ClinVar for Gene (Select 25973) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3390395	NM_152268.4(PARS2):c.97G>A (p.Ala33Thr)	PARS2 (A33T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3390393	NM_152268.4(PARS2):c.1108T>C (p.Tyr370His)	PARS2 (Y370H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3382531	NM_152268.4(PARS2):c.1308del (p.Gly437fs)	PARS2 (G437fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 75	GUncertain significance
Select item 3342203	NM_152268.4(PARS2):c.1141A>G (p.Ser381Gly)	PARS2 (S381G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342007	NM_152268.4(PARS2):c.902A>G (p.Lys301Arg)	PARS2 (K301R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340626	NM_152268.4(PARS2):c.401G>A (p.Trp134Ter)	PARS2 (W134*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3340199	NM_152268.4(PARS2):c.112C>T (p.Arg38Trp)	PARS2 (R38W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336244	NM_152268.4(PARS2):c.1A>G (p.Met1Val)	PARS2 (M1V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304416	NM_152268.4(PARS2):c.1340T>G (p.Phe447Cys)	PARS2 (F447C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208847	NM_152268.4(PARS2):c.995C>T (p.Pro332Leu)	PARS2 (P332L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208846	NM_152268.4(PARS2):c.154C>T (p.Arg52Trp)	PARS2 (R52W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208845	NM_152268.4(PARS2):c.1364G>A (p.Gly455Asp)	PARS2 (G455D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067934	NM_152268.4(PARS2):c.886C>T (p.Gln296Ter)	PARS2 (Q296*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 75	GLikely pathogenic
Select item 3065467	NM_152268.4(PARS2):c.287G>A (p.Arg96His)	PARS2 (R96H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75 +1 more	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 3008948	NM_152268.4(PARS2):c.1224G>C (p.Val408=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000960	NM_152268.4(PARS2):c.282C>T (p.Thr94=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973106	NM_152268.4(PARS2):c.774G>A (p.Glu258=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917714	NM_152268.4(PARS2):c.887A>G (p.Gln296Arg)	PARS2 (Q296R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2899156	NM_152268.4(PARS2):c.62T>C (p.Leu21Pro)	PARS2 (L21P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875596	NM_152268.4(PARS2):c.153T>G (p.Leu51=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797317	NM_152268.4(PARS2):c.516G>C (p.Leu172=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776270	NM_152268.4(PARS2):c.324G>A (p.Glu108=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2638836	NM_152268.4(PARS2):c.175C>T (p.Leu59=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2582051	NM_152268.4(PARS2):c.1021G>A (p.Gly341Ser)	PARS2 (G341S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2555859	NM_152268.4(PARS2):c.788T>C (p.Val263Ala)	PARS2 (V263A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555174	NM_152268.4(PARS2):c.34C>T (p.Pro12Ser)	PARS2 (P12S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555173	NM_152268.4(PARS2):c.33G>T (p.Leu11Phe)	PARS2 (L11F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547265	NM_152268.4(PARS2):c.115C>T (p.Arg39Cys)	PARS2 (R39C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535354	NM_152268.4(PARS2):c.235C>G (p.Leu79Val)	PARS2 (L79V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519776	NM_152268.4(PARS2):c.973T>G (p.Phe325Val)	PARS2 (F325V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494406	NM_152268.4(PARS2):c.568G>C (p.Asp190His)	PARS2 (D190H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425971	NC_000001.10:g.(?_55223407)_(55352792_?)dup	CIMAP2, DHCR24 +2 more	Duplication	not provided	GUncertain significance
Select item 2422032	NM_152268.4(PARS2):c.371C>T (p.Pro124Leu)	PARS2 (P124L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2418554	NM_152268.4(PARS2):c.276A>G (p.Pro92=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2382448	NM_152268.4(PARS2):c.308G>A (p.Arg103Gln)	PARS2 (R103Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335828	NM_152268.4(PARS2):c.523A>C (p.Lys175Gln)	PARS2 (K175Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330511	NM_152268.4(PARS2):c.60G>C (p.Gln20His)	PARS2 (Q20H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314621	NM_152268.4(PARS2):c.749C>T (p.Thr250Ile)	PARS2 (T250I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273073	NM_152268.4(PARS2):c.598C>T (p.Arg200Cys)	PARS2 (R200C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272109	NM_152268.4(PARS2):c.758G>A (p.Gly253Asp)	PARS2 (G253D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261454	NM_152268.4(PARS2):c.574C>A (p.Pro192Thr)	PARS2 (P192T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232039	NM_152268.4(PARS2):c.602G>A (p.Gly201Asp)	PARS2 (G201D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228634	NM_152268.4(PARS2):c.294G>A (p.Met98Ile)	PARS2 (M98I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2192869	NM_152268.4(PARS2):c.642C>T (p.Ser214=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182117	NM_152268.4(PARS2):c.303C>T (p.Leu101=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175512	NM_152268.4(PARS2):c.46A>G (p.Thr16Ala)	PARS2 (T16A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2161752	NM_152268.4(PARS2):c.1242C>A (p.Thr414=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2150280	NM_152268.4(PARS2):c.1070C>T (p.Thr357Ile)	PARS2 (T357I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2134546	