ClinVar for Gene (Select 3376) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363137	NM_002161.6(IARS1):c.590A>G (p.Asn197Ser)	IARS1 (N156S +2 more)	Single nucleotide variant (missense variant +1 more)	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	GUncertain significance
Select item 3361440	NM_002161.6(IARS1):c.3394T>C (p.Phe1132Leu)	IARS1 (F1091L +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3354938	NM_002161.6(IARS1):c.1305G>C (p.Trp435Cys)	IARS1 (W394C +3 more)	Single nucleotide variant (missense variant +1 more)	IARS1-related disorder	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 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 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 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 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 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 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 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 3234592	NM_002161.6(IARS1):c.1156C>T (p.Arg386Ter)	IARS1 (R345* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 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 3107825	NM_002161.6(IARS1):c.59A>G (p.Glu20Gly)	IARS1 (E20G)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3107789	NM_002161.6(IARS1):c.200T>C (p.Ile67Thr)	IARS1 (I67T)	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 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 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 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 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 3063081	GRCh37/hg19 9q22.31(chr9:94666957-95345707)x3	ASPN, CENPP +8 more	Copy number gain	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3058235	NM_002161.6(IARS1):c.1572T>C (p.Phe524=)	IARS1	Single nucleotide variant (synonymous variant +1 more)	IARS1-related disorder	GLikely benign
Select item 3044753	NM_002161.6(IARS1):c.3410-3T>C	IARS1 (L1143S)	Single nucleotide variant (missense variant +1 more)	IARS1-related disorder	GLikely benign
Select item 3041946	NM_002161.6(IARS1):c.3554-9C>G	IARS1	Single nucleotide variant (intron variant)	IARS1-related disorder	GLikely benign
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 3026478	NM_002161.6(IARS1):c.1745C>T (p.Pro582Leu)	IARS1 (P541L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3023423	NM_002161.6(IARS1):c.1305-19T>C	IARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021150	NM_002161.6(IARS1):c.1644T>C (p.Phe548=)	IARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3013812	NM_002161.6(IARS1):c.984C>T (p.Phe328=)	IARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3006686	NM_002161.6(IARS1):c.397-15A>G	IARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004859	NM_002161.6(IARS1):c.3346A>C (p.Ser1116Arg)	IARS1 (S1088R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3001522	NM_002161.6(IARS1):c.3001-14GT[3]	IARS1	Microsatellite (intron variant)	not provided	GLikely benign
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 2989668	NM_002161.6(IARS1):c.1788-16C>T	IARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987089	NM_002161.6(IARS1):c.26_27del (p.Ile9fs)	IARS1 (I9fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2984469	NM_002161.6(IARS1):c.1114-11T>C	IARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977357	NM_002161.6(IARS1):c.1296G>T (p.Leu432=)	IARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2973776	NM_002161.6(IARS1):c.598-20_598-16del	IARS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2972595	NM_002161.6(IARS1):c.168T>C (p.Tyr56=)	IARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971506	NM_002161.6(IARS1):c.3706+18C>T	IARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971046	NM_002161.6(IARS1):c.2791+19_2791+20del	IARS1	Deletion (intron variant)	not provided	GBenign
Select item 2966578	NM_002161.6(IARS1):c.598-31_598-13dup	IARS1	Duplication (intron variant)	not provided	GLikely benign
Select item 2960708	NM_002161.6(IARS1):c.2792-5C>T	IARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958976	NM_002161.6(IARS1):c.1305-5T>G	IARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955953	NM_002161.6(IARS1):c.1431+20C>T	IARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954982	NM_002161.6(IARS1):c.1206-16G>A	IARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918519	NM_002161.6(IARS1):c.790T>C (p.Ser264Pro)	IARS1 (S264P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2905213	NM_002161.6(IARS1):c.1575C>T (p.Asp525=)	IARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2902124	NM_002161.6(IARS1):c.1043_1044del (p.Pro348fs)	IARS1 (P307fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2892818	NM_002161.6(IARS1):c.1454C>T (p.Ala485Val)	IARS1 (A444V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2890668	NM_002161.6(IARS1):c.3091G>C (p.Glu1031Gln)	IARS1 (E1038Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2875559	NM_002161.6(IARS1):c.2939C>G (p.Ser980Ter)	IARS1 (S948* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2874540	NM_002161.6(IARS1):c.396+10G>A	IARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874487	NM_002161.6(IARS1):c.2137+9C>T	IARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870111	NM_002161.6(IARS1):c.2880A>G (p.Gln960=)	IARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2857613	NM_002161.6(IARS1):c.895-7T>C	IARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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