ClinVar for MedGen (Select 1718781) - ClinVar - NCBI

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

Links from MedGen

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627365	NM_001014437.3(CARS1):c.234_237delinsCAAAGGAGCTTT (p.Ser79fs)	CARS1 (S79fs)	Indel (frameshift variant +3 more)	Microcephaly, developmental delay, and brittle hair syndrome	GPathogenic
Select item 1805715	NM_001014437.3(CARS1):c.1431C>G (p.Phe477Leu)	CARS1 (F302L +4 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly, developmental delay, and brittle hair syndrome	GUncertain significance
Select item 1706461	NM_001014437.3(CARS1):c.1955T>A (p.Phe652Tyr)	CARS1 (F477Y +4 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly, developmental delay, and brittle hair syndrome +1 more	GUncertain significance
Select item 1699428	NM_001014437.3(CARS1):c.1013T>C (p.Ile338Thr)	CARS1 (I163T +4 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly, developmental delay, and brittle hair syndrome	GUncertain significance
Select item 1694463	NM_001014437.3(CARS1):c.451G>A (p.Ala151Thr)	CARS1, CARS1-AS1 +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 1333561	NM_001014437.3(CARS1):c.1391C>T (p.Ser464Leu)	CARS1 (S289L +4 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly, developmental delay, and brittle hair syndrome	GUncertain significance
Select item 1333231	NM_001014437.3(CARS1):c.980A>G (p.Tyr327Cys)	CARS1 (Y152C +4 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly, developmental delay, and brittle hair syndrome +1 more	GUncertain significance
Select item 1321870	NM_001014437.3(CARS1):c.1357C>T (p.Arg453Trp)	CARS1 (R278W +4 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly, developmental delay, and brittle hair syndrome	GUncertain significance
Select item 877079	NM_001014437.3(CARS1):c.1325C>T (p.Ser442Leu)	CARS1 (S359L +4 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly, developmental delay, and brittle hair syndrome	GPathogenic
Select item 877078	NM_001014437.3(CARS1):c.1448T>A (p.Leu483Gln)	CARS1 (L400Q +4 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly, developmental delay, and brittle hair syndrome	GPathogenic
Select item 877077	NM_001014437.3(CARS1):c.1387C>T (p.Gln463Ter)	CARS1 (Q380* +4 more)	Single nucleotide variant (nonsense +1 more)	Microcephaly, developmental delay, and brittle hair syndrome	GPathogenic
Select item 877076	NM_001014437.3(CARS1):c.1271G>A (p.Arg424His)	CARS1 (R341H +4 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly, developmental delay, and brittle hair syndrome	GLikely pathogenic
Select item 877075	NM_001014437.3(CARS1):c.2310dup (p.Ser771fs)	CARS1 (S678fs +4 more)	Duplication (frameshift variant +1 more)	Microcephaly, developmental delay, and brittle hair syndrome	GPathogenic
Select item 776560	NM_001014437.3(CARS1):c.1663G>A (p.Ala555Thr)	CARS1 (A472T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign