"Baylor Genetics"[submitter] AND "VPS11"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029819	NM_021729.6(VPS11):c.367G>A (p.Gly123Ser)	VPS11 (G113S +3 more)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 12 +1 more	GConflicting classifications of pathogenicity
Select item 2441897	NM_021729.6(VPS11):c.976G>A (p.Val326Ile)	VPS11 (V316I +3 more)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 12	GUncertain significance
Select item 1032881	NM_021729.6(VPS11):c.1085A>T (p.Glu362Val)	VPS11 (E356V +3 more)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 12	GUncertain significance
Select item 790365	NM_021729.6(VPS11):c.2078T>C (p.Met693Thr)	VPS11 (M683T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1032882	NM_021729.6(VPS11):c.2384G>A (p.Arg795Gln)	VPS11 (R789Q +4 more)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 12 +1 more	GUncertain significance
Select item 218366	NM_021729.6(VPS11):c.2536T>G (p.Cys846Gly)	VPS11 (C846G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1032883	NM_021729.6(VPS11):c.2806C>T (p.His936Tyr)	VPS11 (H936Y +4 more)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 12 +1 more	GUncertain significance
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +177 more	Copy number gain	not provided	GPathogenic