ClinVar for MedGen (Select 934728) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2054175	NM_015340.4(LARS2):c.1922G>A (p.Ser641Asn)	LARS2 (S641N)	Single nucleotide variant (missense variant)	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome +3 more	GUncertain significance
Select item 1384523	NM_015340.4(LARS2):c.2540A>G (p.Asn847Ser)	LARS2 (N847S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1252055	NM_015340.4(LARS2):c.2134C>T (p.Pro712Ser)	LARS2 (P712S)	Single nucleotide variant (missense variant)	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome	GLikely pathogenic
Select item 1031906	NM_015340.4(LARS2):c.944C>T (p.Ser315Leu)	LARS2 (S315L)	Single nucleotide variant (missense variant)	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1031905	NM_015340.4(LARS2):c.317C>T (p.Thr106Ile)	LARS2 (T106I)	Single nucleotide variant (missense variant)	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome	GUncertain significance
Select item 869196	NM_015340.4(LARS2):c.1237G>A (p.Glu413Lys)	LARS2, LARS2-AS1 (E413K)	Single nucleotide variant (missense variant)	Perrault syndrome 4 +2 more	GUncertain significance
Select item 691524	NM_015340.4(LARS2):c.1607C>T (p.Pro536Leu)	LARS2, LARS2-AS1 (P536L)	Single nucleotide variant (missense variant)	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome +1 more	GLikely pathogenic
Select item 691523	NM_015340.4(LARS2):c.440A>C (p.Gln147Pro)	LARS2 (Q147P)	Single nucleotide variant (missense variant)	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome +1 more	GLikely pathogenic
Select item 691522	NM_015340.4(LARS2):c.2099C>T (p.Thr700Ile)	LARS2 (T700I)	Single nucleotide variant (missense variant)	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome	GLikely pathogenic
Select item 691521	NM_015340.4(LARS2):c.388G>A (p.Ala130Thr)	LARS2 (A130T)	Single nucleotide variant (missense variant)	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome	GLikely pathogenic
Select item 691520	NM_015340.4(LARS2):c.1313A>G (p.Asp438Gly)	LARS2, LARS2-AS1 (D438G)	Single nucleotide variant (missense variant)	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome	GLikely pathogenic
Select item 691519	NM_015340.4(LARS2):c.683G>A (p.Arg228His)	LARS2 (R228H)	Single nucleotide variant (missense variant)	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome +1 more	GLikely pathogenic
Select item 667121	NM_015340.4(LARS2):c.1178C>A (p.Ala393Asp)	LARS2, LARS2-AS1 (A393D)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 504796	NM_015340.4(LARS2):c.1814G>A (p.Arg605His)	LARS2 (R605H)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 245613	NM_015340.4(LARS2):c.1289C>T (p.Ala430Val)	LARS2, LARS2-AS1 (A430V)	Single nucleotide variant (missense variant)	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome	GPathogenic
Select item 226704	NM_015340.4(LARS2):c.2358A>G (p.Val786=)	LARS2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 226700	NM_015340.4(LARS2):c.2169T>C (p.Ala723=)	LARS2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 226698	NM_015340.4(LARS2):c.1983G>A (p.Thr661=)	LARS2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 226697	NM_015340.4(LARS2):c.1760+12T>C	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 226693	NM_015340.4(LARS2):c.1455G>A (p.Ala485=)	LARS2-AS1, LARS2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 226691	NM_015340.4(LARS2):c.1053T>C (p.Leu351=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 191173	NM_015340.4(LARS2):c.457A>C (p.Asn153His)	LARS2 (N153H)	Single nucleotide variant (missense variant)	Perrault syndrome 4 +2 more	GPathogenic/Likely pathogenic
Select item 55871	NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn)	LARS2, LARS2-AS1 (T522N)	Single nucleotide variant (missense variant)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic

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Items: 23