Related gene-specific medical variations for Gene (Select 4677) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068086	NM_004539.4(NARS1):c.521C>T (p.Ser174Phe)	NARS1 (S174F)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GUncertain significance
Select item 3064426	NM_004539.4(NARS1):c.245A>C (p.Lys82Thr)	NARS1 (K82T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GUncertain significance
Select item 1700235	NM_004539.4(NARS1):c.179A>C (p.Lys60Thr)	NARS1 (K60T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GLikely pathogenic
Select item 1700234	NM_004539.4(NARS1):c.713G>A (p.Arg238Gln)	NARS1 (R238Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GLikely pathogenic
Select item 1679654	NM_004539.4(NARS1):c.646G>T (p.Ala216Ser)	NARS1 (A216S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities +1 more	GUncertain significance
Select item 1341809	NM_004539.4(NARS1):c.644G>T (p.Gly215Val)	NARS1 (G215V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities	GUncertain significance

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