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Items: 68

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARD, ABRA
+3658 more
Copy number gain
See cases
GPathogenic
LOC129999937, LOC129999938
+3658 more
Copy number gain
See cases
GPathogenic
PKHD1L1, PKIA
+3656 more
Copy number gain
See cases
GPathogenic
LOC126860501, LOC126860502
+3652 more
Copy number gain
See cases
GPathogenic
MIR7705, MIR7848
+3656 more
Copy number gain
See cases
GPathogenic
LOC130000156, LOC130000157
+3106 more
Copy number gain
See cases
GPathogenic
LINC02894, LINC02906
+1960 more
Copy number gain
See cases
GPathogenic
ADHFE1, ARFGEF1
+417 more
Copy number gain
See cases
GPathogenic
LOC130000602, LOC130000603
+470 more
Copy number gain
See cases
GPathogenic
LOC130000640, LOC130000641
+245 more
Copy number gain
See cases
GPathogenic
CASC9, CHMP4C
+169 more
Copy number loss
See cases
GPathogenic
LOC130000617, LOC130000618
+191 more
Copy number loss
See cases
GPathogenic
CASC9, CRISPLD1
+115 more
Copy number loss
See cases
GPathogenic
LOC130001211, LOC130001212
+1690 more
Copy number gain
See cases
GPathogenic
ATP6V0D2, C8orf88
+217 more
Copy number loss
See cases
GPathogenic
LOC130001139, LOC130001140
+1686 more
Copy number gain
See cases
GPathogenic
LOC130000705, LOC130000706
+327 more
Copy number loss
See cases
GPathogenic
MRPS28, TPD52-MRPS28
(K181E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPS28, TPD52-MRPS28
(G171E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPS28, TPD52-MRPS28
(V162E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPS28, TPD52-MRPS28
Single nucleotide variant
(synonymous variant)
MRPS28-related disorder
GLikely benign
MRPS28, TPD52-MRPS28
(R217Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC110121048, LOC124174282
+5 more
Deletion
Combined oxidative phosphorylation deficiency 47
GPathogenic
MRPS28, TPD52-MRPS28
(D130H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPS28, TPD52-MRPS28
(K119R)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation deficiency 47
GPathogenic
MRPS28, TPD52-MRPS28
(I104V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPS28, TPD52-MRPS28
(R103W +1 more)
Single nucleotide variant
(missense variant)
MRPS28-related disorder
GBenign
MRPS28, TPD52-MRPS28
(L163F +1 more)
Single nucleotide variant
(missense variant)
MRPS28-related disorder
GBenign
MRPS28, TPD52-MRPS28
(V151M +1 more)
Single nucleotide variant
(missense variant)
MRPS28-related disorder
GLikely benign
MRPS28, TPD52-MRPS28
(K149E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPS28, TPD52-MRPS28
Single nucleotide variant
(intron variant)
MRPS28-related disorder
GLikely benign
LOC130000644, MRPS28
+1 more
Microsatellite
(intron variant)
MRPS28-related disorder
GLikely benign
LOC130000644, MRPS28
+1 more
Microsatellite
(intron variant)
MRPS28-related disorder
GLikely benign
LOC130000644, MRPS28
+1 more
Microsatellite
(intron variant)
not provided
GLikely benign
LOC130000644, MRPS28
+1 more
Single nucleotide variant
(intron variant +1 more)
not specified
GUncertain significance
LOC130000644, MRPS28
+1 more
(V66M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130000644, MRPS28
+1 more
(L63V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130000644, MRPS28
+1 more
(L62I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130000644, MRPS28
+1 more
(L62F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130000644, MRPS28
+1 more
(S60W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130000644, MRPS28
+1 more
(S60A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130000644, MRPS28
+1 more
(R58W)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
LOC130000644, MRPS28
+1 more
(R48P)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
LOC130000644, MRPS28
+1 more
(A9V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130000644, MRPS28
+1 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ADAM18, ADAM2
+240 more
Copy number gain
not specified
GPathogenic
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
ANKRD46, ATP6V0D2
+96 more
Copy number gain
not provided
GPathogenic
MRPS28, TPD52
Copy number loss
not provided
GUncertain significance
AARD, ABRA
+141 more
Copy number gain
not provided
GPathogenic
CHMP4C, FABP12
+15 more
Copy number gain
not provided
GUncertain significance
AARD, ABRA
+335 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
Polydactyly
GPathogenic
ATP6V0D2, CA1
+36 more
Copy number loss
not specified
GPathogenic
CRISPLD1, GDAP1
+14 more
Copy number loss
not specified
GPathogenic
DCAF4L2, DCSTAMP
+333 more
Copy number gain
not specified
GPathogenic
CA1, CA13
+31 more
Copy number loss
Chromosome 8q21.11 deletion syndrome
GPathogenic
TPD52, MRPS28
Copy number loss
not provided
GUncertain significance
MRPS28, TPD52
Copy number gain
not provided
GLikely benign
MICU3, MIR1234
+665 more
Copy number gain
not provided
GPathogenic
VPS13B, VPS28
+474 more
Copy number gain
not provided
GPathogenic
CHMP4C, FABP12
+20 more
Copy number loss
See cases
GPathogenic
KCNQ3, KCNS2
+593 more
Copy number gain
See cases
GPathogenic
MRPS28, TPD52
+2 more
Copy number gain
See cases
GLikely benign
PPDPFL, PPP1R16A
+665 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
See cases
GPathogenic
CLDN23, LONRF1
+665 more
Copy number gain
See cases
GPathogenic
RPL7, XKR9
+34 more
Copy number gain
See cases
GLikely pathogenic
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