Related gene-specific medical variations for Gene (Select 8565) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 110

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363616	NM_003680.4(YARS1):c.809C>T (p.Pro270Leu)	LOC126805688, YARS1 (P270L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360302	NM_003680.4(YARS1):c.188T>A (p.Leu63Ter)	YARS1 (L63*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3252054	NM_003680.4(YARS1):c.689C>T (p.Ser230Phe)	LOC126805688, YARS1 (S230F)	Single nucleotide variant (missense variant)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2	GUncertain significance
Select item 3247747	NC_000001.10:g.(?_33241582)_(33256875_?)del	YARS1	Deletion	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3238857	NM_003680.4(YARS1):c.471G>C (p.Glu157Asp)	YARS1 (E157D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3191406	NM_003680.4(YARS1):c.823T>C (p.Phe275Leu)	LOC126805688, YARS1 (F275L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3061062	NM_003680.4(YARS1):c.761del (p.Asn254fs)	LOC126805688, YARS1 (N254fs)	Deletion (frameshift variant)	YARS1-related disorder	GUncertain significance
Select item 3019592	NM_003680.4(YARS1):c.43A>G (p.Thr15Ala)	S100PBP, YARS1 (T15A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3006071	NM_003680.4(YARS1):c.854del (p.Gly285fs)	LOC126805688, YARS1 (G285fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2914417	NM_003680.4(YARS1):c.749G>C (p.Cys250Ser)	LOC126805688, YARS1 (C250S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2912070	NM_003680.4(YARS1):c.779T>C (p.Val260Ala)	LOC126805688, YARS1 (V260A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2910103	NM_003680.4(YARS1):c.710G>A (p.Arg237Gln)	LOC126805688, YARS1 (R237Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2891480	NM_003680.4(YARS1):c.876C>T (p.Tyr292=)	LOC126805688, YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2820625	NM_003680.4(YARS1):c.801C>G (p.Val267=)	LOC126805688, YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2804480	NM_003680.4(YARS1):c.749G>A (p.Cys250Tyr)	LOC126805688, YARS1 (C250Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2802040	NM_003680.4(YARS1):c.695T>C (p.Ile232Thr)	LOC126805688, YARS1 (I232T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2758561	NM_003680.4(YARS1):c.57+10G>T	S100PBP, YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2741359	NM_003680.4(YARS1):c.870A>G (p.Thr290=)	LOC126805688, YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2733614	NM_003680.4(YARS1):c.802C>T (p.Leu268Phe)	LOC126805688, YARS1 (L268F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2731485	NM_003680.4(YARS1):c.906+12G>T	LOC126805688, YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2722829	NM_003680.4(YARS1):c.820G>C (p.Glu274Gln)	LOC126805688, YARS1 (E274Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2694293	NM_003680.4(YARS1):c.762T>C (p.Asn254=)	LOC126805688, YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
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 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 2438631	NM_003680.4(YARS1):c.1279A>C (p.Lys427Gln)	YARS1 (K427Q)	Single nucleotide variant (missense variant)	not provided	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 2389445	NM_003680.4(YARS1):c.773A>G (p.Asn258Ser)	LOC126805688, YARS1 (N258S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GUncertain significance
Select item 2162375	NM_003680.4(YARS1):c.836G>A (p.Arg279Gln)	LOC126805688, YARS1 (R279Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2147607	NM_003680.4(YARS1):c.715G>A (p.Glu239Lys)	LOC126805688, YARS1 (E239K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2134126	NM_003680.4(YARS1):c.57+1G>T	S100PBP, YARS1	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2130533	NM_003680.4(YARS1):c.808C>G (p.Pro270Ala)	LOC126805688, YARS1 (P270A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2099112	NM_003680.4(YARS1):c.54G>T (p.Leu18=)	S100PBP, YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2082343	NM_003680.4(YARS1):c.737A>G (p.Lys246Arg)	LOC126805688, YARS1 (K246R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2063322	NM_003680.4(YARS1):c.833T>C (p.Leu278Pro)	LOC126805688, YARS1 (L278P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2062581	NM_003680.4(YARS1):c.718_726del (p.Asp240_Lys242del)	LOC126805688, YARS1	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2005405	NM_003680.4(YARS1):c.727A>G (p.Lys243Glu)	LOC126805688, YARS1 (K243E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 1979405	NM_003680.4(YARS1):c.839A>G (p.Asp280Gly)	LOC126805688, YARS1 (D280G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 1977918	NM_003680.4(YARS1):c.815A>G (p.Lys272Arg)	LOC126805688, YARS1 (K272R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 1806855	NM_003680.4(YARS1):c.732dup (p.Leu245fs)	LOC126805688, YARS1 (L245fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1806854	NM_003680.4(YARS1):c.510+2_510+10del	YARS1	Deletion (splice donor variant)	not provided	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 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 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 1700208	NM_003680.4(YARS1):c.485G>C (p.Ser162Thr)	YARS1 (S162T)	Single nucleotide variant (missense variant)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	GLikely pathogenic
Select item 1700207	NM_003680.4(YARS1):c.46C>T (p.Arg16Trp)	S100PBP, YARS1 (R16W)	Single nucleotide variant (missense variant)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	GLikely pathogenic
Select item 1693091	NM_003680.4(YARS1):c.746_748del (p.Phe249del)	YARS1, LOC126805688 (F249del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1681543	NM_003680.4(YARS1):c.42C>T (p.Ile14=)	S100PBP, YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 1681542	NM_003680.4(YARS1):c.44C>A (p.Thr15Asn)	S100PBP, YARS1 (T15N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 1681541	NM_003680.4(YARS1):c.57+1G>A	S100PBP, YARS1	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 1681540	NM_003680.4(YARS1):c.57+4A>T	S100PBP, YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 1681539	NM_003680.4(YARS1):c.57+10G>A	S100PBP, YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 1681516	NM_003680.4(YARS1):c.685-18C>G	LOC126805688, YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 1681515	NM_003680.4(YARS1):c.685-13dup	LOC126805688, YARS1	Duplication (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 1681514	NM_003680.4(YARS1):c.692A>C (p.Lys231Thr)	LOC126805688, YARS1 (K231T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 1681513	NM_003680.4(YARS1):c.736A>T (p.Lys246Ter)	LOC126805688, YARS1 (K246*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 1681512	NM_003680.4(YARS1):c.820G>A (p.Glu274Lys)	LOC126805688, YARS1 (E274K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 1681511	NM_003680.4(YARS1):c.820+9C>T	LOC126805688, YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 1681510	NM_003680.4(YARS1):c.820+11C>T	LOC126805688, YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 1681509	NM_003680.4(YARS1):c.820+19T>G	LOC126805688, YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 1681508	NM_003680.4(YARS1):c.830T>G (p.Ile277Ser)	LOC126805688, YARS1 (I277S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 1681507	NM_003680.4(YARS1):c.835C>T (p.Arg279Ter)	LOC126805688, YARS1 (R279*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GConflicting classifications of pathogenicity
Select item 1681506	NM_003680.4(YARS1):c.858C>T (p.Asn286=)	LOC126805688, YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 1681505	NM_003680.4(YARS1):c.906+9A>G	LOC126805688, YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 1315737	NM_003680.4(YARS1):c.821-1G>C	LOC126805688, YARS1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1271492	NM_003680.4(YARS1):c.57+174C>T	S100PBP, YARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256116	NM_003680.4(YARS1):c.709C>T (p.Arg237Trp)	LOC126805688, YARS1 (R237W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1253354	NM_003680.4(YARS1):c.1140+209A>G	LOC132088695, YARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220072	NM_003680.4(YARS1):c.685-278G>A	LOC126805688, YARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209478	NM_003680.4(YARS1):c.57+269C>G	S100PBP, YARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1175561	NM_003680.4(YARS1):c.821-74_821-52del	LOC126805688, YARS1	Deletion (intron variant)	not provided	GBenign
