ClinVar for Gene (Select 57508) - ClinVar

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Links from Gene

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286226	NM_001351695.2(INTS2):c.3391C>A (p.Gln1131Lys)	INTS2 (Q1131K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286225	NM_001351695.2(INTS2):c.2985A>C (p.Gln995His)	INTS2 (Q1003H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286224	NM_001351695.2(INTS2):c.3179A>G (p.Tyr1060Cys)	INTS2 (Y1060C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286223	NM_001351695.2(INTS2):c.1330A>T (p.Met444Leu)	INTS2 (M452L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286222	NM_001351695.2(INTS2):c.296A>G (p.His99Arg)	INTS2 (H107R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286221	NM_001351695.2(INTS2):c.370C>T (p.His124Tyr)	INTS2 (H132Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286219	NM_001351695.2(INTS2):c.346C>G (p.His116Asp)	INTS2 (H116D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286218	NM_001351695.2(INTS2):c.2933T>G (p.Leu978Trp)	INTS2 (L986W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286217	NM_001351695.2(INTS2):c.1229G>A (p.Arg410His)	INTS2, LOC130061361 (R410H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242968	NC_000017.10:g.(?_59861717)_(59987228_?)del	BRIP1, INTS2	Deletion	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 3242956	NC_000017.10:g.(?_59878795)_(59946639_?)del	BRIP1, INTS2	Deletion	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 3148898	GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3	ACE, APPBP2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 3110172	NM_001351695.2(INTS2):c.960A>C (p.Lys320Asn)	INTS2 (K328N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110171	NM_001351695.2(INTS2):c.314G>A (p.Ser105Asn)	INTS2 (S105N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110170	NM_001351695.2(INTS2):c.3248T>C (p.Leu1083Ser)	INTS2 (L1083S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110169	NM_001351695.2(INTS2):c.3161C>G (p.Ser1054Cys)	INTS2 (S1054C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110168	NM_001351695.2(INTS2):c.3143T>A (p.Phe1048Tyr)	INTS2 (F1048Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110167	NM_001351695.2(INTS2):c.2662C>A (p.Leu888Met)	INTS2 (L896M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110166	NM_001351695.2(INTS2):c.2431G>A (p.Val811Ile)	INTS2 (V811I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110165	NM_001351695.2(INTS2):c.2395C>G (p.Arg799Gly)	INTS2 (R807G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110164	NM_001351695.2(INTS2):c.2345C>T (p.Ala782Val)	INTS2 (A790V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110163	NM_001351695.2(INTS2):c.2300T>C (p.Ile767Thr)	INTS2 (I775T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110162	NM_001351695.2(INTS2):c.-3A>G	INTS2 (I8V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3110160	NM_001351695.2(INTS2):c.170C>T (p.Ala57Val)	INTS2 (A57V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110159	NM_001351695.2(INTS2):c.1534A>G (p.Ile512Val)	INTS2 (I520V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063480	GRCh37/hg19 17q23.2(chr17:59909598-59969585)x1	BRIP1, INTS2	Copy number loss	not specified	GPathogenic
Select item 3059600	NM_001351695.2(INTS2):c.1749A>G (p.Gln583=)	INTS2	Single nucleotide variant (synonymous variant)	INTS2-related disorder	GBenign
Select item 3050653	NM_001351695.2(INTS2):c.432+5A>G	INTS2	Single nucleotide variant (intron variant)	INTS2-related disorder	GLikely benign
Select item 3040436	NM_001351695.2(INTS2):c.1055T>C (p.Val352Ala)	INTS2 (V352A +1 more)	Single nucleotide variant (missense variant)	INTS2-related disorder	GLikely benign
Select item 2685605	GRCh37/hg19 17q23.2(chr17:59960921-60036130)x1	INTS2, MED13	Copy number loss	not provided	GPathogenic
Select item 2685604	GRCh37/hg19 17q23.1-23.2(chr17:58111095-60355640)x1	APPBP2, BCAS3 +12 more	Copy number loss	not provided	GPathogenic
Select item 2648003	NM_001351695.2(INTS2):c.186C>T (p.Leu62=)	INTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2628000	NM_001351695.2(INTS2):c.2132C>T (p.Pro711Leu)	INTS2 (P711L +1 more)	Single nucleotide variant (missense variant)	Exstrophy-epispadias complex	GUncertain significance
Select item 2613747	NM_001351695.2(INTS2):c.946G>A (p.Gly316Arg)	INTS2 (G316R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597955	NM_001351695.2(INTS2):c.2230C>A (p.His744Asn)	INTS2 (H744N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556945	NM_001351695.2(INTS2):c.2753T>C (p.Leu918Ser)	INTS2 (L918S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553986	NM_001351695.2(INTS2):c.