ClinVar for Gene (Select 3685) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3111382	NM_002210.5(ITGAV):c.697A>G (p.Lys233Glu)	ITGAV (K187E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111381	NM_002210.5(ITGAV):c.67C>T (p.Leu23Phe)	ITGAV (L23F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111380	NM_002210.5(ITGAV):c.678C>A (p.Asp226Glu)	ITGAV (D226E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111379	NM_002210.5(ITGAV):c.470C>A (p.Thr157Lys)	ITGAV (T111K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111378	NM_002210.5(ITGAV):c.2753G>C (p.Arg918Thr)	ITGAV (R918T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111377	NM_002210.5(ITGAV):c.2683A>G (p.Ser895Gly)	ITGAV (S859G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111376	NM_002210.5(ITGAV):c.2564A>T (p.Asp855Val)	ITGAV (D809V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111375	NM_002210.5(ITGAV):c.2489C>T (p.Pro830Leu)	ITGAV (P784L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111374	NM_002210.5(ITGAV):c.2348T>C (p.Val783Ala)	ITGAV (V747A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111373	NM_002210.5(ITGAV):c.2251A>G (p.Asn751Asp)	ITGAV (N751D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111372	NM_002210.5(ITGAV):c.2107G>C (p.Glu703Gln)	ITGAV (E657Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111371	NM_002210.5(ITGAV):c.2020A>G (p.Ile674Val)	ITGAV (I638V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111370	NM_002210.5(ITGAV):c.190A>G (p.Met64Val)	ITGAV (M64V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111368	NM_002210.5(ITGAV):c.1835C>T (p.Thr612Met)	ITGAV (T566M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111367	NM_002210.5(ITGAV):c.1544G>A (p.Gly515Glu)	ITGAV (G469E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111365	NM_002210.5(ITGAV):c.1226G>T (p.Arg409Ile)	ITGAV (R363I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111364	NM_002210.5(ITGAV):c.1168A>G (p.Ile390Val)	ITGAV (I344V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111363	NM_002210.5(ITGAV):c.1054G>A (p.Ala352Thr)	ITGAV (A316T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061170	NM_002210.5(ITGAV):c.1302T>C (p.Phe434=)	ITGAV	Single nucleotide variant (synonymous variant)	ITGAV-related disorder	GLikely benign
Select item 3059628	NM_002210.5(ITGAV):c.2247-10dup	ITGAV	Duplication (intron variant)	ITGAV-related disorder	GLikely benign
Select item 3053056	NM_002210.5(ITGAV):c.3090A>G (p.Glu1030=)	ITGAV	Single nucleotide variant (synonymous variant)	ITGAV-related disorder	GLikely benign
Select item 3047661	NM_002210.5(ITGAV):c.803-22TTTG[5]	ITGAV	Microsatellite (intron variant)	ITGAV-related disorder	GLikely benign
Select item 3039819	NM_002210.5(ITGAV):c.1642T>G (p.Ser548Ala)	ITGAV (S502A +2 more)	Single nucleotide variant (missense variant)	ITGAV-related disorder	GLikely benign
Select item 3038602	NM_002210.5(ITGAV):c.1053A>G (p.Arg351=)	ITGAV	Single nucleotide variant (synonymous variant)	ITGAV-related disorder	GLikely benign
Select item 3037004	NM_002210.5(ITGAV):c.*2T>C	ITGAV	Single nucleotide variant (3 prime UTR variant)	ITGAV-related disorder	GLikely benign
Select item 3036536	NM_002210.5(ITGAV):c.1655C>T (p.Ser552Phe)	ITGAV (S506F +2 more)	Single nucleotide variant (missense variant)	ITGAV-related disorder	GLikely benign
Select item 3036217	NM_002210.5(ITGAV):c.1242C>T (p.Asn414=)	ITGAV	Single nucleotide variant (synonymous variant)	ITGAV-related disorder	GLikely benign
Select item 3036090	NM_002210.5(ITGAV):c.802+8G>A	ITGAV	Single nucleotide variant (intron variant)	ITGAV-related disorder	GLikely benign
