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Items: 65

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935164, LOC129935165
+697 more
Copy number loss
See cases
GPathogenic
AGPS, ANKAR
+377 more
Copy number loss
See cases
GPathogenic
LOC126806416, LOC126806417
+591 more
Copy number loss
See cases
GPathogenic
ANKAR, ASDURF
+312 more
Copy number loss
See cases
GPathogenic
ANKAR, ANKRD44
+430 more
Copy number loss
See cases
GPathogenic
INPP1, ITGA4
+1097 more
Copy number gain
See cases
GPathogenic
ANKAR, ASDURF
+191 more
Copy number loss
See cases
GPathogenic
ANKAR, ANKRD44
+329 more
Copy number loss
See cases
GPathogenic
LOC129935343, LOC129935344
+1703 more
Copy number gain
See cases
GPathogenic
ANKAR, ASDURF
+19 more
Copy number loss
See cases
GPathogenic
MIR1245A, LOC129935240
+11 more
Deletion
Ehlers-Danlos syndrome, type 4
GPathogenic
AAMP, ABCA12
+1687 more
Copy number gain
See cases
GPathogenic
LOC129935238, WDR75
(R8L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ANKAR, ASDURF
+8 more
Copy number gain
See cases
GLikely benign
WDR75
(F38S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
WDR75
(R57S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
WDR75
(I118M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(E122G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(F149S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(R110W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(K186E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(T143I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(M159T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(Y175H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(D185G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(M252R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(G203S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(R268L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(W211L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(R276H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(D239E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(Y306H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(I310V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(I324T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(R344G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(T349I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(E457G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(I410M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(Y496N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(C505F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(I523M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(S535P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(Q619P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(E653K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(A665S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(K777E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDR75
(I741L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL3A1, COL5A2
+2 more
Deletion
Ehlers-Danlos syndrome, type 4
GPathogenic
AAMP, ABCA12
+208 more
Copy number gain
See cases
GPathogenic
ANKAR, ASNSD1
+17 more
Duplication
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
+2 more
GUncertain significance
ABI2, ADAM23
+107 more
Copy number loss
not provided
GPathogenic
ANKAR, ANKRD44
+48 more
Copy number loss
not provided
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
ABI2, ACADL
+127 more
Copy number loss
Chromosome 2q32-q33 deletion syndrome
GPathogenic
AGPS, ANKAR
+217 more
Copy number gain
not specified
GPathogenic
AAMP, ABCA12
+384 more
Copy number gain
See cases
GPathogenic
ANKAR, ASNSD1
+34 more
Copy number gain
not provided
GLikely pathogenic
WDR75, COL3A1
+2 more
Deletion
Ehlers-Danlos syndrome, classic type
+1 more
GPathogenic
AGPS, ANKAR
+86 more
Copy number loss
not provided
GPathogenic
CASP8, CAVIN2
+233 more
Copy number gain
not provided
GPathogenic
ABCB11, AGPS
+125 more
Copy number loss
not provided
GPathogenic
ACSL3, ADAM23
+208 more
Duplication
Neurodevelopmental disorder
GPathogenic
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
AGPS, ANKAR
+62 more
Copy number loss
See cases
GPathogenic
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