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Items: 95

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
ANKRD44
(A988T)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ANKRD44
(R977S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ANKRD44
(R977G)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ANKRD44
(E977K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(V957L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(N952D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(R969H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(A950V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(L887V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(K877T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(N868S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(S862R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(P860S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(V807I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(L798V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(T792M +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(T738M +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(M687T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(A660T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(I658V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(Y698H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(V681L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(P635L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(N662S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(A550S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(A549S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(A516P +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(R503Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(R528W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(T487I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(S472P +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(T463I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(D457G +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(R490C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(V482I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(A480S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(I454V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with hypotonia, seizures, and absent language
GLikely pathogenic
ANKRD44
(K411N +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(I396V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(S372N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(E290D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(G262S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(A246V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(D203G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(T200I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(D187V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(M183T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(R174Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(A164T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129935350, LOC129935351
+69 more
Copy number loss
See cases
GPathogenic
ANKRD44
(H145Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(W107C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(A83S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(L78P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44
(V67A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44, LOC129935352
(L4F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD44, LOC129935352
(A2G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABI2, ACADL
+95 more
Copy number loss
not specified
GPathogenic
ANKRD44, C2orf66
+4 more
Copy number gain
not provided
GUncertain significance
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
GTF3C3, ANKRD44
+4 more
Copy number gain
not provided
GLikely benign
ANKRD44
Copy number gain
not provided
GUncertain significance
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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