"Department of Molecular and Human Genetics, Baylor College of Medicin - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 805870	NM_003309.4(TSPYL1):c.725_726del (p.Val242fs)	DSE, TSPYL1 (V242fs)	Microsatellite (frameshift variant +1 more)	Sudden infant death-dysgenesis of the testes syndrome	GPathogenic/Likely pathogenic
Select item 180227	NC_000006.11:g.(116681080_116735056)_(119687719_119775014)del	ASF1A, CALHM4 +22 more	Deletion	Tremor +3 more	GPathogenic
Select item 180224	NC_000006.11:g.(112511751_112511752)_(118037595_118037596)del	KPNA5, LAMA4 +25 more	Deletion	Delayed speech and language development +2 more	GPathogenic

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ClinVar