5081[geneid] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	LOC126805640, LOC126805641 +206 more	Copy number loss	See cases	GPathogenic
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 2638400	NM_001135254.2(PAX7):c.21G>T (p.Thr7=)	LOC108254694, PAX7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 689507	NM_001135254.2(PAX7):c.86-1G>A	PAX7	Single nucleotide variant (splice acceptor variant)	Myopathy, congenital, progressive, with scoliosis	GPathogenic
Select item 2638401	NM_001135254.2(PAX7):c.93C>T (p.Thr31=)	PAX7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2456182	NM_001135254.2(PAX7):c.95C>T (p.Pro32Leu)	PAX7 (P32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316685	NM_001135254.2(PAX7):c.112G>T (p.Val38Phe)	PAX7 (V38F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 689509	NM_001135254.2(PAX7):c.166C>T (p.Arg56Cys)	PAX7 (R56C)	Single nucleotide variant (missense variant)	Myopathy, congenital, progressive, with scoliosis	GPathogenic
Select item 3052006	NM_001135254.2(PAX7):c.189C>A (p.Ala63=)	PAX7	Single nucleotide variant (synonymous variant)	PAX7-related disorder	GLikely benign
Select item 2465404	NM_001135254.2(PAX7):c.201C>G (p.Ile67Met)	PAX7 (I67M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 689508	NM_001135254.2(PAX7):c.220C>T (p.Arg74Ter)	PAX7 (R74*)	Single nucleotide variant (nonsense)	Alveolar rhabdomyosarcoma +1 more	GLikely pathogenic
Select item 2590561	NM_001135254.2(PAX7):c.229C>T (p.Arg77Cys)	PAX7 (R77C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036052	NM_001135254.2(PAX7):c.276G>A (p.Glu92=)	PAX7	Single nucleotide variant (synonymous variant)	PAX7-related disorder	GLikely benign
Select item 2298574	NM_001135254.2(PAX7):c.287T>C (p.Ile96Thr)	PAX7 (I96T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050695	NM_001135254.2(PAX7):c.291G>A (p.Arg97=)	PAX7	Single nucleotide variant (synonymous variant)	PAX7-related disorder	GLikely benign
Select item 2689659	NM_001135254.2(PAX7):c.307G>A (p.Gly103Ser)	PAX7 (G103S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 998310	NM_001135254.2(PAX7):c.335C>T (p.Pro112Leu)	PAX7 (P112L)	Single nucleotide variant (missense variant)	Alveolar rhabdomyosarcoma +1 more	GUncertain significance
Select item 3053824	NM_001135254.2(PAX7):c.336G>T (p.Pro112=)	PAX7	Single nucleotide variant (synonymous variant)	PAX7-related disorder	GLikely benign
Select item 1694496	NM_001135254.2(PAX7):c.336G>A (p.Pro112=)	PAX7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3208987	NM_001135254.2(PAX7):c.337G>A (p.Asp113Asn)	PAX7 (D113N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304474	NM_001135254.2(PAX7):c.340G>A (p.Val114Ile)	PAX7 (V114I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638402	NM_001135254.2(PAX7):c.342A>G (p.Val114=)	PAX7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1027713	NM_001135254.2(PAX7):c.398T>C (p.Ile133Thr)	PAX7 (I133T)	Single nucleotide variant (missense variant)	Myopathy, congenital, progressive, with scoliosis	GUncertain significance
Select item 775519	NM_001135254.2(PAX7):c.408G>A (p.Arg136=)	PAX7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689506	NM_001135254.2(PAX7):c.433C>T (p.Arg145Ter)	PAX7 (R145*)	Single nucleotide variant (nonsense)	Myopathy, congenital, progressive, with scoliosis	GPathogenic
Select item 2312084	NM_001135254.2(PAX7):c.434G>T (p.Arg145Leu)	PAX7 (R145L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211046	NM_001135254.2(PAX7):c.434G>A (p.Arg145Gln)	PAX7 (R145Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329692	NM_001135254.2(PAX7):c.537C>A (p.Asp179Glu)	PAX7 (D177E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032259	NM_001135254.2(PAX7):c.579C>A (p.Gly193=)	PAX7	Single nucleotide variant (synonymous variant)	PAX7-related disorder	GLikely benign
Select item 1334959	NM_001135254.2(PAX7):c.587-8G>A	PAX7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2638403	NM_001135254.2(PAX7):c.588G>A (p.Gly196=)	PAX7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2314003	NM_001135254.2(PAX7):c.593G>T (p.Arg198Leu)	PAX7 (R196L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 981889	NM_001135254.2(PAX7):c.602A>G (p.Glu201Gly)	PAX7 (E199G +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 873482	NM_001135254.2(PAX7):c.644G>A (p.Arg215His)	PAX7 (R213H +1 more)	Single nucleotide variant (missense variant)	Myopathy, congenital, progressive, with scoliosis	GUncertain significance
Select item 2638404	NM_001135254.2(PAX7):c.651G>A (p.Gln217=)	PAX7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790806	NM_001135254.2(PAX7):c.654A>C (p.Arg218=)	PAX7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3030646	NM_001135254.2(PAX7):c.655C>T (p.Arg219Cys)	PAX7 (R217C +1 more)	Single nucleotide variant (missense variant)	PAX7-related disorder	GUncertain significance
Select item 2455683	NM_001135254.2(PAX7):c.679G>A (p.Glu227Lys)	PAX7 (E227K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360044	NM_001135254.2(PAX7):c.703G>A (p.Ala235Thr)	PAX7 (A235T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065455	NM_001135254.2(PAX7):c.739C>T (p.Arg247Cys)	PAX7 (R245C +1 more)	Single nucleotide variant (missense variant)	Myopathy, congenital, progressive, with scoliosis	GUncertain significance
