"Baylor Genetics"[submitter] AND "VARS2"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1032681	NM_020442.6(VARS2):c.142C>G (p.Gln48Glu)	VARS2 (Q48E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1029205	NM_020442.6(VARS2):c.275A>G (p.Glu92Gly)	VARS2 (E122G +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Combined oxidative phosphorylation defect type 20 +1 more	GUncertain significance
Select item 1029206	NM_020442.6(VARS2):c.631C>T (p.Arg211Trp)	VARS2 (R71W +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 20 +1 more	GUncertain significance
Select item 1032686	NM_020442.6(VARS2):c.736T>C (p.Cys246Arg)	VARS2 (C106R +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 20 +1 more	GConflicting classifications of pathogenicity
Select item 2582541	NM_020442.6(VARS2):c.842G>A (p.Cys281Tyr)	VARS2 (C141Y +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 20	GUncertain significance
Select item 933234	NM_020442.6(VARS2):c.1400G>A (p.Arg467His)	VARS2 (R497H +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 20	GUncertain significance
Select item 1032679	NM_020442.6(VARS2):c.1954C>T (p.Arg652Trp)	LOC126859646, VARS2 (R512W +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1032680	NM_020442.6(VARS2):c.2038-1G>A	LOC126859646, VARS2	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation defect type 20	GPathogenic
Select item 1029202	NM_020442.6(VARS2):c.2501G>A (p.Arg834His)	VARS2 (R834H +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 20 +1 more	GUncertain significance
Select item 445608	NM_020442.6(VARS2):c.2551C>T (p.Arg851Cys)	VARS2 (R851C +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 20 +1 more	GConflicting classifications of pathogenicity
Select item 1032682	NM_020442.6(VARS2):c.2624C>T (p.Pro875Leu)	VARS2 (P875L +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 20 +2 more	GUncertain significance
Select item 1032683	NM_020442.6(VARS2):c.2684G>A (p.Arg895His)	VARS2 (R755H +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 20 +1 more	GUncertain significance
Select item 1029203	NM_020442.6(VARS2):c.2869_2876dup (p.Leu961fs)	VARS2 (L821fs +2 more)	Duplication (frameshift variant)	Combined oxidative phosphorylation defect type 20	GLikely pathogenic
Select item 1029204	NM_020442.6(VARS2):c.3005G>A (p.Arg1002Gln)	VARS2 (R862Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1032685	NM_020442.6(VARS2):c.3092T>G (p.Leu1031Arg)	VARS2 (L891R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic