Related gene-specific medical variations for Gene (Select 79587) - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2898456	NM_024537.4(CARS2):c.60C>G (p.Gly20=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2814938	NM_024537.4(CARS2):c.108G>A (p.Gly36=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2763863	NM_024537.4(CARS2):c.66G>C (p.Gly22=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2761733	NM_024537.4(CARS2):c.30G>C (p.Leu10=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2759546	NM_024537.4(CARS2):c.55C>T (p.Leu19=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2688719	NM_024537.4(CARS2):c.204del (p.His69fs)	CARS2 (H69fs)	Deletion (frameshift variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2439756	NM_024537.4(CARS2):c.1417-2A>C	CARS2	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2317618	NM_024537.4(CARS2):c.94C>T (p.Arg32Trp)	CARS2, LOC130010127 (R32W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2202386	NM_024537.4(CARS2):c.96G>A (p.Arg32=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2163616	NM_024537.4(CARS2):c.19G>A (p.Gly7Ser)	CARS2, LOC130010127 (G7S)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2123011	NM_024537.4(CARS2):c.160G>T (p.Val54Leu)	CARS2, LOC130010127 (V54L)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2119635	NM_024537.4(CARS2):c.108G>C (p.Gly36=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2117551	NM_024537.4(CARS2):c.24_35del (p.Gly9_Pro12del)	CARS2, LOC130010127	Deletion (inframe_deletion +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2102167	NM_024537.4(CARS2):c.122C>A (p.Ala41Asp)	CARS2, LOC130010127 (A41D)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2099929	NM_024537.4(CARS2):c.164A>G (p.Tyr55Cys)	CARS2, LOC130010127 (Y55C)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2091476	NM_024537.4(CARS2):c.68_71dup (p.His27fs)	CARS2, LOC130010127 (H27fs)	Microsatellite (frameshift variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2087652	NM_024537.4(CARS2):c.133C>A (p.Pro45Thr)	CARS2, LOC130010127 (P45T)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2021888	NM_024537.4(CARS2):c.53C>T (p.Ala18Val)	CARS2, LOC130010127 (A18V)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 1987692	NM_024537.4(CARS2):c.107G>T (p.Gly36Val)	CARS2, LOC130010127 (G36V)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 1905583	NM_024537.4(CARS2):c.37C>T (p.Pro13Ser)	CARS2, LOC130010127 (P13S)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 1715415	NM_024537.4(CARS2):c.31G>T (p.Gly11Cys)	CARS2, LOC130010127 (G11C)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 1714888	NM_024537.4(CARS2):c.143G>T (p.Arg48Leu)	CARS2, LOC130010127 (R48L)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 1620402	NM_024537.4(CARS2):c.144G>A (p.Arg48=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 1602886	NM_024537.4(CARS2):c.57G>A (p.Leu19=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 1594173	NM_024537.4(CARS2):c.21C>T (p.Gly7=)	LOC130010127, CARS2	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 1549858	NM_024537.4(CARS2):c.127C>T (p.Leu43=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 1507287	NM_024537.4(CARS2):c.119G>C (p.Arg40Pro)	CARS2, LOC130010127 (R40P)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 1501723	NM_024537.4(CARS2):c.12_33dup (p.Pro12fs)	CARS2, LOC130010127 (P12fs)	Duplication (frameshift variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 1492907	NM_024537.4(CARS2):c.115G>T (p.Gly39Trp)	CARS2, LOC130010127 (G39W)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 1480381	NM_024537.4(CARS2):c.170G>C (p.Ser57Thr)	CARS2, LOC130010127 (S57T)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 1473482	NM_024537.4(CARS2):c.98C>T (p.Ala33Val)	CARS2, LOC130010127 (A33V)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 1431310	NM_024537.4(CARS2):c.27C>T (p.Gly9=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 1430130	NM_024537.4(CARS2):c.107G>C (p.Gly36Ala)	CARS2, LOC130010127 (G36A)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 1417510	NM_024537.4(CARS2):c.3G>T (p.Met1Ile)	CARS2, LOC130010127 (M1I)	Single nucleotide variant (missense variant +3 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 1409226	NM_024537.4(CARS2):c.29T>C (p.Leu10Pro)	CARS2, LOC130010127 (L10P)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 1357117	NM_024537.4(CARS2):c.112C>T (p.Arg38Cys)	CARS2, LOC130010127 (R38C)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 1271279	NM_001352252.2(CARS2):c.-776+17C>T	LOC130010127, CARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239228	NM_001352252.2(CARS2):c.-776+13C>T	CARS2, LOC130010127	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212666	NM_024537.4(CARS2):c.125G>C (p.Trp42Ser)	CARS2, LOC130010127 (W42S)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27 +1 more	GConflicting classifications of pathogenicity
