"Ambry Genetics"[submitter] AND "IARS1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 107

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3107821	NM_002161.6(IARS1):c.3775A>G (p.Thr1259Ala)	IARS1 (T1208A +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107820	NM_002161.6(IARS1):c.3707-4C>A	IARS1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3107819	NM_002161.6(IARS1):c.3685C>G (p.Leu1229Val)	IARS1 (L1184V +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3107818	NM_002161.6(IARS1):c.3668G>A (p.Arg1223Lys)	IARS1 (R1175K +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3107817	NM_002161.6(IARS1):c.3662G>A (p.Arg1221Gln)	IARS1 (R1173Q +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2049147	NM_002161.6(IARS1):c.3578C>T (p.Thr1193Ile)	IARS1 (T1145I +10 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1806087	NM_002161.6(IARS1):c.3563T>C (p.Met1188Thr)	IARS1 (M1140T +10 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GUncertain significance
Select item 1030526	NM_002161.6(IARS1):c.3457T>C (p.Cys1153Arg)	IARS1 (C1139R +7 more)	Single nucleotide variant (missense variant +2 more)	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy +2 more	GUncertain significance
Select item 3107815	NM_002161.6(IARS1):c.3424A>C (p.Thr1142Pro)	IARS1 (T1101P +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3107814	NM_002161.6(IARS1):c.3389C>G (p.Ala1130Gly)	IARS1 (A1130G +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3107813	NM_002161.6(IARS1):c.3266C>T (p.Ala1089Val)	IARS1 (A1057V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107812	NM_002161.6(IARS1):c.3265G>T (p.Ala1089Ser)	IARS1 (A1057S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107811	NM_002161.6(IARS1):c.3236C>T (p.Ala1079Val)	IARS1 (A1047V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555590	NM_002161.6(IARS1):c.3190G>A (p.Glu1064Lys)	IARS1 (E1023K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470711	NM_002161.6(IARS1):c.3146C>T (p.Ser1049Leu)	IARS1 (S1008L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 445904	NM_002161.6(IARS1):c.3136G>A (p.Val1046Ile)	IARS1 (V1046I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 3107808	NM_002161.6(IARS1):c.3119C>T (p.Pro1040Leu)	IARS1 (P1015L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107807	NM_002161.6(IARS1):c.3079G>A (p.Glu1027Lys)	IARS1 (E1002K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107806	NM_002161.6(IARS1):c.3073G>A (p.Val1025Ile)	IARS1 (V1032I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285139	NM_002161.6(IARS1):c.3056G>T (p.Gly1019Val)	IARS1 (G978V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544108	NM_002161.6(IARS1):c.2982A>G (p.Ile994Met)	IARS1 (I994M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285142	NM_002161.6(IARS1):c.2905G>C (p.Ala969Pro)	IARS1 (A944P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483855	NM_002161.6(IARS1):c.2896G>T (p.Asp966Tyr)	IARS1 (D941Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107805	NM_002161.6(IARS1):c.2849C>T (p.Thr950Ile)	IARS1 (T909I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2072635	NM_002161.6(IARS1):c.2837G>A (p.Arg946His)	IARS1 (R918H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2081673	NM_002161.6(IARS1):c.2836C>T (p.Arg946Cys)	IARS1 (R918C +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2494391	NM_002161.6(IARS1):c.2822A>G (p.His941Arg)	IARS1 (H900R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107804	NM_002161.6(IARS1):c.2809G>C (p.Gly937Arg)	IARS1 (G896R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1805635	NM_002161.6(IARS1):c.2806G>A (p.Glu936Lys)	IARS1 (E895K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3107803	NM_002161.6(IARS1):c.2746A>T (p.Ile916Phe)	IARS1 (I875F +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285144	NM_002161.6(IARS1):c.2723C>G (p.Ala908Gly)	IARS1 (A867G +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107802	NM_002161.6(IARS1):c.2723C>A (p.Ala908Asp)	IARS1 (A880D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2077527	