ClinVar for MedGen (Select 863097) - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255217	NM_020442.6(VARS2):c.667G>T (p.Glu223Ter)	VARS2 (E223* +2 more)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 20	GPathogenic
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 2581609	NM_020442.6(VARS2):c.420del (p.Met141fs)	VARS2 (M141fs +1 more)	Deletion (5 prime UTR variant +1 more)	Combined oxidative phosphorylation defect type 20	GPathogenic
Select item 2577131	NM_020442.6(VARS2):c.1480-2A>G	VARS2	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation defect type 20	GLikely pathogenic
Select item 2438512	NM_020442.6(VARS2):c.3182C>T (p.Pro1061Leu)	VARS2 (P1061L +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 20	GUncertain significance
Select item 2438511	NM_020442.6(VARS2):c.1346G>A (p.Trp449Ter)	VARS2 (W309* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2438510	NM_020442.6(VARS2):c.2257C>T (p.Leu753Phe)	LOC126859646, VARS2 (L613F +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 20	GUncertain significance
Select item 1805727	NM_020442.6(VARS2):c.1066C>T (p.Arg356Ter)	VARS2 (R216* +2 more)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 20	GLikely pathogenic
Select item 1709117	NM_020442.6(VARS2):c.502C>T (p.Arg168Cys)	VARS2 (R168C +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 20 +1 more	GUncertain significance
Select item 1708949	NM_020442.6(VARS2):c.1583G>A (p.Trp528Ter)	VARS2 (W388* +2 more)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 20	GLikely pathogenic
Select item 1687509	NM_020442.6(VARS2):c.503G>A (p.Arg168His)	VARS2 (R168H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1341762	NM_020442.6(VARS2):c.1625A>G (p.His542Arg)	VARS2 (H402R +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 20	GUncertain significance
Select item 1333424	NM_020442.6(VARS2):c.2692G>T (p.Glu898Ter)	VARS2 (E758* +2 more)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 20	GLikely pathogenic
Select item 1333423	NM_020442.6(VARS2):c.1166-15G>T	VARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 20	GUncertain significance
Select item 1330531	NM_020442.6(VARS2):c.-18_-12del	VARS2 (P25fs)	Deletion (frameshift variant +2 more)	Combined oxidative phosphorylation defect type 20	GUncertain significance
Select item 1208429	NM_020442.6(VARS2):c.2589G>C (p.Glu863Asp)	VARS2 (E723D +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 20 +1 more	GConflicting classifications of pathogenicity
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 1032685	NM_020442.6(VARS2):c.3092T>G (p.Leu1031Arg)	VARS2 (L891R +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)	VARS2-related disorder +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)	not provided +2 more	GUncertain significance
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 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 1032679	NM_020442.6(VARS2):c.1954C>T (p.Arg652Trp)	LOC126859646, VARS2 (R512W +2 more)	Single nucleotide variant (missense variant)	See cases +3 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 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 1029204	NM_020442.6(VARS2):c.3005G>A (p.Arg1002Gln)	VARS2 (R862Q +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 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	GUncertain significance
Select item 997679	NM_020442.6(VARS2):c.2758T>C (p.Tyr920His)	VARS2 (Y780H +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 20	GPathogenic
Select item 933237	NM_020442.6(VARS2):c.2467-2A>G	VARS2	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation defect type 20 +1 more	GPathogenic/Likely pathogenic
Select item 933236	NM_020442.6(VARS2):c.1060G>A (p.Asp354Asn)	VARS2 (D384N +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 20	GPathogenic
Select item 933235	NM_020442.6(VARS2):c.2149G>A (p.Ala717Thr)	LOC126859646, VARS2 (A747T +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 20	GPathogenic
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 933233	NM_020442.6(VARS2):c.1456G>T (p.Glu486Ter)	VARS2 (E516* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 915300	NM_020442.6(VARS2):c.1637A>T (p.Glu546Val)	VARS2 (E406V +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 20	GUncertain significance
Select item 809891	NM_020442.6(VARS2):c.1691C>T (p.Ala564Val)	VARS2 (A424V +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 20 +2 more	GConflicting classifications of pathogenicity
Select item 802194	NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs)	LOC126859646, VARS2 (L472fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 676746	NM_020442.6(VARS2):c.574-42_574-35del	VARS2	Microsatellite (intron variant)	Combined oxidative phosphorylation defect type 20 +2 more	GBenign
Select item 638480	NM_020442.6(VARS2):c.104A>G (p.His35Arg)	VARS2 (H35R +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 20 +1 more	GUncertain significance
Select item 638479	NM_020442.6(VARS2):c.3020A>G (p.Gln1007Arg)	VARS2 (Q1007R +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 20 +1 more	GUncertain significance
Select item 522815	NM_020442.6(VARS2):c.986-14A>G	VARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 20	GUncertain significance
Select item 522814	NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)	VARS2 (A390T +2 more)	Single nucleotide variant (missense variant)	See cases +4 more	GConflicting classifications of pathogenicity
Select item 488638	NM_020442.6(VARS2):c.1463_1465del (p.Gly488del)	VARS2 (G488del +2 more)	Deletion (inframe_deletion)	Combined oxidative phosphorylation defect type 20	GLikely pathogenic
Select item 488637	NM_020442.6(VARS2):c.1400G>C (p.Arg467Pro)	VARS2 (R467P +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 20	GLikely pathogenic
Select item 488636	NM_020442.6(VARS2):c.511C>T (p.Arg171Trp)	VARS2 (R171W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 380163	NM_020442.6(VARS2):c.3033C>T (p.Asp1011=)	VARS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 380161	NM_020442.6(VARS2):c.2750G>A (p.Arg917Gln)	VARS2 (R917Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 380159	NM_020442.6(VARS2):c.2186-10T>C	LOC126859646, VARS2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 380157	NM_020442.6(VARS2):c.2038G>T (p.Val680Leu)	LOC126859646, VARS2 (V680L +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 380154	NM_020442.6(VARS2):c.1345T>C (p.Trp449Arg)	VARS2 (W449R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 380152	NM_020442.6(VARS2):c.1272C>T (p.Ser424=)	VARS2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 380148	NM_020442.6(VARS2):c.-28+82T>C	VARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 20 +2 more	GBenign
Select item 373702	NM_020442.6(VARS2):c.1850C>T (p.Thr617Met)	LOC126859646, VARS2 (T617M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 141427	NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile)	VARS2 (T367I +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 20 +2 more	GPathogenic
Select item 141426	NM_020442.6(VARS2):c.1787C>A (p.Ala596Asp)	LOC126859646, VARS2 (A626D +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 20	GPathogenic
Select item 141424	NM_020442.6(VARS2):c.1045G>A (p.Ala349Thr)	VARS2 (A379T +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 20	GPathogenic

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Items: 57