ClinVar for Gene (Select 84861) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 398

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3288934	NM_032775.4(KLHL22):c.815G>A (p.Ser272Asn)	KLHL22 (S272N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288933	NM_032775.4(KLHL22):c.1102C>G (p.Arg368Gly)	KLHL22 (R368G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288932	NM_032775.4(KLHL22):c.83G>A (p.Arg28His)	KLHL22 (R28H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288931	NM_032775.4(KLHL22):c.1370A>C (p.Glu457Ala)	KLHL22 (E457A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288930	NM_032775.4(KLHL22):c.824T>C (p.Met275Thr)	KLHL22 (M275T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288929	NM_032775.4(KLHL22):c.1531G>A (p.Val511Met)	KLHL22 (V511M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 3115556	NM_032775.4(KLHL22):c.935C>G (p.Thr312Ser)	KLHL22 (T312S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115554	NM_032775.4(KLHL22):c.710C>A (p.Pro237His)	KLHL22 (P237H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115553	NM_032775.4(KLHL22):c.248T>C (p.Leu83Ser)	KLHL22 (L83S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115552	NM_032775.4(KLHL22):c.245G>A (p.Gly82Glu)	KLHL22 (G82E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115550	NM_032775.4(KLHL22):c.1046A>T (p.Asn349Ile)	KLHL22 (N349I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115549	NM_032775.4(KLHL22):c.1043A>G (p.Asn348Ser)	KLHL22 (N348S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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	CLTCL1, COMT +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 2612364	NM_032775.4(KLHL22):c.1666C>T (p.Arg556Cys)	KLHL22 (R556C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604966	NM_032775.4(KLHL22):c.11A>G (p.Glu4Gly)	KLHL22 (E4G)	Single nucleotide variant (missense variant +1 more)	not specified	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 2546340	NM_032775.4(KLHL22):c.715A>C (p.Lys239Gln)	KLHL22 (K239Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531660	NM_032775.4(KLHL22):c.1012C>T (p.Arg338Cys)	KLHL22 (R338C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528438	NM_032775.4(KLHL22):c.611G>A (p.Arg204His)	KLHL22 (R204H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508234	NM_032775.4(KLHL22):c.427C>T (p.Leu143Phe)	KLHL22 (L143F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2499638	GRCh38/hg38 22q11.21(chr22:20354589-21405291)	AIFM3, CRKL +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 2484386	NM_032775.4(KLHL22):c.833G>T (p.Arg278Leu)	KLHL22 (R278L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484385	NM_032775.4(KLHL22):c.817G>A (p.Ala273Thr)	KLHL22 (A273T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459323	NM_032775.4(KLHL22):c.1231A>G (p.Asn411Asp)	KLHL22 (N411D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2445211	Single allele	AIFM3, ARVCF +45 more	Deletion	See cases	GPathogenic
Select item 2409769	NM_032775.4(KLHL22):c.1445G>A (p.Arg482Gln)	KLHL22 (R482Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340494	NM_032775.4(KLHL22):c.1667G>A (p.Arg556His)	KLHL22 (R556H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286878	NM_032775.4(KLHL22):c.1013G>A (p.Arg338His)	KLHL22 (R338H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261430	NM_032775.4(KLHL22):c.898G>A (p.Val300Ile)	KLHL22 (V300I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251202	NM_032775.4(KLHL22):c.1459G>A (p.Gly487Ser)	KLHL22 (G487S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218596	NM_032775.4(KLHL22):c.184G>C (p.Glu62Gln)	KLHL22 (E62Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217724	NM_032775.4(KLHL22):c.1629C>A (p.Asp543Glu)	KLHL22 (D543E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205732	NM_032775.4(KLHL22):c.1051G>A (p.Val351Ile)	KLHL22 (V351I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1879568	GRCh37/hg19 22q11.21(chr22:19184000-21416024)x1	AIFM3, ARVCF +38 more	Copy number loss	not provided	GPathogenic
Select item 1879567	GRCh37/hg19 22q11.21(chr22:18894078-21414817)x1	GP1BB, SCARF2 +45 more	Copy number loss	not provided	GPathogenic
Select item 1879566	GRCh37/hg19 22q11.21(chr22:18893888-21570386)x1	AIFM3, ARVCF +46 more	Copy number loss	not provided	GPathogenic
Select item 1879565	GRCh37/hg19 22q11.21(chr22:18834445-21414817)x1	TXNRD2, USP41 +45 more	Copy number loss	not provided	GPathogenic
Select item 1808875	GRCh37/hg19 22q11.21(chr22:18644791-21041014)x1	MRPL40, PRODH +37 more	Copy number loss	not provided	GPathogenic
Select item 1808742	GRCh37/hg19 22q11.21(chr22:20716877-21465659)x1	AIFM3, CRKL +12 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808741	GRCh37/hg19 22q11.21(chr22:18916843-21465659)x1	AIFM3, ARVCF +44 more	Copy number loss	not provided	GPathogenic
Select item 1808737	GRCh37/hg19 22q11.21(chr22:18916843-21075592)x1	ARVCF, C22orf39 +36 more	Copy number loss	not provided	GPathogenic
