ClinVar for Gene (Select 51586) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294027	NM_001003891.3(MED15):c.316C>G (p.Pro106Ala)	MED15 (P106A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294026	NM_001003891.3(MED15):c.860C>G (p.Pro287Arg)	MED15 (P261R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294025	NM_001003891.3(MED15):c.1291C>G (p.Pro431Ala)	MED15 (P391A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294024	NM_001003891.3(MED15):c.248A>G (p.Asn83Ser)	MED15 (N57S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294023	NM_001003891.3(MED15):c.1442T>C (p.Leu481Pro)	MED15 (L370P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294022	NM_001003891.3(MED15):c.13G>C (p.Gly5Arg)	LOC130066997, MED15 (G5R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294020	NM_001003891.3(MED15):c.2108C>T (p.Thr703Ile)	MED15 (T646I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294019	NM_001003891.3(MED15):c.1405G>A (p.Val469Ile)	MED15 (V358I +4 more)	Single nucleotide variant (missense variant)	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 3235715	NM_001003891.3(MED15):c.916C>T (p.Gln306Ter)	MED15 (Q235* +2 more)	Single nucleotide variant (nonsense)	not provided	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 3124960	NM_001003891.3(MED15):c.761A>G (p.Gln254Arg)	MED15 (Q254R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124959	NM_001003891.3(MED15):c.357G>A (p.Met119Ile)	MED15 (M119I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124958	NM_001003891.3(MED15):c.355A>G (p.Met119Val)	MED15 (M119V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124957	NM_001003891.3(MED15):c.301A>T (p.Met101Leu)	MED15 (M75L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124956	NM_001003891.3(MED15):c.2338G>A (p.Val780Ile)	MED15 (V669I +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3124955	NM_001003891.3(MED15):c.2311G>A (p.Ala771Thr)	MED15 (A731T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124954	NM_001003891.3(MED15):c.2257C>T (p.His753Tyr)	MED15 (H642Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124953	NM_001003891.3(MED15):c.1951G>A (p.Gly651Ser)	MED15 (G540S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124952	NM_001003891.3(MED15):c.172C>G (p.Leu58Val)	MED15 (L32V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124950	NM_001003891.3(MED15):c.1313C>T (p.Pro438Leu)	MED15 (P438L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124949	NM_001003891.3(MED15):c.1214C>T (p.Thr405Ile)	MED15 (T405I)	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	COMT, GSC2 +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 2652904	NM_001003891.3(MED15):c.2232C>T (p.Asp744=)	MED15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652903	NM_001003891.3(MED15):c.751CAG[9] (p.Gln260_Gln262del)	MED15	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2652902	NM_001003891.3(MED15):c.633GCA[9] (p.Gln218_His219insGln)	MED15	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2652901	NM_001003891.3(MED15):c.629_655del (p.Leu210_Gln218del)	LOC130067000, MED15	Deletion (inframe_deletion)	not provided	GBenign
Select item 2652900	NM_001003891.3(MED15):c.387G>A (p.Pro129=)	MED15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2603909	NM_001003891.3(MED15):c.787G>A (p.Ala263Thr)	MED15 (A263T +2 more)	Single nucleotide variant (missense variant)	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	TANGO2, UFD1 +45 more	Copy number loss	not provided	GPathogenic
Select item 2569288	NM_001003891.3(MED15):c.524C>T (p.Ala175Val)	MED15 (A104V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2554388	NM_001003891.3(MED15):c.2324C>A (p.Thr775Asn)	MED15 (T718N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553608	NM_001003891.3(MED15):c.331G>A (p.Gly111Ser)	MED15 (G85S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546555	NM_001003891.3(MED15):c.1375G>T (p.Gly459Cys)	MED15 (G348C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539221	NM_001003891.3(MED15):c.2215C>T (p.Arg739Trp)	MED15 (R699W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526073	NM_001003891.3(MED15):c.1211C>T (p.Thr404Ile)	MED15 (T404I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524272	NM_001003891.3(MED15):c.2020A>G (p.Ile674Val)	MED15 (I608V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513388	NM_001003891.3(MED15):c.1477G>T (p.Val493Leu)	MED15 (V436L +4 more)	Single nucleotide variant (missense variant)	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 2493092	NM_001003891.3(MED15):c.1579G>A (p.Ala527Thr)	MED15 (A527T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488675	NM_001003891.3(MED15):c.1889G>A (p.Arg630His)	MED15 (R573H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479479	NM_001003891.3(MED15):c.1189A>G (p.Ile397Val)	MED15 (I397V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2445211	Single allele	AIFM3, ARVCF +45 more	Deletion	See cases	GPathogenic
Select item 2404586	NM_001003891.3(MED15):c.345C>G (p.Ser115Arg)	MED15 (S115R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388774	NM_001003891.3(MED15):c.1950C>A (p.His650Gln)	MED15 (H593Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363908	NM_001003891.3(MED15):c.1564G>A (p.Ala522Thr)	MED15 (A465T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349706	NM_001003891.3(MED15):c.262C>G (p.Leu88Val)	MED15 (L88V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309356	NM_001003891.3(MED15):c.2320A>G (p.Asn774Asp)	MED15 (N734D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305763	NM_001003891.3(MED15):c.1757A>G (p.Gln586Arg)	MED15 (Q520R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291786	NM_001003891.3(MED15):c.332G>A (p.Gly111Asp)	MED15 (G111D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232601	NM_001003891.3(MED15):c.820C>T (p.Pro274Ser)	MED15 (P203S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879568	GRCh37/hg19 22q11.21(chr22:19184000-21416024)x1	RTN4R, SLC7A4 +38 more	Copy number loss	not provided	GPathogenic
Select item 1879567	GRCh37/hg19 22q11.21(chr22:18894078-21414817)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 1879566	GRCh37/hg19 22q11.21(chr22:18893888-21570386)x1	FAM230A, GGT2 +46 more	Copy number loss	not provided	GPathogenic
Select item 1879565	GRCh37/hg19 22q11.21(chr22:18834445-21414817)x1	AIFM3, ARVCF +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	THAP7, TMEM191B +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

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