ClinVar for Gene (Select 3984) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148885	GRCh37/hg19 7q11.23(chr7:72701099-74186150)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	not provided	GPathogenic
Select item 3118894	NM_002314.4(LIMK1):c.986G>A (p.Arg329Gln)	LIMK1 (R295Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118893	NM_002314.4(LIMK1):c.944G>A (p.Arg315His)	LIMK1 (R281H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118892	NM_002314.4(LIMK1):c.827C>T (p.Pro276Leu)	LIMK1 (P242L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118890	NM_002314.4(LIMK1):c.607G>C (p.Gly203Arg)	LIMK1 (G203R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118889	NM_002314.4(LIMK1):c.433C>G (p.Pro145Ala)	LIMK1 (P111A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118888	NM_002314.4(LIMK1):c.1709A>C (p.Tyr570Ser)	LIMK1 (Y536S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062986	GRCh37/hg19 7q11.21-11.23(chr7:66776724-74629034)x3	ABHD11, ABHD11-AS1 +35 more	Copy number gain	not specified	GPathogenic
Select item 3062971	GRCh37/hg19 7q11.23(chr7:72732819-76003862)x3	ABHD11, ABHD11-AS1 +43 more	Copy number gain	not specified	GPathogenic
Select item 3047192	NM_002314.4(LIMK1):c.732G>A (p.Gln244=)	LIMK1	Single nucleotide variant (synonymous variant)	LIMK1-related condition	GLikely benign
Select item 3044999	NM_002314.4(LIMK1):c.1446G>A (p.Ala482=)	LIMK1	Single nucleotide variant (synonymous variant)	LIMK1-related condition	GLikely benign
Select item 3044233	NM_002314.4(LIMK1):c.*1G>A	LIMK1	Single nucleotide variant (3 prime UTR variant)	LIMK1-related condition	GLikely benign
Select item 3038729	NM_002314.4(LIMK1):c.687G>A (p.Thr229=)	LIMK1	Single nucleotide variant (synonymous variant)	LIMK1-related condition	GLikely benign
Select item 3037439	NM_002314.4(LIMK1):c.1567+7G>A	LIMK1	Single nucleotide variant (intron variant)	LIMK1-related condition	GBenign
Select item 2685248	GRCh37/hg19 7q11.23(chr7:73142034-73690195)x1	CLDN3, ABHD11-AS1 +10 more	Copy number loss	not provided	GPathogenic
Select item 2684488	GRCh37/hg19 7q11.23(chr7:72547476-74263704)x3	NCF1, NSUN5 +27 more	Copy number gain	not provided	GPathogenic
Select item 2657584	NM_002314.4(LIMK1):c.567G>A (p.Pro189=)	LIMK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657583	NM_002314.4(LIMK1):c.384G>A (p.Glu128=)	LIMK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657582	NM_002314.4(LIMK1):c.292-8C>T	LIMK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2611824	NM_002314.4(LIMK1):c.1469C>T (p.Thr490Ile)	LIMK1 (T456I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592835	NM_002314.4(LIMK1):c.851C>T (p.Ala284Val)	LIMK1 (A284V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2575239	GRCh37/hg19 7q11.23(chr7:72718277-74142256)	TBL2, TMEM270 +25 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2574694	GRCh37/hg19 7q11.23(chr7:72664461-74162586)	ABHD11, ABHD11-AS1 +25 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2574138	NC_000007.14:g.73304277_74727414del	ABHD11, ABHD11-AS1 +129 more	Deletion	Williams syndrome	GPathogenic
Select item 2532876	NM_002314.4(LIMK1):c.926G>T (p.Gly309Val)	LIMK1 (G309V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515570	NM_002314.4(LIMK1):c.1571G>A (p.Arg524His)	LIMK1 (R524H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506562	GRCh37/hg19 7q11.23(chr7:72717395-74173168)	BAZ1B, CLDN4 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 2505469	Single allele	ABHD11, ABHD11-AS1 +132 more	Deletion	Williams syndrome	GPathogenic
Select item 2499666	GRCh38/hg38 7q11.23(chr7:73229597-74727852)	ABHD11, ABHD11-AS1 +131 more	Copy number loss	Williams syndrome	GPathogenic
