"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "AARS2"[gen - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 932472	NM_020745.4(AARS2):c.2630G>A (p.Arg877Gln)	AARS2, POLR1C (R877Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 213959	NM_020745.4(AARS2):c.2551C>G (p.Leu851Val)	AARS2, POLR1C (L851V)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +2 more	GUncertain significance
Select item 1638229	NM_020745.4(AARS2):c.2416C>T (p.Arg806Trp)	AARS2, POLR1C (R806W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 136215	NM_020745.4(AARS2):c.2253G>A (p.Gly751=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	AARS2-related condition +3 more	GBenign/Likely benign
Select item 547003	NM_020745.4(AARS2):c.2086A>T (p.Met696Leu)	AARS2, POLR1C (M696L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 136213	NM_020745.4(AARS2):c.2033G>A (p.Arg678Gln)	POLR1C, AARS2 (R678Q)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1176510	NM_020745.4(AARS2):c.2007+1G>C	AARS2, POLR1C	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 30940	NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp)	AARS2, POLR1C (R592W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 357067	NM_020745.4(AARS2):c.1661G>A (p.Arg554His)	AARS2, POLR1C (R554H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 213956	NM_020745.4(AARS2):c.1649G>C (p.Gly550Ala)	POLR1C, AARS2 (G550A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 213955	NM_020745.4(AARS2):c.1621G>A (p.Glu541Lys)	AARS2, POLR1C (E541K)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +2 more	GConflicting classifications of pathogenicity
Select item 357069	NM_020745.4(AARS2):c.1569C>T (p.Ser523=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	AARS2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 357070	NM_020745.4(AARS2):c.1534G>C (p.Asp512His)	AARS2, POLR1C (D512H)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2656614	NM_020745.4(AARS2):c.1262G>A (p.Arg421Gln)	AARS2, POLR1C (R421Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2656615	NM_020745.4(AARS2):c.1037C>T (p.Pro346Leu)	AARS2, POLR1C (P346L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 932473	NM_020745.4(AARS2):c.959C>T (p.Ala320Val)	AARS2, POLR1C (A320V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 809943	NM_020745.4(AARS2):c.679G>A (p.Asp227Asn)	AARS2, POLR1C (D227N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1186644	NM_020745.4(AARS2):c.673C>T (p.His225Tyr)	AARS2, POLR1C (H225Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1335628	NM_020745.4(AARS2):c.298C>T (p.Arg100Ter)	AARS2, POLR1C (R100*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 213966	NM_020745.4(AARS2):c.221T>A (p.Phe74Tyr)	AARS2, POLR1C (F74Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 21