ClinVar for Gene (Select 5954) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313427	NM_002901.4(RCN1):c.689C>T (p.Ala230Val)	RCN1 (A230V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152727	NM_002901.4(RCN1):c.961G>A (p.Gly321Arg)	RCN1 (G321R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152726	NM_002901.4(RCN1):c.910G>A (p.Glu304Lys)	RCN1 (E304K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152725	NM_002901.4(RCN1):c.508C>T (p.Arg170Cys)	RCN1 (R170C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152723	NM_002901.4(RCN1):c.262G>T (p.Val88Phe)	RCN1 (V88F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617242	NM_002901.4(RCN1):c.11G>C (p.Gly4Ala)	LOC130005476, RCN1 (G4A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538680	NM_002901.4(RCN1):c.562C>T (p.Arg188Trp)	RCN1 (R188W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511024	NM_002901.4(RCN1):c.223C>G (p.Leu75Val)	LOC130005476, RCN1 (L75V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487420	NM_002901.4(RCN1):c.131A>T (p.Glu44Val)	LOC130005476, RCN1 (E44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477717	NM_002901.4(RCN1):c.148C>T (p.Pro50Ser)	LOC130005476, RCN1 (P50S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475423	NM_002901.4(RCN1):c.302C>G (p.Thr101Ser)	RCN1 (T101S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475208	NM_002901.4(RCN1):c.40C>A (p.Leu14Met)	LOC130005476, RCN1 (L14M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472593	NM_002901.4(RCN1):c.746G>A (p.Arg249Gln)	RCN1 (R249Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427580	NC_000011.9:g.(?_30253450)_(32460464_?)del	ARL14EP, DCDC1 +9 more	Deletion	not provided	GUncertain significance
Select item 2409134	NM_002901.4(RCN1):c.92C>A (p.Pro31His)	RCN1, LOC130005476 (P31H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358743	NM_002901.4(RCN1):c.259A>G (p.Ile87Val)	RCN1 (I87V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325928	NM_002901.4(RCN1):c.126C>G (p.Asp42Glu)	LOC130005476, RCN1 (D42E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324685	NM_002901.4(RCN1):c.68C>A (p.Ala23Glu)	LOC130005476, RCN1 (A23E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314015	NM_002901.4(RCN1):c.527A>G (p.Lys176Arg)	RCN1 (K176R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293488	NM_002901.4(RCN1):c.604C>A (p.His202Asn)	RCN1 (H202N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284352	NM_002901.4(RCN1):c.65T>C (p.Leu22Pro)	LOC130005476, RCN1 (L22P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276390	NM_002901.4(RCN1):c.274G>A (p.Asp92Asn)	RCN1 (D92N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272268	NM_002901.4(RCN1):c.913A>G (p.Ile305Val)	RCN1 (I305V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809027	GRCh37/hg19 11p13(chr11:31736984-32119792)x3	ELP4, PAX6 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808869	GRCh37/hg19 11p13(chr11:32044970-32153712)x1	RCN1	Copy number loss	not provided	GUncertain significance
Select item 1807696	GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1	ABTB2, APIP +40 more	Copy number loss	not provided	GPathogenic
Select item 1454826	NC_000011.9:g.(?_31669269)_(32460464_?)del	ELP4, PAX6 +3 more	Deletion	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 784188	NM_002901.4(RCN1):c.655G>A (p.Gly219Arg)	RCN1 (G219R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782955	NM_002901.4(RCN1):c.457G>A (p.Ala153Thr)	RCN1 (A153T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768439	NM_002901.4(RCN1):c.939C>T (p.Val313=)	RCN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 583750	NC_000011.9:g.(?_31284590)_(32456911_?)del	DCDC1, DNAJC24 +5 more	Deletion	Aniridia 1 +5 more	GPathogenic
Select item 563875	GRCh37/hg19 11p14.1-13(chr11:29883001-33865721)x1	ARL14EP, C11orf91 +23 more	Copy number loss	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	ABTB2, APIP +50 more	Copy number loss	See cases	GPathogenic
Select item 395339	GRCh37/hg19 11p13(chr11:31210842-35436121)x1	ABTB2, APIP +30 more	Copy number loss	See cases	GPathogenic
Select item 376759	GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	KCNA4, KIF18A +39 more	Copy number loss	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome	GPathogenic
Select item 376753	GRCh37/hg19 11p14.1-13(chr11:29750813-32752091)x1	MPPED2, KCNA4 +12 more	Copy number loss	11p partial monosomy syndrome	GPathogenic
Select item 253513	GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1	ABTB2, APIP +41 more	Copy number loss	See cases	GPathogenic
Select item 253466	GRCh37/hg19 11p13(chr11:31284306-32458309)x1	DCDC1, DNAJC24 +6 more	Copy number loss	See cases	GPathogenic
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 153496	GRCh38/hg38 11p13(chr11:31720362-32325516)x3	ELP4, LINC03031 +22 more	Copy number gain	See cases	GUncertain significance
Select item 151275	GRCh38/hg38 11p13(chr11:31600532-32122801)x3	ELP4, LINC03031 +23 more	Copy number gain	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 51