U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 92

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129929105, LOC129929106
+2149 more
Copy number gain
Trisomy 12p
GPathogenic
ACTL8, AGMAT
+303 more
Copy number loss
See cases
GPathogenic
LOC126805640, LOC126805641
+206 more
Copy number loss
See cases
GPathogenic
EMC1-AS1, FAM43B
+221 more
Copy number loss
See cases
GPathogenic
LOC108254694, PAX7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PAX7
Single nucleotide variant
(splice acceptor variant)
Myopathy, congenital, progressive, with scoliosis
GPathogenic
PAX7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PAX7
(P32L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAX7
(V38F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAX7
(R56C)
Single nucleotide variant
(missense variant)
Myopathy, congenital, progressive, with scoliosis
GPathogenic
PAX7
Single nucleotide variant
(synonymous variant)
PAX7-related disorder
GLikely benign
PAX7
(I67M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAX7
(R74*)
Single nucleotide variant
(nonsense)
Myopathy, congenital, progressive, with scoliosis
+1 more
GLikely pathogenic
PAX7
(R77C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAX7
Single nucleotide variant
(synonymous variant)
PAX7-related disorder
GLikely benign
PAX7
(I96T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAX7
Single nucleotide variant
(synonymous variant)
PAX7-related disorder
GLikely benign
PAX7
(G103S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PAX7
(P112L)
Single nucleotide variant
(missense variant)
Axial hypotonia
+2 more
GConflicting classifications of pathogenicity
PAX7
Single nucleotide variant
(synonymous variant)
PAX7-related disorder
GLikely benign
PAX7
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
PAX7
(D113N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAX7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PAX7
(I133T)
Single nucleotide variant
(missense variant)
Myopathy, congenital, progressive, with scoliosis
GUncertain significance
PAX7
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PAX7
(R145*)
Single nucleotide variant
(nonsense)
Myopathy, congenital, progressive, with scoliosis
GPathogenic
PAX7
(R145L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAX7
(R145Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAX7
(D177E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAX7
Single nucleotide variant
(synonymous variant)
PAX7-related disorder
GLikely benign
PAX7
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PAX7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PAX7
(R196L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAX7
(E199G +1 more)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
PAX7
(R213H +1 more)
Single nucleotide variant
(missense variant)
Myopathy, congenital, progressive, with scoliosis
GUncertain significance
PAX7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PAX7
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PAX7
(R217C +1 more)
Single nucleotide variant
(missense variant)
PAX7-related disorder
GUncertain significance
PAX7
(E227K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAX7
(A235T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAX7
(R245C +1 more)
Single nucleotide variant
(missense variant)
Myopathy, congenital, progressive, with scoliosis
GUncertain significance
PAX7
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PAX7
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PAX7
Single nucleotide variant
(synonymous variant)
Myopathy, congenital, progressive, with scoliosis
GBenign
PAX7
Single nucleotide variant
(synonymous variant)
PAX7-related disorder
GLikely benign
PAX7
(P302H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAX7
(Y301H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAX7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PAX7
(D305G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PAX7
(G319A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAX7
Single nucleotide variant
(synonymous variant)
PAX7-related disorder
GLikely benign
PAX7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PAX7
Single nucleotide variant
(intron variant)
PAX7-related disorder
GLikely benign
PAX7
Single nucleotide variant
(intron variant)
not provided
GBenign
PAX7
Single nucleotide variant
(synonymous variant)
PAX7-related disorder
GLikely benign
PAX7
(P396L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PAX7
(G410S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PAX7
(G410D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PAX7
(I419V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAX7
(R426P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAX7
(G457S +1 more)
Single nucleotide variant
(missense variant)
PAX7-related disorder
+1 more
GConflicting classifications of pathogenicity
PAX7
(Y460C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAX7
(Q462H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PAX7
Single nucleotide variant
(synonymous variant)
PAX7-related disorder
GLikely benign
PAX7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PAX7
Single nucleotide variant
(synonymous variant +1 more)
PAX7-related disorder
GLikely benign
PAX7
(A487D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PAX7
(M490V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PAX7
(M490I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PAX7
(V498G +1 more)
Single nucleotide variant
(missense variant +1 more)
Myopathy, congenital, progressive, with scoliosis
GUncertain significance
PAX7
(M501T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PAX7
(T481fs)
Deletion
(frameshift variant)
PAX7-related disorder
GUncertain significance
ALDH4A1, LOC120893116
+3 more
Copy number gain
See cases
GUncertain significance
ACTL8, AKR7A2
+58 more
Copy number loss
not specified
GPathogenic
ACTL8, AKR7A2
+22 more
Copy number gain
not provided
GUncertain significance
ACTL8, AKR7A2
+65 more
Copy number gain
not provided
GLikely pathogenic
NOL9, TNFRSF1B
+184 more
Deletion
Chromosome 1p36 deletion syndrome
GPathogenic
AADACL3, AADACL4
+143 more
Copy number loss
not provided
GPathogenic
PAX7
Copy number loss
not specified
GUncertain significance
ACTL8, AKR7A2
+38 more
Copy number loss
not provided
GPathogenic
FAM43B, HP1BP3
+77 more
Copy number loss
1p36.1 deletion syndrome
GPathogenic
EMC1, EPHA2
+73 more
Copy number loss
not provided
GPathogenic
AKR7A3, AKR7L
+51 more
Copy number loss
not provided
GPathogenic
KLHDC7A, PAX7
Copy number gain
not provided
GUncertain significance
ALDH4A1, IFFO2
+4 more
Copy number gain
not provided
GUncertain significance
ANGPTL7, C1orf127
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
PAX7, KLHDC7A
Copy number gain
not provided
GUncertain significance
IGSF21, KLHDC7A
+1 more
Copy number gain
See cases
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
Format
Items per page
Sort by
Choose Destination