"Ambry Genetics"[submitter] AND "YARS1"[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 860911	NM_003680.4(YARS1):c.1574G>A (p.Gly525Glu)	YARS1 (G525E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GUncertain significance
Select item 220175	NM_003680.4(YARS1):c.1571G>C (p.Gly524Ala)	YARS1 (G524A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 643209	NM_003680.4(YARS1):c.1531A>G (p.Met511Val)	YARS1 (M511V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 194050	NM_003680.4(YARS1):c.1464C>T (p.Phe488=)	YARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1681475	NM_003680.4(YARS1):c.1448C>T (p.Pro483Leu)	YARS1 (P483L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 854032	NM_003680.4(YARS1):c.1435G>A (p.Glu479Lys)	YARS1 (E479K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1799763	NM_003680.4(YARS1):c.1421A>G (p.Lys474Arg)	YARS1 (K474R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 843281	NM_003680.4(YARS1):c.1418A>G (p.Glu473Gly)	YARS1 (E473G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 297149	NM_003680.4(YARS1):c.1374G>A (p.Pro458=)	YARS1	Single nucleotide variant (synonymous variant)	YARS1-related condition +3 more	GBenign/Likely benign
Select item 648368	NM_003680.4(YARS1):c.1349G>C (p.Arg450Pro)	YARS1 (R450P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 533464	NM_003680.4(YARS1):c.1348C>T (p.Arg450Cys)	YARS1 (R450C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2256041	NM_003680.4(YARS1):c.1333A>T (p.Ile445Leu)	YARS1 (I445L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1681480	NM_003680.4(YARS1):c.1333A>G (p.Ile445Val)	YARS1 (I445V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1800082	NM_003680.4(YARS1):c.1330_1332del (p.Ser444del)	YARS1 (S444del)	Deletion (inframe_deletion +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1800159	NM_003680.4(YARS1):c.1318C>T (p.Leu440Phe)	YARS1 (L440F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301359	NM_003680.4(YARS1):c.1312G>T (p.Gly438Cys)	YARS1 (G438C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 464873	NM_003680.4(YARS1):c.1291A>T (p.Met431Leu)	YARS1 (M431L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 700421	NM_003680.4(YARS1):c.1246C>A (p.Gln416Lys)	YARS1 (Q416K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GLikely 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 515998	NM_003680.4(YARS1):c.1191T>C (p.Ala397=)	YARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 220895	NM_003680.4(YARS1):c.1179C>T (p.Asp393=)	YARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 392105	NM_003680.4(YARS1):c.1154A>C (p.Asp385Ala)	YARS1 (D385A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2317612	NM_003680.4(YARS1):c.1150G>A (p.Ala384Thr)	YARS1 (A384T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 383817	NM_003680.4(YARS1):c.1128C>T (p.Ile376=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C +3 more	GLikely benign
Select item 1800158	NM_003680.4(YARS1):c.1112G>A (p.Arg371His)	YARS1 (R371H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 642748	NM_003680.4(YARS1):c.1100G>A (p.Arg367Gln)	YARS1 (R367Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 699667	NM_003680.4(YARS1):c.1079C>A (p.Pro360Gln)	YARS1 (P360Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GLikely benign
Select item 1685216	NM_003680.4(YARS1):c.1034C>T (p.Ser345Leu)	YARS1 (S345L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 571694	NM_003680.4(YARS1):c.1012A>G (p.Ser338Gly)	YARS1 (S338G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 391219	NM_003680.4(YARS1):c.1008G>A (p.Leu336=)	YARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1800270	NM_003680.4(YARS1):c.986_988dup (p.Asn329_Thr330insAsn)	YARS1	Duplication (inframe_insertion +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2610043	NM_003680.4(YARS1):c.971T>C (p.Ile324Thr)	YARS1 (I324T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 297154	NM_003680.4(YARS1):c.946G>A (p.Ala316Thr)	YARS1 (A316T)	Single nucleotide variant (missense variant)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 +3 more	GConflicting classifications of pathogenicity
