ClinVar for Gene (Select 23438) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3368039	NM_012208.4(HARS2):c.515T>G (p.Phe172Cys)	HARS2 (F102C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367889	NM_012208.4(HARS2):c.1147C>T (p.Leu383Phe)	HARS2 (L239F +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364905	NM_012208.4(HARS2):c.193G>A (p.Asp65Asn)	HARS2 (D40N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361452	NM_012208.4(HARS2):c.73G>C (p.Ala25Pro)	HARS2, LOC119407423 (A25P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3361449	NM_012208.4(HARS2):c.706T>C (p.Cys236Arg)	HARS2 (C166R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3283487	NM_012208.4(HARS2):c.1414C>G (p.Leu472Val)	HARS2 (L402V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283486	NM_012208.4(HARS2):c.19C>T (p.Leu7Phe)	HARS2, LOC119407423 (L7F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3237486	NM_012208.4(HARS2):c.1039C>G (p.Gln347Glu)	HARS2 (Q203E +4 more)	Single nucleotide variant (missense variant)	Perrault syndrome 2 +1 more	GUncertain significance
Select item 3104247	NM_012208.4(HARS2):c.704T>G (p.Ile235Ser)	HARS2 (I165S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104246	NM_012208.4(HARS2):c.425T>C (p.Met142Thr)	HARS2 (M117T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3104244	NM_012208.4(HARS2):c.345G>A (p.Met115Ile)	HARS2 (M115I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3104243	NM_012208.4(HARS2):c.338G>A (p.Gly113Glu)	HARS2 (G119E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3053102	NM_012208.4(HARS2):c.109-92G>A	HARS2	Single nucleotide variant (5 prime UTR variant +2 more)	HARS2-related disorder	GLikely benign
Select item 3048804	NM_012208.4(HARS2):c.109-111del	HARS2	Deletion (intron variant)	HARS2-related disorder	GLikely benign
Select item 3031260	NM_012208.4(HARS2):c.114A>G (p.Ala38=)	HARS2	Single nucleotide variant (5 prime UTR variant +2 more)	HARS2-related disorder	GLikely benign
Select item 3026808	NM_012208.4(HARS2):c.360T>A (p.Asp120Glu)	HARS2 (D120E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3012422	NM_012208.4(HARS2):c.837C>T (p.Ser279=)	HARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998228	NM_012208.4(HARS2):c.1347A>G (p.Leu449=)	HARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992107	NM_012208.4(HARS2):c.526-16T>C	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991705	NM_012208.4(HARS2):c.272A>G (p.Lys91Arg)	HARS2 (K66R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987985	NM_012208.4(HARS2):c.304-17C>T	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981271	NM_012208.4(HARS2):c.525+19G>A	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979331	NM_012208.4(HARS2):c.1461+9C>T	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978085	NM_012208.4(HARS2):c.1452C>T (p.Ser484=)	HARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967216	NM_012208.4(HARS2):c.352C>T (p.Leu118=)	HARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2964113	NM_012208.4(HARS2):c.243_244insCTTT (p.Ile82fs)	HARS2 (I12fs +3 more)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2917271	NM_012208.4(HARS2):c.1091A>G (p.Tyr364Cys)	HARS2 (Y294C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909412	NM_012208.4(HARS2):c.525+9C>A	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2891181	NM_012208.4(HARS2):c.465G>A (p.Lys155=)	HARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2878126	NM_012208.4(HARS2):c.1197+13T>C	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825438	NM_012208.4(HARS2):c.381C>T (p.Ser127=)	HARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2808961	NM_012208.4(HARS2):c.769A>G (p.Lys257Glu)	HARS2 (K257E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795419	NM_012208.4(HARS2):c.303+20T>G	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793214	NM_012208.4(HARS2):c.124T>C (p.Leu42=)	HARS2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2782844	NM_012208.4(HARS2):c.95G>T (p.Arg32Leu)	HARS2, LOC119407423 (R32L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2726938	NM_012208.4(HARS2):c.1315-10T>A	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2714458	NM_012208.4(HARS2):c.1176C>T (p.Tyr392=)	HARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712236	NM_012208.4(HARS2):c.849A>G (p.Gln283=)	HARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2662637	NM_012208.4(HARS2):c.472C>T (p.Arg158Trp)	HARS2 (R133W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2581799	NM_012208.4(HARS2):c.1432A>G (p.Lys478Glu)	HARS2 (K334E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2544290	NM_012208.4(HARS2):c.100C>A (p.Gln34Lys)	HARS2, LOC119407423 (Q34K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2539045	NM_012208.4(HARS2):c.241G>T (p.Val81Phe)	HARS2 (V11F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535116	NM_012208.4(HARS2):c.995A>T (p.Tyr332Phe)	HARS2 (Y307F +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520251	NM_012208.4(HARS2):c.1362C>G (p.His454Gln)	HARS2 (H384Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505878	NM_012208.4(HARS2):c.1340C>T (p.Pro447Leu)	HARS2 (P303L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2486605	NM_012208.4(HARS2):c.308C>A (p.Thr103Asn)	HARS2 (T109N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482506	NM_012208.4(HARS2):c.282C>A (p.Asp94Glu)	HARS2 (D24E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446360	NM_012208.4(HARS2):c.1273C>T (p.Arg425Trp)	HARS2 (R281W +4 more)	Single nucleotide variant (missense variant)	Perrault syndrome 2	GLikely pathogenic
Select item 2444638	NM_012208.4(HARS2):c.1120A>G (p.Lys374Glu)	HARS2 (K230E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441989	NM_012208.4(HARS2):c.1462-3C>T	HARS2	Single nucleotide variant (intron variant)	Perrault syndrome 2	GUncertain significance
