C4225213[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1165759	NM_022835.3(PLEKHG2):c.378+3A>G	PLEKHG2	Single nucleotide variant (intron variant)	Leukodystrophy and acquired microcephaly with or without dystonia; +1 more	GBenign
Select item 1165760	NM_022835.3(PLEKHG2):c.480-3T>C	PLEKHG2	Single nucleotide variant (intron variant)	Leukodystrophy and acquired microcephaly with or without dystonia; +1 more	GBenign
Select item 1165761	NM_022835.3(PLEKHG2):c.528C>T (p.Ala176=)	PLEKHG2	Single nucleotide variant (synonymous variant)	Leukodystrophy and acquired microcephaly with or without dystonia; +1 more	GBenign
Select item 1165762	NM_022835.3(PLEKHG2):c.912C>T (p.Thr304=)	PLEKHG2	Single nucleotide variant (synonymous variant)	Leukodystrophy and acquired microcephaly with or without dystonia; +1 more	GBenign
Select item 1166483	NM_022835.3(PLEKHG2):c.1940G>A (p.Arg647His)	PLEKHG2 (R588H +1 more)	Single nucleotide variant (missense variant +1 more)	Leukodystrophy and acquired microcephaly with or without dystonia; +1 more	GBenign
Select item 1165033	NM_022835.3(PLEKHG2):c.2599+15C>T	PLEKHG2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1165763	NM_022835.3(PLEKHG2):c.2975G>A (p.Arg992Lys)	PLEKHG2 (R933K +1 more)	Single nucleotide variant (missense variant +1 more)	Leukodystrophy and acquired microcephaly with or without dystonia; +1 more	GBenign
Select item 1165764	NM_022835.3(PLEKHG2):c.3864G>A (p.Gln1288=)	PLEKHG2	Single nucleotide variant (synonymous variant +1 more)	Leukodystrophy and acquired microcephaly with or without dystonia; +1 more	GBenign
Select item 1165765	NM_022835.3(PLEKHG2):c.3985C>G (p.Pro1329Ala)	PLEKHG2 (P1329A)	Single nucleotide variant (missense variant +1 more)	Leukodystrophy and acquired microcephaly with or without dystonia; +1 more	GBenign
Select item 41378	NM_203486.3(DLL3):c.515T>G (p.Phe172Cys)	DLL3, LOC130064417 +1 more (F172C)	Single nucleotide variant (missense variant)	Leukodystrophy and acquired microcephaly with or without dystonia; +4 more	GBenign