CARS1[gene] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC106799843, LOC106865369 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	LOC106783508, LOC106799843 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	ANO9, AP2A2 +332 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	A-GAMMA3'E, ABCC8 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	BGLT3, A-GAMMA3'E +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 154397	GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1	KRTAP5-6, KRTAP5-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 147689	GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3	ASCL2, C11orf21 +115 more	Copy number gain	See cases	GPathogenic
Select item 147964	GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1	ASCL2, C11orf21 +83 more	Copy number loss	See cases	GUncertain significance
Select item 2608767	NM_001014437.3(CARS1):c.2481T>G (p.Asn827Lys)	CARS1 (N652K +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 2641510	NM_001014437.3(CARS1):c.2241G>A (p.Lys747=)	CARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2475376	NM_001014437.3(CARS1):c.2204A>G (p.Glu735Gly)	CARS1 (E735G +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553138	NM_001014437.3(CARS1):c.2004G>T (p.Met668Ile)	CARS1 (M575I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3055169	NM_001014437.3(CARS1):c.1970C>T (p.Pro657Leu)	CARS1 (P482L +4 more)	Single nucleotide variant (missense variant +1 more)	CARS1-related condition	GLikely benign
Select item 788109	NM_001014437.3(CARS1):c.1962C>T (p.Val654=)	CARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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	GUncertain significance
Select item 2610542	NM_001014437.3(CARS1):c.1891G>A (p.Ala631Thr)	CARS1 (A538T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 779130	NM_001014437.3(CARS1):c.1890C>A (p.Ile630=)	CARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 776559	NM_001014437.3(CARS1):c.1887C>T (p.Asn629=)	CARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2454968	NM_001014437.3(CARS1):c.1852G>A (p.Val618Met)	CARS1 (V443M +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2641511	NM_001014437.3(CARS1):c.1788C>T (p.Thr596=)	CARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2457695	NM_001014437.3(CARS1):c.1772A>G (p.Asn591Ser)	CARS1 (N416S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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
Select item 1298504	NM_001014437.3(CARS1):c.1620G>A (p.Lys540=)	CARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641512	NM_001014437.3(CARS1):c.1611A>G (p.Gln537=)	CARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2518919	NM_001014437.3(CARS1):c.1604C>T (p.Ala535Val)	CARS1 (A360V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2498503	NM_001014437.3(CARS1):c.1590C>T (p.Asn530=)	CARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 717981	NM_001014437.3(CARS1):c.1509C>T (p.Ala503=)	CARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
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 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 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 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 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 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 2479189	NM_001014437.3(CARS1):c.1192C>T (p.Arg398Cys)	CARS1 (R223C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489616	NM_001014437.3(CARS1):c.1100G>A (p.Gly367Glu)	CARS1 (G284E +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553410	NM_001014437.3(CARS1):c.1083C>G (p.Ser361Arg)	CARS1 (S186R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 778039	NM_001014437.3(CARS1):c.1024G>A (p.Gly342Ser)	CARS1 (G259S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
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 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	GUncertain significance
Select item 2603166	NM_001014437.3(CARS1):c.926A>G (p.Asp309Gly)	CARS1 (D239G +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2641513	NM_001014437.3(CARS1):c.891G>A (p.Lys297=)	CARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 731546	NM_001014437.3(CARS1):c.853C>T (p.Leu285Phe)	CARS1 (L202F +1 more)	Single nucleotide variant (missense 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 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)	Inborn genetic diseases	GUncertain significance
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 2588230	NM_001014437.3(CARS1):c.721G>A (p.Ala241Thr)	CARS1, CARS1-AS1 (A148T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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
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)	Inborn genetic diseases	GUncertain significance
Select item 777198	NM_001014437.3(CARS1):c.651+3G>A	CARS1, CARS1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2552223	NM_001014437.3(CARS1):c.641C>A (p.Ala214Asp)	CARS1-AS1, CARS1 (A121D +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
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 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 condition	GLikely benign
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, 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 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 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 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)	Inborn genetic diseases	GUncertain significance
Select item 2533126	NM_001014437.3(CARS1):c.332G>T (p.Arg111Ile)	CARS1 (R41I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3035878	NM_001014437.3(CARS1):c.288T>G (p.Arg96=)	CARS1	Single nucleotide variant (synonymous variant +2 more)	CARS1-related condition	GLikely benign
Select item 2614665	NM_001014437.3(CARS1):c.286C>T (p.Arg96Cys)	CARS1 (R13C +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 776563	NM_001014437.3(CARS1):c.275-8C>T	CARS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 2492996	NM_001014437.3(CARS1):c.194A>C (p.His65Pro)	CARS1 (H65P)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3030390	NM_001014437.3(CARS1):c.-1C>T	CARS1	Single nucleotide variant (5 prime UTR variant +1 more)	CARS1-related condition	GLikely benign
Select item 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	ANO9, AP2A2 +89 more	Copy number gain	not provided	GPathogenic
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	C11orf42, MRGPRG +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2425075	NC_000011.9:g.(?_721044)_(3988932_?)dup	AP2A2, ART1 +65 more	Duplication	not provided	GUncertain significance
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	OR10A6, RRM1 +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ABCC8, ADM +308 more	Copy number gain	See cases	GPathogenic
Select item 1339886	GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	ANO9, AP2A2 +137 more	Copy number gain	not provided	Gnot provided
Select item 1017523	NC_000011.9:g.(?_298501)_(4113028_?)dup	PTDSS2, RASSF7 +89 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 983191	GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3	ANO9, AP2A2 +109 more	Copy number gain	See cases	GPathogenic
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	IFITM3, OR52D1 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 815398	GRCh37/hg19 11p15.5-15.4(chr11:2683937-3207439)x3	CARS1, CDKN1C +8 more	Copy number gain	not provided	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	ABCC8, ADM +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	OR2AG2, OR2D2 +222 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ABCC8, ABTB2 +364 more	Copy number gain	See cases	GPathogenic
Select item 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	ART1, ART5 +132 more	Copy number gain	See cases	GPathogenic

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Items: 90