U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 52

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
INPP1, ITGA4
+1097 more
Copy number gain
See cases
GPathogenic
ANKAR, ANKRD44
+329 more
Copy number loss
See cases
GPathogenic
AAMP, ABCA12
+1703 more
Copy number gain
See cases
GPathogenic
LOC129935343, LOC129935344
+1687 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1665 more
Copy number gain
See cases
GPathogenic
ABCA12, ABI2
+509 more
Copy number loss
See cases
GPathogenic
LOC129935480, LOC129935481
+1299 more
Copy number gain
See cases
GPathogenic
ABI2, ALS2
+279 more
Copy number loss
See cases
GPathogenic
ALS2, AOX1
+145 more
Copy number loss
See cases
GLikely pathogenic
ALS2, AOX1
+117 more
Copy number loss
See cases
GPathogenic
C2orf69, LOC129935377
(W2L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C2orf69, LOC129935377
(L6P)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
C2orf69, LOC129935377
(S28C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C2orf69, LOC129935377
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C2orf69
(D64fs)
Duplication
(frameshift variant)
Combined oxidative phosphorylation deficiency 53
GLikely pathogenic
C2orf69
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C2orf69
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C2orf69
(E94fs)
Deletion
(frameshift variant)
Combined oxidative phosphorylation deficiency 53
GPathogenic
C2orf69
(Q100fs)
Deletion
(frameshift variant)
Combined oxidative phosphorylation deficiency 53
+1 more
GPathogenic
C2orf69
(H101D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C2orf69
Deletion
(inframe_indel)
Combined oxidative phosphorylation deficiency 53
GPathogenic
C2orf69
(P107R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C2orf69
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C2orf69
(N144Y)
Single nucleotide variant
(missense variant)
C2orf69-related disorder
GLikely benign
C2orf69
(N196fs)
Microsatellite
(frameshift variant)
Combined oxidative phosphorylation deficiency 53
GPathogenic
C2orf69
(K282fs)
Deletion
(frameshift variant)
Combined oxidative phosphorylation deficiency 53
GPathogenic
C2orf69
(S304fs)
Deletion
(frameshift variant)
Combined oxidative phosphorylation deficiency 53
GPathogenic
C2orf69
(W310*)
Single nucleotide variant
(nonsense)
Combined oxidative phosphorylation deficiency 53
GPathogenic
C2orf69
(V311I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
C2orf69
(R337H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
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
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, BOLL
+16 more
Copy number loss
not specified
GPathogenic
AGPS, ANKAR
+217 more
Copy number gain
not specified
GPathogenic
BOLL, C2orf66
+20 more
Copy number loss
Chromosome 2q32-q33 deletion syndrome
GPathogenic
AAMP, ABCA12
+384 more
Copy number gain
See cases
GPathogenic
CASP8, CAVIN2
+233 more
Copy number gain
not provided
GPathogenic
C2orf69, FTCDNL1
+5 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
ALS2, AOX1
+25 more
Copy number gain
See cases
GUncertain significance
C2orf66, BOLL
+21 more
Copy number loss
See cases
GPathogenic
NIF3L1, KCTD18
+13 more
Copy number gain
Premature ovarian failure
GUncertain significance
Format
Items per page
Sort by
Choose Destination