Related gene-specific medical variations for Gene (Select 51520) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362703	NM_020117.11(LARS1):c.536A>T (p.His179Leu)	LARS1 (H125L +3 more)	Single nucleotide variant (missense variant)	Infantile liver failure syndrome 1	GUncertain significance
Select item 3362591	NM_020117.11(LARS1):c.3325+1del	LARS1	Deletion (splice donor variant)	Infantile liver failure syndrome 1	GLikely pathogenic
Select item 3361401	NM_020117.11(LARS1):c.593A>C (p.Lys198Thr)	LARS1 (K144T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3117915	NM_020117.11(LARS1):c.47T>C (p.Ile16Thr)	LARS1, LOC129389388 (I16T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117906	NM_020117.11(LARS1):c.31G>A (p.Asp11Asn)	LARS1, LOC129389388 (D11N)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3117882	NM_020117.11(LARS1):c.125+3G>T	LARS1, LOC129389388	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2803844	NM_020117.11(LARS1):c.11_12del (p.Arg4fs)	LARS1, LOC129389388 (R4fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2690634	NM_020117.11(LARS1):c.2781del (p.Lys927fs)	LARS1 (K873fs +3 more)	Deletion (frameshift variant)	Infantile liver failure syndrome 1	GLikely pathogenic
Select item 2552629	NM_020117.11(LARS1):c.103T>A (p.Ser35Thr)	LARS1, LOC129389388 (S35T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1957445	NM_020117.11(LARS1):c.7-13_7-12del	LARS1, LOC129389388	Deletion (intron variant)	not provided	GLikely benign
Select item 1809770	NM_020117.11(LARS1):c.173G>A (p.Arg58His)	LARS1 (R4H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706954	NM_020117.11(LARS1):c.52A>G (p.Lys18Glu)	LARS1, LOC129389388 (K18E)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1218286	NM_020117.11(LARS1):c.2991+320A>G	LARS1, LOC132089170	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207781	NM_020117.11(LARS1):c.2213-113G>A	LARS1, LOC132089171	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670036	NM_020117.11(LARS1):c.2991+239T>C	LARS1, LOC132089170	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670027	NM_020117.11(LARS1):c.2213-163A>G	LARS1, LOC132089171	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670009	NM_020117.11(LARS1):c.1425+312C>G	LARS1, LOC132089172	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 591735	NM_020117.11(LARS1):c.2126A>C (p.His709Pro)	LARS1 (H709P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591320	NM_020117.11(LARS1):c.1588T>C (p.Trp530Arg)	LARS1 (W530R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214579	NM_020117.11(LARS1):c.84_85del (p.Arg28fs)	LARS1, LOC129389388 (R28fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 214565	NM_020117.11(LARS1):c.109T>G (p.Leu37Val)	LARS1, LOC129389388 (L37V)	Single nucleotide variant (missense variant +1 more)	Infantile liver failure syndrome 1 +2 more	GBenign/Likely benign

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Links from Gene

Items: 21