ClinVar for MedGen (Select 1731507) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237544	NM_004539.4(NARS1):c.1555G>A (p.Gly519Ser)	NARS1 (G519S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GUncertain significance
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 2505476	NM_004539.4(NARS1):c.1251+699A>G	NARS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GUncertain significance
Select item 2498743	NM_004539.4(NARS1):c.616G>A (p.Glu206Lys)	NARS1 (E206K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 1801359	NM_004539.4(NARS1):c.1057C>T (p.Arg353Trp)	NARS1 (R353W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GUncertain significance
Select item 1801358	NM_004539.4(NARS1):c.1040T>C (p.Phe347Ser)	NARS1 (F347S)	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 1700050	NM_004539.4(NARS1):c.1564C>T (p.Arg522Ter)	NARS1 (R522*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GPathogenic/Likely 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 1526422	NM_004539.4(NARS1):c.986G>A (p.Arg329Gln)	NARS1 (R329Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GLikely pathogenic
Select item 1526421	NM_004539.4(NARS1):c.676G>C (p.Val226Leu)	NARS1 (V226L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GLikely pathogenic
Select item 1077117	NM_004539.4(NARS1):c.1376C>T (p.Thr459Ile)	NARS1 (T459I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1077116	NM_004539.4(NARS1):c.1264G>A (p.Ala422Thr)	NARS1 (A422T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GUncertain significance
Select item 1077115	NM_004539.4(NARS1):c.1049T>C (p.Leu350Pro)	NARS1 (L350P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GUncertain significance
Select item 1077113	NM_004539.4(NARS1):c.394G>T (p.Gly132Cys)	NARS1 (G132C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GUncertain significance
Select item 1077112	NM_004539.4(NARS1):c.178A>G (p.Lys60Glu)	NARS1 (K60E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 986308	NM_004539.4(NARS1):c.50C>T (p.Thr17Met)	NARS1 (T17M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GLikely pathogenic
Select item 986306	NM_004539.4(NARS1):c.32G>C (p.Arg11Pro)	NARS1 (R11P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GUncertain significance
Select item 986305	NM_004539.4(NARS1):c.1633C>T (p.Arg545Cys)	NARS1 (R545C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GLikely pathogenic
Select item 986303	NM_004539.4(NARS1):c.203dup (p.Met69fs)	NARS1 (M69fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GPathogenic
Select item 983068	NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala)	NARS1 (D356A)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 982711	NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter)	NARS1 (R534*)	Single nucleotide variant (nonsense)	Developmental disorder +4 more	GPathogenic

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Items: 24