ClinVar for MedGen (Select 1764121) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3393321	NM_004539.4(NARS1):c.986G>C (p.Arg329Pro)	NARS1 (R329P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities +1 more	GUncertain significance
Select item 3376918	NM_004539.4(NARS1):c.1565G>A (p.Arg522Gln)	NARS1 (R522Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities	GUncertain significance
Select item 3376765	NM_004539.4(NARS1):c.493-1G>T	NARS1	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities	GUncertain significance
Select item 3362301	NM_004539.4(NARS1):c.1228G>A (p.Gly410Arg)	NARS1 (G410R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities	GLikely pathogenic
Select item 3242204	NM_004539.4(NARS1):c.661A>C (p.Asn221His)	NARS1 (N221H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities	GUncertain significance
Select item 2431803	NM_004539.4(NARS1):c.889A>C (p.Thr297Pro)	NARS1 (T297P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities	GUncertain significance
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
Select item 1319949	NM_004539.4(NARS1):c.547G>A (p.Gly183Arg)	NARS1 (G183R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities	GUncertain significance
Select item 1077118	NM_004539.4(NARS1):c.1525G>A (p.Gly509Ser)	NARS1 (G509S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities	GUncertain significance
Select item 1077114	NM_004539.4(NARS1):c.965G>T (p.Arg322Leu)	NARS1 (R322L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities	GLikely pathogenic
Select item 982711	NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter)	NARS1 (R534*)	Single nucleotide variant (nonsense)	Developmental disorder +4 more	GPathogenic