ClinVar for Gene (Select 91179) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242338	GRCh37/hg19 22q11.21(chr22:19016502-21464637)x1	AIFM3, ARVCF +43 more	Copy number loss	not provided	GPathogenic
Select item 3242285	GRCh37/hg19 22q11.21(chr22:20730747-21465668)x3	AIFM3, CRKL +12 more	Copy number gain	not provided	GUncertain significance
Select item 3242284	GRCh37/hg19 22q11.21(chr22:18888685-21465668)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 3158346	NM_182895.5(SCARF2):c.89T>C (p.Leu30Pro)	SCARF2 (L30P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158345	NM_182895.5(SCARF2):c.68C>G (p.Pro23Arg)	SCARF2 (P23R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158344	NM_182895.5(SCARF2):c.457G>C (p.Glu153Gln)	SCARF2 (E153Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158343	NM_182895.5(SCARF2):c.2546A>G (p.Lys849Arg)	SCARF2 (K849R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158342	NM_182895.5(SCARF2):c.250T>C (p.Ser84Pro)	SCARF2 (S84P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158341	NM_182895.5(SCARF2):c.2016C>G (p.His672Gln)	SCARF2 (H672Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158340	NM_182895.5(SCARF2):c.1978G>A (p.Ala660Thr)	SCARF2 (A665T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158339	NM_182895.5(SCARF2):c.1970C>G (p.Pro657Arg)	SCARF2 (P657R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158338	NM_182895.5(SCARF2):c.1936T>C (p.Ser646Pro)	SCARF2 (S646P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158337	NM_182895.5(SCARF2):c.1867T>C (p.Tyr623His)	SCARF2 (Y628H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158336	NM_182895.5(SCARF2):c.1808C>G (p.Pro603Arg)	SCARF2 (P608R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158335	NM_182895.5(SCARF2):c.1754C>A (p.Pro585Gln)	SCARF2 (P590Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158334	NM_182895.5(SCARF2):c.1700C>T (p.Pro567Leu)	SCARF2 (P567L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158333	NM_182895.5(SCARF2):c.1609C>T (p.Pro537Ser)	SCARF2 (P537S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158332	NM_182895.5(SCARF2):c.1562A>G (p.Asn521Ser)	SCARF2 (N521S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158331	NM_182895.5(SCARF2):c.1181G>A (p.Ser394Asn)	SCARF2 (S394N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158330	NM_182895.5(SCARF2):c.112C>G (p.Pro38Ala)	SCARF2 (P38A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148947	GRCh37/hg19 22q11.21(chr22:18648856-21800471)x1	AIFM3, ARVCF +49 more	Copy number loss	See cases	GPathogenic
Select item 3148946	GRCh37/hg19 22q11.21(chr22:18649190-21800471)x3	AIFM3, ARVCF +49 more	Copy number gain	not provided	GPathogenic
Select item 3148922	GRCh37/hg19 22q11.21(chr22:18919478-21461017)x3	AIFM3, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 3148919	GRCh37/hg19 22q11.21(chr22:18649190-21022258)x3	ARVCF, C22orf39 +37 more	Copy number gain	See cases	GPathogenic
Select item 3148918	GRCh37/hg19 22q11.21(chr22:20723686-21800471)x1	AIFM3, CRKL +15 more	Copy number loss	not provided	GUncertain significance
Select item 3148900	GRCh37/hg19 22q11.21(chr22:20730144-21464764)x1	AIFM3, CRKL +12 more	Copy number loss	See cases	GUncertain significance
Select item 3148859	GRCh37/hg19 22q11.21(chr22:18919478-21927646)x3	AIFM3, ARVCF +50 more	Copy number gain	not provided	GPathogenic
Select item 3148843	GRCh37/hg19 22q11.21(chr22:20716877-21800471)x1	AIFM3, CRKL +15 more	Copy number loss	not provided	GUncertain significance
Select item 3068052	NM_182895.5(SCARF2):c.649T>C (p.Cys217Arg)	SCARF2 (C217R)	Single nucleotide variant (missense variant)	Van den Ende-Gupta syndrome	GUncertain significance
Select item 3034833	NM_182895.5(SCARF2):c.1713G>A (p.Arg571=)	SCARF2	Single nucleotide variant (synonymous variant)	SCARF2-related disorder	GLikely benign
Select item 3033938	NM_182895.5(SCARF2):c.198T>C (p.Ala66=)	SCARF2	Single nucleotide variant (synonymous variant)	SCARF2-related disorder	GLikely benign
