"Baylor Genetics"[submitter] AND "PLEKHG2"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1034015	NM_022835.3(PLEKHG2):c.112C>T (p.Pro38Ser)	PLEKHG2 (P38S)	Single nucleotide variant (missense variant +1 more)	Leukodystrophy and acquired microcephaly with or without dystonia;	GUncertain significance
Select item 1034014	NM_022835.3(PLEKHG2):c.1046G>A (p.Arg349His)	PLEKHG2 (R290H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1034016	NM_022835.3(PLEKHG2):c.1358C>T (p.Pro453Leu)	PLEKHG2 (P394L +1 more)	Single nucleotide variant (missense variant)	Leukodystrophy and acquired microcephaly with or without dystonia;	GUncertain significance
Select item 1034018	NM_022835.3(PLEKHG2):c.1426C>T (p.Arg476Cys)	PLEKHG2 (R417C +1 more)	Single nucleotide variant (missense variant)	Leukodystrophy and acquired microcephaly with or without dystonia;	GUncertain significance
Select item 1034019	NM_022835.3(PLEKHG2):c.1677+5G>A	PLEKHG2	Single nucleotide variant (intron variant)	Leukodystrophy and acquired microcephaly with or without dystonia;	GUncertain significance
Select item 1029862	NM_022835.3(PLEKHG2):c.2543G>A (p.Arg848Gln)	PLEKHG2 (R789Q +1 more)	Single nucleotide variant (missense variant +1 more)	Leukodystrophy and acquired microcephaly with or without dystonia; +1 more	GUncertain significance
Select item 1034020	NM_022835.3(PLEKHG2):c.2998C>A (p.Pro1000Thr)	PLEKHG2 (P1000T +1 more)	Single nucleotide variant (missense variant +1 more)	Leukodystrophy and acquired microcephaly with or without dystonia;	GUncertain significance
Select item 1029863	NM_022835.3(PLEKHG2):c.3046G>A (p.Val1016Ile)	PLEKHG2 (V1016I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1034021	NM_022835.3(PLEKHG2):c.3202G>A (p.Asp1068Asn)	PLEKHG2 (D1068N +1 more)	Single nucleotide variant (missense variant +1 more)	Leukodystrophy and acquired microcephaly with or without dystonia;	GUncertain significance
Select item 1031349	NM_022835.3(PLEKHG2):c.3569A>T (p.Gln1190Leu)	PLEKHG2 (Q1190L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1029864	NM_022835.3(PLEKHG2):c.4012A>G (p.Thr1338Ala)	PLEKHG2 (T1338A)	Single nucleotide variant (missense variant +1 more)	Leukodystrophy and acquired microcephaly with or without dystonia;	GUncertain significance
Select item 1029865	NM_022835.3(PLEKHG2):c.4039G>A (p.Gly1347Arg)	PLEKHG2 (G1347R)	Single nucleotide variant (missense variant +1 more)	Leukodystrophy and acquired microcephaly with or without dystonia;	GUncertain significance
Select item 6828	NM_203486.3(DLL3):c.599_603dup (p.Pro202fs)	DLL3, LOC130064417 +1 more (P202fs)	Microsatellite (frameshift variant)	Leukodystrophy and acquired microcephaly with or without dystonia; +2 more	GPathogenic