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Items: 48

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129929105, LOC129929106
+2149 more
Copy number gain
Trisomy 12p
GPathogenic
EMC1-AS1, FAM43B
+221 more
Copy number loss
See cases
GPathogenic
ALPL, C1QA
+60 more
Copy number loss
See cases
GUncertain significance
ALPL, CELA3A
+31 more
Copy number gain
See cases
GUncertain significance
USP48
(V927I +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP48
(R915W +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP48
(P814L +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP48
Single nucleotide variant
(intron variant)
not provided
GBenign
USP48
(T753M +4 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
USP48
(I38V +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP48
(V674A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP48
(T739M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP48
(T672L +2 more)
Indel
(missense variant)
Hearing loss, autosomal dominant 85
GPathogenic
USP48
(T672S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP48
Single nucleotide variant
(synonymous variant)
not provided
GBenign
USP48
(S11T +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP48
(S534I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP48
(L599S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP48
(R565H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP48
(I564M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP48
(C487G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP48
(F537L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP48
(D535N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP48
(S524P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP48
(P521L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
USP48
(D516N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP48
(S514C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP48
(T503N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP48
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
USP48
(M415V +1 more)
Single nucleotide variant
(missense variant)
Malignant tumor of prostate
GUncertain significance
USP48
(G405R)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal dominant 85
GPathogenic
USP48
(Y336C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP48
(E328K)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal dominant 85
GUncertain significance
USP48
(R267C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP48
(Q248R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP48
(Q225E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP48
(N224S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP48
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ALPL, NBPF3
+2 more
Copy number gain
not specified
GUncertain significance
ACTL8, AKR7A2
+65 more
Copy number gain
not provided
GLikely pathogenic
VWA5B1, WNT4
+49 more
Duplication
Autosomal recessive early-onset Parkinson disease 6
+2 more
GUncertain significance
AKR7A2, AKR7A3
+77 more
Duplication
Deficiency of hydroxymethylglutaryl-CoA lyase
GUncertain significance
FAM43B, HP1BP3
+77 more
Copy number loss
1p36.1 deletion syndrome
GPathogenic
ANGPTL7, C1orf127
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
BCAS2, CNTN2
+2014 more
Copy number gain
See cases
GPathogenic
FAM76A, FAM78B
+2014 more
Copy number gain
See cases
GPathogenic
ACTL8, AKR7A2
+88 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
IGSF21, IL22RA1
+314 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
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