Select item 971339	NM_003680.4(YARS1):c.937G>A (p.Val313Ile)	YARS1 (V313I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GUncertain significance
Select item 1800233	NM_003680.4(YARS1):c.929A>G (p.Lys310Arg)	YARS1 (K310R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1800447	NM_003680.4(YARS1):c.893A>G (p.Asp298Gly)	LOC126805688, YARS1 (D298G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 464881	NM_003680.4(YARS1):c.795G>C (p.Lys265Asn)	LOC126805688, YARS1 (K265N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1799578	NM_003680.4(YARS1):c.778G>C (p.Val260Leu)	LOC126805688, YARS1 (V260L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389445	NM_003680.4(YARS1):c.773A>G (p.Asn258Ser)	LOC126805688, YARS1 (N258S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2469632	NM_003680.4(YARS1):c.767A>G (p.Glu256Gly)	LOC126805688, YARS1 (E256G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469631	NM_003680.4(YARS1):c.766G>A (p.Glu256Lys)	LOC126805688, YARS1 (E256K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1800287	NM_003680.4(YARS1):c.713A>G (p.Lys238Arg)	LOC126805688, YARS1 (K238R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 510054	NM_003680.4(YARS1):c.678A>G (p.Ser226=)	YARS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1681520	NM_003680.4(YARS1):c.620G>A (p.Arg207Gln)	YARS1 (R207Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GConflicting classifications of pathogenicity
Select item 2252220	NM_003680.4(YARS1):c.604C>T (p.Leu202Phe)	YARS1 (L202F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1681523	NM_003680.4(YARS1):c.587A>G (p.Glu196Gly)	YARS1 (E196G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GUncertain significance
Select item 2299521	NM_003680.4(YARS1):c.564G>C (p.Gln188His)	YARS1 (Q188H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 216575	NM_003680.4(YARS1):c.546A>G (p.Gln182=)	YARS1	Single nucleotide variant (synonymous variant)	YARS1-related condition +2 more	GLikely benign
Select item 640220	NM_003680.4(YARS1):c.542C>A (p.Ala181Asp)	YARS1 (A181D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GUncertain significance
Select item 464876	NM_003680.4(YARS1):c.483G>C (p.Leu161=)	YARS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1799780	NM_003680.4(YARS1):c.457G>A (p.Val153Ile)	YARS1 (V153I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2309328	NM_003680.4(YARS1):c.437A>G (p.Lys146Arg)	YARS1 (K146R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 448885	NM_003680.4(YARS1):c.430G>A (p.Asp144Asn)	YARS1 (D144N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 297160	NM_003680.4(YARS1):c.414C>T (p.Ser138=)	YARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 1700369	NM_003680.4(YARS1):c.371A>C (p.Gln124Pro)	YARS1 (Q124P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1800200	NM_003680.4(YARS1):c.278G>A (p.Arg93Gln)	YARS1 (R93Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1799856	NM_003680.4(YARS1):c.256C>T (p.Pro86Ser)	YARS1 (P86S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 464875	NM_003680.4(YARS1):c.211A>G (p.Ile71Val)	YARS1 (I71V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +2 more	GUncertain significance
Select item 2332507	NM_003680.4(YARS1):c.167T>C (p.Met56Thr)	YARS1 (M56T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GUncertain significance
Select item 1800074	NM_003680.4(YARS1):c.125C>T (p.Thr42Met)	YARS1 (T42M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 665512	NM_003680.4(YARS1):c.122G>A (p.Gly41Glu)	YARS1 (G41E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GUncertain significance
Select item 952197	NM_003680.4(YARS1):c.112del (p.Ile38fs)	YARS1 (I38fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 239549	NM_003680.4(YARS1):c.63T>C (p.Val21=)	YARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1799917	NM_003680.4(YARS1):c.58G>C (p.Glu20Gln)	YARS1 (E20Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531933	NM_003680.4(YARS1):c.55C>A (p.Gln19Lys)	S100PBP, YARS1 (Q19K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 863098	NM_003680.4(YARS1):c.40A>T (p.Ile14Phe)	S100PBP, YARS1 (I14F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

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Items: 69