833[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	ANO9, AP2A2 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +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	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 154397	GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1	ASCL2, BRSK2 +129 more	Copy number loss	See cases	GPathogenic
Select item 147689	GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3	C11orf21, CARS1 +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)	not specified	GUncertain significance
Select item 3137447	NM_001014437.3(CARS1):c.2449C>T (p.Leu817Phe)	CARS1 (L734F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137444	NM_001014437.3(CARS1):c.2402A>G (p.Lys801Arg)	CARS1 (K626R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137442	NM_001014437.3(CARS1):c.2342A>G (p.Tyr781Cys)	CARS1 (Y606C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137441	NM_001014437.3(CARS1):c.2335G>A (p.Asp779Asn)	CARS1 (D696N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 3137440	NM_001014437.3(CARS1):c.2258G>A (p.Arg753Gln)	CARS1 (R660Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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)	not specified	GUncertain significance
Select item 3137439	NM_001014437.3(CARS1):c.2146G>A (p.Glu716Lys)	CARS1 (E541K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137438	NM_001014437.3(CARS1):c.2092G>A (p.Asp698Asn)	CARS1 (D523N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137437	NM_001014437.3(CARS1):c.2084A>G (p.Gln695Arg)	CARS1 (Q602R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263353	NM_001014437.3(CARS1):c.2042T>C (p.Val681Ala)	CARS1 (V681A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3137436	NM_001014437.3(CARS1):c.1997C>A (p.Thr666Lys)	CARS1 (T491K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 disorder	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 3137435	NM_001014437.3(CARS1):c.1958C>T (p.Pro653Leu)	CARS1 (P653L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 3137434	NM_001014437.3(CARS1):c.1930G>A (p.Val644Ile)	CARS1 (V469I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2610542	NM_001014437.3(CARS1):c.1891G>A (p.Ala631Thr)	CARS1 (A538T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137433	NM_001014437.3(CARS1):c.1890C>G (p.Ile630Met)	CARS1 (I630M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GLikely benign
Select item 3137432	NM_001014437.3(CARS1):c.1844G>A (p.Arg615Gln)	CARS1 (R522Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137431	NM_001014437.3(CARS1):c.1843C>T (p.Arg615Trp)	CARS1 (R545W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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)	not specified	GUncertain significance
Select item 3137430	NM_001014437.3(CARS1):c.1696T>C (p.Trp566Arg)	CARS1 (W473R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	Microcephaly, developmental delay, and brittle hair syndrome +1 more	GBenign/Likely benign
Select item 3137429	NM_001014437.3(CARS1):c.1655T>C (p.Ile552Thr)	CARS1 (I552T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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)	not specified	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 3137428	NM_001014437.3(CARS1):c.1556A>G (p.His519Arg)	CARS1 (H426R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137427	NM_001014437.3(CARS1):c.1528C>T (p.Arg510Trp)	CARS1 (R335W +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
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 3137426	NM_001014437.3(CARS1):c.1495A>G (p.Thr499Ala)	CARS1 (T499A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3351183	NM_001014437.3(CARS1):c.1410C>T (p.Asn470=)	CARS1	Single nucleotide variant (synonymous variant +1 more)	CARS1-related disorder	GLikely benign
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 3137425	NM_001014437.3(CARS1):c.1384G>T (p.Ala462Ser)	CARS1 (A462S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 3137424	NM_001014437.3(CARS1):c.1274C>T (p.Pro425Leu)	CARS1 (P332L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3137423	NM_001014437.3(CARS1):c.1230G>T (p.Lys410Asn)	CARS1 (K317N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137422	NM_001014437.3(CARS1):c.1201A>T (p.Asn401Tyr)	CARS1 (N318Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479189	NM_001014437.3(CARS1):c.1192C>T (p.Arg398Cys)	CARS1 (R223C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137421	NM_001014437.3(CARS1):c.1178G>A (p.Arg393His)	CARS1 (R218H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137420	NM_001014437.3(CARS1):c.1177C>T (p.Arg393Cys)	CARS1 (R218C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137418	NM_001014437.3(CARS1):c.1111C>T (p.Pro371Ser)	CARS1 (P196S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3137417	NM_001014437.3(CARS1):c.1084G>A (p.Glu362Lys)	CARS1 (E279K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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 3137463	NM_001014437.3(CARS1):c.985C>T (p.Pro329Ser)	CARS1 (P154S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 2603166	NM_001014437.3(CARS1):c.926A>G (p.Asp309Gly)	CARS1 (D239G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137462	NM_001014437.3(CARS1):c.911G>C (p.Gly304Ala)	CARS1 (G129A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 3137461	NM_001014437.3(CARS1):c.869C>A (p.Thr290Asn)	CARS1 (T290N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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)	not specified	GUncertain significance
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 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 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 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 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 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 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 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 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 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)	not specified	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 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 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 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 disorder	GLikely benign
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

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