Select item 1808690	GRCh37/hg19 22q11.21(chr22:20725318-21800797)x1	AIFM3, CRKL +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808679	GRCh37/hg19 22q11.21(chr22:19336598-21208828)x1	ARVCF, C22orf39 +30 more	Copy number loss	not provided	GPathogenic
Select item 1808642	GRCh37/hg19 22q11.21(chr22:18644543-21800797)x1	C22orf39, CDC45 +49 more	Copy number loss	not provided	GPathogenic
Select item 1808633	GRCh37/hg19 22q11.21(chr22:18916843-21915509)x1	AIFM3, ARVCF +50 more	Copy number loss	not provided	GPathogenic
Select item 1808620	GRCh37/hg19 22q11.21(chr22:18648867-21798907)x3	LZTR1, KLHL22 +49 more	Copy number gain	not provided	GPathogenic
Select item 1808608	GRCh37/hg19 22q11.21(chr22:18916828-21800797)x1	AIFM3, ARVCF +47 more	Copy number loss	not provided	GPathogenic
Select item 1808421	GRCh37/hg19 22q11.21(chr22:19046677-21465662)x1	CDC45, CLTCL1 +43 more	Copy number loss	not provided	GPathogenic
Select item 1807875	GRCh37/hg19 22q11.21(chr22:19647905-21153690)x1	ARVCF, COMT +24 more	Copy number loss	not provided	GPathogenic
Select item 1807748	GRCh37/hg19 22q11.21(chr22:20728957-21800797)x1	P2RX6, RIMBP3B +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807729	GRCh37/hg19 22q11.21(chr22:18916843-21033401)x1	CDC45, CLDN5 +35 more	Copy number loss	not provided	GPathogenic
Select item 1807726	GRCh37/hg19 22q11.21(chr22:18916843-21800471)x1	C22orf39, AIFM3 +47 more	Copy number loss	not provided	GPathogenic
Select item 1807721	GRCh37/hg19 22q11.21(chr22:20725309-21804563)x1	AIFM3, CRKL +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807719	GRCh37/hg19 22q11.21(chr22:18916843-21804563)x3	AIFM3, ARVCF +47 more	Copy number gain	not provided	GPathogenic
Select item 1807715	GRCh37/hg19 22q11.21(chr22:20728957-21798907)x1	AIFM3, CRKL +15 more	Copy number loss	not provided	GPathogenic
Select item 1807705	GRCh37/hg19 22q11.21(chr22:18648867-21465659)x1	AIFM3, ARVCF +46 more	Copy number loss	not provided	GPathogenic
Select item 1807702	GRCh37/hg19 22q11.21(chr22:18916843-21798907)x3	RTL10, RTN4R +47 more	Copy number gain	not provided	GPathogenic
Select item 1711557	GRCh37/hg19 22q11.21(chr22:18893888-21414817)x3	AIFM3, ARVCF +45 more	Copy number gain	not provided	GPathogenic
Select item 1710921	GRCh37/hg19 22q11.21(chr22:20725308-21465659)x1	AIFM3, CRKL +12 more	Copy number loss	See cases	GPathogenic
Select item 1710917	GRCh37/hg19 22q11.21(chr22:18916842-21465659)x1	AIFM3, ARVCF +44 more	Copy number loss	See cases	GPathogenic
Select item 1708461	GRCh37/hg19 22q11.21(chr22:20732808-21800471)x1	HIC2, KLHL22 +14 more	Copy number loss	See cases	GPathogenic
Select item 1708268	GRCh37/hg19 22q11.21(chr22:20732808-21465659)x1	AIFM3, CRKL +11 more	Copy number loss	See cases	GPathogenic
Select item 1708200	GRCh37/hg19 22q11.21(chr22:18644542-21465659)x1	AIFM3, ARVCF +46 more	Copy number loss	See cases	GPathogenic
Select item 1707629	GRCh37/hg19 22q11.21(chr22:18718623-21563155)x1	AIFM3, ESS2 +47 more	Copy number loss	Syndromic anorectal malformation	GLikely pathogenic
Select item 1707626	GRCh37/hg19 22q11.21(chr22:18644702-21467607)x1	USP18, USP41 +52 more	Copy number loss	Syndromic anorectal malformation	GPathogenic
Select item 1707429	GRCh37/hg19 22q11.21(chr22:20310410-21804886)x1	AIFM3, CRKL +19 more	Copy number loss	See cases	GPathogenic
Select item 1703650	GRCh37/hg19 22q11.1-11.21(chr22:16888899-21915509)	ADA2, AIFM3 +68 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703649	GRCh37/hg19 22q11.21(chr22:18916827-21804886)	AIFM3, ARVCF +47 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703647	GRCh37/hg19 22q11.21(chr22:18917047-21465659)	AIFM3, ARVCF +44 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703646	GRCh37/hg19 22q11.21(chr22:20732808-21465659)	AIFM3, CRKL +11 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GLikely pathogenic
Select item 1703644	GRCh37/hg19 22q11.21(chr22:18893344-21650280)	AIFM3, ARVCF +46 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703643	GRCh37/hg19 22q11.21(chr22:18648866-21798907)	AIFM3, ARVCF +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703642	GRCh37/hg19 22q11.21(chr22:18644790-21800471)	AIFM3, ARVCF +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703641	GRCh37/hg19 22q11.21(chr22:18916842-21798907)	AIFM3, ARVCF +47 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703640	GRCh37/hg19 22q11.21(chr22:18644790-21798907)	ESS2, FAM230A +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703639	GRCh37/hg19 22q11.21(chr22:18645353-21800797)	AIFM3, ARVCF +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703237	Single allele	AIFM3, ARVCF +169 more	Duplication	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703235	Single allele	AIFM3, ARVCF +169 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 1701447	GRCh37/hg19 22q11.21(chr22:18893888-21414817)x1	RTL10, USP41 +45 more	Copy number loss	not provided	GPathogenic
Select item 1684640	Single allele	LOC130066986, LOC130066994 +170 more	Deletion	Velocardiofacial syndrome	GPathogenic
Select item 1684558	GRCh37/hg19 22q11.21(chr22:18718028-21326012)x1	AIFM3, ARVCF +41 more	Copy number loss	See cases	GPathogenic

<< First< Prev

Page of 4