Select item 2494498	NM_002314.4(LIMK1):c.1927C>A (p.Pro643Thr)	LIMK1 (P609T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485320	NM_002314.4(LIMK1):c.1901G>A (p.Arg634His)	LIMK1 (R600H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483533	NM_002314.4(LIMK1):c.100G>C (p.Asp34His)	LIMK1 (D34H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467291	NM_002314.4(LIMK1):c.392A>G (p.Lys131Arg)	LIMK1 (K131R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454208	NM_002314.4(LIMK1):c.595G>A (p.Val199Ile)	LIMK1 (V165I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396746	NM_002314.4(LIMK1):c.232G>A (p.Ala78Thr)	LIMK1 (A78T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394499	NM_002314.4(LIMK1):c.286G>A (p.Val96Ile)	LIMK1 (V62I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380664	NM_002314.4(LIMK1):c.1840C>T (p.His614Tyr)	LIMK1 (H580Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350626	NM_002314.4(LIMK1):c.1060A>C (p.Ile354Leu)	LIMK1 (I354L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340810	NM_002314.4(LIMK1):c.958C>A (p.Arg320Ser)	LIMK1 (R286S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338067	NM_002314.4(LIMK1):c.807G>T (p.Glu269Asp)	LIMK1 (E235D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335595	NM_002314.4(LIMK1):c.194A>G (p.Glu65Gly)	LIMK1 (E65G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321845	NM_002314.4(LIMK1):c.1406G>A (p.Arg469His)	LIMK1 (R435H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317493	NM_002314.4(LIMK1):c.554C>A (p.Pro185Gln)	LIMK1 (P185Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280064	NM_002314.4(LIMK1):c.1120G>A (p.Asp374Asn)	LIMK1 (D340N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249454	NM_002314.4(LIMK1):c.1144C>T (p.Leu382Phe)	LIMK1 (L348F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227142	NM_002314.4(LIMK1):c.70G>A (p.Val24Met)	LIMK1 (V24M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2226619	NM_002314.4(LIMK1):c.976G>A (p.Val326Ile)	LIMK1 (V292I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217302	NM_002314.4(LIMK1):c.1125G>C (p.Glu375Asp)	LIMK1 (E341D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808834	GRCh37/hg19 7q11.23(chr7:72718278-74143060)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1808638	GRCh37/hg19 7q11.23(chr7:72718278-74143240)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807825	GRCh37/hg19 7q11.23(chr7:72654782-74142190)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807812	GRCh37/hg19 7q11.23(chr7:72643632-74143060)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807742	GRCh37/hg19 7q11.23(chr7:72718278-74142256)x1	ABHD11-AS1, BAZ1B +25 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1706524	GRCh37/hg19 7q11.23(chr7:72718277-74142190)x1	BAZ1B, BUD23 +25 more	Copy number loss	See cases	GPathogenic
Select item 1703677	GRCh37/hg19 7q11.23(chr7:72686958-74155067)	ABHD11, ABHD11-AS1 +25 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 1703596	GRCh37/hg19 7q11.23(chr7:72700127-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703595	GRCh37/hg19 7q11.23(chr7:72701084-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703594	GRCh37/hg19 7q11.23(chr7:72700942-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703593	GRCh37/hg19 7q11.23(chr7:72700996-74142256)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703592	GRCh37/hg19 7q11.23(chr7:72921550-74145628)	ABHD11, ABHD11-AS1 +21 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703591	GRCh37/hg19 7q11.23(chr7:72718123-74141784)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703590	GRCh37/hg19 7q11.23(chr7:72645013-74142190)	BAZ1B, BCL7B +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703588	GRCh37/hg19 7q11.23(chr7:72589515-74629034)	ABHD11, ABHD11-AS1 +29 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703587	GRCh37/hg19 7q11.23(chr7:72589195-74225562)	ABHD11, ABHD11-AS1 +27 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703586	GRCh37/hg19 7q11.23(chr7:72718123-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1341969	GRCh37/hg19 7q11.23(chr7:72766313-74042787)x3	BAZ1B, BCL7B +22 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 1330192	GRCh37/hg19 7q11.23(chr7:72717345-74133310)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	Distal 7q11.23 microdeletion syndrome	GPathogenic
