ClinVar for MedGen (Select 1794267) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362464	NM_001605.3(AARS1):c.1993-1G>A	AARS1	Single nucleotide variant (splice acceptor variant)	Trichothiodystrophy 8, nonphotosensitive	GLikely pathogenic
Select item 3065331	NM_001605.3(AARS1):c.673G>C (p.Glu225Gln)	AARS1 (E225Q)	Single nucleotide variant (missense variant)	Trichothiodystrophy 8, nonphotosensitive	GLikely pathogenic
Select item 1331695	NM_001605.3(AARS1):c.2267C>T (p.Thr756Ile)	AARS1 (T756I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1331694	NM_001605.3(AARS1):c.2176A>G (p.Thr726Ala)	AARS1 (T726A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1331693	NM_001605.3(AARS1):c.2702G>A (p.Cys901Tyr)	AARS1 (C901Y)	Single nucleotide variant (missense variant)	Trichothiodystrophy 8, nonphotosensitive	GPathogenic
Select item 1061777	NM_001605.3(AARS1):c.1969A>G (p.Asn657Asp)	AARS1 (N657D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N +4 more	GUncertain significance
Select item 1025371	NM_001605.3(AARS1):c.621C>G (p.Asp207Glu)	AARS1 (D207E)	Single nucleotide variant (missense variant)	AARS1-related disorder +2 more	GUncertain significance
Select item 863746	NM_001605.3(AARS1):c.1007A>G (p.His336Arg)	AARS1 (H336R)	Single nucleotide variant (missense variant)	Trichothiodystrophy 8, nonphotosensitive +2 more	GConflicting classifications of pathogenicity
Select item 654144	NM_001605.3(AARS1):c.2096T>C (p.Ile699Thr)	AARS1 (I699T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 476746	NM_001605.3(AARS1):c.959G>A (p.Arg320His)	AARS1 (R320H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 29 +5 more	GUncertain significance
Select item 418752	NM_001605.3(AARS1):c.-21-11dup	AARS1	Duplication (intron variant)	not specified +4 more	GLikely benign
Select item 282997	NM_001605.3(AARS1):c.1044G>C (p.Thr348=)	AARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +7 more	GBenign/Likely benign
Select item 245833	NM_001605.3(AARS1):c.1664G>T (p.Ser555Ile)	AARS1 (S555I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 239030	NM_001605.3(AARS1):c.1404C>T (p.Tyr468=)	AARS1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 220723	NM_001605.3(AARS1):c.2900A>T (p.Lys967Met)	AARS1 (K967M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +5 more	GBenign/Likely benign
Select item 216549	NM_001605.3(AARS1):c.700C>T (p.Pro234Ser)	AARS1 (P234S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +6 more	GBenign/Likely benign
Select item 215497	NM_001605.3(AARS1):c.1672-4T>A	AARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +7 more	GBenign/Likely benign