Select item 2425421	NC_000005.9:g.(?_136957787)_(140078137_?)dup	ANKHD1, ANKHD1-EIF4EBP3 +53 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2424471	NC_000005.9:g.(?_139930285)_(140078137_?)del	APBB3, CD14 +9 more	Deletion	not provided	GUncertain significance
Select item 2417533	NM_012208.4(HARS2):c.1407G>A (p.Glu469=)	HARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2413088	NM_012208.4(HARS2):c.1354C>T (p.Gln452Ter)	HARS2 (Q308* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2397979	NM_012208.4(HARS2):c.1451G>C (p.Ser484Thr)	HARS2 (S414T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338735	NM_012208.4(HARS2):c.824A>C (p.His275Pro)	HARS2 (H250P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329729	NM_012208.4(HARS2):c.412C>T (p.Arg138Cys)	HARS2 (R144C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327975	NM_012208.4(HARS2):c.323A>G (p.Tyr108Cys)	HARS2 (Y108C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313492	NM_012208.4(HARS2):c.76T>G (p.Ser26Ala)	HARS2, LOC119407423 (S26A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2311399	NM_012208.4(HARS2):c.644G>A (p.Arg215Gln)	HARS2 (R71Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279037	NM_012208.4(HARS2):c.1179T>G (p.Ile393Met)	HARS2 (I323M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258915	NM_012208.4(HARS2):c.535A>G (p.Ile179Val)	HARS2 (I109V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248153	NM_012208.4(HARS2):c.1139G>A (p.Cys380Tyr)	HARS2 (C236Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237046	NM_012208.4(HARS2):c.776G>T (p.Gly259Val)	HARS2 (G234V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208535	NM_012208.4(HARS2):c.245T>G (p.Ile82Ser)	HARS2 (I57S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203771	NM_012208.4(HARS2):c.1010A>G (p.Tyr337Cys)	HARS2 (Y343C +4 more)	Single nucleotide variant (missense variant)	Perrault syndrome	Gnot provided
Select item 2168774	NM_012208.4(HARS2):c.324T>G (p.Tyr108Ter)	HARS2 (Y38* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 2161412	NM_012208.4(HARS2):c.453T>C (p.Tyr151=)	HARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2153560	NM_012208.4(HARS2):c.74_100del (p.Ala25_Gln34delinsGlu)	HARS2, LOC119407423	Deletion (inframe_indel +2 more)	not provided	GUncertain significance
Select item 2136282	NM_012208.4(HARS2):c.94C>G (p.Arg32Gly)	LOC119407423, HARS2 (R32G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2093623	NM_012208.4(HARS2):c.78G>A (p.Ser26=)	LOC119407423, HARS2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2085053	NM_012208.4(HARS2):c.229del (p.Ile77fs)	HARS2 (I83fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2084491	NM_012208.4(HARS2):c.954+6C>A	HARS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2067878	NM_012208.4(HARS2):c.69del (p.Cys24fs)	HARS2, LOC119407423 (C24fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2056090	NM_012208.4(HARS2):c.1392G>C (p.Val464=)	HARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2054530	NM_012208.4(HARS2):c.1468A>G (p.Ile490Val)	HARS2 (I420V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2034963	NM_012208.4(HARS2):c.525+7G>T	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2022562	NM_012208.4(HARS2):c.1285A>T (p.Ile429Phe)	HARS2 (I359F +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2018509	NM_012208.4(HARS2):c.525+5G>A	HARS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2011777	NM_012208.4(HARS2):c.607T>A (p.Leu203Met)	HARS2 (L209M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1998983	NM_012208.4(HARS2):c.788A>C (p.Glu263Ala)	HARS2 (E193A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1994893	NM_012208.4(HARS2):c.955-3C>A	HARS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1991294	NM_012208.4(HARS2):c.1227G>A (p.Glu409=)	HARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1964960	NM_012208.4(HARS2):c.728A>C (p.Asp243Ala)	HARS2 (D243A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1954883	NM_012208.4(HARS2):c.733-7T>C	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1950472	NM_012208.4(HARS2):c.676G>C (p.Gly226Arg)	HARS2 (G226R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948442	NM_012208.4(HARS2):c.906C>T (p.Asp302=)	HARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1932770	NM_012208.4(HARS2):c.525+9C>T	HARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1931186	NM_012208.4(HARS2):c.475C>T (p.Arg159Ter)	HARS2 (R134* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1930591	NM_012208.4(HARS2):c.1276T>C (p.Leu426=)	HARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929330	NM_012208.4(HARS2):c.1387C>G (p.Leu463Val)	HARS2 (L319V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1913132	NM_012208.4(HARS2):c.627C>G (p.Leu209=)	HARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1912957	NM_012208.4(HARS2):c.1433A>G (p.Lys478Arg)	HARS2 (K453R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911827	NM_012208.4(HARS2):c.1187A>G (p.Gln396Arg)	HARS2 (Q326R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1898079	NM_012208.4(HARS2):c.1055C>T (p.Pro352Leu)	HARS2 (P282L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1805167	NM_012208.4(HARS2):c.1450_1451delinsC (p.Ser484fs)	HARS2 (S340fs +4 more)	Indel (frameshift variant)	Perrault syndrome 2	GUncertain significance
Select item 1801003	NM_012208.4(HARS2):c.1343A>G (p.Lys448Arg)	HARS2 (K304R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712610	NM_012208.4(HARS2):c.1403G>T (p.Gly468Val)	HARS2 (G324V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707990	NM_012208.4(HARS2):c.1316C>G (p.Ala439Gly)	HARS2 (A295G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707373	NM_012208.4(HARS2):c.1033C>T (p.Pro345Ser)	HARS2 (P201S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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