"GeneDx"[submitter] AND "RARS1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 422042	NM_002887.3(RARS1):c.-57_-32del26	RARS1	Deletion	not specified	GLikely benign
Select item 388266	NM_002887.3(RARS1):c.-45C>T	RARS1	Single nucleotide variant	not specified	GLikely benign
Select item 380049	NM_002887.3(RARS1):c.-45C>A	RARS1	Single nucleotide variant	not specified	GBenign
Select item 2500452	NM_002887.4(RARS1):c.-5G>A	RARS1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 162083	NM_002887.4(RARS1):c.1A>G (p.Met1Val)	RARS1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 488942	NM_002887.4(RARS1):c.2T>A (p.Met1Lys)	RARS1 (M1K)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 391980	NM_002887.4(RARS1):c.2T>C (p.Met1Thr)	RARS1 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1218728	NM_002887.4(RARS1):c.3G>T (p.Met1Ile)	RARS1 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 380030	NM_002887.4(RARS1):c.7G>A (p.Val3Ile)	RARS1 (V3I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 386712	NM_002887.4(RARS1):c.9A>G (p.Val3=)	RARS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1710603	NM_002887.4(RARS1):c.17C>T (p.Ser6Phe)	RARS1 (S6F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704747	NM_002887.4(RARS1):c.19G>C (p.Glu7Gln)	RARS1 (E7Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1680403	NM_002887.4(RARS1):c.23G>T (p.Cys8Phe)	RARS1 (C8F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1243311	NM_002887.4(RARS1):c.45+55C>T	RARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298038	NM_002887.4(RARS1):c.45+116_45+117del	RARS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1227495	NM_002887.4(RARS1):c.45+252C>T	RARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197927	NM_002887.4(RARS1):c.45+276G>A	RARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674146	NM_002887.4(RARS1):c.46-251C>T	RARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 506932	NM_002887.4(RARS1):c.46-16G>T	RARS1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1206716	NM_002887.4(RARS1):c.82C>T (p.Arg28Trp)	RARS1 (R28W)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1201607	NM_002887.4(RARS1):c.180+61C>G	RARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203202	NM_002887.4(RARS1):c.180+175G>A	RARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215448	NM_002887.4(RARS1):c.181-193C>A	RARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209559	NM_002887.4(RARS1):c.181-136G>A	RARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292161	NM_002887.4(RARS1):c.181-116G>A	RARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234982	NM_002887.4(RARS1):c.181-41T>A	RARS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 514210	NM_002887.4(RARS1):c.198G>A (p.Arg66=)	RARS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1254187	NM_002887.4(RARS1):c.206C>T (p.Pro69Leu)	RARS1 (P69L)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 9 +2 more	GConflicting classifications of pathogenicity
Select item 1327156	NM_002887.4(RARS1):c.208A>G (p.Thr70Ala)	RARS1 (T70A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1218441	NM_002887.4(RARS1):c.220A>G (p.Ile74Val)	RARS1 (I74V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2576788	NM_002887.4(RARS1):c.227TTA[1] (p.Ile77del)	RARS1 (I77del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 3372365	NM_002887.4(RARS1):c.242A>G (p.Gln81Arg)	RARS1 (Q81R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380050	NM_002887.4(RARS1):c.243A>G (p.Gln81=)	RARS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1708845	NM_002887.4(RARS1):c.305T>A (p.Val102Glu)	RARS1 (V102E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380051	NM_002887.4(RARS1):c.342G>A (p.Gln114=)	RARS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2582205	NM_002887.4(RARS1):c.361A>G (p.Ile121Val)	RARS1 (I121V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186269	NM_002887.4(RARS1):c.365C>T (p.Ser122Phe)	RARS1 (S122F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1239234	NM_002887.4(RARS1):c.369+170del	RARS1	Deletion (intron variant)	not provided	GBenign
Select item 672642	NM_002887.4(RARS1):c.369+217A>G	RARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669544	NM_002887.4(RARS1):c.370-302C>G	RARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243682	NM_002887.4(RARS1):c.370-273G>A	RARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262628	NM_002887.4(RARS1):c.370-240dup	RARS1	Duplication (intron variant)	not provided	GBenign
Select item 1261143	NM_002887.4(RARS1):c.370-241_370-240dup	RARS1	Duplication (intron variant)	not provided	GBenign
Select item 1227227	NM_002887.4(RARS1):c.370-243_370-240dup	RARS1	Duplication (intron variant)	not provided	GBenign
Select item 1202739	NM_002887.4(RARS1):c.370-244_370-240dup	RARS1	Duplication (intron variant)	not provided	GLikely benign
