ClinVar for MedGen (Select 413754) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3027452	NM_001605.3(AARS1):c.596A>T (p.Asp199Val)	AARS1 (D199V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance
Select item 2584743	NM_001605.3(AARS1):c.479+1G>T	AARS1	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease axonal type 2N	GLikely pathogenic
Select item 2504064	NM_001605.3(AARS1):c.1815C>G (p.His605Gln)	AARS1 (H605Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N	GLikely pathogenic
Select item 1709475	NM_001605.3(AARS1):c.1087G>C (p.Glu363Gln)	AARS1 (E363Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance
Select item 1685482	NM_001605.3(AARS1):c.977G>C (p.Arg326Pro)	AARS1 (R326P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N	GPathogenic
Select item 1685481	NM_001605.3(AARS1):c.2192C>G (p.Ser731Trp)	AARS1 (S731W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N	GPathogenic
Select item 1682320	NM_001605.3(AARS1):c.312G>A (p.Trp104Ter)	AARS1 (W104*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic/Likely pathogenic
Select item 1682254	NM_001605.3(AARS1):c.1093A>G (p.Lys365Glu)	AARS1 (K365E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1682248	NM_001605.3(AARS1):c.1180G>T (p.Asp394Tyr)	AARS1 (D394Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1682191	NM_001605.3(AARS1):c.1878C>T (p.Gly626=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1682085	NM_001605.3(AARS1):c.2757G>A (p.Trp919Ter)	AARS1 (W919*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2N +2 more	GUncertain significance
Select item 1333873	NM_001605.3(AARS1):c.1514C>T (p.Thr505Met)	AARS1 (T505M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance
Select item 1323797	NM_001605.3(AARS1):c.1009G>A (p.Glu337Lys)	AARS1 (E337K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1061777	NM_001605.3(AARS1):c.1969A>G (p.Asn657Asp)	AARS1 (N657D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N +4 more	GUncertain significance
Select item 1032755	NM_001605.3(AARS1):c.1444G>T (p.Asp482Tyr)	AARS1 (D482Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance
Select item 955835	NM_001605.3(AARS1):c.1171C>T (p.Arg391Cys)	AARS1 (R391C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N +1 more	GConflicting classifications of pathogenicity
Select item 947453	NM_001605.3(AARS1):c.2285A>G (p.Lys762Arg)	AARS1 (K762R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 888558	NM_001605.3(AARS1):c.828C>G (p.Ala276=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2N +1 more	GConflicting classifications of pathogenicity
Select item 888557	NM_001605.3(AARS1):c.946G>T (p.Asp316Tyr)	AARS1 (D316Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance
Select item 888500	NM_001605.3(AARS1):c.2019G>C (p.Leu673=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2N	GLikely benign
Select item 888499	NM_001605.3(AARS1):c.2113G>A (p.Glu705Lys)	AARS1 (E705K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance
Select item 887307	NM_001605.3(AARS1):c.1059C>T (p.Val353=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 887306	NM_001605.3(AARS1):c.1110G>C (p.Met370Ile)	AARS1 (M370I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 886311	NM_001605.3(AARS1):c.1375G>A (p.Gly459Arg)	AARS1 (G459R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N +2 more	GUncertain significance
Select item 885338	NM_001605.3(AARS1):c.*32T>C	AARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance
Select item 885337	NM_001605.3(AARS1):c.*131G>A	AARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance
Select item 885336	NM_001605.3(AARS1):c.*141A>G	AARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2N	GBenign
Select item 884346	NM_001605.3(AARS1):c.501C>T (p.Leu167=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2N +1 more	GConflicting classifications of pathogenicity
Select item 884281	NM_001605.3(AARS1):c.1633G>A (p.Glu545Lys)	AARS1 (E545K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N +1 more	GUncertain significance
Select item 884280	NM_001605.3(AARS1):c.1656T>C (p.Asp552=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2N +1 more	GBenign/Likely benign
Select item 810831	NM_001605.3(AARS1):c.1043C>T (p.Thr348Met)	AARS1 (T348M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 704502	NM_001605.3(AARS1):c.2730C>T (p.Ala910=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2N +1 more	GLikely benign