Select item 1206626	NM_001352252.2(CARS2):c.-776+130G>A	CARS2, LOC130010127	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180292	NM_001352252.2(CARS2):c.-776+135C>T	CARS2, LOC130010127	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1176979	NM_024537.4(CARS2):c.123C>T (p.Ala41=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1144146	NM_024537.4(CARS2):c.141C>T (p.Gly47=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 1123466	NM_024537.4(CARS2):c.117G>T (p.Gly39=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 1117453	NM_024537.4(CARS2):c.99G>T (p.Ala33=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 1109554	NM_024537.4(CARS2):c.117G>A (p.Gly39=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 1100667	NM_024537.4(CARS2):c.33C>T (p.Gly11=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 1058293	NM_024537.4(CARS2):c.48G>A (p.Gln16=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 1043837	NM_024537.4(CARS2):c.126G>C (p.Trp42Cys)	CARS2, LOC130010127 (W42C)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 1030850	NM_024537.4(CARS2):c.9G>T (p.Arg3Ser)	CARS2, LOC130010127 (R3S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1024556	NM_024537.4(CARS2):c.10A>G (p.Thr4Ala)	CARS2, LOC130010127 (T4A)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 1010736	NM_024537.4(CARS2):c.73G>A (p.Gly25Arg)	CARS2, LOC130010127 (G25R)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 1009930	NM_024537.4(CARS2):c.149C>T (p.Thr50Met)	CARS2, LOC130010127 (T50M)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 1001034	NM_024537.4(CARS2):c.84G>T (p.Trp28Cys)	CARS2, LOC130010127 (W28C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 972919	NM_024537.4(CARS2):c.1426G>T (p.Gly476Ter)	CARS2 (G476* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined oxidative phosphorylation defect type 27	GLikely pathogenic
Select item 963749	NM_024537.4(CARS2):c.5T>G (p.Leu2Trp)	CARS2, LOC130010127 (L2W)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 941196	NM_024537.4(CARS2):c.1A>G (p.Met1Val)	CARS2, LOC130010127 (M1V)	Single nucleotide variant (missense variant +3 more)	Combined oxidative phosphorylation defect type 27 +1 more	GUncertain significance
Select item 854861	NM_024537.4(CARS2):c.2T>G (p.Met1Arg)	CARS2, LOC130010127 (M1R)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GUncertain significance
Select item 853912	NM_024537.4(CARS2):c.71C>T (p.Ala24Val)	CARS2, LOC130010127 (A24V)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 852103	NM_024537.4(CARS2):c.38C>T (p.Pro13Leu)	CARS2, LOC130010127 (P13L)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27 +1 more	GUncertain significance
Select item 842223	NM_024537.4(CARS2):c.37C>G (p.Pro13Ala)	CARS2, LOC130010127 (P13A)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 817082	NM_024537.4(CARS2):c.38del (p.Pro13fs)	CARS2, LOC130010127 (P13fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 813655	NM_024537.4(CARS2):c.383G>T (p.Arg128Ile)	CARS2 (R128I)	Single nucleotide variant (5 prime UTR variant +2 more)	Microcephaly	GUncertain significance
Select item 762459	NM_024537.4(CARS2):c.118C>A (p.Arg40=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 748720	NM_024537.4(CARS2):c.15G>C (p.Thr5=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 732470	NM_024537.4(CARS2):c.136A>G (p.Thr46Ala)	CARS2, LOC130010127 (T46A)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27 +2 more	GConflicting classifications of pathogenicity
Select item 659918	NM_024537.4(CARS2):c.10A>T (p.Thr4Ser)	CARS2, LOC130010127 (T4S)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 656714	NM_024537.4(CARS2):c.1A>T (p.Met1Leu)	CARS2, LOC130010127 (M1L)	Single nucleotide variant (missense variant +3 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 643021	NM_024537.4(CARS2):c.25G>C (p.Gly9Arg)	CARS2, LOC130010127 (G9R)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 580177	NM_024537.4(CARS2):c.155T>G (p.Val52Gly)	CARS2, LOC130010127 (V52G)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 579925	NM_024537.4(CARS2):c.94C>G (p.Arg32Gly)	CARS2, LOC130010127 (R32G)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 576870	NM_024537.4(CARS2):c.98C>G (p.Ala33Gly)	CARS2, LOC130010127 (A33G)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 508519	NM_024537.4(CARS2):c.-7C>A	CARS2, LOC130010127	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 475635	NM_024537.4(CARS2):c.85C>T (p.Pro29Ser)	CARS2, LOC130010127 (P29S)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 475633	NM_024537.4(CARS2):c.64G>A (p.Gly22Arg)	CARS2, LOC130010127 (G22R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 475630	NM_024537.4(CARS2):c.42G>T (p.Leu14=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 475629	NM_024537.4(CARS2):c.33C>A (p.Gly11=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 475627	NM_024537.4(CARS2):c.24A>T (p.Pro8=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 475620	NM_024537.4(CARS2):c.150G>T (p.Thr50=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 475617	NM_024537.4(CARS2):c.122C>T (p.Ala41Val)	CARS2, LOC130010127 (A41V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 475611	NM_024537.4(CARS2):c.101C>G (p.Ala34Gly)	CARS2, LOC130010127 (A34G)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27 +1 more	GUncertain significance
Select item 391370	NM_024537.4(CARS2):c.-15G>C	CARS2, LOC130010127	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 387061	NM_024537.4(CARS2):c.-23A>G	CARS2, LOC130010127	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 377623	NM_024537.3(CARS2):c.-48C>T	CARS2, LOC130010127	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 265071	NM_024537.4(CARS2):c.2T>C (p.Met1Thr)	CARS2, LOC130010127 (M1T)	Single nucleotide variant (missense variant +3 more)	Combined oxidative phosphorylation defect type 27 +1 more	GConflicting classifications of pathogenicity

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Items: 85