ClinVar for MedGen (Select 1718781) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 14

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26273651.	NM_001014437.3(CARS1):c.234_237delinsCAAAGGAGCTTT (p.Ser79fs) GRCh37: Chr11:3069020-3069023 GRCh38: Chr11:3047790-3047793	CARS1	S79fs	Microcephaly, developmental delay, and brittle hair syndrome	Pathogenic (Aug 18, 2023)	criteria provided, single submitter
Select item 18057152.	NM_001014437.3(CARS1):c.1431C>G (p.Phe477Leu) GRCh37: Chr11:3039944 GRCh38: Chr11:3018714	CARS1	F302L, F384L, F394L, F407L, F477L	Microcephaly, developmental delay, and brittle hair syndrome	Uncertain significance (Jul 2, 2020)	criteria provided, single submitter
Select item 17064613.	NM_001014437.3(CARS1):c.1955T>A (p.Phe652Tyr) GRCh37: Chr11:3037042 GRCh38: Chr11:3015812	CARS1	F477Y, F559Y, F569Y, F582Y, F652Y	Microcephaly, developmental delay, and brittle hair syndrome	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 16994284.	NM_001014437.3(CARS1):c.1013T>C (p.Ile338Thr) GRCh37: Chr11:3050244 GRCh38: Chr11:3029014	CARS1	I163T, I245T, I255T, I268T, I338T	Microcephaly, developmental delay, and brittle hair syndrome	Uncertain significance (Jul 2, 2020)	criteria provided, single submitter
Select item 16944635.	NM_001014437.3(CARS1):c.451G>A (p.Ala151Thr) GRCh37: Chr11:3062130 GRCh38: Chr11:3040900	CARS1, CARS1-AS1, LOC126861115	A151T, A58T, A68T, A81T	Microcephaly, developmental delay, and brittle hair syndrome	Likely pathogenic	criteria provided, single submitter
Select item 13335616.	NM_001014437.3(CARS1):c.1391C>T (p.Ser464Leu) GRCh37: Chr11:3040373 GRCh38: Chr11:3019143	CARS1	S289L, S371L, S381L, S394L, S464L	Microcephaly, developmental delay, and brittle hair syndrome	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 13332317.	NM_001014437.3(CARS1):c.980A>G (p.Tyr327Cys) GRCh37: Chr11:3050277 GRCh38: Chr11:3029047	CARS1	Y152C, Y234C, Y244C, Y257C, Y327C	Microcephaly, developmental delay, and brittle hair syndrome	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 13218708.	NM_001014437.3(CARS1):c.1357C>T (p.Arg453Trp) GRCh37: Chr11:3040407 GRCh38: Chr11:3019177	CARS1	R278W, R360W, R370W, R383W, R453W	Microcephaly, developmental delay, and brittle hair syndrome	Uncertain significance (Oct 21, 2021)	criteria provided, single submitter
Select item 8770799.	NM_001014437.3(CARS1):c.1325C>T (p.Ser442Leu) GRCh37: Chr11:3040439 GRCh38: Chr11:3019209	CARS1	S359L, S349L, S442L, S372L, S267L	Microcephaly, developmental delay, and brittle hair syndrome	Pathogenic (Aug 12, 2021)	no assertion criteria provided
Select item 87707810.	NM_001014437.3(CARS1):c.1448T>A (p.Leu483Gln) GRCh37: Chr11:3039927 GRCh38: Chr11:3018697	CARS1	L400Q, L308Q, L413Q, L483Q, L390Q	Microcephaly, developmental delay, and brittle hair syndrome	Pathogenic (Aug 12, 2021)	no assertion criteria provided
Select item 87707711.	NM_001014437.3(CARS1):c.1387C>T (p.Gln463Ter) GRCh37: Chr11:3040377 GRCh38: Chr11:3019147	CARS1	Q380, Q463, Q288, Q393, Q370*	Microcephaly, developmental delay, and brittle hair syndrome	Pathogenic (Aug 12, 2021)	no assertion criteria provided
Select item 87707612.	NM_001014437.3(CARS1):c.1271G>A (p.Arg424His) GRCh37: Chr11:3040493 GRCh38: Chr11:3019263	CARS1	R341H, R354H, R331H, R424H, R249H	Microcephaly, developmental delay, and brittle hair syndrome	Likely pathogenic (Oct 21, 2021)	criteria provided, single submitter
Select item 87707513.	NM_001014437.3(CARS1):c.2310dup (p.Ser771fs) GRCh37: Chr11:3023250-3023251 GRCh38: Chr11:3002020-3002021	CARS1	S678fs, S688fs, S701fs, S771fs, S596fs	Microcephaly, developmental delay, and brittle hair syndrome	Pathogenic (Aug 12, 2021)	no assertion criteria provided
Select item 77656014.	NM_001014437.3(CARS1):c.1663G>A (p.Ala555Thr) GRCh37: Chr11:3039151 GRCh38: Chr11:3017921	CARS1	A472T, A555T	not provided, Microcephaly, developmental delay, and brittle hair syndrome	Benign/Likely benign (May 17, 2022)	criteria provided, multiple submitters, no conflicts