Select item 700156	NM_001605.3(AARS1):c.2592C>T (p.Ser864=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2N +1 more	GBenign/Likely benign
Select item 698631	NM_001605.3(AARS1):c.430G>A (p.Ala144Thr)	AARS1 (A144T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 689625	NM_001605.3(AARS1):c.618G>T (p.Gln206His)	AARS1 (Q206H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 681412	NM_001605.3(AARS1):c.342A>C (p.Ala114=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2N +2 more	GConflicting classifications of pathogenicity
Select item 656136	NM_015459.5(ATL3):c.1392A>G (p.Ile464Met)	ATL3 (I446M +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 639394	NM_001605.3(AARS1):c.726G>A (p.Met242Ile)	AARS1 (M242I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 637511	NM_001605.3(AARS1):c.1823C>T (p.Thr608Met)	AARS1 (T608M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GConflicting classifications of pathogenicity
Select item 632263	NM_001605.3(AARS1):c.1762C>T (p.Gln588Ter)	AARS1 (Q588*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance
Select item 623889	NM_001605.3(AARS1):c.976C>T (p.Arg326Trp)	AARS1 (R326W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 579370	NM_001605.3(AARS1):c.212A>G (p.Asn71Ser)	AARS1 (N71S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N +3 more	GUncertain significance
Select item 549673	NM_001605.3(AARS1):c.328T>C (p.Phe110Leu)	AARS1 (F110L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 543286	NM_001605.3(AARS1):c.1509G>A (p.Val503=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2N +1 more	GBenign/Likely benign
Select item 514785	NM_001605.3(AARS1):c.2401-11A>G	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 476746	NM_001605.3(AARS1):c.959G>A (p.Arg320His)	AARS1 (R320H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 29 +5 more	GUncertain significance
Select item 476742	NM_001605.3(AARS1):c.63C>T (p.Asn21=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2N +2 more	GConflicting classifications of pathogenicity
Select item 449873	NM_001605.3(AARS1):c.259G>A (p.Asp87Asn)	AARS1 (D87N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 418752	NM_001605.3(AARS1):c.-21-11dup	AARS1	Duplication (intron variant)	not specified +4 more	GLikely benign
Select item 412288	NM_001605.3(AARS1):c.1019A>G (p.Asn340Ser)	AARS1 (N340S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 390405	NM_001605.3(AARS1):c.1671+10C>T	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
Select item 382360	NM_001605.3(AARS1):c.1428G>C (p.Arg476=)	AARS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 377399	NM_001605.3(AARS1):c.2178-14G>A	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2N +2 more	GLikely benign
Select item 320357	NM_001605.2(AARS1):c.-108T>C	AARS1	Single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance
Select item 320356	NM_001605.3(AARS1):c.64G>A (p.Glu22Lys)	AARS1 (E22K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GBenign/Likely benign
Select item 320355	NM_001605.3(AARS1):c.91A>G (p.Thr31Ala)	AARS1 (T31A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 320354	NM_001605.3(AARS1):c.333+3A>C	AARS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 320353	NM_001605.3(AARS1):c.480-8T>G	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 320352	NM_001605.3(AARS1):c.561C>T (p.Cys187=)	AARS1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 320351	NM_001605.3(AARS1):c.671+3A>G	AARS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 320350	NM_001605.3(AARS1):c.741G>A (p.Leu247=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +3 more	GBenign/Likely benign
Select item 320349	NM_001605.3(AARS1):c.806C>G (p.Ala269Gly)	AARS1 (A269G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance
Select item 320348	NM_001605.3(AARS1):c.824G>A (p.Gly275Asp)	AARS1 (G275D)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 320347	NM_001605.3(AARS1):c.904G>A (p.Ala302Thr)	AARS1 (A302T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 320346	NM_001605.3(AARS1):c.962+15C>T	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2N +1 more	GConflicting classifications of pathogenicity
