... | ... | @@ -6,6 +6,7 @@ |
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<tr>
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<th>Condition</th>
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<th>Descriptor</th>
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<th>ClinGen Allele Registry Identifier</th>
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<th>Type</th>
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<th>Comments</th>
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</tr>
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... | ... | @@ -31,6 +32,7 @@ |
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<td>
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<span dir="">GRCh38 (chrX)del</span>
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<td</td>
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</td>
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<td>
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... | ... | @@ -43,6 +45,7 @@ |
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<tr>
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<td>47,XYY Syndrome</td>
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<td>GRCh38 (chrY)add</td>
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<td</td>
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<td>
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<span dir="">Aneuploidy</span>
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... | ... | @@ -57,6 +60,7 @@ |
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[Trisomy 18](https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-anomalies/trisomy-18)
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</td>
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<td>GRCh38 (chr18)add</td>
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<td</td>
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<td>
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<span dir="">Aneuploidy</span>
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... | ... | @@ -71,6 +75,7 @@ |
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[Down Syndrome (Trisomy 21)](https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-anomalies/down-syndrome-trisomy-21)
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</td>
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<td>GRCh38 (chr21)add</td>
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<td</td>
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<td>
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<span dir="">Aneuploidy</span>
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... | ... | @@ -91,6 +96,7 @@ |
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* <span dir="">GRCh38 (chr21:q10)::(chr14:q10)</span>
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* <span dir="">GRCh38 (chr21:q)::(chr14:q10),(chr21)del,(chr14)del </span>
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</td>
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<td</td>
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<td>
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<span dir="">Aneuploidy</span>
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... | ... | @@ -104,6 +110,7 @@ |
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* <span dir="">GRCh38 (chrX:147912050-147912052)x201 </span>
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* <span dir="">GRCh38 (chrX:147912050-147912052)x201,500 </span>
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</td>
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<td</td>
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<td>Poly Nucleotide Repeat</td>
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<td>
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... | ... | @@ -118,9 +125,9 @@ GRCh38 (chrX:147912050-147912052)x201 - \[ClinVar sentinal for "200+" repeats va |
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<div>Isochromosome (e.g. leading to Turner syndrome)</div>
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</div></td>
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<td>
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<span dir="">GRCh38 (chrX:q10)::(chrX:q10),(chrX:p)del</span>
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</td>
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<td</td>
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<td>Other - Isochromosome</td>
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<td>- \[form of Turner syndrome, p-arm loss of chrX\]</td>
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</tr>
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... | ... | @@ -135,6 +142,7 @@ GRCh38 (chrX:147912050-147912052)x201 - \[ClinVar sentinal for "200+" repeats va |
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<span dir="">GRCh38 (chr14:p)::(chr14:q)</span>
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</td>
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<td</td>
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<td>Other - Ring chromosome</td>
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<td>\[associated with epilepsy and mental retardation\]</td>
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</tr>
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... | ... | @@ -144,6 +152,7 @@ GRCh38 (chrX:147912050-147912052)x201 - \[ClinVar sentinal for "200+" repeats va |
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<span dir="">GRCh37 22q11.2(chr22:18912231-21465672)del,(chr22:20731986-21465672)del</span>
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</td>
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<td</td>
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<td>Structural Variant</td>
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<td>
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... | ... | |