ClinVar for Gene (Select 3431) - 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 3167863	NM_080424.4(SP110):c.1384T>C (p.Ser462Pro)	SP110 (S462P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3167862	NM_080424.4(SP110):c.1194G>C (p.Arg398Ser)	SP110 (R398S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
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 3050687	NM_080424.4(SP110):c.1176G>A (p.Val392=)	SP110	Single nucleotide variant (synonymous variant)	SP110-related disorder	GLikely benign
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 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 2982529	NM_080424.4(SP110):c.1349-2A>T	SP110	Single nucleotide variant (splice acceptor variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely pathogenic
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 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 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 2914641	NM_080424.4(SP110):c.1707-14G>T	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 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 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 2905913	NM_080424.4(SP110):c.1653T>C (p.Thr551=)	SP110	Single nucleotide variant (synonymous variant)	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 2885728	NM_080424.4(SP110):c.1341C>T (p.His447=)	SP110	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
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 2868891	NM_080424.4(SP110):c.1590+20G>C	SP110	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2862975	NM_080424.4(SP110):c.1706+11T>G	SP110	Single nucleotide variant (intron 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 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 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 2823038	NM_080424.4(SP110):c.1283A>G (p.Lys428Arg)	SP110 (K378R +2 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 2816544	NM_080424.4(SP110):c.1815+5_1815+6del	SP110	Deletion (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
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 2809605	NM_080424.4(SP110):c.1349-18G>T	SP110	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign
Select item 2800835	NM_080424.4(SP110):c.1130-1G>C	SP110	Single nucleotide variant (splice acceptor variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely pathogenic
Select item 2798950	NM_080424.4(SP110):c.1675G>A (p.Asp559Asn)	SP110 (D559N +2 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
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 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 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 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 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 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 2745456	NM_080424.4(SP110):c.1408G>A (p.Glu470Lys)	SP110 (E470K +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 2712824	NM_080424.4(SP110):c.1660C>G (p.Arg554Gly)	SP110 (R554G +2 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
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)	SP110, SP140 (C152Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651990	NM_080424.4(SP110):c.1773A>G (p.Val591=)	SP110	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2582384	NM_080424.4(SP110):c.1514AAGGAA[1] (p.Lys507_Gly508del)	SP110	Microsatellite (inframe_deletion)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 2527121	NM_080424.4(SP110):c.1529A>G (p.Asn510Ser)	SP110 (N460S +2 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 2475773	NM_080424.4(SP110):c.1132G>T (p.Ala378Ser)	SP110 (A328S +2 more)	Single nucleotide variant (missense variant)	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 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 2428047	NM_080424.4(SP110):c.1556G>A (p.Arg519His)	SP110 (R469H +2 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 2425135	NC_000002.11:g.(?_231033840)_(231081642_?)del	SP110	Deletion	Hepatic veno-occlusive disease-immunodeficiency syndrome	GPathogenic
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 2416113	NM_080424.4(SP110):c.1631dup (p.Gln545fs)	SP110 (Q545fs +1 more)	Duplication (frameshift variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GPathogenic
Select item 2328387	NM_080424.4(SP110):c.1483A>C (p.Thr495Pro)	SP110 (T445P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317160	NM_080424.4(SP110):c.1583T>C (p.Leu528Pro)	SP110 (L478P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303715	NM_080424.4(SP110):c.1141C>T (p.Pro381Ser)	SP110 (P387S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282001	NM_080424.4(SP110):c.1608A>C (p.Glu536Asp)	SP110 (E542D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2246554	NM_080424.4(SP110):c.1150G>A (p.Gly384Ser)	SP110 (G334S +2 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 2229033	NM_080424.4(SP110):c.1198G>C (p.Asp400His)	SP110 (D350H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2226494	NM_080424.4(SP110):c.1382G>A (p.Cys461Tyr)	SP110 (C467Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2180832	NM_080424.4(SP110):c.1353A>T (p.Lys451Asn)	SP110 (K451N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 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 2172901	NM_080424.4(SP110):c.1580A>G (p.Glu527Gly)	SP110 (E527G +2 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 2172373	NM_080424.4(SP110):c.1340A>G (p.His447Arg)	SP110 (H397R +2 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 2170490	NM_080424.4(SP110):c.1707-11C>T	SP110	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GLikely benign

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