ClinVar for MedGen (Select 482122) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254372	NM_004656.4(BAP1):c.846dup (p.Glu283Ter)	BAP1 (E265* +1 more)	Duplication (nonsense)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 3254371	NM_004656.4(BAP1):c.1938_1939insTT (p.Glu647fs)	BAP1 (E629fs +1 more)	Insertion (frameshift variant)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 3254290	NM_004656.4(BAP1):c.1878del (p.Lys626fs)	BAP1 (K608fs +1 more)	Deletion (frameshift variant)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 3246921	NC_000003.11:g.(?_52439196)_(52439840_?)del	BAP1	Deletion	BAP1-related tumor predisposition syndrome	GLikely pathogenic
Select item 3246920	NC_000003.11:g.(?_52443560)_(52443894_?)dup	BAP1	Duplication	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3246919	NC_000003.11:g.(?_52439771)_(52443894_?)dup	BAP1	Duplication	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3246918	NC_000003.11:g.(?_52443710)_(52443894_?)del	BAP1	Deletion	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 3240853	NM_004656.4(BAP1):c.2023A>G (p.Ile675Val)	BAP1 (I657V +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3240852	NM_004656.4(BAP1):c.122G>A (p.Gly41Asp)	BAP1 (G41D)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3240851	NM_004656.4(BAP1):c.1115A>C (p.Gln372Pro)	BAP1 (Q354P +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3240850	NM_004656.4(BAP1):c.1568T>C (p.Val523Ala)	BAP1 (V505A +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3240849	NM_004656.4(BAP1):c.2080C>G (p.Gln694Glu)	BAP1 (Q676E +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3240848	NM_004656.4(BAP1):c.70G>A (p.Val24Ile)	BAP1 (V24I)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3240847	NM_004656.4(BAP1):c.1403_1404delinsCT (p.Ser468Thr)	BAP1 (S450T +1 more)	Indel (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3240846	NM_004656.4(BAP1):c.788T>G (p.Ile263Arg)	BAP1 (I245R +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3240845	NM_004656.4(BAP1):c.2057G>T (p.Gly686Val)	BAP1 (G668V +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3240844	NM_004656.4(BAP1):c.1250+32T>G	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3240843	NM_004656.4(BAP1):c.953dup (p.Ser319fs)	BAP1 (S301fs +1 more)	Duplication (frameshift variant)	BAP1-related tumor predisposition syndrome	GLikely pathogenic
Select item 3148669	NM_004656.4(BAP1):c.1934del (p.Asn645fs)	BAP1 (N645fs +1 more)	Deletion (frameshift variant)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 3023787	NM_004656.4(BAP1):c.37+40G>A	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 3023496	NM_004656.4(BAP1):c.184G>A (p.Val62Ile)	BAP1 (V62I)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3023138	NM_004656.4(BAP1):c.659+7G>A	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 3021538	NM_004656.4(BAP1):c.438-16C>T	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 3021074	NM_004656.4(BAP1):c.1892A>C (p.Glu631Ala)	BAP1 (E613A +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3019678	NM_004656.4(BAP1):c.335T>G (p.Leu112Arg)	BAP1 (L112R)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3018142	NM_004656.4(BAP1):c.1826G>A (p.Ser609Asn)	BAP1 (S609N +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3016858	NM_004656.4(BAP1):c.967G>T (p.Ala323Ser)	BAP1 (A305S +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3015665	NM_004656.4(BAP1):c.783+7G>A	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 3014698	NM_004656.4(BAP1):c.321C>G (p.Asp107Glu)	BAP1 (D107E)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3011630	NM_004656.4(BAP1):c.1235C>A (p.Thr412Asn)	BAP1 (T412N +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3011545	NM_004656.4(BAP1):c.783+20G>A	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 3010162	NM_004656.4(BAP1):c.1891-16T>C	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 3009485	NM_004656.4(BAP1):c.783+10C>G	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 3007535	NM_004656.4(BAP1):c.1448A>G (p.Gln483Arg)	BAP1 (Q465R +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3007139	NM_004656.4(BAP1):c.1531A>C (p.Ile511Leu)	BAP1 (I493L +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3006034	NM_004656.4(BAP1):c.1890+14G>C	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 3005172	NM_004656.4(BAP1):c.1729+13C>G	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 3004970	NM_004656.4(BAP1):c.1732G>T (p.Gly578Cys)	BAP1 (G560C +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3004474	NM_004656.4(BAP1):c.600G>C (p.Glu200Asp)	BAP1 (E200D)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3001880	NM_004656.4(BAP1):c.322C>T (p.Leu108=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 3001471	NM_004656.4(BAP1):c.771G>A (p.Glu257=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2999141	NM_004656.4(BAP1):c.493A>T (p.Met165Leu)	BAP1 (M165L)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2998471	NM_004656.4(BAP1):c.1117-4C>T	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2996162	NM_004656.4(BAP1):c.1317G>A (p.Val439=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2993740	NM_004656.4(BAP1):c.1586del (p.Lys529fs)	BAP1 (K511fs +1 more)	Deletion (frameshift variant)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 2992911	NM_004656.4(BAP1):c.122+8G>A	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2989337	NM_004656.4(BAP1):c.437+9G>A	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2984557	NM_004656.4(BAP1):c.1318C>G (p.Leu440Val)	BAP1 (L422V +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2983695	NM_004656.4(BAP1):c.1985T>A (p.Ile662Asn)	BAP1 (I644N +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2982145	NM_004656.4(BAP1):c.931+19C>A	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2979511	NM_004656.4(BAP1):c.1782G>T (p.Gly594=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2978147	NM_004656.4(BAP1):c.775C>T (p.Leu259=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2976690	NM_004656.4(BAP1):c.1408G>C (p.Gly470Arg)	BAP1 (G452R +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2975840	NM_004656.4(BAP1):c.1788C>G (p.Ser596Arg)	BAP1 (S578R +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2973597	NM_004656.4(BAP1):c.115T>C (p.Cys39Arg)	BAP1 (C39R)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2968788	NM_004656.4(BAP1):c.1251-10G>A	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2966839	NM_004656.4(BAP1):c.376-7C>T	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2962439	NM_004656.4(BAP1):c.357C>T (p.Thr119=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2956971	NM_004656.4(BAP1):c.2023A>T (p.Ile675Phe)	BAP1 (I675F +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2956138	NM_004656.4(BAP1):c.1730-8C>T	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2915798	NM_004656.4(BAP1):c.1069C>T (p.Leu357=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2915196	NM_004656.4(BAP1):c.37+26G>T	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2915092	NM_004656.4(BAP1):c.2101C>T (p.Arg701Cys)	BAP1 (R683C +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2914984	NM_004656.4(BAP1):c.428G>A (p.Ser143Asn)	BAP1 (S143N)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 2913858	NM_004656.4(BAP1):c.1485G>T (p.Thr495=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2913141	NM_004656.4(BAP1):c.1908G>T (p.Leu636=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2912913	NM_004656.4(BAP1):c.255+9G>A	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2912822	NM_004656.4(BAP1):c.1251-5C>T	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2911664	NM_004656.4(BAP1):c.1801_1803del (p.Lys601del)	BAP1 (K601del +1 more)	Deletion (inframe_deletion)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2910172	NM_004656.4(BAP1):c.1278del (p.Ala428fs)	BAP1 (A410fs +1 more)	Deletion (frameshift variant)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 2909030	NM_004656.4(BAP1):c.438-8T>C	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2907045	NM_004656.4(BAP1):c.1706T>C (p.Val569Ala)	BAP1 (V569A +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2906656	NM_004656.4(BAP1):c.37+28G>A	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2906491	NM_004656.4(BAP1):c.931+7G>C	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2905060	NM_004656.4(BAP1):c.1828A>G (p.Arg610Gly)	BAP1 (R592G +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 2903842	NM_004656.4(BAP1):c.67+13del	BAP1	Deletion (intron variant)	BAP1-related tumor predisposition syndrome	GBenign
Select item 2901451	NM_004656.4(BAP1):c.679C>G (p.Arg227Gly)	BAP1 (R227G)	Single nucleotide variant (missense variant +1 more)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2898704	NM_004656.4(BAP1):c.110G>A (p.Ser37Asn)	BAP1 (S37N)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2896579	NM_004656.4(BAP1):c.256-20G>T	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2895512	NM_004656.4(BAP1):c.37+44G>C	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GBenign
Select item 2885914	NM_004656.4(BAP1):c.816G>A (p.Gln272=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2884424	NM_004656.4(BAP1):c.2057-19G>A	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2880618	NM_004656.4(BAP1):c.1246C>T (p.Leu416Phe)	BAP1 (L398F +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2880400	NM_004656.4(BAP1):c.1509C>G (p.Phe503Leu)	BAP1 (F503L +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2880109	NM_004656.4(BAP1):c.342C>T (p.Arg114=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2879356	NM_004656.4(BAP1):c.123-19_123-7del	BAP1	Deletion (intron variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2876280	NM_004656.4(BAP1):c.123C>T (p.Gly41=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2875899	NM_004656.4(BAP1):c.2177C>T (p.Ala726Val)	BAP1 (A708V +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2873676	NM_004656.4(BAP1):c.1056C>T (p.Pro352=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2872308	NM_004656.4(BAP1):c.1227G>A (p.Val409=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2871023	NM_004656.4(BAP1):c.660-74_667del	BAP1	Deletion (intron variant +1 more)	BAP1-related tumor predisposition syndrome	GLikely pathogenic
Select item 2867308	NM_004656.4(BAP1):c.659+1G>C	BAP1	Single nucleotide variant (splice donor variant)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 2867008	NM_004656.4(BAP1):c.932-7G>A	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2866550	NM_004656.4(BAP1):c.2056+5G>T	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2864700	NM_004656.4(BAP1):c.256-12T>C	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2862951	NM_004656.4(BAP1):c.1250+10G>T	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2861999	NM_004656.4(BAP1):c.1021A>G (p.Ser341Gly)	BAP1 (S323G +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2861848	NM_004656.4(BAP1):c.340C>A (p.Arg114Ser)	BAP1 (R114S)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2861353	NM_004656.4(BAP1):c.784-25_784-18del	BAP1	Deletion (intron variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 2860377	NM_004656.4(BAP1):c.543T>C (p.Phe181=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome	GLikely benign

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