Select item 3027417	NM_002210.5(ITGAV):c.224C>T (p.Thr75Ile)	ITGAV (T29I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664476	NM_002210.5(ITGAV):c.1564+3_1564+6del	ITGAV	Deletion (splice donor variant)	ITGAV deficiency	GLikely pathogenic
Select item 2663880	NM_002210.5(ITGAV):c.2247-1G>A	ITGAV	Single nucleotide variant (splice acceptor variant)	ITGAV deficiency	GLikely pathogenic
Select item 2663810	NM_002210.5(ITGAV):c.1136A>T (p.Asp379Val)	ITGAV (D333V +2 more)	Single nucleotide variant (missense variant)	ITGAV deficiency	GPathogenic
Select item 2663809	NM_002210.5(ITGAV):c.432G>C (p.Trp144Cys)	ITGAV (W144C +1 more)	Single nucleotide variant (missense variant)	ITGAV deficiency	GPathogenic
Select item 2624341	NM_002210.5(ITGAV):c.721C>T (p.Arg241Trp)	ITGAV (R195W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605091	NM_002210.5(ITGAV):c.1165G>A (p.Ala389Thr)	ITGAV (A343T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602487	NM_002210.5(ITGAV):c.1946T>C (p.Ile649Thr)	ITGAV (I649T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592411	NM_002210.5(ITGAV):c.298A>G (p.Ile100Val)	ITGAV (I100V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590140	NM_002210.5(ITGAV):c.1774C>T (p.Arg592Trp)	ITGAV (R592W +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2558950	NM_002210.5(ITGAV):c.2059G>A (p.Val687Ile)	ITGAV (V687I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557793	NM_002210.5(ITGAV):c.1847T>G (p.Ile616Ser)	ITGAV (I616S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531030	NM_002210.5(ITGAV):c.2489C>G (p.Pro830Arg)	ITGAV (P784R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530063	NM_002210.5(ITGAV):c.1677G>T (p.Arg559Ser)	ITGAV (R523S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517317	NM_002210.5(ITGAV):c.728C>T (p.Ala243Val)	ITGAV (A197V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514665	NM_002210.5(ITGAV):c.1424C>A (p.Ala475Asp)	ITGAV (A439D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495364	NM_002210.5(ITGAV):c.2878G>A (p.Glu960Lys)	ITGAV (E924K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480581	NM_002210.5(ITGAV):c.1234G>A (p.Gly412Ser)	ITGAV (G376S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478866	NM_002210.5(ITGAV):c.985C>A (p.Leu329Ile)	ITGAV (L329I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478865	NM_002210.5(ITGAV):c.1757C>G (p.Thr586Ser)	ITGAV (T586S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475314	NM_002210.5(ITGAV):c.1462A>T (p.Asn488Tyr)	ITGAV (N442Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473630	NM_002210.5(ITGAV):c.2648G>A (p.Arg883Gln)	ITGAV (R837Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459126	NM_002210.5(ITGAV):c.287G>A (p.Arg96Gln)	ITGAV (R50Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459001	NM_002210.5(ITGAV):c.1678G>C (p.Gly560Arg)	ITGAV (G514R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404522	NM_002210.5(ITGAV):c.232C>G (p.Pro78Ala)	ITGAV (P78A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398641	NM_002210.5(ITGAV):c.1207G>A (p.Val403Ile)	ITGAV (V367I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382330	NM_002210.5(ITGAV):c.1709C>T (p.Ala570Val)	ITGAV (A570V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363751	NM_002210.5(ITGAV):c.1486A>G (p.Thr496Ala)	ITGAV (T460A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356138	NM_002210.5(ITGAV):c.2074G>C (p.Ala692Pro)	ITGAV (A646P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354799	NM_002210.5(ITGAV):c.1120A>G (p.Ile374Val)	ITGAV (I328V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352593	NM_002210.5(ITGAV):c.102C>G (p.Asp34Glu)	ITGAV (D34E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336175	NM_002210.5(ITGAV):c.3074G>A (p.Arg1025Gln)	ITGAV (R1025Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327025	NM_002210.5(ITGAV):c.2899C>G (p.Pro967Ala)	ITGAV (P921A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322149	NM_002210.5(ITGAV):c.1910A>C (p.Glu637Ala)	ITGAV (E637A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316526	NM_002210.5(ITGAV):c.455G>A (p.Arg152Gln)	ITGAV (R152Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316191	NM_002210.5(ITGAV):c.1573G>A (p.Val525Met)	ITGAV (V525M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310073	NM_002210.5(ITGAV):c.2319G>C (p.Glu773Asp)	ITGAV (E727D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298906	NM_002210.5(ITGAV):c.3116A>G (p.His1039Arg)	ITGAV (H993R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296344	NM_002210.5(ITGAV):c.2566A>G (p.Met856Val)	ITGAV (M856V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292605	NM_002210.5(ITGAV):c.2177G>T (p.Gly726Val)	ITGAV (G726V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285234	NM_002210.5(ITGAV):c.308A>G (p.Asp103Gly)	ITGAV (D103G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283566	NM_002210.5(ITGAV):c.1295C>A (p.Pro432Gln)	ITGAV (P396Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277916	NM_002210.5(ITGAV):c.1163T>C (p.Ile388Thr)	ITGAV (I388T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265711	NM_002210.5(ITGAV):c.58C>T (p.Leu20Phe)	ITGAV (L20F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261936	NM_002210.5(ITGAV):c.77C>T (p.Pro26Leu)	ITGAV (P26L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243402	NM_002210.5(ITGAV):c.168C>G (p.Phe56Leu)	ITGAV, LOC129935234 (F56L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232367	NM_002210.5(ITGAV):c.1978A>G (p.Lys660Glu)	ITGAV (K624E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229025	NM_002210.5(ITGAV):c.2407G>A (p.Gly803Arg)	ITGAV (G757R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225365	NM_002210.5(ITGAV):c.773T>C (p.Val258Ala)	ITGAV (V212A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215777	NM_002210.5(ITGAV):c.722G>A (p.Arg241Gln)	ITGAV (R205Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809170	GRCh37/hg19 2q32.1(chr2:187466416-188487473)x3	CALCRL, FAM171B +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807826	GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	ANKAR, ANKRD44 +48 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 787778	NM_002210.5(ITGAV):c.675C>T (p.Tyr225=)	ITGAV	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787777	NM_002210.5(ITGAV):c.441G>A (p.Glu147=)	ITGAV	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785020	NM_002210.5(ITGAV):c.2964G>A (p.Ala988=)	ITGAV	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785019	NM_002210.5(ITGAV):c.956+8T>A	ITGAV	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 772853	NM_002210.5(ITGAV):c.1710G>A (p.Ala570=)	ITGAV	Single nucleotide variant (synonymous variant)	ITGAV-related disorder +1 more	GBenign/Likely benign
Select item 743753	NM_002210.5(ITGAV):c.1719+10A>G	ITGAV	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 688783	GRCh37/hg19 2q32.1(chr2:187445266-187627894)x3	FAM171B, ITGAV	Copy number gain	not provided	GUncertain significance
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 687001	GRCh37/hg19 2q32.1(chr2:186234826-188972311)x3	CALCRL, FAM171B +5 more	Copy number gain	not provided	GUncertain significance
Select item 685156	GRCh37/hg19 2q32.1(chr2:186861444-188658263)x1	CALCRL, FAM171B +4 more	Copy number loss	not provided	GUncertain significance
Select item 635896	Single allele	CALCRL, FAM171B +5 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

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