Select item 790807	NM_001135254.2(PAX7):c.777G>A (p.Ala259=)	PAX7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 727192	NM_001135254.2(PAX7):c.807C>T (p.Arg269=)	PAX7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1326989	NM_001135254.2(PAX7):c.879A>G (p.Pro293=)	PAX7	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3038744	NM_001135254.2(PAX7):c.897G>A (p.Thr299=)	PAX7	Single nucleotide variant (synonymous variant)	PAX7-related disorder	GLikely benign
Select item 2490593	NM_001135254.2(PAX7):c.905C>A (p.Pro302His)	PAX7 (P302H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230201	NM_001135254.2(PAX7):c.907T>C (p.Tyr303His)	PAX7 (Y301H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638405	NM_001135254.2(PAX7):c.918G>A (p.Pro306=)	PAX7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1334960	NM_001135254.2(PAX7):c.920A>G (p.Asp307Gly)	PAX7 (D305G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3208988	NM_001135254.2(PAX7):c.956G>C (p.Gly319Ala)	PAX7 (G319A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031710	NM_001135254.2(PAX7):c.1011C>T (p.Gly337=)	PAX7	Single nucleotide variant (synonymous variant)	PAX7-related disorder	GLikely benign
Select item 1176185	NM_001135254.2(PAX7):c.1011C>A (p.Gly337=)	PAX7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3304476	NM_001135254.2(PAX7):c.1021G>A (p.Ala341Thr)	PAX7 (A339T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3028962	NM_001135254.2(PAX7):c.1155+3A>G	PAX7	Single nucleotide variant (intron variant)	PAX7-related disorder	GLikely benign
Select item 782362	NM_001135254.2(PAX7):c.1155+9T>C	PAX7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3035705	NM_001135254.2(PAX7):c.1185G>A (p.Ala395=)	PAX7	Single nucleotide variant (synonymous variant)	PAX7-related disorder	GLikely benign
Select item 3025013	NM_001135254.2(PAX7):c.1193C>T (p.Pro398Leu)	PAX7 (P396L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689660	NM_001135254.2(PAX7):c.1234G>A (p.Gly412Ser)	PAX7 (G410S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434581	NM_001135254.2(PAX7):c.1235G>A (p.Gly412Asp)	PAX7 (G410D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2488157	NM_001135254.2(PAX7):c.1255A>G (p.Ile419Val)	PAX7 (I419V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208984	NM_001135254.2(PAX7):c.1277G>C (p.Arg426Pro)	PAX7 (R426P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2683703	NM_001135254.2(PAX7):c.1375G>A (p.Gly459Ser)	PAX7 (G457S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2221375	NM_001135254.2(PAX7):c.1379A>G (p.Tyr460Cys)	PAX7 (Y460C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689661	NM_001135254.2(PAX7):c.1392G>C (p.Gln464His)	PAX7 (Q462H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3049706	NM_001135254.2(PAX7):c.1395C>T (p.Tyr465=)	PAX7	Single nucleotide variant (synonymous variant)	PAX7-related disorder	GLikely benign
Select item 2638406	NM_001135254.2(PAX7):c.1402+23G>A	PAX7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3054898	NM_001135254.2(PAX7):c.1402+29C>T	PAX7	Single nucleotide variant (synonymous variant +1 more)	PAX7-related disorder	GLikely benign
Select item 3208985	NM_001135254.2(PAX7):c.1402+58C>A	PAX7 (A487D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466716	NM_001135254.2(PAX7):c.1402+72A>G	PAX7 (M490V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2494620	NM_001135254.2(PAX7):c.1402+74G>A	PAX7 (M490I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 873483	NM_001135254.2(PAX7):c.1402+91T>G	PAX7 (V498G +1 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, congenital, progressive, with scoliosis	GUncertain significance
Select item 3208986	NM_001135254.2(PAX7):c.1402+106T>C	PAX7 (M501T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2628955	NM_001135254.2(PAX7):c.1440del (p.Thr481fs)	PAX7 (T481fs)	Deletion (frameshift variant)	PAX7-related disorder	GUncertain significance
Select item 3304475	NM_001135254.2(PAX7):c.1505G>T (p.Gly502Val)	PAX7 (G502V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151074	GRCh38/hg38 1p36.13(chr1:18747325-18894083)x3	ALDH4A1, LOC120893116 +3 more	Copy number gain	See cases	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685797	GRCh37/hg19 1p36.13(chr1:18127009-20315260)x3	ACTL8, AKR7A2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1340990	GRCh37/hg19 1p36.13(chr1:16773001-20221073)x1	ACTL8, AKR7A2 +38 more	Copy number loss	not provided	GPathogenic
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
Select item 980392	GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1	EMC1, EPHA2 +73 more	Copy number loss	not provided	GPathogenic
Select item 980391	GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1	AKR7A3, AKR7L +51 more	Copy number loss	not provided	GPathogenic
Select item 689123	GRCh37/hg19 1p36.13(chr1:18807170-19143482)x3	KLHDC7A, PAX7	Copy number gain	not provided	GUncertain significance
Select item 688089	GRCh37/hg19 1p36.13(chr1:18778080-19523646)x3	ALDH4A1, IFFO2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565081	GRCh37/hg19 1p36.13(chr1:18804103-19144178)x3	PAX7, KLHDC7A	Copy number gain	not provided	GUncertain significance
Select item 443113	GRCh37/hg19 1p36.13(chr1:18533280-19051005)x3	IGSF21, KLHDC7A +1 more	Copy number gain	See cases	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 95