VARS2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	AARS2, ABCC10 +2577 more	Copy number gain	See cases	GPathogenic
Select item 1679763	Single allele	DDR1, GTF2H4 +8 more	Duplication	not provided	GUncertain significance
Select item 1191473	NM_001517.5(GTF2H4):c.*39T>A	GTF2H4, VARS2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1236362	NM_001517.5(GTF2H4):c.*121del	GTF2H4, VARS2	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1203746	NC_000006.12:g.30914118_30914129del	VARS2	Deletion	not provided	GLikely benign
Select item 507743	NM_020442.6(VARS2):c.-36G>A	VARS2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 383278	NM_020442.6(VARS2):c.-28+14G>C	VARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 380148	NM_020442.6(VARS2):c.-28+82T>C	VARS2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1412694	NM_020442.6(VARS2):c.-28+87C>T	VARS2 (P7L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1254460	NM_020442.6(VARS2):c.-28+89C>T	VARS2 (R8C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2351837	NM_020442.6(VARS2):c.-28+114G>T	VARS2 (G16V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2623411	NM_020442.6(VARS2):c.-28+120G>A	VARS2 (C18Y)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1271839	NM_020442.6(VARS2):c.-28+156C>T	VARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673366	NM_020442.6(VARS2):c.-27-172C>T	VARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676459	NM_020442.6(VARS2):c.-27-156C>T	VARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197970	NM_020442.6(VARS2):c.-27-81T>C	VARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247754	NM_020442.6(VARS2):c.-27-74A>G	VARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2973222	NM_020442.6(VARS2):c.-27-22G>A	VARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843858	NM_020442.6(VARS2):c.-27-21C>G	VARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 421312	NM_020442.6(VARS2):c.-27-21CT[4]	VARS2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 559214	NM_020442.6(VARS2):c.-27-1G>T	VARS2 (Q21H)	Single nucleotide variant (missense variant +2 more)	not provided	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 1477861	NM_020442.6(VARS2):c.12_13delinsTT (p.Leu4_Pro5delinsPheSer)	VARS2	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2318037	NM_020442.6(VARS2):c.14C>A (p.Pro5His)	VARS2 (P35H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1625249	NM_020442.6(VARS2):c.18C>T (p.Leu6=)	VARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 380149	NM_020442.6(VARS2):c.21C>T (p.Ala7=)	VARS2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 1300565	NM_020442.6(VARS2):c.23C>A (p.Ser8Tyr)	VARS2 (S38Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1584604	NM_020442.6(VARS2):c.69C>G (p.Pro23=)	VARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 507521	NM_020442.6(VARS2):c.69C>A (p.Pro23=)	VARS2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 380188	NM_020442.6(VARS2):c.76C>T (p.His26Tyr)	VARS2 (H26Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1966061	NM_020442.6(VARS2):c.81C>T (p.Ser27=)	VARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2691320	NM_020442.6(VARS2):c.100C>G (p.Pro34Ala)	VARS2 (P34A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2748575	NM_020442.6(VARS2):c.105T>C (p.His35=)	VARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1962096	NM_020442.6(VARS2):c.109T>C (p.Ser37Pro)	VARS2 (S67P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2969687	NM_020442.6(VARS2):c.124A>C (p.Arg42=)	VARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3188204	NM_020442.6(VARS2):c.161A>C (p.Lys54Thr)	VARS2 (K54T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 380150	NM_020442.6(VARS2):c.168G>T (p.Ala56=)	VARS2	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GBenign
Select item 2189480	NM_020442.6(VARS2):c.182A>C (p.Glu61Ala)	VARS2 (E61A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 380189	NM_020442.6(VARS2):c.190G>A (p.Gly64Arg)	VARS2 (G64R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 1255276	NM_020442.6(VARS2):c.201+42A>G	VARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1904365	NM_020442.6(VARS2):c.202-19T>C	VARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900565	NM_020442.6(VARS2):c.202-4T>C	VARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2486351	NM_020442.6(VARS2):c.251A>T (p.Tyr84Phe)	VARS2 (Y84F +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1473241	NM_020442.6(VARS2):c.251A>G (p.Tyr84Cys)	VARS2 (Y114C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1217942	NM_020442.6(VARS2):c.251_270del (p.Tyr84fs)	VARS2 (Y114fs +1 more)	Deletion (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 1403682	NM_020442.6(VARS2):c.263C>T (p.Thr88Met)	VARS2 (T118M +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +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 516755	NM_020442.6(VARS2):c.283+3A>G	VARS2	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2975548	NM_020442.6(VARS2):c.284-14C>T	VARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801095	NM_020442.6(VARS2):c.284-14C>G	VARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1479813	