SP140[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	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	CCL20, CHRND +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	LOC126806558, LOC126806559 +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +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 2017342	NM_080424.4(SP110):c.1130-10T>C	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 898426	NM_080424.4(SP110):c.1130-11A>G	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GBenign
Select item 2746523	NM_080424.4(SP110):c.1130-12T>C	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 1515198	NM_080424.4(SP110):c.1130-16A>G	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 2818000	NM_080424.4(SP110):c.1129+18C>A	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2048136	NM_080424.4(SP110):c.1129+16T>C	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 1564584	NM_080424.4(SP110):c.1129+9T>G	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2958393	NM_080424.4(SP110):c.1129+7C>T	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2436267	NM_080424.4(SP110):c.1129+4A>G	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1921741	NM_080424.4(SP110):c.1126C>G (p.Gln376Glu)	SP110, SP140 (Q326E +2 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1071115	NM_080424.4(SP110):c.1116_1119del (p.Arg373fs)	SP110, SP140 (R323fs +2 more)	Deletion (frameshift variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GPathogenic/Likely pathogenic
Select item 1054649	NM_080424.4(SP110):c.1115G>A (p.Arg372Gln)	SP110, SP140 (R322Q +2 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1323637	NM_080424.4(SP110):c.1114C>T (p.Arg372Ter)	SP140, SP110 (R322* +2 more)	Single nucleotide variant (nonsense)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GPathogenic
Select item 1384139	NM_080424.4(SP110):c.1106G>C (p.Ser369Thr)	SP110, SP140 (S369T +2 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1489148	NM_080424.4(SP110):c.1102C>G (p.Pro368Ala)	SP110, SP140 (P368A +2 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1103976	NM_080424.4(SP110):c.1101G>A (p.Thr367=)	SP110, SP140	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 235324	NM_080424.4(SP110):c.1100C>T (p.Thr367Met)	SP110, SP140 (T367M +2 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome +1 more	GBenign/Likely benign
Select item 1531372	NM_080424.4(SP110):c.1092C>T (p.Ser364=)	SP110, SP140	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 573230	NM_080424.4(SP110):c.1091_1092delinsAT (p.Ser364Tyr)	SP110, SP140 (S370Y +2 more)	Indel (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 2745495	NM_080424.4(SP110):c.1090T>C (p.Ser364Pro)	SP110, SP140 (S364P +2 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 2155154	NM_080424.4(SP110):c.1067C>A (p.Ser356Ter)	SP110, SP140 (S356* +2 more)	Single nucleotide variant (nonsense)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GPathogenic
Select item 1357677	NM_080424.4(SP110):c.1067C>T (p.Ser356Leu)	SP110, SP140 (S356L +2 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 761633	NM_080424.4(SP110):c.1056T>C (p.Ile352=)	SP110, SP140	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 1376222	NM_080424.4(SP110):c.1054A>G (p.Ile352Val)	SP140, SP110 (I302V +2 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome +1 more	GUncertain significance
Select item 2100212	NM_080424.4(SP110):c.1052T>C (p.Ile351Thr)	SP110, SP140 (I301T +2 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 2070862	NM_080424.4(SP110):c.1049-8T>C	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 1921709	NM_080424.4(SP110):c.1049-16A>T	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 1654388	NM_080424.4(SP110):c.1048+16G>C	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 1979579	NM_080424.4(SP110):c.1048+9G>A	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 992484	NM_080424.4(SP110):c.1020_1043dup (p.Cys342_Glu349dup)	SP110, SP140	Duplication (inframe_insertion +1 more)	Mycobacterium tuberculosis, susceptibility to +1 more	GUncertain significance
Select item 1619617	NM_080424.4(SP110):c.1038G>A (p.Ser346=)	SP110, SP140	Single nucleotide variant (synonymous variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 334907	NM_080424.4(SP110):c.1038G>C (p.Ser346=)	SP110, SP140	Single nucleotide variant (synonymous variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GBenign
Select item 660168	NM_080424.4(SP110):c.1037C>T (p.Ser346Leu)	SP110, SP140 (S346L +1 more)	Single nucleotide variant (missense variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1363199	NM_080424.4(SP110):c.1031G>A (p.Arg344Gln)	SP110, SP140 (R344Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1064210	NM_080424.4(SP110):c.1031G>C (p.Arg344Pro)	SP110, SP140 (R344P +1 more)	Single nucleotide variant (missense variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 840660	NM_080424.4(SP110):c.1030C>T (p.Arg344Ter)	SP110, SP140 (R344* +1 more)	Single nucleotide variant (nonsense +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GPathogenic
Select item 2488786	NM_080424.4(SP110):c.1023A>T (p.Glu341Asp)	SP110, SP140 (E341D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1397784	NM_080424.4(SP110):c.1019C>T (p.Thr340Ile)	SP110, SP140 (T346I +1 more)	Single nucleotide variant (missense variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 898427	NM_080424.4(SP110):c.989C>T (p.Thr330Met)	SP110, SP140 (T336M +1 more)	Single nucleotide variant (missense variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GBenign/Likely benign
Select item 1092403	NM_080424.4(SP110):c.981T>C (p.Cys327=)	SP110, SP140	Single nucleotide variant (synonymous variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 712960	NM_080424.4(SP110):c.978T>G (p.Thr326=)	SP110, SP140	Single nucleotide variant (synonymous variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GBenign
Select item 661665	NM_080424.4(SP110):c.952G>C (p.Val318Leu)	SP140, SP110 (V324L +1 more)	Single nucleotide variant (missense variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 2897348	NM_080424.4(SP110):c.943del (p.Val315fs)	SP110, SP140 (V315fs +1 more)	Deletion (frameshift variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GPathogenic
