ClinVar for Gene (Select 11262) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321693	NM_007237.5(SP140):c.292G>A (p.Val98Ile)	SP140 (V98I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321692	NM_007237.5(SP140):c.840A>T (p.Lys280Asn)	SP140 (K254N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321691	NM_007237.5(SP140):c.682A>G (p.Ile228Val)	SP140 (I225V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321690	NM_007237.5(SP140):c.762G>A (p.Met254Ile)	SP140 (M228I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321689	NM_007237.5(SP140):c.2095G>C (p.Gly699Arg)	SP140 (G585R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321688	NM_007237.5(SP140):c.47A>G (p.Asn16Ser)	SP140 (N16S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321687	NM_007237.5(SP140):c.46A>G (p.Asn16Asp)	SP140 (N16D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3321686	NM_007237.5(SP140):c.614C>T (p.Ala205Val)	SP140 (A205V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321685	NM_007237.5(SP140):c.1933C>T (p.Arg645Cys)	SP140 (R531C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321683	NM_007237.5(SP140):c.1990C>T (p.Pro664Ser)	SP140 (P664S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167881	NM_007237.5(SP140):c.793C>G (p.Pro265Ala)	SP140 (P265A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167880	NM_007237.5(SP140):c.362T>C (p.Met121Thr)	SP140 (M121T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167878	NM_007237.5(SP140):c.324G>T (p.Trp108Cys)	SP140 (W108C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167877	NM_007237.5(SP140):c.293T>C (p.Val98Ala)	SP140 (V98A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167876	NM_007237.5(SP140):c.28A>T (p.Met10Leu)	SP140 (M10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167875	NM_007237.5(SP140):c.1942G>A (p.Gly648Arg)	SP140 (G534R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167874	NM_007237.5(SP140):c.1900C>T (p.His634Tyr)	SP140 (H520Y +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3167873	NM_007237.5(SP140):c.1840T>C (p.Cys614Arg)	SP140 (C587R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167872	NM_007237.5(SP140):c.1789G>A (p.Val597Met)	SP140 (V537M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167871	NM_007237.5(SP140):c.1712G>T (p.Arg571Leu)	SP140 (R511L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167870	NM_007237.5(SP140):c.1705A>G (p.Arg569Gly)	SP140 (R509G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167869	NM_007237.5(SP140):c.1678A>T (p.Thr560Ser)	SP140 (T533S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167868	NM_007237.5(SP140):c.1594T>G (p.Ser532Ala)	SP140 (S532A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167867	NM_007237.5(SP140):c.1393C>T (p.Pro465Ser)	SP140 (P351S +3 more)	Single nucleotide variant (missense variant)	not specified	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 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 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3044867	NM_001185015.2(SP110):c.-3G>T	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=)	SP140, SP110	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 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 2651991	NM_080424.4(SP110):c.455G>A (p.Cys152Tyr)	SP140, SP110 (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 2591495	NM_007237.5(SP140):c.2363T>C (p.Ile788Thr)	SP140 (I761T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591270	NM_007237.5(SP140):c.1130A>G (p.Glu377Gly)	SP140 (E377G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2547222	NM_007237.5(SP140):c.1642A>G (p.Arg548Gly)	SP140 (R488G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542731	NM_007237.5(SP140):c.1052G>T (p.Gly351Val)	SP140 (G325V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538502	NM_007237.5(SP140):c.1850C>T (p.Thr617Ile)	SP140 (T557I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533944	NM_007237.5(SP140):c.1610C>A (p.Ala537Glu)	SP140 (A423E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531548	NM_007237.5(SP140):c.998A>G (p.Glu333Gly)	SP140 (E307G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514231	NM_007237.5(SP140):c.469T>A (p.Leu157Ile)	SP140 (L157I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510770	NM_007237.5(SP140):c.545T>G (p.Leu182Trp)	SP140 (L182W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510229	NM_007237.5(SP140):c.442G>T (p.Val148Leu)	SP140 (V148L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494591	NM_007237.5(SP140):c.2024T>C (p.Leu675Pro)	SP140 (L615P +3 more)	Single nucleotide variant (missense variant)	not specified	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 2406542	NM_007237.5(SP140):c.1474T>A (p.Leu492Met)	SP140 (L465M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388208	NM_007237.5(SP140):c.2370G>C (p.Glu790Asp)	SP140 (E676D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376057	NM_007237.5(SP140):c.1673G>A (p.Arg558His)	SP140 (R531H +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2338323	NM_007237.5(SP140):c.1415C>T (p.Thr472Met)	SP140 (T358M +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2329288	NM_007237.5(SP140):c.1002G>A (p.Met334Ile)	SP140 (M308I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281694	NM_007237.5(SP140):c.1942G>T (p.Gly648Trp)	SP140 (G534W +3 more)	Single nucleotide variant (missense variant)	not specified	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 2277753	NM_007237.5(SP140):c.757G>A (p.Gly253Arg)	SP140 (G253R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2262699	NM_007237.5(SP140):c.1496G>A (p.Arg499Lys)	SP140 (R472K +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2252192	NM_007237.5(SP140):c.1305C>A (p.Ser435Arg)	SP140 (S408R +3 more)	Single nucleotide variant (missense variant)	not specified	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 2232965	NM_007237.5(SP140):c.1264C>A (p.Pro422Thr)	SP140 (P422T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229627	NM_007237.5(SP140):c.424C>T (p.Pro142Ser)	SP140 (P142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227777	NM_007237.5(SP140):c.209G>A (p.Arg70His)	SP140 (R70H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222169	NM_007237.5(SP140):c.1934G>A (p.Arg645His)	SP140 (R531H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217807	NM_007237.5(SP140):c.2389G>A (p.Glu797Lys)	SP140 (E737K +3 more)	Single nucleotide variant (missense variant)	not specified	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

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