"GeneDx"[submitter] AND "VARS1"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029030	NM_006295.3(VARS1):c.3650G>A (p.Arg1217His)	VARS1 (R1217H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1196166	NM_006295.3(VARS1):c.2954G>A (p.Arg985His)	VARS1 (R985H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 559838	NM_006295.3(VARS1):c.2840G>A (p.Arg947His)	VARS1 (R947H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 561999	NM_006295.3(VARS1):c.2825G>A (p.Arg942Gln)	VARS1 (R942Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2662032	NM_006295.3(VARS1):c.2758G>A (p.Asp920Asn)	VARS1 (D920N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662648	NM_006295.3(VARS1):c.2597C>G (p.Ser866Cys)	VARS1 (S866C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501912	NM_006295.3(VARS1):c.2566C>G (p.Arg856Gly)	VARS1 (R856G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1697999	NM_006295.3(VARS1):c.2370G>A (p.Trp790Ter)	VARS1 (W790*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1199212	NM_006295.3(VARS1):c.2254C>T (p.Arg752Trp)	VARS1 (R752W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy +2 more	GUncertain significance
Select item 2662923	NM_006295.3(VARS1):c.2119C>T (p.Arg707Cys)	VARS1 (R707C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 673970	NM_006295.3(VARS1):c.1876C>T (p.Pro626Ser)	VARS1 (P626S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1695154	NM_006295.3(VARS1):c.1853G>A (p.Arg618Gln)	VARS1 (R618Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1219611	NM_006295.3(VARS1):c.1843A>G (p.Met615Val)	VARS1 (M615V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2571933	NM_006295.3(VARS1):c.1277G>A (p.Arg426Gln)	VARS1 (R426Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304148	NM_006295.3(VARS1):c.1147C>G (p.His383Asp)	VARS1 (H383D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1004093	NM_006295.3(VARS1):c.1031C>G (p.Pro344Arg)	VARS1 (P344R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3340363	NM_006295.3(VARS1):c.871+1G>C	LOC126859651, VARS1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1305253	NM_006295.3(VARS1):c.859G>A (p.Gly287Arg)	LOC126859651, VARS1 (G287R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2571706	NM_006295.3(VARS1):c.638C>T (p.Ala213Val)	LOC126859651, VARS1 (A213V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501936	NM_006295.3(VARS1):c.220G>T (p.Ala74Ser)	VARS1 (A74S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 20