Select item 320345	NM_001605.3(AARS1):c.1120A>G (p.Ile374Val)	AARS1 (I374V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 320344	NM_001605.3(AARS1):c.1253A>G (p.Tyr418Cys)	AARS1 (Y418C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 320343	NM_001605.3(AARS1):c.1332G>A (p.Glu444=)	AARS1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 320342	NM_001605.3(AARS1):c.1410C>T (p.Ile470=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +3 more	GBenign/Likely benign
Select item 320341	NM_001605.3(AARS1):c.1493-7T>C	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 320340	NM_001605.3(AARS1):c.1587G>A (p.Leu529=)	AARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 320339	NM_001605.3(AARS1):c.1596C>A (p.Thr532=)	AARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 320338	NM_001605.3(AARS1):c.1611G>T (p.Glu537Asp)	AARS1 (E537D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 320337	NM_001605.3(AARS1):c.1737C>T (p.Ile579=)	AARS1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 320336	NM_001605.3(AARS1):c.1824G>A (p.Thr608=)	AARS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 320335	NM_001605.3(AARS1):c.1846C>T (p.Arg616Cys)	AARS1 (R616C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GUncertain significance
Select item 320334	NM_001605.3(AARS1):c.2109G>C (p.Val703=)	AARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 320333	NM_001605.3(AARS1):c.2129C>T (p.Pro710Leu)	AARS1 (P710L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 320332	NM_001605.3(AARS1):c.2217C>T (p.Ile739=)	AARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 320331	NM_001605.3(AARS1):c.2240A>G (p.Lys747Arg)	AARS1 (K747R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance
Select item 320330	NM_001605.3(AARS1):c.2378G>C (p.Arg793Thr)	AARS1 (R793T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance
Select item 320329	NM_001605.3(AARS1):c.2421C>A (p.Ile807=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 320328	NM_001605.3(AARS1):c.2580G>A (p.Leu860=)	AARS1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 320327	NM_001605.3(AARS1):c.2596G>A (p.Ala866Thr)	AARS1 (A866T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 320326	NM_001605.3(AARS1):c.2700G>A (p.Thr900=)	AARS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 320325	NM_001605.3(AARS1):c.2715T>C (p.Val905=)	AARS1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 320324	NM_001605.3(AARS1):c.2732A>G (p.Asn911Ser)	AARS1 (N911S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +5 more	GConflicting classifications of pathogenicity
Select item 320323	NM_001605.3(AARS1):c.*74A>T	AARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2N +1 more	GBenign
Select item 320322	NM_001605.3(AARS1):c.*169C>G	AARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance
Select item 320321	NM_001605.3(AARS1):c.*213C>T	AARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2N	GLikely benign
Select item 320320	NM_001605.3(AARS1):c.*251A>C	AARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2N +1 more	GBenign/Likely benign
Select item 320319	NM_001605.3(AARS1):c.*324G>A	AARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2N	GUncertain significance
Select item 287973	NM_001605.3(AARS1):c.903C>T (p.His301=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2N +3 more	GBenign
Select item 282997	NM_001605.3(AARS1):c.1044G>C (p.Thr348=)	AARS1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 246158	NM_001605.3(AARS1):c.1481G>T (p.Ser494Ile)	AARS1 (S494I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 246063	NM_001605.3(AARS1):c.2186G>A (p.Arg729Gln)	AARS1 (R729Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N +4 more	GConflicting classifications of pathogenicity
Select item 245983	NM_001605.3(AARS1):c.518A>G (p.Asp173Gly)	AARS1 (D173G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 239031	NM_001605.3(AARS1):c.1897C>T (p.Arg633Cys)	AARS1 (R633C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N +1 more	GUncertain significance
Select item 239030	NM_001605.3(AARS1):c.1404C>T (p.Tyr468=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2N +7 more	GBenign/Likely benign
Select item 220930	NM_001605.3(AARS1):c.2459A>G (p.Lys820Arg)	AARS1 (K820R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GLikely benign

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