C3AR1[gene] - ClinVar

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

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 150653	GRCh38/hg38 12p13.31(chr12:7850905-8455624)x1	C3AR1, CLEC4A +39 more	Copy number loss	See cases	GLikely benign
Select item 2635463	NM_004054.4(C3AR1):c.1230dup (p.Lys411fs)	C3AR1 (K411fs)	Duplication (frameshift variant)	C3AR1-related disorder	GUncertain significance
Select item 3046930	NM_004054.4(C3AR1):c.1227G>A (p.Leu409=)	C3AR1	Single nucleotide variant (synonymous variant)	C3AR1-related disorder	GLikely benign
Select item 2293023	NM_004054.4(C3AR1):c.1177T>C (p.Tyr393His)	C3AR1 (Y393H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2632033	NM_004054.4(C3AR1):c.1167C>G (p.Cys389Trp)	C3AR1 (C389W)	Single nucleotide variant (missense variant)	C3AR1-related disorder	GUncertain significance
Select item 161619	NM_004054.4(C3AR1):c.1148T>C (p.Val383Ala)	C3AR1 (V383A)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 3135990	NM_004054.4(C3AR1):c.1119C>G (p.Ser373Arg)	C3AR1 (S373R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135998	NM_004054.4(C3AR1):c.995C>T (p.Pro332Leu)	C3AR1 (P332L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542051	NM_004054.4(C3AR1):c.973G>A (p.Asp325Asn)	C3AR1 (D325N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548252	NM_004054.4(C3AR1):c.956A>G (p.Asn319Ser)	C3AR1 (N319S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2635880	NM_004054.4(C3AR1):c.919G>A (p.Glu307Lys)	C3AR1 (E307K)	Single nucleotide variant (missense variant)	C3AR1-related disorder	GUncertain significance
Select item 2494149	NM_004054.4(C3AR1):c.863C>A (p.Ala288Asp)	C3AR1 (A288D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618346	NM_004054.4(C3AR1):c.800C>A (p.Pro267His)	C3AR1 (P267H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215744	NM_004054.4(C3AR1):c.790G>A (p.Val264Met)	C3AR1 (V264M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496499	NM_004054.4(C3AR1):c.789T>G (p.Asp263Glu)	C3AR1 (D263E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222847	NM_004054.4(C3AR1):c.719A>G (p.Asp240Gly)	C3AR1 (D240G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394294	NM_004054.4(C3AR1):c.701T>G (p.Phe234Cys)	C3AR1 (F234C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135996	NM_004054.4(C3AR1):c.695A>G (p.Gln232Arg)	C3AR1 (Q232R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324032	NM_004054.4(C3AR1):c.691C>A (p.Pro231Thr)	C3AR1 (P231T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286476	NM_004054.4(C3AR1):c.587C>T (p.Ser196Phe)	C3AR1 (S196F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325623	NM_004054.4(C3AR1):c.575T>C (p.Leu192Pro)	C3AR1 (L192P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135995	NM_004054.4(C3AR1):c.568G>A (p.Asp190Asn)	C3AR1 (D190N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2632740	NM_004054.4(C3AR1):c.563A>G (p.Tyr188Cys)	C3AR1 (Y188C)	Single nucleotide variant (missense variant)	C3AR1-related disorder	GUncertain significance
Select item 2636028	NM_004054.4(C3AR1):c.561T>G (p.Phe187Leu)	C3AR1 (F187L)	Single nucleotide variant (missense variant)	C3AR1-related disorder	GUncertain significance
Select item 2535519	NM_004054.4(C3AR1):c.560T>C (p.Phe187Ser)	C3AR1 (F187S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282546	NM_004054.4(C3AR1):c.549T>G (p.Asp183Glu)	C3AR1 (D183E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135994	NM_004054.4(C3AR1):c.514T>C (p.Cys172Arg)	C3AR1 (C172R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135993	NM_004054.4(C3AR1):c.481C>T (p.Arg161Trp)	C3AR1 (R161W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558178	NM_004054.4(C3AR1):c.449C>A (p.Ala150Asp)	C3AR1 (A150D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246883	NM_004054.4(C3AR1):c.433T>C (p.Cys145Arg)	C3AR1 (C145R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730040	NM_004054.4(C3AR1):c.407T>C (p.Val136Ala)	C3AR1 (V136A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3135992	NM_004054.4(C3AR1):c.401G>A (p.Arg134His)	C3AR1 (R134H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 222958	NM_004054.4(C3AR1):c.355_356dup (p.Asp119fs)	C3AR1 (D119fs)	Duplication (frameshift variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GLikely pathogenic
Select item 3352354	NM_004054.4(C3AR1):c.355dup (p.Asp119fs)	C3AR1 (D119fs)	Duplication (frameshift variant)	C3AR1-related disorder	GUncertain significance
Select item 3135991	NM_004054.4(C3AR1):c.331T>C (p.Phe111Leu)	C3AR1 (F111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320059	NM_004054.4(C3AR1):c.271G>C (p.Gly91Arg)	C3AR1 (G91R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316412	NM_004054.4(C3AR1):c.246G>T (p.Leu82Phe)	C3AR1 (L82F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054881	NM_004054.4(C3AR1):c.226C>G (p.Pro76Ala)	C3AR1 (P76A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714016	NM_004054.4(C3AR1):c.140T>G (p.Val47Gly)	C3AR1 (V47G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2377249	NM_004054.4(C3AR1):c.139G>C (p.Val47Leu)	C3AR1 (V47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727477	NM_004054.4(C3AR1):c.126G>A (p.Gly42=)	C3AR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2367558	NM_004054.4(C3AR1):c.115C>A (p.Pro39Thr)	C3AR1 (P39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634624	NM_004054.4(C3AR1):c.-8G>A	C3AR1	Single nucleotide variant (5 prime UTR variant +1 more)	C3AR1-related disorder	GUncertain significance
Select item 3244256	NC_000012.11:g.(?_7053285)_(9027607_?)del	A2ML1, ACSM4 +35 more	Deletion	Peroxisome biogenesis disorder 2B +1 more	GPathogenic
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2426174	NC_000012.11:g.(?_8211333)_(8248686_?)dup	C3AR1, NECAP1	Duplication	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1473612	NC_000012.11:g.(?_6438478)_(8756953_?)dup	ACRBP, ACSM4 +64 more	Duplication	not provided	GUncertain significance
Select item 1409561	NC_000012.11:g.(?_6438478)_(8248686_?)dup	COPS7A, DPPA3 +57 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 1373618	NC_000012.11:g.(?_6978008)_(9010204_?)dup	C12orf57, ATN1 +40 more	Duplication	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	CLEC4A, LRRC23 +106 more	Copy number gain	Single transverse palmar crease +6 more	GPathogenic
Select item 1004385	NC_000012.11:g.(?_6945914)_(9027627_?)dup	C1RL, C1S +44 more	Duplication	Klippel-Feil syndrome 3, autosomal dominant	GUncertain significance
Select item 979952	GRCh37/hg19 12p13.31(chr12:7755907-8436318)x3	FAM90A1, NECAP1 +12 more	Copy number gain	not provided	GLikely benign
Select item 832123	NC_000012.12:g.(?_7689858)_(8096110_?)dup	C3AR1, CLEC4C +8 more	Duplication	Developmental and epileptic encephalopathy, 21	GUncertain significance
Select item 830465	NC_000012.11:g.(?_6945914)_(8248706_?)dup	ACSM4, APOBEC1 +34 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 685635	GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	ACRBP, ACSM4 +107 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 89