9870[HGNC] - 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 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 148094	GRCh38/hg38 5q34-35.1(chr5:168234662-169027391)x3	FBLL1, LOC123575611 +30 more	Copy number gain	See cases	GUncertain significance
Select item 152349	GRCh38/hg38 5q34-35.1(chr5:168433412-171417179)x1	C5orf58, DOCK2 +84 more	Copy number loss	See cases	GUncertain significance
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 162080	NM_002887.4(RARS1):c.5A>G (p.Asp2Gly)	RARS1 (D2G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1680399	NM_002887.4(RARS1):c.6C>T (p.Asp2=)	RARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2185195	NM_002887.4(RARS1):c.7G>C (p.Val3Leu)	RARS1 (V3L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1680400	NM_002887.4(RARS1):c.9A>C (p.Val3=)	RARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 386712	NM_002887.4(RARS1):c.9A>G (p.Val3=)	RARS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1680401	NM_002887.4(RARS1):c.10C>T (p.Leu4=)	RARS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1029653	NM_002887.4(RARS1):c.11T>A (p.Leu4Gln)	RARS1 (L4Q)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 9	GUncertain significance
Select item 2873839	NM_002887.4(RARS1):c.12G>C (p.Leu4=)	RARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1680402	NM_002887.4(RARS1):c.15G>T (p.Val5=)	RARS1	Single nucleotide variant (synonymous variant)	not provided	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 1930235	NM_002887.4(RARS1):c.20A>T (p.Glu7Val)	RARS1 (E7V)	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 1680404	NM_002887.4(RARS1):c.24C>T (p.Cys8=)	RARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2730168	NM_002887.4(RARS1):c.29C>T (p.Ala10Val)	RARS1 (A10V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1033549	NM_002887.4(RARS1):c.36G>C (p.Leu12=)	RARS1	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 9 +1 more	GConflicting classifications of pathogenicity
Select item 2480827	NM_002887.4(RARS1):c.41A>G (p.Gln14Arg)	RARS1 (Q14R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3151674	NM_002887.4(RARS1):c.43C>G (p.Gln15Glu)	RARS1 (Q15E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 945034	NM_002887.4(RARS1):c.44A>G (p.Gln15Arg)	RARS1 (Q15R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 162081	NM_002887.4(RARS1):c.45+1G>T	RARS1	Single nucleotide variant (splice donor variant)	Hypomyelinating leukodystrophy 9	GPathogenic
Select item 3151675	NM_002887.4(RARS1):c.45+6G>A	RARS1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1680405	NM_002887.4(RARS1):c.45+19G>A	RARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1680406	NM_002887.4(RARS1):c.46-8T>C	RARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3151676	NM_002887.4(RARS1):c.46-4A>G	RARS1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1919583	NM_002887.4(RARS1):c.55A>G (p.Ile19Val)	RARS1 (I19V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1026616	NM_002887.4(RARS1):c.76A>T (p.Ile26Phe)	RARS1 (I26F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1899222	NM_002887.4(RARS1):c.83G>A (p.Arg28Gln)	RARS1 (R28Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935571	NM_002887.4(RARS1):c.85T>C (p.Leu29=)	RARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 162082	NM_002887.4(RARS1):c.96_97del (p.Cys32fs)	RARS1 (C32fs)	Microsatellite (frameshift variant)	Hypomyelinating leukodystrophy 9	GPathogenic
Select item 3151665	NM_002887.4(RARS1):c.101G>T (p.Cys34Phe)	RARS1 (C34F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1029654	NM_002887.4(RARS1):c.161G>A (p.Arg54Gln)	RARS1 (R54Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1331606	NM_002887.4(RARS1):c.175C>T (p.Arg59Ter)	RARS1 (R59*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1991882	NM_002887.4(RARS1):c.180+2T>C	RARS1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2441849	NM_002887.4(RARS1):c.180+5G>A	RARS1	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 9	GUncertain significance
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 731095	NM_002887.4(RARS1):c.181-10T>A	RARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788736	NM_002887.4(RARS1):c.181-8T>A	RARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 514210	NM_002887.4(RARS1):c.198G>A (p.Arg66=)	RARS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 747354	NM_002887.4(RARS1):c.204A>G (p.Lys68=)	RARS1	Single nucleotide variant (synonymous variant)	not provided	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 2044235	NM_002887.4(RARS1):c.231T>C (p.Ile77=)	RARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3151672	NM_002887.4(RARS1):c.233GCC[1] (p.Arg79del)	RARS1 (R79del)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 3151671	NM_002887.4(RARS1):c.235C>T (p.Arg79Cys)	RARS1 (R79C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2129418	NM_002887.4(RARS1):c.257A>G (p.His86Arg)	RARS1 (H86R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1680407	NM_002887.4(RARS1):c.272C>T (p.Ala91Val)	RARS1 (A91V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1928905	NM_002887.4(RARS1):c.311C>T (p.Pro104Leu)	RARS1 (P104L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 3151673	NM_002887.4(RARS1):c.369+3G>A	RARS1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1680408	NM_002887.4(RARS1):c.369+10T>A	RARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1680409	NM_002887.4(RARS1):c.369+14A>G	RARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1701492	NM_002887.4(RARS1):c.370-26A>G	RARS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1680410	NM_002887.4(RARS1):c.370-12A>G	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)	not provided +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 1299011	NM_002887.4(RARS1):c.445G>T (p.Glu149Ter)	RARS1 (E149*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1680411	NM_002887.4(RARS1):c.449G>A (p.Cys150Tyr)	RARS1 (C150Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091888	NM_002887.4(RARS1):c.467T>A (p.Ile156Asn)	RARS1 (I156N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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