"PreventionGenetics, part of Exact Sciences"[submitter] AND "RARS1"[ge - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1206716	NM_002887.4(RARS1):c.82C>T (p.Arg28Trp)	RARS1 (R28W)	Single nucleotide variant (missense variant)	RARS1-related disorder +1 more	GBenign/Likely benign
Select item 1254187	NM_002887.4(RARS1):c.206C>T (p.Pro69Leu)	RARS1 (P69L)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 9 +3 more	GConflicting classifications of pathogenicity
Select item 419796	NM_002887.4(RARS1):c.823-16AT[7]	RARS1	Microsatellite (intron variant)	RARS1-related disorder +1 more	GBenign/Likely benign
Select item 380574	NM_002887.4(RARS1):c.982G>A (p.Val328Ile)	RARS1 (V328I)	Single nucleotide variant (missense variant)	RARS1-related disorder +2 more	GBenign
Select item 382395	NM_002887.4(RARS1):c.1127T>A (p.Val376Glu)	RARS1 (V376E)	Single nucleotide variant (missense variant)	RARS1-related disorder +3 more	GBenign/Likely benign
Select item 3052595	NM_002887.4(RARS1):c.1221T>C (p.Val407=)	RARS1	Single nucleotide variant (synonymous variant)	RARS1-related disorder	GLikely benign
Select item 387977	NM_002887.4(RARS1):c.1239T>G (p.Ser413=)	RARS1	Single nucleotide variant (synonymous variant)	RARS1-related disorder +2 more	GLikely benign
Select item 1680436	NM_002887.4(RARS1):c.1465G>A (p.Glu489Lys)	RARS1 (E489K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 509552	NM_002887.4(RARS1):c.1696T>C (p.Leu566=)	RARS1	Single nucleotide variant (synonymous variant)	RARS1-related disorder +1 more	GLikely benign
Select item 2632633	NM_002887.4(RARS1):c.1795del (p.Asp599fs)	RARS1 (D599fs)	Deletion (frameshift variant)	RARS1-related disorder	GLikely pathogenic