SP110[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	LOC126806566, LOC126806567 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	AGFG1, ALPG +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	ALPG, ALPI +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC129935973, LOC129935974 +576 more	Copy number gain	See cases	GPathogenic
Select item 145572	GRCh38/hg38 2q36.3-37.1(chr2:230086996-230385774)x1	LOC126806547, LOC129389006 +16 more	Copy number loss	See cases	GUncertain significance
Select item 369333	NM_080424.4(SP110):c.205_206A[4]TTAA[1]	SP110	Insertion (3 prime UTR variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GBenign
Select item 334886	NM_080424.4(SP110):c.*206del	SP110	Deletion (3 prime UTR variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 334887	NM_080424.4(SP110):c.*204A>T	SP110	Single nucleotide variant (3 prime UTR variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 898346	NM_080424.4(SP110):c.*203A>T	SP110	Single nucleotide variant (3 prime UTR variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 898347	NM_080424.4(SP110):c.*158C>A	SP110	Single nucleotide variant (3 prime UTR variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 334888	NM_080424.4(SP110):c.*82G>A	SP110	Single nucleotide variant (3 prime UTR variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 334889	NM_080424.4(SP110):c.2138C>G (p.Pro713Arg)	SP110 (P713R +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1037035	NM_080424.4(SP110):c.2135T>G (p.Leu712Arg)	SP110 (L738R +6 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 2957743	NM_080424.4(SP110):c.2127C>G (p.Phe709Leu)	SP110 (F715L +6 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 577709	NM_080424.4(SP110):c.2122G>C (p.Gly708Arg)	SP110 (G684R +6 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 334890	NM_080424.4(SP110):c.2122G>A (p.Gly708Ser)	SP110 (G684S +6 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 334891	NM_080424.4(SP110):c.2120G>A (p.Gly707Asp)	SP110 (G707D +6 more)	Single nucleotide variant (missense variant)	Mycobacterium tuberculosis, susceptibility to +1 more	GUncertain significance
Select item 936093	NM_080424.4(SP110):c.2119G>T (p.Gly707Cys)	SP110 (G739C +6 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 761007	NM_080424.4(SP110):c.2118C>T (p.Asp706=)	SP110	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2173074	NM_080424.4(SP110):c.2116G>A (p.Asp706Asn)	SP110 (D641N +6 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1409319	NM_080424.4(SP110):c.2114A>G (p.Asn705Ser)	SP110 (N681S +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1119032	NM_080424.4(SP110):c.2112C>T (p.Ala704=)	SP110	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2131618	NM_080424.4(SP110):c.2106T>C (p.His702=)	SP110	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 750607	NM_080424.4(SP110):c.2100T>C (p.Gly700=)	SP110	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome +1 more	GLikely benign
Select item 1024999	NM_080424.4(SP110):c.2099G>A (p.Gly700Asp)	SP110 (G635D +6 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 960110	NM_080424.4(SP110):c.2098G>A (p.Gly700Ser)	SP110 (G682S +6 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 2421430	NM_080424.4(SP110):c.2097C>T (p.Leu699=)	SP110	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2226616	NM_080424.4(SP110):c.2095C>T (p.Leu699Phe)	SP110 (L634F +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 662821	NM_080424.4(SP110):c.2092G>A (p.Val698Met)	SP110 (V674M +6 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1546056	NM_080424.4(SP110):c.2091C>T (p.Asp697=)	SP110	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 652037	NM_080424.4(SP110):c.2086A>G (p.Lys696Glu)	SP110 (K696E +6 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1466175	NM_080424.4(SP110):c.2079dup (p.Asp694fs)	SP110 (D700fs +6 more)	Duplication (frameshift variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 2130907	NM_080424.4(SP110):c.2075A>G (p.Glu692Gly)	SP110 (E668G +6 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 2105256	NM_080424.4(SP110):c.2072T>C (p.Phe691Ser)	SP110 (F667S +6 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 747809	NM_080424.4(SP110):c.2061A>G (p.Leu687=)	SP110	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2090926	NM_080424.4(SP110):c.2059T>G (p.Leu687Val)	SP110 (L622V +6 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 334892	NM_080424.4(SP110):c.2054T>C (p.Leu685Pro)	SP110 (L685P +6 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 2179434	NM_080424.4(SP110):c.2041G>C (p.Gly681Arg)	SP110 (G687R +6 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1478693	NM_080424.4(SP110):c.2038T>C (p.Phe680Leu)	SP110 (F615L +6 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 334893	NM_080424.4(SP110):c.2029-7_2029-6del	SP110	Microsatellite (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GConflicting classifications of pathogenicity
Select item 1580731	NM_080424.4(SP110):c.2029-18T>G	SP110	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 1387057	NM_080424.4(SP110):c.2028+1G>A	SP110	Single nucleotide variant (intron variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1921046	NM_080424.4(SP110):c.2026A>G (p.Lys676Glu)	SP110 (K702E +5 more)	Single nucleotide variant (missense variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 850563	NM_080424.4(SP110):c.2014A>T (p.Lys672Ter)	SP110 (K672* +5 more)	Single nucleotide variant (nonsense +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 2201107	NM_080424.4(SP110):c.2012A>G (p.His671Arg)	SP110 (H677R +5 more)	Single nucleotide variant (missense variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 785725	NM_080424.4(SP110):c.2006G>A (p.Arg669His)	SP110 (R645H +5 more)	Single nucleotide variant (missense variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GBenign