NM_002161.6(IARS1):c.2719G>A (p.Gly907Arg)	IARS1 (G866R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1982637	NM_002161.6(IARS1):c.2711G>A (p.Arg904His)	IARS1 (R872H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3107801	NM_002161.6(IARS1):c.2672G>A (p.Arg891Gln)	IARS1 (R898Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107800	NM_002161.6(IARS1):c.2606A>T (p.Tyr869Phe)	IARS1 (Y844F +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107799	NM_002161.6(IARS1):c.2591A>G (p.Lys864Arg)	IARS1 (K832R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3107798	NM_002161.6(IARS1):c.2530A>G (p.Lys844Glu)	IARS1 (K803E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2190313	NM_002161.6(IARS1):c.2504T>C (p.Ile835Thr)	IARS1 (I794T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3285141	NM_002161.6(IARS1):c.2477A>G (p.Gln826Arg)	IARS1 (Q785R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107796	NM_002161.6(IARS1):c.2458A>T (p.Ser820Cys)	IARS1 (S795C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1895576	NM_002161.6(IARS1):c.2423G>A (p.Arg808His)	IARS1 (R783H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1915697	NM_002161.6(IARS1):c.2422C>G (p.Arg808Gly)	IARS1 (R780G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 3107795	NM_002161.6(IARS1):c.2415G>C (p.Met805Ile)	IARS1 (M764I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782858	NM_002161.6(IARS1):c.2389G>A (p.Asp797Asn)	IARS1 (D797N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2141789	NM_002161.6(IARS1):c.2306T>C (p.Met769Thr)	IARS1 (M737T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3107794	NM_002161.6(IARS1):c.2285T>C (p.Leu762Pro)	IARS1 (L721P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590875	NM_002161.6(IARS1):c.2231G>A (p.Gly744Asp)	IARS1 (G712D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 985895	NM_002161.6(IARS1):c.2216G>A (p.Arg739His)	IARS1 (R698H +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3107793	NM_002161.6(IARS1):c.2208A>C (p.Arg736Ser)	IARS1 (R757S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3107792	NM_002161.6(IARS1):c.2153C>G (p.Thr718Ser)	IARS1 (T718S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1030523	NM_002161.6(IARS1):c.2081G>A (p.Arg694Gln)	IARS1 (R653Q +4 more)	Single nucleotide variant (missense variant +1 more)	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy +1 more	GUncertain significance
Select item 3107791	NM_002161.6(IARS1):c.2077G>A (p.Asp693Asn)	IARS1 (D665N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2163696	NM_002161.6(IARS1):c.2069A>G (p.Asn690Ser)	IARS1 (N649S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3107790	NM_002161.6(IARS1):c.2048A>G (p.Asn683Ser)	IARS1 (N642S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107788	NM_002161.6(IARS1):c.1985T>G (p.Phe662Cys)	IARS1 (F683C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1983817	NM_002161.6(IARS1):c.1982G>A (p.Arg661His)	IARS1 (R620H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3107787	NM_002161.6(IARS1):c.1963C>T (p.Pro655Ser)	IARS1 (P662S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107786	NM_002161.6(IARS1):c.1936C>T (p.Arg646Trp)	IARS1 (R605W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107785	NM_002161.6(IARS1):c.1912C>T (p.Leu638Phe)	IARS1 (L597F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510169	NM_002161.6(IARS1):c.1892C>T (p.Pro631Leu)	IARS1 (P638L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107783	NM_002161.6(IARS1):c.1853A>T (p.Tyr618Phe)	IARS1 (Y618F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3107782	NM_002161.6(IARS1):c.1840A>G (p.Ile614Val)	IARS1 (I635V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3107781	NM_002161.6(IARS1):c.1825C>A (p.Pro609Thr)	IARS1 (P568T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3107780	NM_002161.6(IARS1):c.1808A>G (p.Lys603Arg)	IARS1 (K603R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2181373	NM_002161.6(IARS1):c.1759G>A (p.Val587Ile)	IARS1 (V594I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3107779	NM_002161.6(IARS1):c.1727C>T (p.Thr576Met)	IARS1 (T535M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285145	NM_002161.6(IARS1):c.1592G>A (p.Gly531Asp)	IARS1 (G490D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1030521	NM_002161.6(IARS1):c.1531C>T (p.Arg511Cys)	IARS1 (R470C +3 more)	Single nucleotide variant (missense variant +1 more)	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy +1 more	GUncertain significance
