ClinVar for MedGen (Select 863097) - ClinVar

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Items: 56

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25825411.	NM_020442.6(VARS2):c.842G>A (p.Cys281Tyr) GRCh37: Chr6:30884970 GRCh38: Chr6:30917193	VARS2	C141Y, C281Y, C311Y	Combined oxidative phosphorylation defect type 20	Uncertain significance (May 25, 2023)	criteria provided, single submitter
Select item 25816092.	NM_020442.6(VARS2):c.420del (p.Met141fs) GRCh37: Chr6:30883557 GRCh38: Chr6:30915780	VARS2	M141fs, M171fs	Combined oxidative phosphorylation defect type 20	Pathogenic (Aug 9, 2023)	criteria provided, single submitter
Select item 25771313.	NM_020442.6(VARS2):c.1480-2A>G GRCh37: Chr6:30888840 GRCh38: Chr6:30921063	VARS2		Combined oxidative phosphorylation defect type 20	Likely pathogenic (Jul 28, 2023)	criteria provided, single submitter
Select item 24385124.	NM_020442.6(VARS2):c.3182C>T (p.Pro1061Leu) GRCh37: Chr6:30893977 GRCh38: Chr6:30926200	VARS2	P1061L, P1091L, P921L	Combined oxidative phosphorylation defect type 20	Uncertain significance (Nov 6, 2020)	criteria provided, single submitter
Select item 24385115.	NM_020442.6(VARS2):c.1346G>A (p.Trp449Ter) GRCh37: Chr6:30888162 GRCh38: Chr6:30920385	VARS2	W309, W449, W479*	Combined oxidative phosphorylation defect type 20	Conflicting interpretations of pathogenicity (Aug 24, 2023)	criteria provided, conflicting interpretations
Select item 24385106.	NM_020442.6(VARS2):c.2257C>T (p.Leu753Phe) GRCh37: Chr6:30890952 GRCh38: Chr6:30923175	LOC126859646, VARS2	L613F, L753F, L783F	Combined oxidative phosphorylation defect type 20	Uncertain significance (Jan 6, 2023)	criteria provided, single submitter
Select item 18057277.	NM_020442.6(VARS2):c.1066C>T (p.Arg356Ter) GRCh37: Chr6:30886684 GRCh38: Chr6:30918907	VARS2	R216, R356, R386*	Combined oxidative phosphorylation defect type 20	Likely pathogenic (May 21, 2020)	criteria provided, single submitter
Select item 17091178.	NM_020442.6(VARS2):c.502C>T (p.Arg168Cys) GRCh37: Chr6:30883640 GRCh38: Chr6:30915863	VARS2	R168C, R198C, R28C	not provided, Combined oxidative phosphorylation defect type 20	Uncertain significance (Dec 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17089499.	NM_020442.6(VARS2):c.1583G>A (p.Trp528Ter) GRCh37: Chr6:30889033 GRCh38: Chr6:30921256	VARS2	W388, W528, W558*	Combined oxidative phosphorylation defect type 20	Likely pathogenic (Oct 22, 2021)	criteria provided, single submitter
Select item 168750910.	NM_020442.6(VARS2):c.503G>A (p.Arg168His) GRCh37: Chr6:30883641 GRCh38: Chr6:30915864	VARS2	R168H, R198H, R28H	Combined oxidative phosphorylation defect type 20, not provided	Uncertain significance (May 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134176211.	NM_020442.6(VARS2):c.1625A>G (p.His542Arg) GRCh37: Chr6:30889075 GRCh38: Chr6:30921298	VARS2	H402R, H542R, H572R	Combined oxidative phosphorylation defect type 20	Uncertain significance (Jun 12, 2020)	criteria provided, single submitter
Select item 133342412.	NM_020442.6(VARS2):c.2692G>T (p.Glu898Ter) GRCh37: Chr6:30893069 GRCh38: Chr6:30925292	VARS2	E758, E898, E928*	Combined oxidative phosphorylation defect type 20	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 133342313.	NM_020442.6(VARS2):c.1166-15G>T GRCh37: Chr6:30887851 GRCh38: Chr6:30920074	VARS2		Combined oxidative phosphorylation defect type 20	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 133053114.	NM_020442.6(VARS2):c.-18_-12del GRCh37: Chr6:30882594-30882600 GRCh38: Chr6:30914817-30914823	VARS2	P25fs	Combined oxidative phosphorylation defect type 20	Uncertain significance (Feb 25, 2021)	criteria provided, single submitter
