(M263I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDR16C5
(V207F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDR16C5
(E246K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDR16C5
(I182V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDR16C5
(V166A +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SDR16C5
(V166L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDR16C5
(S133T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDR16C5
(L154V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SDR16C5
(I123F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SDR16C5
(G117S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SDR16C5
(Q111R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDR16C5
(C99Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDR16C5
(C97Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDR16C5
(R85Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SDR16C5
(N73S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDR16C5
(T46P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDR16C5
(T46A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDR16C5
(G40R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDR16C5
(P32S)
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
BPNT2, CHCHD7
+3 more
Copy number loss
not provided
GLikely pathogenic
AARD, ABRA
+665 more
Copy number gain
Polydactyly
GPathogenic
PENK, SDR16C5
+6 more
Duplication
not provided
GUncertain significance
BAALC, CNOT7
+665 more
Copy number gain
not provided
GPathogenic
HSF1, HTRA4
+474 more
Copy number gain
not provided
GPathogenic
IDO1, IDO2
+78 more
Copy number gain
not provided
GPathogenic
AARD, ABRA
+593 more
Copy number gain
See cases
GPathogenic
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
TGS1, PENK
+8 more
Copy number loss
See cases
GLikely pathogenic
ALKAL1, ASPH
+36 more
Copy number gain
See cases
GPathogenic
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