Related gene-specific medical variations for Gene (Select 11262) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3167865	NM_080424.4(SP110):c.721A>G (p.Met241Val)	SP110, SP140 (M247V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167864	NM_080424.4(SP110):c.652A>G (p.Thr218Ala)	SP110, SP140 (T218A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3044867	NC_000002.12:g.230221724C>A	SP110, SP140	Single nucleotide variant (5 prime UTR variant)	SP110-related disorder	GLikely benign
Select item 3007630	NM_080424.4(SP110):c.500A>G (p.Asp167Gly)	SP110, SP140 (D167G +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
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 2977403	NM_080424.4(SP110):c.316+8G>A	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2971400	NM_080424.4(SP110):c.21C>T (p.Ala7=)	SP110, SP140	Single nucleotide variant (synonymous 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 2918307	NM_080424.4(SP110):c.459G>T (p.Ala153=)	SP110, SP140	Single nucleotide variant (synonymous variant)	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 2900202	NM_080424.4(SP110):c.317-16C>T	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
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 2877568	NM_080424.4(SP110):c.507C>T (p.Ile169=)	SP110, SP140	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2859071	NM_080424.4(SP110):c.222G>A (p.Arg74=)	SP110, SP140	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2852593	NM_080424.4(SP110):c.138A>G (p.Arg46=)	SP110, SP140	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
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 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 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 2819031	NM_080424.4(SP110):c.80dup (p.His28fs)	SP110, SP140 (H34fs +1 more)	Duplication (frameshift variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GPathogenic
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 2816180	NM_080424.4(SP110):c.299del (p.Tyr100fs)	SP110, SP140 (Y100fs +1 more)	Deletion (frameshift variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GPathogenic
Select item 2790717	NM_080424.4(SP110):c.668-16_668-15del	SP110, SP140	Deletion (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2789655	NM_080424.4(SP110):c.606C>A (p.Ser202=)	SP110, SP140	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2771566	NM_080424.4(SP110):c.668-17T>A	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2770759	NM_080424.4(SP110):c.867A>G (p.Lys289=)	SP110, SP140	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2764472	NM_080424.4(SP110):c.357C>A (p.Ile119=)	SP110, SP140	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2754915	NM_080424.4(SP110):c.318T>G (p.Val106=)	SP110, SP140	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
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 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 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 2731454	NM_080424.4(SP110):c.317-15C>A	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2688166	NM_080424.4(SP110):c.147+91A>G	LOC129935748, SP110 +1 more	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688115	NM_080424.4(SP110):c.583+116T>C	SP110, SP140	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2651991	NM_080424.4(SP110):c.455G>A (p.Cys152Tyr)	SP110, SP140 (C152Y +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 2595228	NM_080424.4(SP110):c.313C>T (p.Arg105Cys)	SP110, SP140 (R105C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2445889	NM_080424.4(SP110):c.3G>A (p.Met1Ile)	SP110, SP140 (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2279850	NM_080424.4(SP110):c.54C>G (p.His18Gln)	SP110, SP140 (H18Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242268	NM_080424.4(SP110):c.398T>C (p.Leu133Pro)	SP110, SP140 (L139P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236391	NM_080424.4(SP110):c.256A>G (p.Ser86Gly)	SP110, SP140 (S86G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2199312	NM_080424.4(SP110):c.272G>A (p.Arg91His)	SP110, SP140 (R91H +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 2197768	NM_080424.4(SP110):c.186C>T (p.Ser62=)	SP110, SP140	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2184618	NM_080424.4(SP110):c.671C>T (p.Ala224Val)	SP110, SP140 (A230V +1 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 2117279	NM_080424.4(SP110):c.473A>G (p.Glu158Gly)	SP110, SP140 (E164G +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 2113127	NM_080424.4(SP110):c.470G>C (p.Ser157Thr)	SP110, SP140 (S163T +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 2104531	NM_080424.4(SP110):c.150A>G (p.Glu50=)	SP110, SP140	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2102537	NM_080424.4(SP110):c.8C>T (p.Thr3Ile)	SP110, SP140 (T3I +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	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 2096961	NM_080424.4(SP110):c.584-18T>C	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2094099	NM_080424.4(SP110):c.432C>A (p.Pro144=)	SP110, SP140	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2088926	NM_080424.4(SP110):c.420C>T (p.Pro140=)	SP110, SP140	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2072238	NM_080424.4(SP110):c.719A>G (p.Glu240Gly)	SP110, SP140 (E240G +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 2071323	NM_080424.4(SP110):c.583+3G>A	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome +1 more	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 2063298	NM_080424.4(SP110):c.316+19T>C	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2056313	NM_080424.4(SP110):c.470G>A (p.Ser157Asn)	SP110, SP140 (S157N +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
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 2040105	NM_080424.4(SP110):c.669G>A (p.Val223=)	SP110, SP140	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 2038260	NM_080424.4(SP110):c.802G>T (p.Val268Leu)	SP140, SP110 (V274L +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 2024159	NM_080424.4(SP110):c.463A>T (p.Arg155Ter)	SP110, SP140 (R155* +1 more)	Single nucleotide variant (nonsense)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GPathogenic
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 2011009	NM_080424.4(SP110):c.830-20del	SP110, SP140	Deletion (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GBenign
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 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 1988103	NM_080424.4(SP110):c.404C>T (p.Thr135Ile)	SP110, SP140 (T135I +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1985189	NM_080424.4(SP110):c.662T>C (p.Val221Ala)	SP110, SP140 (V227A +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1982075	NM_080424.4(SP110):c.665A>G (p.Gln222Arg)	SP110, SP140 (Q228R +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1981843	NM_080424.4(SP110):c.667+14G>T	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 1979517	NM_080424.4(SP110):c.148-3T>C	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1958950	NM_080424.4(SP110):c.348C>T (p.Asp116=)	SP110, SP140	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 1957812	NM_080424.4(SP110):c.42G>A (p.Gln14=)	SP110, SP140	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
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
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 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 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 1917646	NM_080424.4(SP110):c.374C>G (p.Thr125Ser)	SP110, SP140 (T125S +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
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 1911078	NM_080424.4(SP110):c.646C>G (p.Leu216Val)	SP110, SP140 (L222V +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1898288	NM_080424.4(SP110):c.441A>G (p.Pro147=)	SP110, SP140	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 1716830	NM_080424.4(SP110):c.26A>G (p.Glu9Gly)	SP110, SP140 (E15G +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 1675136	NM_080424.4(SP110):c.644G>T (p.Ser215Ile)	SP110, SP140 (S215I +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome +1 more	GUncertain significance
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 1624881	NM_080424.4(SP110):c.583+16C>T	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
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 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 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 1617028	NM_080424.4(SP110):c.75T>C (p.Tyr25=)	SP110, SP140	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 1600693	NM_080424.4(SP110):c.351A>G (p.Thr117=)	SP140, SP110	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GBenign
Select item 1596299	NM_080424.4(SP110):c.147+17C>A	LOC129935748, SP110 +1 more	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 1595506	NM_080424.4(SP110):c.417G>A (p.Leu139=)	SP110, SP140	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
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 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 1563172	NM_080424.4(SP110):c.261A>G (p.Gln87=)	SP110, SP140	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 1561190	NM_080424.4(SP110):c.583+19C>A	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign

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