NM_152268.4(PARS2):c.534C>G (p.Pro178=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2127235	NM_152268.4(PARS2):c.852A>G (p.Thr284=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2088394	NM_152268.4(PARS2):c.1056T>C (p.Ile352=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2081149	NM_152268.4(PARS2):c.1402T>C (p.Leu468=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2079193	NM_152268.4(PARS2):c.366C>T (p.Leu122=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071199	NM_152268.4(PARS2):c.255C>T (p.Pro85=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2056873	NM_152268.4(PARS2):c.523A>G (p.Lys175Glu)	PARS2 (K175E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022932	NM_152268.4(PARS2):c.165G>C (p.Arg55=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2019733	NM_152268.4(PARS2):c.427A>T (p.Arg143Ter)	PARS2 (R143*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2016872	NM_152268.4(PARS2):c.141G>T (p.Gln47His)	PARS2 (Q47H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976982	NM_152268.4(PARS2):c.519C>G (p.Ser173=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1964905	NM_152268.4(PARS2):c.739G>T (p.Asp247Tyr)	PARS2 (D247Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941853	NM_152268.4(PARS2):c.1157C>T (p.Ala386Val)	PARS2 (A386V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941681	NM_152268.4(PARS2):c.286C>T (p.Arg96Cys)	PARS2 (R96C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1936161	NM_152268.4(PARS2):c.55C>T (p.Arg19Cys)	PARS2 (R19C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929975	NM_152268.4(PARS2):c.876C>T (p.Cys292=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929974	NM_152268.4(PARS2):c.1370T>C (p.Val457Ala)	PARS2 (V457A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916138	NM_152268.4(PARS2):c.955T>A (p.Ser319Thr)	PARS2 (S319T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910028	NM_152268.4(PARS2):c.339G>C (p.Gly113=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1904156	NM_152268.4(PARS2):c.166G>C (p.Val56Leu)	PARS2 (V56L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900326	NM_152268.4(PARS2):c.599G>A (p.Arg200His)	PARS2 (R200H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900315	NM_152268.4(PARS2):c.557G>A (p.Arg186Lys)	PARS2 (R186K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1898261	NM_152268.4(PARS2):c.397C>T (p.Arg133Trp)	PARS2 (R133W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806505	NM_152268.4(PARS2):c.872A>G (p.Asn291Ser)	PARS2 (N291S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801746	NM_152268.4(PARS2):c.559A>T (p.Lys187Ter)	PARS2 (K187*)	Single nucleotide variant (nonsense)	Myoepithelial tumor	GUncertain significance
Select item 1711920	NM_152268.4(PARS2):c.1162G>A (p.Glu388Lys)	PARS2 (E388K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698984	NM_152268.4(PARS2):c.874T>C (p.Cys292Arg)	PARS2 (C292R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75 +1 more	GUncertain significance
Select item 1694513	NM_152268.4(PARS2):c.201C>T (p.Thr67=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1694512	NM_152268.4(PARS2):c.1036C>T (p.Arg346Trp)	PARS2 (R346W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1649673	NM_152268.4(PARS2):c.474C>T (p.His158=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1648338	NM_152268.4(PARS2):c.1083C>T (p.Val361=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1624624	NM_152268.4(PARS2):c.168G>T (p.Val56=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1616329	NM_152268.4(PARS2):c.477G>A (p.Glu159=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1602040	NM_152268.4(PARS2):c.538C>T (p.Leu180=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1592655	NM_152268.4(PARS2):c.54C>T (p.Ser18=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1586747	NM_152268.4(PARS2):c.753C>T (p.Ile251=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1551564	NM_152268.4(PARS2):c.579G>A (p.Arg193=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1505660	NM_152268.4(PARS2):c.163C>T (p.Arg55Trp)	PARS2 (R55W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1504912	NM_152268.4(PARS2):c.290C>T (p.Ala97Val)	PARS2 (A97V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1501238	NM_152268.4(PARS2):c.150C>A (p.Asn50Lys)	PARS2 (N50K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1500391	NM_152268.4(PARS2):c.1129C>G (p.Pro377Ala)	PARS2 (P377A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484832	NM_152268.4(PARS2):c.1255G>A (p.Gly419Arg)	PARS2 (G419R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1484784	NM_152268.4(PARS2):c.805C>T (p.Arg269Trp)	PARS2 (R269W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466049	NM_152268.4(PARS2):c.260G>A (p.Cys87Tyr)	PARS2 (C87Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446139	NM_152268.4(PARS2):c.368G>T (p.Ser123Ile)	PARS2 (S123I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1442537	NM_152268.4(PARS2):c.304G>A (p.Val102Met)	PARS2 (V102M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1440862	NM_152268.4(PARS2):c.671G>A (p.Ser224Asn)	PARS2 (S224N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1436591	NM_152268.4(PARS2):c.584G>A (p.Arg195His)	PARS2 (R195H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1434548	NC_000001.10:g.(?_55223407)_(55224834_?)dup	PARS2	Duplication	not provided	GUncertain significance
Select item 1421974	NM_152268.4(PARS2):c.214C>T (p.Arg72Trp)	PARS2 (R72W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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