ClinVar (all) for Orgtrack (Select 505249) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1164094	NM_001605.3(AARS1):c.1574G>A (p.Cys525Tyr)	AARS1 (C525Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 29	GLikely pathogenic
Select item 1164093	NM_001605.3(AARS1):c.562_563inv (p.Ser188Leu)	AARS1 (S188L)	Inversion (missense variant)	Developmental and epileptic encephalopathy, 29	GPathogenic
Select item 1164091	NM_001605.3(AARS1):c.296A>G (p.Glu99Gly)	AARS1 (E99G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 29	GPathogenic
Select item 1036988	NM_001605.3(AARS1):c.1741G>A (p.Gly581Ser)	AARS1 (G581S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 29 +1 more	GConflicting classifications of pathogenicity
Select item 873018	NM_004548.3(NDUFB10):c.131-442G>C	NDUFB10	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency	GLikely pathogenic
Select item 808067	NM_001605.3(AARS1):c.1997T>C (p.Val666Ala)	AARS1 (V666A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 29 +2 more	GConflicting classifications of pathogenicity
Select item 805942	NM_002055.5(GFAP):c.1171+473C>A	GFAP	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 689461	NM_014698.3(TMEM63A):c.1699G>A (p.Gly567Ser)	TMEM63A (G567S)	Single nucleotide variant (missense variant)	Leukodystrophy	GPathogenic
Select item 689460	NM_014698.3(TMEM63A):c.1385T>A (p.Ile462Asn)	TMEM63A (I462N)	Single nucleotide variant (missense variant)	Leukodystrophy	GPathogenic
Select item 689459	NM_014698.3(TMEM63A):c.503G>A (p.Gly168Glu)	TMEM63A (G168E)	Single nucleotide variant (missense variant)	Leukodystrophy	GPathogenic
Select item 665504	NM_001605.3(AARS1):c.778A>G (p.Thr260Ala)	AARS1 (T260A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 29 +1 more	GConflicting classifications of pathogenicity
Select item 156375	NC_012920.1(MT-ND3):m.10134C>A	MT-ND3	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database