Select item 3032303	NM_002161.6(IARS1):c.1492C>G (p.Leu498Val)	IARS1 (L457V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1930546	NM_002161.6(IARS1):c.1475G>A (p.Gly492Glu)	IARS1 (G499E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2994497	NM_002161.6(IARS1):c.1432-5G>C	IARS1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1953781	NM_002161.6(IARS1):c.1393A>G (p.Thr465Ala)	IARS1 (T424A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3107778	NM_002161.6(IARS1):c.1341T>G (p.Asn447Lys)	IARS1 (N468K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107777	NM_002161.6(IARS1):c.1301A>G (p.Tyr434Cys)	IARS1 (Y434C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107776	NM_002161.6(IARS1):c.1289A>G (p.Asn430Ser)	IARS1 (N437S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107775	NM_002161.6(IARS1):c.1267G>A (p.Val423Met)	IARS1 (V423M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107774	NM_002161.6(IARS1):c.1087A>G (p.Thr363Ala)	IARS1 (T363A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2054924	NM_002161.6(IARS1):c.1021A>G (p.Ile341Val)	IARS1 (I300V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1945800	NM_002161.6(IARS1):c.973G>A (p.Ala325Thr)	IARS1 (A346T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 713976	NM_002161.6(IARS1):c.904A>T (p.Asn302Tyr)	IARS1 (N302Y)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 3285143	NM_002161.6(IARS1):c.890T>C (p.Leu297Pro)	IARS1 (L297P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1911385	NM_002161.6(IARS1):c.848A>G (p.Tyr283Cys)	IARS1 (Y304C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3107829	NM_002161.6(IARS1):c.839C>T (p.Pro280Leu)	IARS1 (P301L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107828	NM_002161.6(IARS1):c.784A>G (p.Arg262Gly)	IARS1 (R283G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546861	NM_002161.6(IARS1):c.763T>G (p.Leu255Val)	IARS1 (L214V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489132	NM_002161.6(IARS1):c.761G>A (p.Arg254Gln)	IARS1 (R275Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107827	NM_002161.6(IARS1):c.642A>T (p.Glu214Asp)	IARS1 (E214D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107826	NM_002161.6(IARS1):c.611C>A (p.Pro204His)	IARS1 (P204H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107824	NM_002161.6(IARS1):c.577G>A (p.Glu193Lys)	IARS1 (E152K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2082699	NM_002161.6(IARS1):c.526G>A (p.Val176Met)	IARS1 (V176M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3285138	NM_002161.6(IARS1):c.484G>A (p.Val162Ile)	IARS1 (V162I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557254	NM_002161.6(IARS1):c.467T>C (p.Met156Thr)	IARS1 (M115T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107822	NM_002161.6(IARS1):c.457C>G (p.Pro153Ala)	IARS1 (P112A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285140	NM_002161.6(IARS1):c.380A>G (p.Tyr127Cys)	IARS1 (Y86C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2075906	NM_002161.6(IARS1):c.352A>G (p.Asn118Asp)	IARS1 (N118D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3107816	NM_002161.6(IARS1):c.347A>G (p.Tyr116Cys)	IARS1 (Y75C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509632	NM_002161.6(IARS1):c.333G>C (p.Met111Ile)	IARS1 (M132I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529509	NM_002161.6(IARS1):c.263A>G (p.His88Arg)	IARS1 (H88R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543098	NM_002161.6(IARS1):c.247T>A (p.Phe83Ile)	IARS1 (F83I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2