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Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGPS, ATF2
+417 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+307 more
Copy number loss
See cases
GPathogenic
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
GULP1
Copy number loss
See cases
GBenign
GULP1
Copy number loss
See cases
GBenign
GULP1
(P17S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GULP1
Copy number loss
See cases
GBenign
GULP1
(I74V +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GULP1
(I52V +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GULP1
(P84S +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GULP1
(T58A +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GULP1
(T78S +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GULP1
(C133S +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GULP1
(A158T +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GULP1
(M274V +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GULP1
(S126P +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GULP1
(T284A +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GULP1
(P158A +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GULP1
(Q171L +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GULP1
(R256T +4 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
AAMP, ABCA12
+208 more
Copy number gain
See cases
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
GULP1
Copy number gain
not provided
GUncertain significance
AAMP, ABCA12
+384 more
Copy number gain
See cases
GPathogenic
ANKAR, ASNSD1
+34 more
Copy number gain
not provided
GLikely pathogenic
AGPS, ANKAR
+86 more
Copy number loss
not provided
GPathogenic
CASP8, CAVIN2
+233 more
Copy number gain
not provided
GPathogenic
GULP1
Copy number loss
not provided
GUncertain significance
ABCB11, AGPS
+125 more
Copy number loss
not provided
GPathogenic
ACSL3, ADAM23
+208 more
Duplication
Neurodevelopmental disorder
GPathogenic
COL3A1, COL5A2
+2 more
Copy number gain
not provided
GUncertain significance
GULP1
Copy number loss
not provided
GLikely benign
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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