"Illumina Laboratory Services, Illumina"[submitter] AND "YARS1"[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 297133	NM_003680.4(YARS1):c.*724T>C	YARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 297134	NM_003680.4(YARS1):c.*681T>G	YARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 297135	NM_003680.4(YARS1):c.*680A>G	YARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 297136	NM_003680.4(YARS1):c.*599A>C	YARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 297137	NM_003680.4(YARS1):c.*539A>G	YARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 297138	NM_003680.4(YARS1):c.*442AAAGG[1]	YARS1	Microsatellite (3 prime UTR variant)	Charcot-Marie-Tooth, Intermediate	GLikely benign
Select item 297139	NM_003680.4(YARS1):c.*439T>C	YARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 297140	NM_003680.4(YARS1):c.*399G>A	YARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 297141	NM_003680.4(YARS1):c.*386G>T	YARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 297142	NM_003680.4(YARS1):c.*369G>A	YARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 297143	NM_003680.4(YARS1):c.*305CA[1]	YARS1	Microsatellite (3 prime UTR variant)	Charcot-Marie-Tooth, Intermediate	GLikely benign
Select item 297144	NM_003680.4(YARS1):c.*293A>G	YARS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 297145	NM_003680.4(YARS1):c.*284A>G	YARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GBenign/Likely benign
Select item 297146	NM_003680.4(YARS1):c.*138G>A	YARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 297147	NM_003680.4(YARS1):c.*21C>A	YARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 573519	NM_003680.4(YARS1):c.1507G>T (p.Ala503Ser)	YARS1 (A503S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 297148	NM_003680.4(YARS1):c.1507G>A (p.Ala503Thr)	YARS1 (A503T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 297149	NM_003680.4(YARS1):c.1374G>A (p.Pro458=)	YARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 464873	NM_003680.4(YARS1):c.1291A>T (p.Met431Leu)	YARS1 (M431L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +3 more	GConflicting classifications of pathogenicity
Select item 297150	NM_003680.4(YARS1):c.1275C>T (p.Asn425=)	YARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 415914	NM_003680.4(YARS1):c.1228G>A (p.Val410Met)	YARS1 (V410M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 297151	NM_003680.4(YARS1):c.1218G>C (p.Leu406=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GBenign
Select item 297152	NM_003680.4(YARS1):c.1141-9C>G	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign/Likely benign
Select item 697544	NM_003680.4(YARS1):c.1080A>G (p.Pro360=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign/Likely benign
Select item 215506	NM_003680.4(YARS1):c.1015G>A (p.Ala339Thr)	YARS1 (A339T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 297153	NM_003680.4(YARS1):c.982T>C (p.Phe328Leu)	YARS1 (F328L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth, Intermediate	GUncertain significance
Select item 297154	NM_003680.4(YARS1):c.946G>A (p.Ala316Thr)	YARS1 (A316T)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 297155	NM_003680.4(YARS1):c.874T>G (p.Tyr292Asp)	LOC126805688, YARS1 (Y292D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 297156	NM_003680.4(YARS1):c.685-11A>G	LOC126805688, YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GConflicting classifications of pathogenicity
Select item 297157	NM_003680.4(YARS1):c.684+3A>G	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GConflicting classifications of pathogenicity
Select item 873838	NM_003680.4(YARS1):c.579C>T (p.Thr193=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 297158	NM_003680.4(YARS1):c.511-14G>A	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 284760	NM_003680.4(YARS1):c.510+10G>C	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth, Intermediate +3 more	GConflicting classifications of pathogenicity
Select item 873839	NM_003680.4(YARS1):c.466G>T (p.Val156Leu)	YARS1 (V156L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 297159	NM_003680.4(YARS1):c.415G>A (p.Val139Met)	YARS1 (V139M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 297160	NM_003680.4(YARS1):c.414C>T (p.Ser138=)	YARS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 450882	NM_003680.4(YARS1):c.410C>G (p.Ser137Cys)	YARS1 (S137C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2429401	NM_003680.4(YARS1):c.405A>T (p.Arg135Ser)	YARS1 (R135S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 297161	NM_003680.4(YARS1):c.391C>T (p.Leu131=)	YARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 873840	NM_003680.4(YARS1):c.135G>A (p.Thr45=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 297162	NM_003680.4(YARS1):c.60G>A (p.Glu20=)	YARS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 297163	NM_003680.4(YARS1):c.57+14G>T	S100PBP, YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GBenign
Select item 289456	NM_003680.4(YARS1):c.52C>T (p.Leu18=)	S100PBP, YARS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 297164	NM_003680.4(YARS1):c.-110G>A	S100PBP, YARS1	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 874791	NM_003680.3(YARS1):c.-129C>A	S100PBP, YARS1	Single nucleotide variant (genic upstream transcript variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 874792	NM_003680.3(YARS1):c.-157G>A	S100PBP, YARS1	Single nucleotide variant (genic upstream transcript variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 297165	NM_003680.3(YARS1):c.-167T>A	S100PBP, YARS1	Single nucleotide variant (genic upstream transcript variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 874793	NM_003680.3(YARS1):c.-188G>T	S100PBP, YARS1	Single nucleotide variant (genic upstream transcript variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 875721	NM_003680.3(YARS1):c.-245T>C	S100PBP, YARS1	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 875722	NM_003680.3(YARS1):c.-260G>A	S100PBP, YARS1	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 297166	NM_003680.3(YARS1):c.-269C>T	YARS1, S100PBP	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 297167	NM_003680.3(YARS1):c.-283G>A	S100PBP, YARS1	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 297168	NM_003680.3(YARS1):c.-333C>T	YARS1, S100PBP	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 875723	NM_022753.4(S100PBP):c.-150G>A	S100PBP, YARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 297169	NM_022753.4(S100PBP):c.-128C>T	S100PBP, YARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 875724	NM_022753.4(S100PBP):c.-124C>G	S100PBP, YARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 297170	NM_022753.4(S100PBP):c.-123G>A	S100PBP, YARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 297171	NM_022753.4(S100PBP):c.-120+19G>A	S100PBP, YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 297172	NM_022753.4(S100PBP):c.-120+94C>A	S100PBP, YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 297173	NM_022753.4(S100PBP):c.-120+175T>G	S100PBP, YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 876718	NM_022753.4(S100PBP):c.-120+178C>T	S100PBP, YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GBenign/Likely benign
Select item 297174	NM_022753.4(S100PBP):c.-120+217C>T	LOC132088696, S100PBP +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 297175	NM_022753.4(S100PBP):c.-120+238G>A	LOC132088696, S100PBP +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 297176	NM_022753.4(S100PBP):c.-120+293G>C	LOC132088696, S100PBP +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GBenign
Select item 297177	NM_022753.4(S100PBP):c.-120+296G>A	LOC132088696, S100PBP +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 873889	NM_022753.4(S100PBP):c.-120+337C>T	YARS1, LOC132088696 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance

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Items: 66