ClinVar for MedGen (Select 8484) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 915836	NM_016035.5(COQ4):c.[577C>T;718C>T]	COQ4 (R240C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Cerebellar ataxia +5 more	GPathogenic
Select item 523371	NM_000489.6(ATRX):c.5026G>T (p.Gly1676Cys)	ATRX (G1676C +1 more)	Single nucleotide variant (missense variant)	Absent speech +6 more	GLikely pathogenic
Select item 374054	NM_001083962.2(TCF4):c.500-1G>A	TCF4	Single nucleotide variant (splice acceptor variant)	Pitt-Hopkins syndrome +7 more	GPathogenic
Select item 268044	46;XX;ins(2;9)(q24.3;p22.1p24.3)dn		Translocation	Delayed speech and language development +19 more	GPathogenic
Select item 268043	46;XY;der(2)inv(2)(p21p22);der(5)t(5;7)(p14.3;q32);der(7)t(7;2;5)(7pter-7p22.3::7q32-7p22.3::5p14.3-5p15.1::2p22-2p21::5p15.1-5pter)dn		Complex	Setting-sun eye phenomenon +16 more	GPathogenic
Select item 268032	46;XY;t(2;10)(p15;p14)dn		Translocation	Specific learning disability +9 more	GUncertain significance
Select item 267929	46;XY;t(10;14)(p13;q32.1)dn		Translocation	Absent speech +4 more	GUncertain significance

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