"PreventionGenetics, part of Exact Sciences"[submitter] AND "THAP11"[g - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1627825	NM_020457.3(THAP11):c.9C>G (p.Gly3=)	THAP11, CENPT	Single nucleotide variant (synonymous variant +1 more)	THAP11-related disorder +1 more	GBenign
Select item 1544891	NM_020457.3(THAP11):c.18C>T (p.Cys6=)	CENPT, THAP11	Single nucleotide variant (synonymous variant +1 more)	THAP11-related disorder +1 more	GBenign/Likely benign
Select item 1625453	NM_020457.3(THAP11):c.321A>G (p.Gln107=)	CENPT, THAP11	Single nucleotide variant (synonymous variant +1 more)	THAP11-related disorder +1 more	GBenign
Select item 1552629	NM_020457.3(THAP11):c.339ACAGCAGCA[1] (p.Gln130_Gln132del)	THAP11, CENPT	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2049481	NM_020457.3(THAP11):c.348ACAGCAGCAGCAGCAGCA[1] (p.Gln127_Gln132del)	CENPT, THAP11	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GLikely benign
Select item 2068867	NM_020457.3(THAP11):c.351GCA[7] (p.Gln132_Ser133insGlnGln)	CENPT, THAP11	Microsatellite (inframe_insertion +1 more)	THAP11-related disorder +1 more	GLikely benign
Select item 1651592	NM_020457.3(THAP11):c.348A>G (p.Gln116=)	CENPT, THAP11	Single nucleotide variant (synonymous variant +1 more)	THAP11-related disorder +1 more	GBenign
Select item 1598988	NM_020457.3(THAP11):c.366_392dup (p.Gln124_Gln132dup)	CENPT, THAP11	Duplication (inframe_insertion +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1582497	NM_020457.3(THAP11):c.366_389del (p.Gln125_Gln132del)	CENPT, THAP11	Deletion (inframe_deletion +1 more)	THAP11-related disorder +1 more	GBenign/Likely benign
Select item 1645486	NM_020457.3(THAP11):c.367CAG[12] (p.Gln131_Gln132dup)	THAP11, CENPT	Microsatellite (inframe_insertion +1 more)	THAP11-related disorder +1 more	GBenign/Likely benign
Select item 1624627	NM_020457.3(THAP11):c.367CAG[11] (p.Gln132dup)	CENPT, THAP11	Microsatellite (inframe_insertion +1 more)	THAP11-related disorder +1 more	GBenign/Likely benign
Select item 2713203	NM_020457.3(THAP11):c.367CAG[5] (p.Gln128_Gln132del)	CENPT, THAP11	Microsatellite (inframe_deletion +1 more)	THAP11-related disorder +1 more	GLikely benign
Select item 1581609	NM_020457.3(THAP11):c.367CAG[6] (p.Gln129_Gln132del)	CENPT, THAP11	Microsatellite (inframe_deletion +1 more)	THAP11-related disorder +1 more	GLikely benign
Select item 769902	NM_020457.3(THAP11):c.367CAG[9] (p.Gln132del)	CENPT, THAP11 (Q132del)	Microsatellite (inframe_deletion +1 more)	THAP11-related disorder +1 more	GBenign