NM_020442.6(VARS2):c.295C>T (p.Pro99Ser)	VARS2 (P129S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2537483	NM_020442.6(VARS2):c.298C>G (p.Leu100Val)	VARS2 (L100V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272451	NM_020442.6(VARS2):c.304C>T (p.Pro102Ser)	VARS2 (P102S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 511477	NM_020442.6(VARS2):c.315C>T (p.Ser105=)	VARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 3188205	NM_020442.6(VARS2):c.319C>G (p.Arg107Gly)	VARS2 (R107G +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264283	NM_020442.6(VARS2):c.344C>G (p.Pro115Arg)	VARS2 (P115R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1959990	NM_020442.6(VARS2):c.355C>A (p.Arg119=)	VARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2662571	NM_020442.6(VARS2):c.379T>C (p.Tyr127His)	VARS2 (Y127H +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2140117	NM_020442.6(VARS2):c.383A>G (p.Gln128Arg)	VARS2 (Q128R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2180286	NM_020442.6(VARS2):c.388C>T (p.Arg130Trp)	VARS2 (R130W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1912062	NM_020442.6(VARS2):c.389G>A (p.Arg130Gln)	VARS2 (R130Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2906354	NM_020442.6(VARS2):c.408G>A (p.Gly136=)	VARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2603439	NM_020442.6(VARS2):c.413C>A (p.Thr138Asn)	VARS2 (T168N +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	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 425368	NM_020442.6(VARS2):c.423G>A (p.Met141Ile)	VARS2 (M141I +2 more)	Single nucleotide variant (missense variant +1 more)	VARS2-related condition +2 more	GBenign/Likely benign
Select item 1327327	NM_020442.6(VARS2):c.451T>C (p.Ser151Pro)	VARS2 (S11P +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2411765	NM_020442.6(VARS2):c.469G>A (p.Ala157Thr)	VARS2 (A157T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1906497	NM_020442.6(VARS2):c.477G>A (p.Thr159=)	VARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1312947	NM_020442.6(VARS2):c.482C>G (p.Ala161Gly)	VARS2 (A161G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1671024	NM_020442.6(VARS2):c.495C>T (p.Ala165=)	VARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 512101	NM_020442.6(VARS2):c.507-8T>C	VARS2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 809890	NM_020442.6(VARS2):c.513_516dup (p.Arg173fs)	VARS2 (R203fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 488636	NM_020442.6(VARS2):c.511C>T (p.Arg171Trp)	VARS2 (R171W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3188206	NM_020442.6(VARS2):c.533T>C (p.Leu178Pro)	VARS2 (L178P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1581259	NM_020442.6(VARS2):c.570A>G (p.Thr190=)	VARS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2784529	NM_020442.6(VARS2):c.571C>T (p.Gln191Ter)	VARS2 (Q191* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2067268	NM_020442.6(VARS2):c.573+7_573+13dup	VARS2	Duplication (intron variant)	not provided	GLikely benign
Select item 1656169	NM_020442.6(VARS2):c.573+13T>C	VARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676746	NM_020442.6(VARS2):c.574-42_574-35del	VARS2	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 1215596	NM_020442.6(VARS2):c.574-27G>T	VARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 380151	NM_020442.6(VARS2):c.574-9C>T	VARS2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1983845	NM_020442.6(VARS2):c.574-7A>T	VARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1618942	NM_020442.6(VARS2):c.574-7A>C	VARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1940583	NM_020442.6(VARS2):c.582G>A (p.Val194=)	VARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997984	NM_020442.6(VARS2):c.592C>T (p.Leu198=)	VARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2359516	NM_020442.6(VARS2):c.604C>T (p.Arg202Trp)	VARS2 (R202W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1013497	NM_020442.6(VARS2):c.605G>C (p.Arg202Pro)	VARS2 (R202P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 506357	NM_020442.6(VARS2):c.607G>A (p.Gly203Arg)	VARS2 (G203R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2977579	NM_020442.6(VARS2):c.608G>T (p.Gly203Val)	VARS2 (G233V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426234	NM_020442.6(VARS2):c.608_609insCCC (p.Gly203_Val204insPro)	VARS2	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 2076760	NM_020442.6(VARS2):c.614G>A (p.Arg205Lys)	VARS2 (R65K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1397634	NM_020442.6(VARS2):c.614G>C (p.Arg205Thr)	VARS2 (R65T +2 more)	Single nucleotide variant (missense variant)	not provided	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 2070271	NM_020442.6(VARS2):c.636G>A (p.Glu212=)	VARS2	Single nucleotide variant (synonymous variant)	VARS2-related condition +1 more	GLikely benign
Select item 389406	NM_020442.6(VARS2):c.639C>T (p.Ala213=)	VARS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2012533	NM_020442.6(VARS2):c.641T>G (p.Phe214Cys)	VARS2 (F244C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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