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Items: 41

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
AAMP, ABCA12
+1687 more
Copy number gain
See cases
GPathogenic
ORMDL1
(R146Q)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ORMDL1
(R146W)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ORMDL1
(K100N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ORMDL1
(R99W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ORMDL1
(M60T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ORMDL1
(L58P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ORMDL1
(I54T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ORMDL1
(V30I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ORMDL1, PMS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
ORMDL1, PMS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
ORMDL1, PMS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
ORMDL1, PMS1
Single nucleotide variant
(intron variant)
Lynch syndrome
+1 more
GBenign/Likely benign
ORMDL1, PMS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
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
OSGEPL1, STAT4
+38 more
Copy number loss
Chromosome 2q32-q33 deletion syndrome
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
ORMDL1, PMS1
Copy number loss
See cases
GUncertain significance
AGPS, ANKAR
+62 more
Copy number loss
See cases
GPathogenic
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