LOC126859646[gene] - ClinVar

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Search results

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 1679763	Single allele	DDR1, GTF2H4 +8 more	Duplication	not provided	GUncertain significance
Select item 1343057	NM_020442.6(VARS2):c.1735+1G>T	LOC126859646, VARS2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1641713	NM_020442.6(VARS2):c.1736-19T>C	LOC126859646, VARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1605390	NM_020442.6(VARS2):c.1736-12T>C	LOC126859646, VARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1938107	NM_020442.6(VARS2):c.1736-11C>T	LOC126859646, VARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1965378	NM_020442.6(VARS2):c.1790T>C (p.Leu597Pro)	LOC126859646, VARS2 (L457P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301209	NM_020442.6(VARS2):c.1806+44G>T	LOC126859646, VARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1994793	NM_020442.6(VARS2):c.1807-14C>T	LOC126859646, VARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901123	NM_020442.6(VARS2):c.1807-3del	LOC126859646, VARS2	Deletion (intron variant)	not provided	GUncertain significance
Select item 2901124	NM_020442.6(VARS2):c.1807-1G>A	LOC126859646, VARS2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2068283	NM_020442.6(VARS2):c.1822C>T (p.Arg608Cys)	LOC126859646, VARS2 (R468C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 802194	NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs)	LOC126859646, VARS2 (L472fs +2 more)	Deletion (frameshift variant)	Combined oxidative phosphorylation defect type 20	GPathogenic/Likely pathogenic
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 1439573	NM_020442.6(VARS2):c.1851G>A (p.Thr617=)	LOC126859646, VARS2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 382114	NM_020442.6(VARS2):c.1864C>T (p.Leu622=)	LOC126859646, VARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2079035	NM_020442.6(VARS2):c.1886T>C (p.Met629Thr)	LOC126859646, VARS2 (M629T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188011	NM_020442.6(VARS2):c.1908C>T (p.Leu636=)	LOC126859646, VARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2056277	NM_020442.6(VARS2):c.1909A>G (p.Thr637Ala)	LOC126859646, VARS2 (T667A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2421247	NM_020442.6(VARS2):c.1925T>A (p.Phe642Tyr)	LOC126859646, VARS2 (F502Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1292277	NM_020442.6(VARS2):c.1932+37T>C	LOC126859646, VARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192999	NM_020442.6(VARS2):c.1933-69G>A	LOC126859646, VARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211498	NM_020442.6(VARS2):c.1933-33_1933-32insG	LOC126859646, VARS2	Insertion (intron variant)	not provided	GLikely benign
Select item 1230839	NM_020442.6(VARS2):c.1933-32A>G	LOC126859646, VARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207261	NM_020442.6(VARS2):c.1933-32A>C	LOC126859646, VARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250156	NM_020442.6(VARS2):c.1933-21T>C	LOC126859646, VARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300699	NM_020442.6(VARS2):c.1933-4C>T	LOC126859646, VARS2	Single nucleotide variant (intron variant)	VARS2-related condition +1 more	GBenign/Likely benign
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 1693907	NM_020442.6(VARS2):c.1955G>A (p.Arg652Gln)	LOC126859646, VARS2 (R512Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1392964	NM_020442.6(VARS2):c.1969C>T (p.Arg657Trp)	LOC126859646, VARS2 (R657W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2477481	NM_020442.6(VARS2):c.2006C>A (p.Pro669Gln)	LOC126859646, VARS2 (P669Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1925228	NM_020442.6(VARS2):c.2008A>G (p.Arg670Gly)	LOC126859646, VARS2 (R670G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929580	NM_020442.6(VARS2):c.2023G>C (p.Gly675Arg)	LOC126859646, VARS2 (G675R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3188201	NM_020442.6(VARS2):c.2026G>T (p.Val676Leu)	LOC126859646, VARS2 (V706L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1424133	NM_020442.6(VARS2):c.2036A>G (p.Gln679Arg)	LOC126859646, VARS2 (Q539R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308350	NM_020442.6(VARS2):c.2037G>T (p.Gln679His)	LOC126859646, VARS2 (Q539H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1244612	NM_020442.6(VARS2):c.2038-52A>G	LOC126859646, VARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2880092	NM_020442.6(VARS2):c.2038-13dup	LOC126859646, VARS2	Duplication (intron variant)	not provided	GBenign