Select item 669545	NM_002887.4(RARS1):c.370-174G>T	RARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186705	NM_002887.4(RARS1):c.370-120T>A	RARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2081830	NM_002887.4(RARS1):c.400C>T (p.Pro134Ser)	RARS1 (P134S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 422330	NM_002887.4(RARS1):c.448_456del (p.Cys150_Glu152del)	RARS1	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 1244618	NM_002887.4(RARS1):c.478+40C>G	RARS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 674147	NM_002887.4(RARS1):c.479-201G>A	RARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683648	NM_002887.4(RARS1):c.479-166A>G	RARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 385001	NM_002887.4(RARS1):c.479-5A>G	RARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235387	NM_002887.4(RARS1):c.579+146G>A	RARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288546	NM_002887.4(RARS1):c.580-299dup	RARS1	Duplication (intron variant)	not provided	GBenign
Select item 1232210	NM_002887.4(RARS1):c.580-299del	RARS1	Deletion (intron variant)	not provided	GBenign
Select item 1211112	NM_002887.4(RARS1):c.580-247T>C	RARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669547	NM_002887.4(RARS1):c.580-225A>G	RARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216262	NM_002887.4(RARS1):c.580-43T>C	RARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2500454	NM_002887.4(RARS1):c.653G>C (p.Gly218Ala)	RARS1 (G218A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 423665	NM_002887.4(RARS1):c.668G>A (p.Arg223His)	RARS1 (R223H)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 9 +1 more	GUncertain significance
Select item 3373058	NM_002887.4(RARS1):c.675T>G (p.Phe225Leu)	RARS1 (F225L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363562	NM_002887.4(RARS1):c.694G>A (p.Val232Met)	RARS1 (V232M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 383043	NM_002887.4(RARS1):c.701+20G>A	RARS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1292237	NM_002887.4(RARS1):c.701+22A>G	RARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292162	NM_002887.4(RARS1):c.701+137C>T	RARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275103	NM_002887.4(RARS1):c.701+192T>G	RARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292163	NM_002887.4(RARS1):c.702-110T>C	RARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236981	NM_002887.4(RARS1):c.702-59T>G	RARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380052	NM_002887.4(RARS1):c.729C>A (p.Thr243=)	RARS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1800893	NM_002887.4(RARS1):c.741G>A (p.Met247Ile)	RARS1 (M247I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2545617	NM_002887.4(RARS1):c.748G>A (p.Ala250Thr)	RARS1 (A250T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 516737	NM_002887.4(RARS1):c.822+15C>T	RARS1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1201067	NM_002887.4(RARS1):c.822+139C>T	RARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291910	NM_002887.4(RARS1):c.822+184del	RARS1	Deletion (intron variant)	not provided	GBenign
Select item 1237860	NM_002887.4(RARS1):c.823-55A>T	RARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 383063	NM_002887.4(RARS1):c.823-20T>A	RARS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 419796	NM_002887.4(RARS1):c.823-16AT[7]	RARS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 681593	NM_002887.4(RARS1):c.823-12A>G	RARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1680417	NM_002887.4(RARS1):c.825dup (p.Ser276fs)	RARS1 (S276fs)	Duplication (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 1194787	NM_002887.4(RARS1):c.952+218A>T	RARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673398	NM_002887.4(RARS1):c.953-272_953-271insTAT	RARS1	Insertion (intron variant)	not provided	GBenign
Select item 669549	NM_002887.4(RARS1):c.953-260G>A	RARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380574	NM_002887.4(RARS1):c.982G>A (p.Val328Ile)	RARS1 (V328I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1217829	NM_002887.4(RARS1):c.1057+195A>G	RARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672644	NM_002887.4(RARS1):c.1057+235C>G	RARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208948	NM_002887.4(RARS1):c.1057+257AT[13]	RARS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1241790	NM_002887.4(RARS1):c.1057+276_1057+277insTT	RARS1	Insertion (intron variant)	not provided	GBenign
Select item 1230739	NM_002887.4(RARS1):c.1057+276_1057+277insTTT	RARS1	Insertion (intron variant)	not provided	GBenign
Select item 1229487	NM_002887.4(RARS1):c.1057+276dup	RARS1	Duplication (intron variant)	not provided	GBenign
Select item 1250360	NM_002887.4(RARS1):c.1057+278_1057+279insTTT	RARS1	Insertion (intron variant)	not provided	GBenign
Select item 1240452	NM_002887.4(RARS1):c.1057+277A>T	RARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221494	NM_002887.4(RARS1):c.1057+278dup	RARS1	Duplication (intron variant)	not provided	GBenign
Select item 1216518	NM_002887.4(RARS1):c.1057+277del	RARS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1193148	NM_002887.4(RARS1):c.1057+278_1057+279insTT	RARS1	Insertion (intron variant)	not provided	GLikely benign
Select item 1199908	NM_002887.4(RARS1):c.1057+279del	RARS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1247465	NM_002887.4(RARS1):c.1057+280_1057+281insA	RARS1	Insertion (intron variant)	not provided	GBenign
Select item 1249503	NM_002887.4(RARS1):c.1057+281T>A	RARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273036	NM_002887.4(RARS1):c.1057+292A>T	RARS1	Single nucleotide variant (intron variant)	not provided	GBenign

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