Select item 120842915.	NM_020442.6(VARS2):c.2589G>C (p.Glu863Asp) GRCh37: Chr6:30892253 GRCh38: Chr6:30924476	VARS2	E723D, E863D, E893D	not provided, Combined oxidative phosphorylation defect type 20	Conflicting interpretations of pathogenicity (May 12, 2023)	criteria provided, conflicting interpretations
Select item 103268616.	NM_020442.6(VARS2):c.736T>C (p.Cys246Arg) GRCh37: Chr6:30884719 GRCh38: Chr6:30916942	VARS2	C106R, C246R, C276R	Combined oxidative phosphorylation defect type 20, not provided	Conflicting interpretations of pathogenicity (Apr 12, 2022)	criteria provided, conflicting interpretations
Select item 103268517.	NM_020442.6(VARS2):c.3092T>G (p.Leu1031Arg) GRCh37: Chr6:30893887 GRCh38: Chr6:30926110	VARS2	L891R, L1031R, L1061R	Inborn genetic diseases, not provided, Combined oxidative phosphorylation defect type 20	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103268318.	NM_020442.6(VARS2):c.2684G>A (p.Arg895His) GRCh37: Chr6:30893061 GRCh38: Chr6:30925284	VARS2	R755H, R925H, R895H	Combined oxidative phosphorylation defect type 20	Uncertain significance (Jan 22, 2018)	criteria provided, single submitter
Select item 103268219.	NM_020442.6(VARS2):c.2624C>T (p.Pro875Leu) GRCh37: Chr6:30892288 GRCh38: Chr6:30924511	VARS2	P875L, P905L, P735L	Inborn genetic diseases, Combined oxidative phosphorylation defect type 20, not provided	Uncertain significance (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103268120.	NM_020442.6(VARS2):c.142C>G (p.Gln48Glu) GRCh37: Chr6:30882755 GRCh38: Chr6:30914978	VARS2	Q48E, Q78E	Inborn genetic diseases, Combined oxidative phosphorylation defect type 20	Uncertain significance (Jun 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 103268021.	NM_020442.6(VARS2):c.2038-1G>A GRCh37: Chr6:30890482 GRCh38: Chr6:30922705	LOC126859646, VARS2		Combined oxidative phosphorylation defect type 20	Pathogenic (Feb 1, 2018)	criteria provided, single submitter
Select item 103267922.	NM_020442.6(VARS2):c.1954C>T (p.Arg652Trp) GRCh37: Chr6:30890248 GRCh38: Chr6:30922471	LOC126859646, VARS2	R512W, R652W, R682W	Inborn genetic diseases, Combined oxidative phosphorylation defect type 20, not provided, See cases	Uncertain significance (Aug 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 102920623.	NM_020442.6(VARS2):c.631C>T (p.Arg211Trp) GRCh37: Chr6:30883986 GRCh38: Chr6:30916209	VARS2	R71W, R241W, R211W	Combined oxidative phosphorylation defect type 20, not provided	Uncertain significance (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102920524.	NM_020442.6(VARS2):c.275A>G (p.Glu92Gly) GRCh37: Chr6:30883006 GRCh38: Chr6:30915229	VARS2	E122G, E92G	Combined oxidative phosphorylation defect type 20, not provided	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102920425.	NM_020442.6(VARS2):c.3005G>A (p.Arg1002Gln) GRCh37: Chr6:30893700 GRCh38: Chr6:30925923	VARS2	R862Q, R1032Q, R1002Q	Combined oxidative phosphorylation defect type 20, not provided	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102920326.	NM_020442.6(VARS2):c.2869_2876dup (p.Leu961fs) GRCh37: Chr6:30893396-30893397 GRCh38: Chr6:30925619-30925620	VARS2	L821fs, L991fs, L961fs	Combined oxidative phosphorylation defect type 20	Likely pathogenic (Nov 15, 2019)	criteria provided, single submitter
Select item 102920227.	NM_020442.6(VARS2):c.2501G>A (p.Arg834His) GRCh37: Chr6:30892165 GRCh38: Chr6:30924388	VARS2	R834H, R694H, R864H	Combined oxidative phosphorylation defect type 20	Uncertain significance (Mar 8, 2019)	criteria provided, single submitter
Select item 99767928.	NM_020442.6(VARS2):c.2758T>C (p.Tyr920His) GRCh37: Chr6:30893135 GRCh38: Chr6:30925358	VARS2	Y780H, Y920H, Y950H	Combined oxidative phosphorylation defect type 20	Pathogenic (Feb 22, 2021)	no assertion criteria provided