Select item 1145987	NM_003680.4(YARS1):c.821-7C>T	LOC126805688, YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 1139521	NM_003680.4(YARS1):c.870A>C (p.Thr290=)	LOC126805688, YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 1102663	NM_003680.4(YARS1):c.45C>T (p.Thr15=)	S100PBP, YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GConflicting classifications of pathogenicity
Select item 1096964	NM_003680.4(YARS1):c.807T>C (p.Phe269=)	LOC126805688, YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 1046272	NM_003680.4(YARS1):c.689C>A (p.Ser230Tyr)	LOC126805688, YARS1 (S230Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 1034573	NM_003680.4(YARS1):c.700C>G (p.Leu234Val)	LOC126805688, YARS1 (L234V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 1009686	NM_003680.4(YARS1):c.799G>A (p.Val267Ile)	LOC126805688, YARS1 (V267I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 1008426	NM_003680.4(YARS1):c.17G>A (p.Ser6Asn)	S100PBP, YARS1 (S6N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 999654	NM_003680.4(YARS1):c.857A>G (p.Asn286Ser)	LOC126805688, YARS1 (N286S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 996695	NM_003680.4(YARS1):c.806T>C (p.Phe269Ser)	LOC126805688, YARS1 (F269S)	Single nucleotide variant (missense variant)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 +5 more	GPathogenic/Likely pathogenic
Select item 944309	NM_003680.4(YARS1):c.899C>T (p.Ala300Val)	LOC126805688, YARS1 (A300V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 944087	NM_003680.4(YARS1):c.799G>C (p.Val267Leu)	LOC126805688, YARS1 (V267L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 939386	NM_003680.4(YARS1):c.877G>A (p.Val293Met)	LOC126805688, YARS1 (V293M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 935155	NM_003680.4(YARS1):c.763G>A (p.Val255Met)	LOC126805688, YARS1 (V255M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 930432	NM_003680.4(YARS1):c.566_567del (p.Arg189fs)	YARS1 (R189fs)	Microsatellite (frameshift variant)	See cases	GUncertain significance
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
Select item 847059	NM_003680.4(YARS1):c.827T>A (p.Val276Glu)	LOC126805688, YARS1 (V276E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 840967	NM_003680.4(YARS1):c.819C>T (p.Ser273=)	YARS1, LOC126805688	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 793838	NM_003680.4(YARS1):c.820+9C>G	YARS1, LOC126805688	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 673894	NM_003680.4(YARS1):c.1140+253A>G	LOC132088695, YARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670336	NM_003680.4(YARS1):c.685-211A>G	LOC126805688, YARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 665744	NM_003680.4(YARS1):c.880G>A (p.Asp294Asn)	LOC126805688, YARS1 (D294N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 658402	NM_003680.4(YARS1):c.821-3T>C	LOC126805688, YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GUncertain significance
Select item 533457	NM_003680.4(YARS1):c.41T>C (p.Ile14Thr)	S100PBP, YARS1 (I14T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 508808	NM_003680.4(YARS1):c.820+17del	LOC126805688, YARS1	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 464881	NM_003680.4(YARS1):c.795G>C (p.Lys265Asn)	YARS1, LOC126805688 (K265N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 464880	NM_003680.4(YARS1):c.746T>G (p.Phe249Cys)	LOC126805688, YARS1 (F249C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 464879	NM_003680.4(YARS1):c.739_740delinsGC (p.Lys247Ala)	YARS1, LOC126805688 (K247A)	Indel (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 464878	NM_003680.4(YARS1):c.695T>G (p.Ile232Ser)	LOC126805688, YARS1 (I232S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance

<< First< Prev

Page of 2