Select item 3026707	NM_182895.5(SCARF2):c.1114T>C (p.Cys372Arg)	SCARF2 (C372R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025472	NM_182895.5(SCARF2):c.1595C>T (p.Ser532Leu)	SCARF2 (S532L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2913286	NM_182895.5(SCARF2):c.80C>G (p.Ser27Trp)	SCARF2 (S27W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2886762	NM_182895.5(SCARF2):c.156C>T (p.Asn52=)	SCARF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2848354	NM_182895.5(SCARF2):c.1307-7C>T	SCARF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843197	NM_182895.5(SCARF2):c.1092C>T (p.Ser364=)	SCARF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2843196	NM_182895.5(SCARF2):c.1693+17C>G	SCARF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814106	NM_182895.5(SCARF2):c.1680T>G (p.Cys560Trp)	SCARF2 (C560W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790337	NM_182895.5(SCARF2):c.1306+15G>A	SCARF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2756998	NM_182895.5(SCARF2):c.2187G>A (p.Glu729=)	SCARF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2752005	NM_182895.5(SCARF2):c.678C>T (p.Ser226=)	SCARF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2727094	NM_182895.5(SCARF2):c.70C>G (p.Leu24Val)	SCARF2 (L24V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2725518	NM_182895.5(SCARF2):c.1425-33C>T	SCARF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2713068	NM_182895.5(SCARF2):c.1563C>T (p.Asn521=)	SCARF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685672	GRCh37/hg19 22q11.1-11.21(chr22:17832142-20945625)x1	RTL10, RTN4R +45 more	Copy number loss	not provided	GPathogenic
Select item 2672921	GRCh37/hg19 22q11.21(chr22:18893888-21563415)x1	AIFM3, ARVCF +46 more	Copy number loss	not provided	GPathogenic
Select item 2663892	GRCh38/hg38 22q11.21(chr22:18856290-21070117)x3	AIFM3, ARVCF +174 more	Copy number gain	Microcephaly-digital anomalies-intellectual disability syndrome	GPathogenic
Select item 2652899	NM_182895.5(SCARF2):c.143C>T (p.Pro48Leu)	SCARF2 (P48L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2652898	NM_182895.5(SCARF2):c.972C>A (p.Gly324=)	SCARF2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2652897	NM_182895.5(SCARF2):c.1300C>T (p.His434Tyr)	SCARF2 (H434Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652896	NM_182895.5(SCARF2):c.2061C>T (p.Gly687=)	SCARF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652895	NM_182895.5(SCARF2):c.2558A>G (p.Glu853Gly)	SCARF2 (E853G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2622543	NM_182895.5(SCARF2):c.1304T>G (p.Leu435Arg)	SCARF2 (L435R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622171	NM_182895.5(SCARF2):c.995C>T (p.Pro332Leu)	SCARF2 (P332L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606680	NM_182895.5(SCARF2):c.1730C>G (p.Thr577Ser)	SCARF2 (T582S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605394	NM_182895.5(SCARF2):c.2555G>T (p.Arg852Leu)	SCARF2 (R852L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601567	NM_182895.5(SCARF2):c.2437G>A (p.Ala813Thr)	SCARF2 (A813T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593847	NM_182895.5(SCARF2):c.2588C>T (p.Ala863Val)	SCARF2 (A863V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593636	NM_182895.5(SCARF2):c.1703C>T (p.Ala568Val)	SCARF2 (A568V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593601	NM_182895.5(SCARF2):c.565G>A (p.Ala189Thr)	SCARF2 (A189T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2590481	NM_182895.5(SCARF2):c.388C>A (p.Pro130Thr)	SCARF2 (P130T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580309	GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3	AIFM3, ARVCF +45 more	Copy number gain	Chromosome 22q11.2 deletion syndrome, distal +1 more	GPathogenic
Select item 2580299	GRCh37/hg19 22q11.21(chr22:20609932-21576553)x1	AIFM3, CRKL +14 more	Copy number loss	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 2579266	GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1	AIFM3, ARVCF +169 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 2574134	NC_000022.11:g.18948676_21110520del	LOC130066999, LOC130067004 +170 more	Deletion	Velocardiofacial syndrome	GPathogenic