-17A>G	INTS2 (D3G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2551195	NM_001351695.2(INTS2):c.3320C>T (p.Pro1107Leu)	INTS2 (P1107L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550034	NM_001351695.2(INTS2):c.2969G>A (p.Cys990Tyr)	INTS2 (C990Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541090	NM_001351695.2(INTS2):c.1019T>C (p.Met340Thr)	INTS2 (M348T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533290	NM_001351695.2(INTS2):c.2940T>G (p.Cys980Trp)	INTS2 (C980W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523188	NM_001351695.2(INTS2):c.1901G>A (p.Arg634His)	INTS2 (R642H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512922	NM_001351695.2(INTS2):c.2708G>T (p.Gly903Val)	INTS2 (G903V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485250	NM_001351695.2(INTS2):c.3139A>C (p.Ile1047Leu)	INTS2 (I1047L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479917	NM_001351695.2(INTS2):c.1766A>C (p.Asp589Ala)	INTS2 (D589A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455265	NM_001351695.2(INTS2):c.971G>C (p.Ser324Thr)	INTS2 (S324T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411054	NM_001351695.2(INTS2):c.2696A>G (p.Asn899Ser)	INTS2 (N899S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406973	NM_001351695.2(INTS2):c.754C>G (p.Gln252Glu)	INTS2 (Q252E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387501	NM_001351695.2(INTS2):c.3356A>G (p.Gln1119Arg)	INTS2 (Q1119R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382873	NM_001351695.2(INTS2):c.1043G>A (p.Ser348Asn)	INTS2 (S348N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345426	NM_001351695.2(INTS2):c.1796C>T (p.Ala599Val)	INTS2 (A599V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333583	NM_001351695.2(INTS2):c.1049G>A (p.Arg350Gln)	INTS2 (R358Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320586	NM_001351695.2(INTS2):c.1616A>G (p.Asn539Ser)	INTS2 (N539S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313551	NM_001351695.2(INTS2):c.3446C>G (p.Pro1149Arg)	INTS2 (P1149R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286098	NM_001351695.2(INTS2):c.1900C>T (p.Arg634Cys)	INTS2 (R642C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278715	NM_001351695.2(INTS2):c.1742A>G (p.His581Arg)	INTS2 (H589R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272314	NM_001351695.2(INTS2):c.710G>A (p.Arg237His)	INTS2 (R245H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270816	NM_001351695.2(INTS2):c.916C>T (p.Arg306Trp)	INTS2 (R314W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255897	NM_001351695.2(INTS2):c.2395C>T (p.Arg799Trp)	INTS2 (R807W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253639	NM_001351695.2(INTS2):c.3265T>C (p.Tyr1089His)	INTS2 (Y1089H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249450	NM_001351695.2(INTS2):c.1009C>G (p.Leu337Val)	INTS2 (L345V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243027	NM_001351695.2(INTS2):c.1985C>G (p.Ala662Gly)	INTS2 (A670G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236228	NM_001351695.2(INTS2):c.584A>G (p.His195Arg)	INTS2 (H195R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211940	NM_001351695.2(INTS2):c.446A>G (p.Asn149Ser)	INTS2 (N149S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1703621	GRCh37/hg19 17q23.1-23.2(chr17:58111094-60323067)	APPBP2, BCAS3 +12 more	Copy number gain	Familial clubfoot due to 17q23.1q23.2 microduplication	GLikely pathogenic
Select item 1338831	GRCh38/hg38 17q23.2(chr17:61778623-62006540)	BRIP1, INTS2 +5 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 980723	GRCh37/hg19 17q23.2(chr17:59867228-59995992)x1	BRIP1, INTS2	Copy number loss	not provided	GPathogenic
Select item 974763	NC_000017.10:g.58076721_60362868del	APPBP2, BCAS3 +12 more	Deletion	Megacolon	GLikely pathogenic
Select item 726342	NM_001351695.2(INTS2):c.2539A>T (p.Ile847Leu)	INTS2 (I847L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625757	GRCh37/hg19 17q23.1-23.2(chr17:58121190-60140614)	APPBP2, BCAS3 +12 more	Copy number gain	not provided	GLikely pathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 564460	GRCh37/hg19 17q23.2(chr17:59815184-60231398)x3	INTS2, BRIP1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 564457	GRCh37/hg19 17q23.2(chr17:58388728-60486746)x1	BCAS3, LINC02875 +11 more	Copy number loss	not provided	GLikely pathogenic
Select item 443558	GRCh37/hg19 17q22-23.2(chr17:56623275-60285107)x1	APPBP2, BCAS3 +29 more	Copy number loss	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic
Select item 151771	GRCh38/hg38 17q23.2-23.3(chr17:61631101-63219455)x1	BRIP1, EFCAB3 +39 more	Copy number loss	See cases	GLikely pathogenic
Select item 151513	GRCh38/hg38 17q23.2(chr17:61859764-61943694)x3	BRIP1, INTS2 +3 more	Copy number gain	See cases	GUncertain significance
Select item 150506	GRCh38/hg38 17q23.2(chr17:61813473-62026326)x1	BRIP1, INTS2 +4 more	Copy number loss	See cases	GUncertain significance
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 146527	GRCh38/hg38 17q23.2(chr17:60255192-62237942)x1	APPBP2, APPBP2-DT +49 more	Copy number loss	See cases	GPathogenic
Select item 58702	GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3	ACE, APOH +48 more	Copy number gain	See cases	GPathogenic
Select item 57542	GRCh38/hg38 17q23.1-23.2(chr17:60043448-62148729)x1	APPBP2, APPBP2-DT +61 more	Copy number loss	See cases	GPathogenic
Select item 57501	GRCh37/hg19 17q23(chr17:58934659-60395826)x1	BCAS3, BRIP1 +6 more	Copy number loss	See cases	GPathogenic
Select item 57455	GRCh38/hg38 17q23.1-23.2(chr17:60095339-62237942)x1	APPBP2, APPBP2-DT +56 more	Copy number loss	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 89