Select item 93323729.	NM_020442.6(VARS2):c.2467-2A>G GRCh37: Chr6:30892129 GRCh38: Chr6:30924352	VARS2		Combined oxidative phosphorylation defect type 20, not provided	Pathogenic/Likely pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93323630.	NM_020442.6(VARS2):c.1060G>A (p.Asp354Asn) GRCh37: Chr6:30886678 GRCh38: Chr6:30918901	VARS2	D384N, D214N, D354N	Combined oxidative phosphorylation defect type 20	Pathogenic (Jul 9, 2020)	no assertion criteria provided
Select item 93323531.	NM_020442.6(VARS2):c.2149G>A (p.Ala717Thr) GRCh37: Chr6:30890717 GRCh38: Chr6:30922940	LOC126859646, VARS2	A747T, A577T, A717T	Combined oxidative phosphorylation defect type 20	Pathogenic (Jul 9, 2020)	no assertion criteria provided
Select item 93323432.	NM_020442.6(VARS2):c.1400G>A (p.Arg467His) GRCh37: Chr6:30888447 GRCh38: Chr6:30920670	VARS2	R497H, R327H, R467H	Combined oxidative phosphorylation defect type 20	Uncertain significance (Dec 19, 2018)	criteria provided, single submitter
Select item 93323333.	NM_020442.6(VARS2):c.1456G>T (p.Glu486Ter) GRCh37: Chr6:30888503 GRCh38: Chr6:30920726	VARS2	E516, E346, E486*	Combined oxidative phosphorylation defect type 20, not provided, Inborn genetic diseases	Pathogenic/Likely pathogenic (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91530034.	NM_020442.6(VARS2):c.1637A>T (p.Glu546Val) GRCh37: Chr6:30889370 GRCh38: Chr6:30921593	VARS2	E406V, E546V, E576V	Combined oxidative phosphorylation defect type 20	Uncertain significance (May 3, 2020)	criteria provided, single submitter
Select item 80989135.	NM_020442.6(VARS2):c.1691C>T (p.Ala564Val) GRCh37: Chr6:30889424 GRCh38: Chr6:30921647	VARS2	A424V, A564V, A594V	not specified, not provided, Combined oxidative phosphorylation defect type 20	Conflicting interpretations of pathogenicity (Aug 10, 2023)	criteria provided, conflicting interpretations
Select item 80219436.	NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs) GRCh37: Chr6:30889920-30889921 GRCh38: Chr6:30922143-30922144	LOC126859646, VARS2	L472fs, L612fs, L642fs	Combined oxidative phosphorylation defect type 20	Pathogenic/Likely pathogenic (Mar 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 67674637.	NM_020442.6(VARS2):c.574-42_574-35del GRCh37: Chr6:30883879-30883886 GRCh38: Chr6:30916102-30916109	VARS2		not provided, Combined oxidative phosphorylation defect type 20	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63848038.	NM_020442.6(VARS2):c.104A>G (p.His35Arg) GRCh37: Chr6:30882717 GRCh38: Chr6:30914940	VARS2	H35R, H65R	Inborn genetic diseases, Combined oxidative phosphorylation defect type 20	Uncertain significance (Mar 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63847939.	NM_020442.6(VARS2):c.3020A>G (p.Gln1007Arg) GRCh37: Chr6:30893715 GRCh38: Chr6:30925938	VARS2	Q1007R, Q1037R, Q867R	Combined oxidative phosphorylation defect type 20, not provided	Uncertain significance (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52281540.	NM_020442.6(VARS2):c.986-14A>G GRCh37: Chr6:30886590 GRCh38: Chr6:30918813	VARS2		Combined oxidative phosphorylation defect type 20	Uncertain significance (May 4, 2017)	criteria provided, single submitter
Select item 52281441.	NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr) GRCh37: Chr6:30887868 GRCh38: Chr6:30920091	VARS2	A390T, A420T, A250T	VARS2-related condition, Inborn genetic diseases, not provided, See cases, Combined oxidative phosphorylation defect type 20	Conflicting interpretations of pathogenicity (Nov 6, 2023)	criteria provided, conflicting interpretations
Select item 48863842.	NM_020442.6(VARS2):c.1463_1465del (p.Gly488del) GRCh37: Chr6:30888508-30888510 GRCh38: Chr6:30920731-30920733	VARS2	G488del, G348del, G518del	Combined oxidative phosphorylation defect type 20	Likely pathogenic (Nov 8, 2017)	criteria provided, single submitter
