ClinVar for MedGen (Select 220865) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1183972	NM_014846.4(WASHC5):c.1275dup (p.Glu426fs)	WASHC5 (E278fs +1 more)	Duplication (frameshift variant)	Lower limb spasticity	GLikely pathogenic
Select item 979170	NM_183075.3(CYP2U1):c.604G>A (p.Glu202Lys)	CYP2U1 (E202K)	Single nucleotide variant (missense variant)	Seizure +2 more	GPathogenic
Select item 873154	NM_005957.5(MTHFR):c.1517A>G (p.Tyr506Cys)	MTHFR (Y506C +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GUncertain significance
Select item 813843	GRCh37/hg19 15q24.1(chr15:73525422-73571525)x1	NEO1	Copy number loss	Neurodevelopmental delay +1 more	GUncertain significance
Select item 635969	NM_199342.4(SVBP):c.39_42del (p.Lys13fs)	SVBP (K13fs)	Deletion (frameshift variant)	Microcephaly +2 more	GPathogenic
Select item 635968	NM_199342.4(SVBP):c.82C>T (p.Gln28Ter)	SVBP (Q28*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly +4 more	GPathogenic/Likely pathogenic
Select item 560227	NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln)	ATP6V0A1 (R741Q +22 more)	Single nucleotide variant (missense variant)	not provided +13 more	GPathogenic/Likely pathogenic
Select item 267830	46;X;t(X;5)(q24;q13)dn		Translocation	Growth delay +20 more	GPathogenic

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