3955[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 155108	GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3	ADAP1, AMZ1 +246 more	Copy number gain	See cases	GUncertain significance
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 154928	GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1	LOC126859917, LOC126859918 +245 more	Copy number loss	See cases	GPathogenic
Select item 147625	GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1	ADAP1, AMZ1 +246 more	Copy number loss	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 148752	GRCh38/hg38 7p22.3(chr7:1085248-2530644)x4	C7orf50, CHST12 +116 more	Copy number gain	See cases	GUncertain significance
Select item 147494	GRCh38/hg38 7p22.3(chr7:1330987-2530644)x1	CHST12, EIF3B +99 more	Copy number loss	See cases	GUncertain significance
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 155196	GRCh38/hg38 7p22.3(chr7:2031462-2653470)x3	BRAT1, CHST12 +63 more	Copy number gain	See cases	GLikely benign
Select item 151093	GRCh38/hg38 7p22.3(chr7:2469943-2566182)x3	BRAT1, GRIFIN +13 more	Copy number gain	See cases	GUncertain significance
Select item 1271837	NC_000007.14:g.2512229G>A	LFNG	Single nucleotide variant	not provided	GBenign
Select item 1209004	NC_000007.14:g.2512345G>C	LFNG	Single nucleotide variant	not provided	GLikely benign
Select item 1222276	NM_001166355.2(LFNG):c.47+46G>A	LFNG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1325938	NM_001166355.2(LFNG):c.47+83C>A	LFNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1320690	NM_001166355.2(LFNG):c.63G>C (p.Trp21Cys)	LFNG (W21C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1302816	NM_001166355.2(LFNG):c.139_140insGATG (p.Asp47delinsGlyTer)	LFNG	Insertion (nonsense)	not provided	GBenign
Select item 591286	NM_001166355.2(LFNG):c.163_166dup (p.Glu56delinsGlyTer)	LFNG	Microsatellite (nonsense)	not specified +1 more	GBenign
Select item 591987	NM_001166355.2(LFNG):c.159_166del (p.Trp53_Glu56delinsTer)	LFNG	Microsatellite (nonsense)	not provided	GUncertain significance
Select item 403030	NM_001166355.2(LFNG):c.163_166del (p.Asp55fs)	LFNG (D55fs)	Microsatellite (frameshift variant)	not specified +1 more	GBenign
Select item 2360156	NM_001166355.2(LFNG):c.203G>C (p.Gly68Ala)	LFNG (G68A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1224973	NM_001166355.2(LFNG):c.219+24A>C	LFNG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272909	NM_001166355.2(LFNG):c.219+68T>C	LFNG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178773	NM_001166355.2(LFNG):c.219+221G>A	LFNG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279690	NM_001166355.2(LFNG):c.219+261A>G	LFNG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2657231	NM_002304.3(LFNG):c.27G>T (p.Ala9=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1706904	NM_001040167.2(LFNG):c.-74C>G	LFNG, LOC129997822	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 731865	NM_001040167.2(LFNG):c.6C>A (p.Leu2=)	LFNG, LOC129997823	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2200744	NM_001040167.2(LFNG):c.10C>T (p.Arg4Cys)	LFNG, LOC129997823 (R4C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1515480	NM_001040167.2(LFNG):c.10C>G (p.Arg4Gly)	LFNG, LOC129997823 (R4G)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 747695	NM_001040167.2(LFNG):c.25C>T (p.Leu9=)	LFNG, LOC129997823	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1038450	NM_001040167.2(LFNG):c.37C>G (p.Leu13Val)	LFNG, LOC129997823 (L13V)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 3118425	NM_001040167.2(LFNG):c.41C>A (p.Ala14Glu)	LFNG, LOC129997823 (A14E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2047457	NM_001040167.2(LFNG):c.41C>G (p.Ala14Gly)	LFNG, LOC129997823 (A14G)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 1428674	NM_001040167.2(LFNG):c.46G>A (p.Ala16Thr)	LFNG, LOC129997823 (A16T)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 1090878	NM_001040167.2(LFNG):c.57C>T (p.Ala19=)	LFNG, LOC129997823	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1478316	NM_001040167.2(LFNG):c.67G>T (p.Val23Leu)	LFNG, LOC129997823 (V23L)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 1165699	NM_001040167.2(LFNG):c.75C>T (p.Thr25=)	LFNG, LOC129997823	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GBenign
Select item 500342	NM_001040167.2(LFNG):c.84GCC[4] (p.Pro32dup)	LOC129997823, LFNG	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2161843	NM_001040167.2(LFNG):c.84G>T (p.Pro28=)	LFNG, LOC129997823	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1943668	NM_001040167.2(LFNG):c.92C>T (p.Pro31Leu)	LFNG (P31L)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 1040157	NM_001040167.2(LFNG):c.100C>A (p.Pro34Thr)	LFNG (P34T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2017855	NM_001040167.2(LFNG):c.102C>G (p.Pro34=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1567819	NM_001040167.2(LFNG):c.105C>T (p.Ala35=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2143981	NM_001040167.2(LFNG):c.112G>T (p.Gly38Cys)	LFNG (G38C)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 3019985	NM_001040167.2(LFNG):c.123G>A (p.Ala41=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2010962	NM_001040167.2(LFNG):c.126G>A (p.Leu42=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1045090	NM_001040167.2(LFNG):c.131G>T (p.Ser44Ile)	LFNG (S44I)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 2068568	NM_001040167.2(LFNG):c.137C>T (p.Ala46Val)	LFNG (A46V)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 1417466	NM_001040167.2(LFNG):c.140G>A (p.Gly47Asp)	LFNG (G47D)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 2269918	NM_001040167.2(LFNG):c.155C>T (p.Ala52Val)	LFNG (A52V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1986583	NM_001040167.2(LFNG):c.157C>G (p.Pro53Ala)	LFNG (P53A)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive +1 more	GUncertain significance
