ClinVar for MedGen (Select 908570) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2682367	NM_001605.3(AARS1):c.1980dup (p.Glu661Ter)	AARS1 (E661*)	Duplication (nonsense)	Developmental and epileptic encephalopathy, 29	GPathogenic
Select item 2671773	NM_001605.3(AARS1):c.989G>A (p.Arg330Gln)	AARS1 (R330Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 29	GUncertain significance
Select item 2573065	NM_001605.3(AARS1):c.887G>A (p.Arg296Gln)	AARS1 (R296Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 2573064	NM_001605.3(AARS1):c.287C>T (p.Thr96Ile)	AARS1 (T96I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 29	GUncertain significance
Select item 2441640	NM_001605.3(AARS1):c.232G>T (p.Ala78Ser)	AARS1 (A78S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 29	GUncertain significance
Select item 1706440	NM_001605.3(AARS1):c.141C>A (p.Asn47Lys)	AARS1 (N47K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 29	GUncertain significance
Select item 1687529	NM_001605.3(AARS1):c.241A>G (p.Lys81Glu)	AARS1 (K81E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 29	GUncertain significance
Select item 1687325	NM_001605.3(AARS1):c.161T>C (p.Leu54Pro)	AARS1 (L54P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 29	GUncertain significance
Select item 1682191	NM_001605.3(AARS1):c.1878C>T (p.Gly626=)	AARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1331683	NM_001605.3(AARS1):c.1897del (p.Arg633fs)	AARS1 (R633fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 29	GLikely pathogenic
Select item 1328514	NM_001605.3(AARS1):c.86C>T (p.Ser29Phe)	AARS1 (S29F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 29	GUncertain significance
Select item 1325386	NM_001605.3(AARS1):c.2067dup (p.Tyr690fs)	AARS1 (Y690fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 29	GPathogenic
Select item 1303974	NM_001605.3(AARS1):c.2248C>T (p.Arg750Trp)	AARS1 (R750W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 29 +2 more	GUncertain significance
Select item 1299302	NM_001605.3(AARS1):c.1786C>T (p.Pro596Ser)	AARS1 (P596S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 29	GUncertain significance
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 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 1036988	NM_001605.3(AARS1):c.1741G>A (p.Gly581Ser)	AARS1 (G581S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1029358	NM_001605.3(AARS1):c.74A>G (p.Tyr25Cys)	AARS1 (Y25C)	Single nucleotide variant (missense variant)	not provided +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 808067	NM_001605.3(AARS1):c.1997T>C (p.Val666Ala)	AARS1 (V666A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 807355	NM_001605.3(AARS1):c.988C>T (p.Arg330Ter)	AARS1 (R330*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 2 +1 more	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 639394	NM_001605.3(AARS1):c.726G>A (p.Met242Ile)	AARS1 (M242I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 549676	NM_001605.3(AARS1):c.2873T>C (p.Phe958Ser)	AARS1 (F958S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 29	GLikely pathogenic
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 476726	NM_001605.3(AARS1):c.1001A>T (p.Tyr334Phe)	AARS1 (Y334F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 449873	NM_001605.3(AARS1):c.259G>A (p.Asp87Asn)	AARS1 (D87N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 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 320325	NM_001605.3(AARS1):c.2715T>C (p.Val905=)	AARS1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
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 246598	NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp)	AARS1 (G913D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 246063	NM_001605.3(AARS1):c.2186G>A (p.Arg729Gln)	AARS1 (R729Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N +4 more	GConflicting classifications of pathogenicity
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
Select item 190103	NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly)	AARS1 (R751G)	Single nucleotide variant (missense variant)	AARS-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 190102	NM_001605.3(AARS1):c.242A>C (p.Lys81Thr)	AARS1 (K81T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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Items: 41