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Items: 48

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935164, LOC129935165
+697 more
Copy number loss
See cases
GPathogenic
LOC126806416, LOC126806417
+591 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, 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
LOC129935726, LOC129935727
+1665 more
Copy number gain
See cases
GPathogenic
ABCA12, ABI2
+509 more
Copy number loss
See cases
GPathogenic
ANKRD44, ANKRD44-AS1
+118 more
Copy number loss
See cases
GPathogenic
LOC129935713, LOC129935714
+1299 more
Copy number gain
See cases
GPathogenic
ABI2, ALS2
+279 more
Copy number loss
See cases
GPathogenic
LOC129935350, LOC129935351
+69 more
Copy number loss
See cases
GPathogenic
ALS2, AOX1
+145 more
Copy number loss
See cases
GLikely pathogenic
COQ10B
(G13A +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
COQ10B
(G13V +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
COQ10B
(P13R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COQ10B
(K23R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
COQ10B
(A26E +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COQ10B
(K31E +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COQ10B
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
COQ10B
(R116C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COQ10B
(P126L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COQ10B
(H150Y +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COQ10B
(D152G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COQ10B
(A211V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABI2, ACADL
+95 more
Copy number loss
not specified
GPathogenic
AAMP, ABCA12
+208 more
Copy number gain
See cases
GPathogenic
ABI2, ADAM23
+107 more
Copy number loss
not provided
GPathogenic
ANKRD44, COQ10B
+6 more
Copy number gain
not provided
GUncertain significance
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
ANKRD44, COQ10B
+5 more
Copy number gain
not specified
GUncertain significance
ANKRD44, BOLL
+16 more
Copy number loss
not specified
GPathogenic
AGPS, ANKAR
+217 more
Copy number gain
not specified
GPathogenic
PGAP1, PLCL1
+20 more
Copy number loss
Chromosome 2q32-q33 deletion syndrome
GPathogenic
AAMP, ABCA12
+384 more
Copy number gain
See cases
GPathogenic
OSGEPL1, STAT4
+38 more
Copy number loss
Chromosome 2q32-q33 deletion syndrome
GPathogenic
CASP8, CAVIN2
+233 more
Copy number gain
not provided
GPathogenic
ANKRD44, BOLL
+17 more
Copy number loss
not provided
GPathogenic
ACSL3, ADAM23
+208 more
Duplication
Neurodevelopmental disorder
GPathogenic
ANKRD44, AOX1
+45 more
Copy number loss
not provided
GPathogenic
HSPD1, DNAH7
+34 more
Copy number loss
not provided
GPathogenic
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
ANKRD44, AOX1
+28 more
Copy number loss
See cases
GPathogenic
C2orf66, BOLL
+21 more
Copy number loss
See cases
GPathogenic
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