Related gene-specific medical variations for Gene (Select 100852407) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263358	NM_001014437.3(CARS1):c.773C>A (p.Thr258Lys)	CARS1, CARS1-AS1 (T165K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263357	NM_001014437.3(CARS1):c.724G>A (p.Val242Met)	CARS1, CARS1-AS1 (V242M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263351	NM_001014437.3(CARS1):c.688G>A (p.Asp230Asn)	CARS1, CARS1-AS1 (D147N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263350	NM_001014437.3(CARS1):c.433G>A (p.Ala145Thr)	CARS1, CARS1-AS1 +1 more (A145T +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3137460	NM_001014437.3(CARS1):c.773C>G (p.Thr258Arg)	CARS1, CARS1-AS1 (T175R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137458	NM_001014437.3(CARS1):c.743C>T (p.Pro248Leu)	CARS1, CARS1-AS1 (P178L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137457	NM_001014437.3(CARS1):c.709C>T (p.Arg237Trp)	CARS1, CARS1-AS1 (R167W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137456	NM_001014437.3(CARS1):c.706G>A (p.Glu236Lys)	CARS1, CARS1-AS1 (E61K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137455	NM_001014437.3(CARS1):c.643G>A (p.Ala215Thr)	CARS1, CARS1-AS1 (A215T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137454	NM_001014437.3(CARS1):c.560A>G (p.Lys187Arg)	CARS1, CARS1-AS1 (K94R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3137453	NM_001014437.3(CARS1):c.526A>G (p.Met176Val)	CARS1, CARS1-AS1 (M176V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137452	NM_001014437.3(CARS1):c.405G>T (p.Trp135Cys)	CARS1, CARS1-AS1 +1 more (W135C +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3037395	NM_001014437.3(CARS1):c.568C>T (p.Arg190Trp)	CARS1, CARS1-AS1 (R107W +4 more)	Single nucleotide variant (missense variant +1 more)	CARS1-related disorder	GLikely benign
Select item 3026488	NM_001014437.3(CARS1):c.402G>A (p.Thr134=)	CARS1, CARS1-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2641514	NM_001014437.3(CARS1):c.768A>G (p.Arg256=)	CARS1, CARS1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2611608	NM_001014437.3(CARS1):c.680C>T (p.Thr227Met)	CARS1, CARS1-AS1 (T52M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606698	NM_001014437.3(CARS1):c.845A>C (p.Asp282Ala)	CARS1, CARS1-AS1 (D189A +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2588230	NM_001014437.3(CARS1):c.721G>A (p.Ala241Thr)	CARS1, CARS1-AS1 (A148T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552223	NM_001014437.3(CARS1):c.641C>A (p.Ala214Asp)	CARS1, CARS1-AS1 (A121D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546994	NM_001014437.3(CARS1):c.633T>A (p.Asp211Glu)	CARS1, CARS1-AS1 (D118E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459168	NM_001014437.3(CARS1):c.401C>T (p.Thr134Met)	CARS1, CARS1-AS1 +1 more (T134M +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 1694630	NM_001014437.3(CARS1):c.471T>C (p.Phe157=)	CARS1, CARS1-AS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1694463	NM_001014437.3(CARS1):c.451G>A (p.Ala151Thr)	CARS1-AS1, LOC126861115 +1 more (A151T +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Microcephaly, developmental delay, and brittle hair syndrome	GLikely pathogenic
Select item 1176891	NM_001014437.3(CARS1):c.450C>T (p.His150=)	CARS1, CARS1-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 777198	NM_001014437.3(CARS1):c.651+3G>A	CARS1, CARS1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 776562	NM_001014437.3(CARS1):c.585C>T (p.Phe195=)	CARS1, CARS1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 776561	NM_001014437.3(CARS1):c.848C>G (p.Ser283Cys)	CARS1, CARS1-AS1 (S200C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 775293	NM_001014437.3(CARS1):c.721G>T (p.Ala241Ser)	CARS1, CARS1-AS1 (A158S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 711542	NM_001014437.3(CARS1):c.687C>T (p.Pro229=)	CARS1, CARS1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 29