ClinVar for MedGen (Select 863025) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585008	NM_020745.4(AARS2):c.995G>A (p.Ser332Asn)	POLR1C, AARS2 (S332N)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy, progressive, with ovarian failure	GUncertain significance
Select item 2585003	NM_020745.4(AARS2):c.2476C>T (p.Arg826Ter)	AARS2, POLR1C (R826*)	Single nucleotide variant (nonsense +1 more)	Leukoencephalopathy, progressive, with ovarian failure	GLikely pathogenic
Select item 2576588	NM_020745.4(AARS2):c.2611dup (p.Thr871fs)	AARS2, POLR1C (T871fs)	Duplication (frameshift variant +1 more)	Leukoencephalopathy, progressive, with ovarian failure +1 more	GPathogenic
Select item 2575890	NM_020745.4(AARS2):c.804G>A (p.Met268Ile)	AARS2, POLR1C (M268I)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy, progressive, with ovarian failure	GLikely pathogenic
Select item 2575889	NM_020745.4(AARS2):c.2255+5G>A	AARS2, POLR1C	Single nucleotide variant (intron variant)	Leukoencephalopathy, progressive, with ovarian failure	GLikely pathogenic
Select item 1708963	NM_020745.4(AARS2):c.907C>A (p.Pro303Thr)	AARS2, POLR1C (P303T)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy, progressive, with ovarian failure	GUncertain significance
Select item 1707535	NM_020745.4(AARS2):c.1695C>G (p.Tyr565Ter)	AARS2, POLR1C (Y565*)	Single nucleotide variant (nonsense +1 more)	Leukoencephalopathy, progressive, with ovarian failure	GLikely pathogenic
Select item 1699307	NM_020745.4(AARS2):c.87_88dup (p.Leu30fs)	AARS2, POLR1C (L30fs)	Duplication (frameshift variant +1 more)	Leukoencephalopathy, progressive, with ovarian failure	GPathogenic
Select item 1699302	NM_020745.4(AARS2):c.1687A>T (p.Asn563Tyr)	AARS2, POLR1C (N563Y)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy, progressive, with ovarian failure	GUncertain significance
Select item 1185550	NM_020745.4(AARS2):c.2793+86_2793+87insCAGA	AARS2, POLR1C	Insertion (intron variant)	not provided +2 more	GBenign
Select item 1185351	NM_020745.4(AARS2):c.1041-29A>G	POLR1C, AARS2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1185350	NM_020745.4(AARS2):c.2255+35C>A	AARS2, POLR1C	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1185349	NM_020745.4(AARS2):c.2598+117G>C	AARS2, POLR1C	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1168141	NM_020745.4(AARS2):c.2683-20A>G	AARS2, POLR1C	Single nucleotide variant (intron variant)	Leukoencephalopathy, progressive, with ovarian failure +2 more	GBenign
Select item 1164206	NM_020745.4(AARS2):c.1015A>G (p.Ile339Val)	AARS2, POLR1C (I339V)	Single nucleotide variant (missense variant)	Leukoencephalopathy, progressive, with ovarian failure +2 more	GBenign
Select item 1030725	NM_020745.4(AARS2):c.1157C>T (p.Ala386Val)	AARS2, POLR1C (A386V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1027411	NM_020745.4(AARS2):c.385A>C (p.Thr129Pro)	AARS2, POLR1C (T129P)	Single nucleotide variant (missense variant)	Leukoencephalopathy, progressive, with ovarian failure	GLikely pathogenic
Select item 1027410	NM_020745.4(AARS2):c.446G>A (p.Cys149Tyr)	AARS2, POLR1C (C149Y)	Single nucleotide variant (missense variant)	Leukoencephalopathy, progressive, with ovarian failure	GLikely pathogenic
Select item 982774	NM_020745.4(AARS2):c.1871G>A (p.Trp624Ter)	AARS2, POLR1C (W624*)	Single nucleotide variant (nonsense)	Leukoencephalopathy, progressive, with ovarian failure	GPathogenic
Select item 545896	NM_020745.4(AARS2):c.781del (p.Gln261fs)	POLR1C, AARS2 (Q261fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 357082	NM_020745.4(AARS2):c.243+6G>A	AARS2, POLR1C	Single nucleotide variant (intron variant)	Leukoencephalopathy, progressive, with ovarian failure +2 more	GBenign
Select item 357059	NM_020745.4(AARS2):c.2607G>A (p.Lys869=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	Leukoencephalopathy, progressive, with ovarian failure +2 more	GBenign
Select item 357055	NM_020745.4(AARS2):c.2871A>G (p.Ser957=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	Leukoencephalopathy, progressive, with ovarian failure +2 more	GBenign
Select item 213963	NM_020745.4(AARS2):c.595C>T (p.Arg199Cys)	AARS2, POLR1C (R199C)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +4 more	GPathogenic/Likely pathogenic
Select item 213952	NM_020745.4(AARS2):c.31_39del (p.Leu12_Arg14del)	POLR1C, AARS2	Deletion (inframe_deletion)	Leukoencephalopathy, progressive, with ovarian failure +2 more	GConflicting classifications of pathogenicity
Select item 143048	NM_020745.4(AARS2):c.1213G>A (p.Glu405Lys)	AARS2, POLR1C (E405K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 143047	NM_020745.4(AARS2):c.2893G>A (p.Gly965Arg)	POLR1C, AARS2 (G965R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 143046	NM_020745.4(AARS2):c.1561C>T (p.Arg521Ter)	AARS2, POLR1C (R521*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 8 +1 more	GPathogenic
Select item 143045	NM_020745.4(AARS2):c.149T>G (p.Phe50Cys)	AARS2, POLR1C (F50C)	Single nucleotide variant (missense variant)	Leukoencephalopathy, progressive, with ovarian failure	GPathogenic
Select item 136231	NM_020745.4(AARS2):c.1752G>A (p.Glu584=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	AARS2-related disorder +4 more	GBenign/Likely benign
Select item 136230	NM_020745.4(AARS2):c.1412G>A (p.Arg471Gln)	AARS2, POLR1C (R471Q)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +3 more	GBenign/Likely benign
Select item 136225	NM_020745.4(AARS2):c.861C>A (p.Asp287Glu)	AARS2, POLR1C (D287E)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +3 more	GBenign/Likely benign

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Items: 32