Select item 2572172	NC_000022.11:g.18948676_21110520dup	LOC130066967, TSSK2 +170 more	Duplication	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 2571168	GRCh37/hg19 22q11.21(chr22:18893888-21481925)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 2556300	NM_182895.5(SCARF2):c.1739C>T (p.Ala580Val)	SCARF2 (A585V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2540609	NM_182895.5(SCARF2):c.2576G>A (p.Gly859Asp)	SCARF2 (G859D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537154	NM_182895.5(SCARF2):c.163C>G (p.Arg55Gly)	SCARF2 (R55G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535015	NM_182895.5(SCARF2):c.611C>T (p.Ala204Val)	SCARF2 (A204V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534531	NM_182895.5(SCARF2):c.484A>G (p.Thr162Ala)	SCARF2 (T162A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2533264	NM_182895.5(SCARF2):c.1478G>A (p.Ser493Asn)	SCARF2 (S493N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530016	NM_182895.5(SCARF2):c.1483A>T (p.Ile495Phe)	SCARF2 (I495F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528934	NM_182895.5(SCARF2):c.1802C>T (p.Pro601Leu)	SCARF2 (P601L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524347	NM_182895.5(SCARF2):c.610G>T (p.Ala204Ser)	SCARF2 (A204S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521791	NM_182895.5(SCARF2):c.2079C>A (p.Ser693Arg)	SCARF2 (S698R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2500262	NM_182895.5(SCARF2):c.3G>A (p.Met1Ile)	SCARF2 (M1I)	Single nucleotide variant (missense variant +1 more)	Van den Ende-Gupta syndrome	GLikely pathogenic
Select item 2499638	GRCh38/hg38 22q11.21(chr22:20354589-21405291)	LINC01637, LINC01651 +72 more	Copy number loss	22q11.2 central deletion syndrome	GUncertain significance
Select item 2498202	Single allele	AIFM3, ARVCF +190 more	Deletion	22q11.2 deletion syndrome	GPathogenic
Select item 2485140	NM_182895.5(SCARF2):c.2327G>A (p.Gly776Asp)	SCARF2 (G776D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2475282	NM_182895.5(SCARF2):c.1448A>C (p.Lys483Thr)	SCARF2 (K488T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475281	NM_182895.5(SCARF2):c.1447A>G (p.Lys483Glu)	SCARF2 (K483E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470300	NM_182895.5(SCARF2):c.2575G>A (p.Gly859Ser)	SCARF2 (G859S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464359	NM_182895.5(SCARF2):c.1969C>T (p.Pro657Ser)	SCARF2 (P657S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458605	NM_182895.5(SCARF2):c.1741G>C (p.Glu581Gln)	SCARF2 (E581Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445211	Single allele	AIFM3, ARVCF +45 more	Deletion	See cases	GPathogenic
Select item 2414339	NM_182895.5(SCARF2):c.2341C>T (p.Leu781=)	SCARF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2406532	NM_182895.5(SCARF2):c.1877T>G (p.Val626Gly)	SCARF2 (V626G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373751	NM_182895.5(SCARF2):c.1852C>T (p.Pro618Ser)	SCARF2 (P623S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366942	NM_182895.5(SCARF2):c.172G>A (p.Gly58Ser)	SCARF2 (G58S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358089	NM_182895.5(SCARF2):c.1418C>A (p.Thr473Lys)	SCARF2 (T473K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355392	NM_182895.5(SCARF2):c.41G>A (p.Arg14His)	SCARF2 (R14H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337652	NM_182895.5(SCARF2):c.1897C>T (p.Pro633Ser)	SCARF2 (P638S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333123	NM_182895.5(SCARF2):c.457G>A (p.Glu153Lys)	SCARF2 (E153K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319629	NM_182895.5(SCARF2):c.1643C>T (p.Ser548Phe)	SCARF2 (S548F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304638	NM_182895.5(SCARF2):c.1144G>A (p.Gly382Arg)	SCARF2 (G382R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281155	NM_182895.5(SCARF2):c.1699C>T (p.Pro567Ser)	SCARF2 (P567S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276280	NM_182895.5(SCARF2):c.1175T>C (p.Leu392Pro)	SCARF2 (L392P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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