Select item 895364	NM_080424.4(SP110):c.2005C>T (p.Arg669Cys)	SP110 (R669C +5 more)	Single nucleotide variant (missense variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1383586	NM_080424.4(SP110):c.1993C>A (p.Arg665Ser)	SP110 (R665S +5 more)	Single nucleotide variant (missense variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1395740	NM_080424.4(SP110):c.1991T>C (p.Met664Thr)	SP110 (M646T +5 more)	Single nucleotide variant (missense variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 895365	NM_080424.4(SP110):c.1988A>C (p.Asp663Ala)	SP110 (D645A +5 more)	Single nucleotide variant (missense variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 895366	NM_080424.4(SP110):c.1985G>A (p.Arg662Gln)	SP110 (R644Q +5 more)	Single nucleotide variant (missense variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome +1 more	GUncertain significance
Select item 1325112	NM_080424.4(SP110):c.1984C>T (p.Arg662Ter)	SP110 (R638* +5 more)	Single nucleotide variant (nonsense +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GConflicting classifications of pathogenicity
Select item 710419	NM_080424.4(SP110):c.1974A>G (p.Ala658=)	SP110	Single nucleotide variant (synonymous variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 747020	NM_080424.4(SP110):c.1968G>A (p.Thr656=)	SP110	Single nucleotide variant (synonymous variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2986380	NM_080424.4(SP110):c.1965C>T (p.Tyr655=)	SP110	Single nucleotide variant (synonymous variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 1922415	NM_080424.4(SP110):c.1959A>G (p.Glu653=)	SP110	Single nucleotide variant (synonymous variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 1168473	NM_080424.4(SP110):c.1956G>A (p.Thr652=)	SP110	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 660055	NM_080424.4(SP110):c.1955C>T (p.Thr652Met)	SP110 (T628M +5 more)	Single nucleotide variant (missense variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 895367	NM_080424.4(SP110):c.1939A>G (p.Lys647Glu)	SP110 (K623E +5 more)	Single nucleotide variant (missense variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1451662	NM_080424.4(SP110):c.1933del (p.Leu645fs)	SP110 (L645fs +5 more)	Deletion (frameshift variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GPathogenic
Select item 334894	NM_080424.4(SP110):c.1928T>G (p.Leu643Trp)	SP110 (L643W +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 334895	NM_080424.4(SP110):c.1905G>C (p.Glu635Asp)	SP110 (E635D +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1953568	NM_080424.4(SP110):c.1902T>C (p.Gly634=)	SP110	Single nucleotide variant (synonymous variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 1511285	NM_080424.4(SP110):c.1900G>C (p.Gly634Arg)	SP110 (G616R +5 more)	Single nucleotide variant (missense variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 849959	NM_080424.4(SP110):c.1900G>A (p.Gly634Ser)	SP110 (G610S +5 more)	Single nucleotide variant (missense variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1099659	NM_080424.4(SP110):c.1899C>T (p.Tyr633=)	SP110	Single nucleotide variant (synonymous variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 1410756	NM_080424.4(SP110):c.1892G>C (p.Arg631Pro)	SP110 (R607P +5 more)	Single nucleotide variant (missense variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1028771	NM_080424.4(SP110):c.1891C>T (p.Arg631Ter)	SP110 (R607* +5 more)	Single nucleotide variant (nonsense +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GPathogenic/Likely pathogenic
Select item 2852086	NM_080424.4(SP110):c.1888-2A>G	SP110	Single nucleotide variant (intron variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely pathogenic
Select item 1529282	NM_080424.4(SP110):c.1888-4del	SP110	Deletion (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2769436	NM_080424.4(SP110):c.1888-17G>A	SP110	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2914035	NM_080424.4(SP110):c.1888-22CT[3]	SP110	Microsatellite (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 3064712	NM_080424.4(SP110):c.1816-1G>C	SP110	Single nucleotide variant (intron variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely pathogenic
Select item 1652758	NM_080424.4(SP110):c.1815+20C>G	SP110	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 1617123	NM_080424.4(SP110):c.1815+20C>T	SP110	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GBenign
Select item 1129070	NM_080424.4(SP110):c.1815+17C>T	SP110	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 334896	NM_080424.4(SP110):c.1815+14A>G	SP110	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2776162	NM_080424.4(SP110):c.1815+11T>A	SP110	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2816544	NM_080424.4(SP110):c.1815+5_1815+6del	SP110	Deletion (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1435218	NM_080424.4(SP110):c.1815+4A>T	SP110	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 2912202	NM_080424.4(SP110):c.1794G>A (p.Gln598=)	SP110	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2122685	NM_080424.4(SP110):c.1784T>G (p.Leu595Arg)	SP110 (L392R +2 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1626078	NM_080424.4(SP110):c.1782C>A (p.Thr594=)	SP110	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 1458064	NM_080424.4(SP110):c.1775_1778del (p.Val591_Ser592insTer)	SP110	Deletion (nonsense)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GPathogenic
Select item 2651990	NM_080424.4(SP110):c.1773A>G (p.Val591=)	SP110	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788091	NM_080424.4(SP110):c.1770T>C (p.His590=)	SP110	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2433685	NM_080424.4(SP110):c.1766_1767del (p.His589fs)	SP110 (H589fs +1 more)	Deletion (frameshift variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely pathogenic
Select item 841337	NM_080424.4(SP110):c.1766A>T (p.His589Leu)	SP110 (H589L +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1387962	NM_080424.4(SP110):c.1760A>G (p.Gln587Arg)	SP110 (Q593R +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1362748	NM_080424.4(SP110):c.1757A>G (p.Gln586Arg)	SP110 (Q586R +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 2098193	NM_080424.4(SP110):c.1751G>A (p.Gly584Glu)	SP110 (G381E +2 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 794853	NM_080424.4(SP110):c.1749A>C (p.Ser583=)	SP110	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 334897	NM_080424.4(SP110):c.1737G>A (p.Met579Ile)	SP110 (M579I +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome +1 more	GBenign

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