Select item 1071515	NC_000007.13:g.(?_73150889)_(73604636_?)del	ABHD11, CLDN3 +6 more	Deletion	Supravalvar aortic stenosis	GPathogenic
Select item 988936	GRCh37/hg19 7q11.23(chr7:72717369-74142224)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 980829	GRCh37/hg19 7q11.22-11.23(chr7:68977230-73939510)x1	ABHD11, ABHD11-AS1 +30 more	Copy number loss	not provided	GPathogenic
Select item 979622	GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1	TBL2, TMEM120A +50 more	Copy number loss	not provided	GPathogenic
Select item 979621	GRCh37/hg19 7q11.23(chr7:72659674-74164894)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	not provided	GPathogenic
Select item 978415	NC_000007.14:g.73773313_74086695del	CLDN4, ELN +3 more	Deletion	Williams syndrome	GPathogenic
Select item 929343	GRCh37/hg19 7q11.23(chr7:72722981-74141840)x3	ABHD11, ABHD11-AS1 +24 more	Copy number gain	See cases	GPathogenic
Select item 830314	Single allele	ABHD11, ABHD11-AS1 +25 more	Deletion	Williams syndrome	GPathogenic
Select item 814991	GRCh37/hg19 7q11.23(chr7:72996564-73597315)x1	STX1A, ABHD11 +12 more	Copy number loss	not provided	GPathogenic
Select item 814990	GRCh37/hg19 7q11.23(chr7:72621722-76007380)x1	VPS37D, CLDN4 +44 more	Copy number loss	not provided	GPathogenic
Select item 797183	NM_002314.4(LIMK1):c.600C>A (p.Arg200=)	LIMK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 797093	NM_002314.4(LIMK1):c.744C>T (p.Arg248=)	LIMK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782705	NM_002314.4(LIMK1):c.339G>A (p.Thr113=)	LIMK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 781649	NM_002314.4(LIMK1):c.197A>C (p.Lys66Thr)	LIMK1 (K66T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773741	NM_002314.4(LIMK1):c.569G>C (p.Gly190Ala)	LIMK1 (G156A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773740	NM_002314.4(LIMK1):c.180G>A (p.Ser60=)	LIMK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 768160	NM_002314.4(LIMK1):c.1836C>A (p.Ala612=)	LIMK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 760820	NM_002314.4(LIMK1):c.1568-4C>G	LIMK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 758499	NM_002314.4(LIMK1):c.1860G>A (p.Gln620=)	LIMK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 756689	NM_002314.4(LIMK1):c.1686C>T (p.Asn562=)	LIMK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 755736	NM_002314.4(LIMK1):c.1140G>A (p.Thr380=)	LIMK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 752326	NM_002314.4(LIMK1):c.60C>T (p.Ser20=)	LIMK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 749023	NM_002314.4(LIMK1):c.1668C>A (p.Thr556=)	LIMK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745922	NM_002314.4(LIMK1):c.1008G>A (p.Pro336=)	LIMK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739456	NM_002314.4(LIMK1):c.843C>T (p.Ser281=)	LIMK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739085	NM_002314.4(LIMK1):c.762C>T (p.Leu254=)	LIMK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738684	NM_002314.4(LIMK1):c.1749C>T (p.Thr583=)	LIMK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738547	NM_002314.4(LIMK1):c.1345-8G>A	LIMK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 738042	NM_002314.4(LIMK1):c.1836C>T (p.Ala612=)	LIMK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738041	NM_002314.4(LIMK1):c.1773C>T (p.Pro591=)	LIMK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734999	NM_002314.4(LIMK1):c.1611C>T (p.Ile537=)	LIMK1	Single nucleotide variant (synonymous variant)	LIMK1-related condition +1 more	GBenign/Likely benign

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