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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTE1P, ANO1
+184 more
Copy number loss
See cases
GLikely pathogenic
CCND1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CCND1, LOC130006292
(D129fs)
Indel
(frameshift variant)
not specified
GUncertain significance
CCND1
Single nucleotide variant
(intron variant)
not provided
GBenign
CCND1
(V186A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCND1
(A187V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCND1
(A190V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCND1
Single nucleotide variant
(intron variant)
not provided
GBenign
CCND1
Single nucleotide variant
(synonymous variant)
CCND1-related disorder
GLikely benign
CCND1
Single nucleotide variant
(synonymous variant)
CCND1-related disorder
+1 more
GBenign
CCND1
(T230I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCND1
(R231G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCND1
Single nucleotide variant
(synonymous variant)
CCND1-related disorder
GLikely benign
CCND1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
CCND1
Single nucleotide variant
(intron variant)
not provided
GBenign
CCND1
Single nucleotide variant
(intron variant)
not provided
GBenign
CCND1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
CCND1
(I251M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCND1
(A262V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCND1
(D267G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCND1
(E280del)
Microsatellite
(inframe_indel +1 more)
CCND1-related disorder
GLikely benign
CCND1
(V290M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCND1
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
CCND1
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
ACTN3, ACY3
+362 more
Copy number gain
not provided
GPathogenic
ACTN3, ACY3
+124 more
Duplication
Aicardi-Goutieres syndrome 3
+1 more
GUncertain significance
GRIA4, GRIK4
+956 more
Copy number gain
MISSED ABORTION
GPathogenic
ANO1, CCND1
+8 more
Copy number loss
not provided
GPathogenic
CCND1
Copy number gain
not provided
GUncertain significance
ACER3, ACP2
+904 more
Deletion
Intellectual disability
GPathogenic
ANO1, C11orf24
+24 more
Copy number loss
See cases
GLikely pathogenic
ACP2, CREBZF
+1289 more
Copy number gain
See cases
GPathogenic
GALNT18, MPZL3
+1289 more
Copy number gain
See cases
GPathogenic
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