Select item 2611323	NM_001040167.2(LFNG):c.158C>T (p.Pro53Leu)	LFNG (P53L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3118422	NM_001040167.2(LFNG):c.161C>A (p.Ala54Glu)	LFNG (A54E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2786608	NM_001040167.2(LFNG):c.183G>A (p.Ala61=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 591285	NM_001040167.2(LFNG):c.197_198delinsTT (p.Ala66Val)	LFNG (A66V)	Indel (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 1146188	NM_001040167.2(LFNG):c.213G>A (p.Val71=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2035397	NM_001040167.2(LFNG):c.216_217del (p.His72fs)	LFNG (H72fs)	Microsatellite (frameshift variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GPathogenic
Select item 1431247	NM_001040167.2(LFNG):c.214C>T (p.His72Tyr)	LFNG (H72Y)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 2552731	NM_001040167.2(LFNG):c.218G>A (p.Ser73Asn)	LFNG (S73N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3007549	NM_001040167.2(LFNG):c.222G>C (p.Leu74=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1531651	NM_001040167.2(LFNG):c.225C>A (p.Ser75=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2980133	NM_001040167.2(LFNG):c.234C>T (p.Phe78=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 3252458	NM_001040167.2(LFNG):c.236G>T (p.Ser79Ile)	LFNG (S79I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2116176	NM_001040167.2(LFNG):c.237C>T (p.Ser79=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1516852	NM_001040167.2(LFNG):c.245C>A (p.Thr82Asn)	LFNG (T82N)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 2050152	NM_001040167.2(LFNG):c.246C>T (p.Thr82=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 3118423	NM_001040167.2(LFNG):c.262G>A (p.Ala88Thr)	LFNG (A88T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1531436	NM_001040167.2(LFNG):c.264G>A (p.Ala88=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 850063	NM_001040167.2(LFNG):c.266G>T (p.Gly89Val)	LFNG (G89V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 547013	NM_001040167.2(LFNG):c.266G>A (p.Gly89Asp)	LFNG (G89D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2082399	NM_001040167.2(LFNG):c.271C>T (p.Pro91Ser)	LFNG (P91S)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive +1 more	GUncertain significance
Select item 1425475	NM_001040167.2(LFNG):c.284C>T (p.Ala95Val)	LFNG (A95V)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 1568087	NM_001040167.2(LFNG):c.285C>G (p.Ala95=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1389157	NM_001040167.2(LFNG):c.287C>G (p.Pro96Arg)	LFNG (P96R)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 3290500	NM_001040167.2(LFNG):c.289C>A (p.Arg97Ser)	LFNG (R97S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2728065	NM_001040167.2(LFNG):c.294C>T (p.Pro98=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1037213	NM_001040167.2(LFNG):c.295G>A (p.Ala99Thr)	LFNG (A99T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2099808	NM_001040167.2(LFNG):c.299A>T (p.Asp100Val)	LFNG (D100V)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 2956413	NM_001040167.2(LFNG):c.306C>T (p.His102=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 2153077	NM_001040167.2(LFNG):c.306C>A (p.His102Gln)	LFNG (H102Q)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 1018847	NM_001040167.2(LFNG):c.307C>G (p.Pro103Ala)	LFNG (P103A)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 1057386	NM_001040167.2(LFNG):c.308C>T (p.Pro103Leu)	LFNG (P103L)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 711473	NM_001040167.2(LFNG):c.312C>T (p.Arg104=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1543640	NM_001040167.2(LFNG):c.316C>T (p.Leu106=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 593371	NM_001040167.2(LFNG):c.327G>T (p.Pro109=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2075490	NM_001040167.2(LFNG):c.334C>A (p.Pro112Thr)	LFNG (P112T)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 739529	NM_001040167.2(LFNG):c.357C>G (p.Val119=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1900778	NM_001040167.2(LFNG):c.363C>T (p.Thr121=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign
Select item 1394653	NM_001040167.2(LFNG):c.368A>G (p.Lys123Arg)	LFNG (K123R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1478483	NM_001040167.2(LFNG):c.369A>C (p.Lys123Asn)	LFNG (K123N)	Single nucleotide variant (missense variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GUncertain significance
Select item 619140	NM_001040167.2(LFNG):c.372del (p.Lys124fs)	LFNG (K124fs)	Deletion (frameshift variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GPathogenic
Select item 2160078	NM_001040167.2(LFNG):c.393C>T (p.Asp131=)	LFNG	Single nucleotide variant (synonymous variant +1 more)	Spondylocostal dysostosis 3, autosomal recessive	GLikely benign

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