Related gene-specific medical variations for Gene (Select 64766) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 1271492	NM_003680.4(YARS1):c.57+174C>T	S100PBP, YARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209478	NM_003680.4(YARS1):c.57+269C>G	S100PBP, YARS1	Single nucleotide variant (intron variant)	not provided	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 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 873889	NM_003680.3(YARS1):c.-782G>A	LOC132088696, S100PBP +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	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 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 423207	NM_003680.4(YARS1):c.8dup (p.Asp3fs)	S100PBP, YARS1 (D3fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 392635	NM_003680.4(YARS1):c.-28G>A	S100PBP, YARS1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 382756	NM_003680.4(YARS1):c.57+16T>C	S100PBP, YARS1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 297177	NM_003680.3(YARS1):c.-741C>T	LOC132088696, S100PBP +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 297176	NM_003680.3(YARS1):c.-738C>G	YARS1, LOC132088696 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GBenign
Select item 297175	NM_003680.3(YARS1):c.-683C>T	S100PBP, YARS1 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GBenign
Select item 297174	NM_003680.3(YARS1):c.-662G>A	S100PBP, YARS1 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 297164	NM_003680.4(YARS1):c.-110G>A	S100PBP, YARS1	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 297163	NM_003680.4(YARS1):c.57+14G>T	S100PBP, YARS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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

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Links from Gene

Items: 28