ClinVar for MedGen (Select 908888) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584971	NM_022835.3(PLEKHG2):c.1270C>T (p.Gln424Ter)	PLEKHG2 (Q424* +1 more)	Single nucleotide variant (nonsense)	Leukodystrophy and acquired microcephaly with or without dystonia;	GLikely pathogenic
Select item 2516466	NM_022835.3(PLEKHG2):c.1570C>G (p.Pro524Ala)	PLEKHG2 (P465A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2486101	NM_022835.3(PLEKHG2):c.3106A>T (p.Thr1036Ser)	PLEKHG2 (T1036S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2063918	NM_022835.3(PLEKHG2):c.2284C>T (p.Arg762Cys)	PLEKHG2 (R703C +1 more)	Single nucleotide variant (missense variant +1 more)	Leukodystrophy and acquired microcephaly with or without dystonia; +2 more	GUncertain significance
Select item 1601166	NM_022835.3(PLEKHG2):c.995G>T (p.Gly332Val)	PLEKHG2 (G273V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1299696	NM_022835.3(PLEKHG2):c.2188G>A (p.Ala730Thr)	PLEKHG2 (A671T +1 more)	Single nucleotide variant (missense variant +1 more)	Leukodystrophy and acquired microcephaly with or without dystonia;	GUncertain significance
Select item 1299695	NM_022835.3(PLEKHG2):c.3272G>A (p.Gly1091Asp)	PLEKHG2 (G1032D +1 more)	Single nucleotide variant (missense variant +1 more)	Leukodystrophy and acquired microcephaly with or without dystonia;	GUncertain significance
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 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 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 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 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 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 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 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 1165033	NM_022835.3(PLEKHG2):c.2599+15C>T	PLEKHG2	Single nucleotide variant (intron variant)	Leukodystrophy and acquired microcephaly with or without dystonia; +1 more	GBenign
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 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 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 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 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 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)	Leukodystrophy and acquired microcephaly with or without dystonia; +1 more	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 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 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 1029863	NM_022835.3(PLEKHG2):c.3046G>A (p.Val1016Ile)	PLEKHG2 (V1016I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	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 982660	NM_022835.3(PLEKHG2):c.3007G>A (p.Ala1003Thr)	PLEKHG2 (A1003T +1 more)	Single nucleotide variant (missense variant +1 more)	Leukodystrophy and acquired microcephaly with or without dystonia; +2 more	GConflicting classifications of pathogenicity
Select item 638339	NM_022835.3(PLEKHG2):c.1042A>G (p.Lys348Glu)	PLEKHG2 (K348E +1 more)	Single nucleotide variant (missense variant)	Leukodystrophy and acquired microcephaly with or without dystonia;	GUncertain significance
Select item 522394	NM_022835.3(PLEKHG2):c.610C>T (p.Arg204Trp)	PLEKHG2 (R204W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 41378	NM_203486.3(DLL3):c.515T>G (p.Phe172Cys)	DLL3, LOC130064417 +1 more (F172C)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 6828	NM_203486.3(DLL3):c.599_603dup (p.Pro202fs)	DLL3, LOC130064417 +1 more (P202fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic

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Items: 33