Related gene-specific medical variations for Gene (Select 1615) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3080100	NM_001349.4(DARS1):c.11C>T (p.Ala4Val)	DARS1, DARS1-AS1 +1 more (A4V)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3068269	NM_001349.4(DARS1):c.564+2264G>A	DARS1	Single nucleotide variant (intron variant)	Hypomyelination with brain stem and spinal cord involvement and leg spasticity	GUncertain significance
Select item 2979616	NM_001349.4(DARS1):c.66+18C>T	DARS1, DARS1-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2440706	NM_001349.4(DARS1):c.1288C>T (p.Gln430Ter)	DARS1 (Q330* +1 more)	Single nucleotide variant (nonsense)	Hypomyelination with brain stem and spinal cord involvement and leg spasticity	GUncertain significance
Select item 1912555	NM_001349.4(DARS1):c.39G>A (p.Lys13=)	DARS1, DARS1-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1696555	NM_001349.4(DARS1):c.403G>A (p.Val135Ile)	DARS1 (V135I +1 more)	Single nucleotide variant (missense variant)	Hypomyelination with brain stem and spinal cord involvement and leg spasticity	GUncertain significance
Select item 1696554	NM_001349.4(DARS1):c.1231-455A>G	DARS1	Single nucleotide variant (intron variant)	Hypomyelination with brain stem and spinal cord involvement and leg spasticity	GUncertain significance
Select item 1311069	NM_001349.4(DARS1):c.32A>G (p.Gln11Arg)	DARS1, DARS1-AS1 +1 more (Q11R)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1258838	NM_001349.4(DARS1):c.66+34A>G	DARS1, DARS1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1251606	NM_001349.4(DARS1):c.-100T>C	DARS1, DARS1-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1181810	NM_001349.4(DARS1):c.-105C>G	DARS1, DARS1-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 808803	NM_001349.4(DARS1):c.10GCCAGC[3] (p.4AS[3])	DARS1, DARS1-AS1 +1 more	Microsatellite (non-coding transcript variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 445757	NM_001349.4(DARS1):c.301A>T (p.Met101Leu)	DARS1 (M101L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 381868	NM_001349.4(DARS1):c.-42C>G	DARS1, DARS1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign
Select item 143190	NM_001349.4(DARS1):c.839A>T (p.His280Leu)	DARS1 (H280L +1 more)	Single nucleotide variant (missense variant)	Hypomyelination with brain stem and spinal cord involvement and leg spasticity	GPathogenic