Select item 1648813	NM_020442.6(VARS2):c.2038-14C>A	LOC126859646, VARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2414288	NM_020442.6(VARS2):c.2038-2A>G	LOC126859646, VARS2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 380157	NM_020442.6(VARS2):c.2038G>T (p.Val680Leu)	LOC126859646, VARS2 (V680L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2206696	NM_020442.6(VARS2):c.2046G>C (p.Gln682His)	LOC126859646, VARS2 (Q682H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1301025	NM_020442.6(VARS2):c.2061C>T (p.Ser687=)	LOC126859646, VARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2512575	NM_020442.6(VARS2):c.2062G>A (p.Gly688Arg)	LOC126859646, VARS2 (G548R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1201404	NM_020442.6(VARS2):c.2090T>C (p.Ile697Thr)	LOC126859646, VARS2 (I557T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3188202	NM_020442.6(VARS2):c.2102C>A (p.Ala701Glu)	LOC126859646, VARS2 (A701E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2736811	NM_020442.6(VARS2):c.2106+9T>C	LOC126859646, VARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990038	NM_020442.6(VARS2):c.2106+11G>A	LOC126859646, VARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 392135	NM_020442.6(VARS2):c.2106+18G>A	LOC126859646, VARS2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 380158	NM_020442.6(VARS2):c.2106+18G>T	LOC126859646, VARS2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1168636	NM_020442.6(VARS2):c.2107-22CTT[2]	LOC126859646, VARS2	Microsatellite (intron variant)	not provided	GBenign
Select item 388159	NM_020442.6(VARS2):c.2107-13C>T	LOC126859646, VARS2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1368435	NM_020442.6(VARS2):c.2108A>G (p.Lys703Arg)	LOC126859646, VARS2 (K563R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 680354	NM_020442.6(VARS2):c.2124C>T (p.His708=)	LOC126859646, VARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1908256	NM_020442.6(VARS2):c.2185+19T>G	LOC126859646, VARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270566	NM_020442.6(VARS2):c.2185+36G>A	LOC126859646, VARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380159	NM_020442.6(VARS2):c.2186-10T>C	LOC126859646, VARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 20 +2 more	GBenign
Select item 2994839	NM_020442.6(VARS2):c.2186-7C>G	LOC126859646, VARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2020539	NM_020442.6(VARS2):c.2186-2A>G	LOC126859646, VARS2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1981350	NM_020442.6(VARS2):c.2186C>T (p.Ala729Val)	LOC126859646, VARS2 (A759V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2087771	NM_020442.6(VARS2):c.2224T>G (p.Cys742Gly)	LOC126859646, VARS2 (C602G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373703	NM_020442.6(VARS2):c.2228G>A (p.Arg743Gln)	LOC126859646, VARS2 (R743Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188203	NM_020442.6(VARS2):c.2255C>G (p.Ala752Gly)	LOC126859646, VARS2 (A612G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2062796	NM_020442.6(VARS2):c.2260C>T (p.Arg754Cys)	LOC126859646, VARS2 (R754C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1988826	NM_020442.6(VARS2):c.2261G>A (p.Arg754His)	LOC126859646, VARS2 (R754H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1684115	NM_020442.6(VARS2):c.2292_2295delinsACCT (p.Phe764_Val765delinsLeuPro)	LOC126859646, VARS2	Indel (missense variant)	not provided	GUncertain significance
Select item 377004	NM_020442.6(VARS2):c.2293G>A (p.Val765Met)	LOC126859646, VARS2 (V765M +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1634656	NM_020442.6(VARS2):c.2314-13C>T	LOC126859646, VARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1581599	NM_020442.6(VARS2):c.2322C>G (p.Pro774=)	LOC126859646, VARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1536463	NM_020442.6(VARS2):c.2322C>T (p.Pro774=)	LOC126859646, VARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1562972	NM_020442.6(VARS2):c.2325C>T (p.Ser775=)	LOC126859646, VARS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 380176	NM_020442.6(VARS2):c.2328C>T (p.Ser776=)	LOC126859646, VARS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 559215	NM_020442.6(VARS2):c.2330C>T (p.Pro777Leu)	LOC126859646, VARS2 (P777L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1417493	NM_020442.6(VARS2):c.2353C>T (p.Arg785Cys)	LOC126859646, VARS2 (R785C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1421758	NM_020442.6(VARS2):c.2354G>A (p.Arg785His)	LOC126859646, VARS2 (R645H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1430233	NM_020442.6(VARS2):c.2375A>G (p.Glu792Gly)	LOC126859646, VARS2 (E822G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1922498	NM_020442.6(VARS2):c.2378G>A (p.Cys793Tyr)	LOC126859646, VARS2 (C653Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1941227	NM_020442.6(VARS2):c.2383C>T (p.Arg795Trp)	LOC126859646, VARS2 (R825W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 82