ClinVar for MedGen (Select 1778117) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2692307	NM_003680.4(YARS1):c.640A>G (p.Met214Val)	YARS1 (M214V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GUncertain significance
Select item 2139189	NM_003680.4(YARS1):c.1078C>G (p.Pro360Ala)	YARS1 (P360A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	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 986742	NM_003680.4(YARS1):c.611A>C (p.Tyr204Ser)	YARS1 (Y204S)	Single nucleotide variant (missense variant)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 +7 more	GUncertain significance
Select item 942051	NM_003680.4(YARS1):c.322A>G (p.Ile108Val)	YARS1 (I108V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GUncertain significance
Select item 662296	NM_003680.4(YARS1):c.499C>A (p.Pro167Thr)	YARS1 (P167T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GPathogenic/Likely pathogenic
Select item 576327	NM_003680.4(YARS1):c.176T>C (p.Ile59Thr)	YARS1 (I59T)	Single nucleotide variant (missense variant)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 +2 more	GConflicting classifications of pathogenicity
Select item 574877	NM_003680.4(YARS1):c.181G>A (p.Asp61Asn)	YARS1 (D61N)	Single nucleotide variant (missense variant)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 +1 more	GUncertain significance
Select item 567612	NM_003680.4(YARS1):c.1099C>T (p.Arg367Trp)	YARS1 (R367W)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 446532	NM_003680.4(YARS1):c.1573G>A (p.Gly525Arg)	YARS1 (G525R)	Single nucleotide variant (missense variant)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2	GPathogenic
Select item 446531	NM_003680.4(YARS1):c.638C>T (p.Pro213Leu)	YARS1 (P213L)	Single nucleotide variant (missense variant)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2	GPathogenic
Select item 297154	NM_003680.4(YARS1):c.946G>A (p.Ala316Thr)	YARS1 (A316T)	Single nucleotide variant (missense variant)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 +3 more	GConflicting classifications of pathogenicity
Select item 6189	NM_003680.4(YARS1):c.586G>A (p.Glu196Lys)	YARS1 (E196K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GPathogenic