Select item 534649	NM_080424.4(SP110):c.938A>G (p.Lys313Arg)	SP110, SP140 (K313R +1 more)	Single nucleotide variant (missense variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 534647	NM_080424.4(SP110):c.934C>G (p.Leu312Val)	SP110, SP140 (L312V +1 more)	Single nucleotide variant (missense variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1485219	NM_080424.4(SP110):c.933G>C (p.Lys311Asn)	SP110, SP140 (K311N +1 more)	Single nucleotide variant (missense variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 567478	NM_080424.4(SP110):c.929A>C (p.Lys310Thr)	SP110, SP140 (K310T +1 more)	Single nucleotide variant (missense variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome +1 more	GUncertain significance
Select item 1620175	NM_080424.4(SP110):c.927A>G (p.Gln309=)	SP110, SP140	Single nucleotide variant (synonymous variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2913542	NM_080424.4(SP110):c.918C>T (p.His306=)	SP110, SP140	Single nucleotide variant (synonymous variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 1036082	NM_080424.4(SP110):c.911C>T (p.Ser304Phe)	SP110, SP140 (S310F +1 more)	Single nucleotide variant (missense variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 2614177	NM_080424.4(SP110):c.901A>G (p.Thr301Ala)	SP110, SP140 (T307A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 334908	NM_080424.4(SP110):c.900G>A (p.Gly300=)	SP110, SP140	Single nucleotide variant (synonymous variant +1 more)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 969975	NM_080424.4(SP110):c.899-3C>T	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1921976	NM_080424.4(SP110):c.898+19A>G	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 895434	NM_080424.4(SP110):c.898+14A>G	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GConflicting classifications of pathogenicity
Select item 1305955	NM_080424.4(SP110):c.898+1G>A	SP110, SP140	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 334909	NM_080424.4(SP110):c.895G>A (p.Gly299Arg)	SP110, SP140 (G299R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1912459	NM_080424.4(SP110):c.886del (p.Ser296fs)	SP110, SP140 (S302fs +1 more)	Deletion (frameshift variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GPathogenic
Select item 2002582	NM_080424.4(SP110):c.880A>G (p.Lys294Glu)	SP110, SP140 (K300E +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 859775	NM_080424.4(SP110):c.877A>G (p.Lys293Glu)	SP110, SP140 (K299E +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 189244	NM_080424.4(SP110):c.877A>T (p.Lys293Ter)	SP110, SP140 (K293* +1 more)	Single nucleotide variant (nonsense)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely pathogenic
Select item 2770759	NM_080424.4(SP110):c.867A>G (p.Lys289=)	SP140, SP110	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 1018661	NM_080424.4(SP110):c.848G>T (p.Cys283Phe)	SP110, SP140 (C283F +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 895435	NM_080424.4(SP110):c.848G>C (p.Cys283Ser)	SP110, SP140 (C283S +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 660366	NM_080424.4(SP110):c.842A>G (p.Lys281Arg)	SP110, SP140 (K281R +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 3167866	NM_080424.4(SP110):c.832A>C (p.Lys278Gln)	SP110, SP140 (K278Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2823654	NM_080424.4(SP110):c.832A>G (p.Lys278Glu)	SP110, SP140 (K278E +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 2745828	NM_080424.4(SP110):c.830-12C>A	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2011009	NM_080424.4(SP110):c.830-20del	SP110, SP140	Deletion (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GBenign
Select item 895436	NM_080424.4(SP110):c.829+15T>C	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GConflicting classifications of pathogenicity
Select item 2842937	NM_080424.4(SP110):c.829+14T>C	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 895437	NM_080424.4(SP110):c.829+10G>A	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1045941	NM_080424.4(SP110):c.826A>G (p.Lys276Glu)	SP140, SP110 (K282E +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1993979	NM_080424.4(SP110):c.814C>A (p.Pro272Thr)	SP110, SP140 (P272T +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 2038260	NM_080424.4(SP110):c.802G>T (p.Val268Leu)	SP110, SP140 (V274L +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1594973	NM_080424.4(SP110):c.780T>C (p.Asn260=)	SP110, SP140	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2604978	NM_080424.4(SP110):c.753G>C (p.Glu251Asp)	SP110, SP140 (E251D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 5540	NM_080424.4(SP110):c.752-483C>T	SP110, SP140	Single nucleotide variant (intron variant)	Mycobacterium tuberculosis, susceptibility to	GUncertain significance
Select item 1620278	NM_080424.4(SP110):c.751+19A>T	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 1153939	NM_080424.4(SP110):c.751+19A>G	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 3001805	NM_080424.4(SP110):c.751+16T>G	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2825210	NM_080424.4(SP110):c.751+12_751+16del	SP110, SP140	Microsatellite (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 1081701	NM_080424.4(SP110):c.751+9G>T	SP140, SP110	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 1420912	NM_080424.4(SP110):c.750_751delinsCC (p.Glu251Gln)	SP110, SP140 (E251Q +1 more)	Indel (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 942188	NM_080424.4(SP110):c.751G>C (p.Glu251Gln)	SP140, SP110 (E251Q +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 712934	NM_080424.4(SP110):c.745A>G (p.Met249Val)	SP110, SP140 (M255V +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GBenign
Select item 1461102	NM_080424.4(SP110):c.740G>A (p.Gly247Asp)	SP110, SP140 (G253D +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1929243	NM_080424.4(SP110):c.728A>G (p.His243Arg)	SP110, SP140 (H249R +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance

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