Select item 48863743.	NM_020442.6(VARS2):c.1400G>C (p.Arg467Pro) GRCh37: Chr6:30888447 GRCh38: Chr6:30920670	VARS2	R467P, R327P, R497P	Combined oxidative phosphorylation defect type 20	Likely pathogenic (Nov 8, 2017)	criteria provided, single submitter
Select item 48863644.	NM_020442.6(VARS2):c.511C>T (p.Arg171Trp) GRCh37: Chr6:30883762 GRCh38: Chr6:30915985	VARS2	R171W, R201W, R31W	Inborn genetic diseases, not provided, Combined oxidative phosphorylation defect type 20	Conflicting interpretations of pathogenicity (Jan 1, 2023)	criteria provided, conflicting interpretations
Select item 44560845.	NM_020442.6(VARS2):c.2551C>T (p.Arg851Cys) GRCh37: Chr6:30892215 GRCh38: Chr6:30924438	VARS2	R851C, R881C, R711C	Combined oxidative phosphorylation defect type 20, not provided	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 38016346.	NM_020442.6(VARS2):c.3033C>T (p.Asp1011=) GRCh37: Chr6:30893728 GRCh38: Chr6:30925951	VARS2		not specified, not provided, Combined oxidative phosphorylation defect type 20	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38016147.	NM_020442.6(VARS2):c.2750G>A (p.Arg917Gln) GRCh37: Chr6:30893127 GRCh38: Chr6:30925350	VARS2	R917Q, R947Q, R777Q	Combined oxidative phosphorylation defect type 20, not specified, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38015948.	NM_020442.6(VARS2):c.2186-10T>C GRCh37: Chr6:30890871 GRCh38: Chr6:30923094	LOC126859646, VARS2		not specified, not provided, Combined oxidative phosphorylation defect type 20	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38015749.	NM_020442.6(VARS2):c.2038G>T (p.Val680Leu) GRCh37: Chr6:30890483 GRCh38: Chr6:30922706	LOC126859646, VARS2	V680L, V710L, V540L	not specified, not provided, Combined oxidative phosphorylation defect type 20	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38015450.	NM_020442.6(VARS2):c.1345T>C (p.Trp449Arg) GRCh37: Chr6:30888161 GRCh38: Chr6:30920384	VARS2	W449R, W479R, W309R	not provided, not specified, Combined oxidative phosphorylation defect type 20	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38015251.	NM_020442.6(VARS2):c.1272C>T (p.Ser424=) GRCh37: Chr6:30887972 GRCh38: Chr6:30920195	VARS2		not specified, not provided, Combined oxidative phosphorylation defect type 20	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38014852.	NM_020442.6(VARS2):c.-28+82T>C GRCh37: Chr6:30882203 GRCh38: Chr6:30914426	VARS2		not specified, not provided, Combined oxidative phosphorylation defect type 20	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37370253.	NM_020442.6(VARS2):c.1850C>T (p.Thr617Met) GRCh37: Chr6:30889936 GRCh38: Chr6:30922159	LOC126859646, VARS2	T617M, T647M, T477M	not specified	Uncertain significance (Dec 15, 2016)	criteria provided, single submitter
Select item 14142754.	NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile) GRCh37: Chr6:30886628 GRCh38: Chr6:30918851	VARS2	T367I, T337I, T197I	Inborn genetic diseases, Combined oxidative phosphorylation defect type 20, not provided	Pathogenic (Jun 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 14142655.	NM_020442.6(VARS2):c.1787C>A (p.Ala596Asp) GRCh37: Chr6:30889753 GRCh38: Chr6:30921976	LOC126859646, VARS2	A626D, A596D, A456D	Combined oxidative phosphorylation defect type 20	Pathogenic (Jul 2, 2014)	no assertion criteria provided
Select item 14142456.	NM_020442.6(VARS2):c.1045G>A (p.Ala349Thr) GRCh37: Chr6:30886663 GRCh38: Chr6:30918886	VARS2	A379T, A349T, A209T	Combined oxidative phosphorylation defect type 20	Pathogenic (Jul 2, 2014)	no assertion criteria provided

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Items: 56