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Items: 61

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CD6
Single nucleotide variant
(intron variant)
CD6-related disorder
GBenign
CD6
(A22D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
(E35V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
(R77S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
(P105R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
(P106A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
(L121V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
(L161R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
(G166R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
Single nucleotide variant
(synonymous variant +1 more)
CD6-related disorder
GBenign
CD6
(P212S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
(T217M)
Single nucleotide variant
(missense variant +1 more)
CD6-related disorder
GBenign
CD6
(R225W)
Single nucleotide variant
(missense variant +1 more)
CD6-related disorder
GBenign
CD6
(A257V)
Single nucleotide variant
(missense variant +1 more)
CD6-related disorder
GBenign
CD6
Single nucleotide variant
(synonymous variant +1 more)
CD6-related disorder
GBenign
CD6
(H262Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
(A271T)
Single nucleotide variant
(missense variant +1 more)
CD6-related disorder
GBenign
CD6
(A311E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
(P315T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
(K316R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
(M326T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
(Y328F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
(V374I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
(M400I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
(V407L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
(G409V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
(K429N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
Single nucleotide variant
(synonymous variant +2 more)
CD6-related disorder
GLikely benign
CD6
(P446L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CD6
Single nucleotide variant
(synonymous variant +2 more)
CD6-related disorder
GLikely benign
CD6
(Q439R +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CD6
(E476K +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CD6
(R475W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
(R466Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
Single nucleotide variant
(intron variant)
not provided
GBenign
CD6
(P517Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
(S523L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
Single nucleotide variant
(synonymous variant +1 more)
CD6-related disorder
GBenign
CD6
(G528E +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
Single nucleotide variant
(synonymous variant +1 more)
CD6-related disorder
GBenign
CD6
(G565S +2 more)
Single nucleotide variant
(missense variant +1 more)
CD6-related disorder
GBenign
CD6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CD6
(Q567K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
(S571P +2 more)
Single nucleotide variant
(missense variant +1 more)
CD6-related disorder
GLikely benign
CD6
(G614E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
(P615T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
Single nucleotide variant
(synonymous variant +1 more)
CD6-related disorder
GBenign
CD6
(P647A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CD6
Single nucleotide variant
(synonymous variant +1 more)
CD6-related disorder
GLikely benign
ACTN3, ACY3
+343 more
Copy number gain
not specified
GLikely pathogenic
AHNAK, APLNR
+225 more
Copy number gain
not specified
GLikely pathogenic
ACTN3, ACY3
+362 more
Copy number gain
not provided
GPathogenic
AHNAK, ARL2
+182 more
Duplication
Leukocyte adhesion deficiency 3
GUncertain significance
ACCS, ACCSL
+216 more
Copy number gain
See cases
GPathogenic
GRIA4, GRIK4
+956 more
Copy number gain
MISSED ABORTION
GPathogenic
ACER3, ACP2
+904 more
Deletion
Intellectual disability
GPathogenic
CD5, CD6
+58 more
Copy number gain
not provided
GUncertain significance
CCDC86, CD5
+27 more
Copy number gain
not provided
GUncertain significance
ASRGL1, BEST1
+72 more
Copy number gain
not provided
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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