ClinVar for Gene (Select 10127) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335284	NM_005741.5(ZNF263):c.1585C>T (p.Arg529Trp)	ZNF263 (R529W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335283	NM_005741.5(ZNF263):c.481A>C (p.Met161Leu)	ZNF263 (M161L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335282	NM_005741.5(ZNF263):c.1763T>G (p.Met588Arg)	ZNF263 (M588R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335281	NM_005741.5(ZNF263):c.60G>C (p.Glu20Asp)	ZNF263 (E20D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335280	NM_005741.5(ZNF263):c.96C>A (p.Asp32Glu)	ZNF263 (D32E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335279	NM_005741.5(ZNF263):c.1717A>C (p.Lys573Gln)	ZNF263 (K573Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326154	NM_033208.4(TIGD7):c.92T>A (p.Val31Glu)	TIGD7, ZNF263 (V31E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326153	NM_033208.4(TIGD7):c.454A>T (p.Asn152Tyr)	TIGD7, ZNF263 (N152Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326151	NM_033208.4(TIGD7):c.206G>T (p.Arg69Ile)	TIGD7, ZNF263 (R69I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326150	NM_033208.4(TIGD7):c.757A>C (p.Lys253Gln)	TIGD7, ZNF263 (K253Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326149	NM_033208.4(TIGD7):c.620A>C (p.Lys207Thr)	TIGD7, ZNF263 (K207T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326148	NM_033208.4(TIGD7):c.1138A>G (p.Ile380Val)	TIGD7, ZNF263 (I380V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 3194748	NM_005741.5(ZNF263):c.8C>T (p.Ser3Leu)	ZNF263 (S3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194747	NM_005741.5(ZNF263):c.868C>T (p.Pro290Ser)	ZNF263 (P290S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194746	NM_005741.5(ZNF263):c.68C>T (p.Ala23Val)	ZNF263 (A23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194745	NM_005741.5(ZNF263):c.670A>G (p.Met224Val)	ZNF263 (M224V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194744	NM_005741.5(ZNF263):c.637C>T (p.Pro213Ser)	ZNF263 (P213S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194743	NM_005741.5(ZNF263):c.370G>C (p.Gly124Arg)	ZNF263 (G124R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194742	NM_005741.5(ZNF263):c.2018G>A (p.Arg673His)	ZNF263 (R673H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194741	NM_005741.5(ZNF263):c.14C>T (p.Pro5Leu)	ZNF263 (P5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194740	NM_005741.5(ZNF263):c.1429C>T (p.Leu477Phe)	ZNF263 (L477F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194739	NM_005741.5(ZNF263):c.1330A>G (p.Ser444Gly)	ZNF263 (S444G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194738	NM_005741.5(ZNF263):c.1095A>C (p.Glu365Asp)	ZNF263 (E365D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194737	NM_005741.5(ZNF263):c.1052G>A (p.Gly351Asp)	ZNF263 (G351D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3194736	NM_005741.5(ZNF263):c.1018C>G (p.Arg340Gly)	ZNF263 (R340G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177492	NM_033208.4(TIGD7):c.917C>T (p.Ser306Phe)	TIGD7, ZNF263 (S306F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177491	NM_033208.4(TIGD7):c.727A>C (p.Ser243Arg)	TIGD7, ZNF263 (S243R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177490	NM_033208.4(TIGD7):c.625A>T (p.Arg209Trp)	TIGD7, ZNF263 (R209W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177489	NM_033208.4(TIGD7):c.589G>A (p.Asp197Asn)	TIGD7, ZNF263 (D197N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177487	NM_033208.4(TIGD7):c.340T>A (p.Phe114Ile)	TIGD7, ZNF263 (F114I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177486	NM_033208.4(TIGD7):c.296G>A (p.Arg99Lys)	TIGD7, ZNF263 (R99K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177485	NM_033208.4(TIGD7):c.1314G>T (p.Arg438Ser)	TIGD7, ZNF263 (R438S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177484	NM_033208.4(TIGD7):c.1262G>C (p.Arg421Thr)	TIGD7, ZNF263 (R421T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063409	GRCh37/hg19 16p13.3(chr16:3112024-3506789)x3	IL32, MEFV +14 more	Copy number gain	not specified	GUncertain significance
Select item 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	CORO7, CORO7-PAM16 +52 more	Copy number loss	not provided	GPathogenic
Select item 2685542	GRCh37/hg19 16p13.3(chr16:3320855-3392971)x1	TIGD7, ZNF263 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685541	GRCh37/hg19 16p13.3(chr16:3282468-3467436)x1	MEFV, MTRNR2L4 +7 more	Copy number loss	not provided	GUncertain significance
Select item 2684776	GRCh37/hg19 16p13.3(chr16:2643569-3716657)x3	BICDL2, C16orf90 +42 more	Copy number gain	not provided	GUncertain significance
Select item 2684774	GRCh37/hg19 16p13.3(chr16:2606711-3935836)x3	BICDL2, C16orf90 +43 more	Copy number gain	not provided	GPathogenic
Select item 2622822	NM_033208.4(TIGD7):c.1371A>G (p.Ile457Met)	TIGD7, ZNF263 (I457M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622284	NM_005741.5(ZNF263):c.272C>T (p.Thr91Ile)	ZNF263 (T91I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619314	NM_005741.5(ZNF263):c.1235C>T (p.Thr412Ile)	ZNF263 (T412I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606728	NM_005741.5(ZNF263):c.494G>A (p.Arg165Gln)	ZNF263 (R165Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598817	NM_033208.4(TIGD7):c.1494G>C (p.Gln498His)	TIGD7, ZNF263 (Q498H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2557403	NM_033208.4(TIGD7):c.824G>A (p.Arg275Gln)	TIGD7, ZNF263 (R275Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531880	NM_005741.5(ZNF263):c.676A>T (p.Ile226Phe)	ZNF263 (I226F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527168	NM_005741.5(ZNF263):c.953T>C (p.Val318Ala)	ZNF263 (V318A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518888	NM_033208.4(TIGD7):c.122C>T (p.Thr41Ile)	TIGD7, ZNF263 (T41I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518744	NM_033208.4(TIGD7):c.627G>T (p.Arg209Ser)	TIGD7, ZNF263 (R209S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516264	NM_005741.5(ZNF263):c.341C>T (p.Thr114Ile)	ZNF263 (T114I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507931	NM_033208.4(TIGD7):c.334C>T (p.Arg112Trp)	TIGD7, ZNF263 (R112W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492396	NM_005741.5(ZNF263):c.1252A>T (p.Asn418Tyr)	ZNF263 (N418Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484354	NM_033208.4(TIGD7):c.751C>T (p.Pro251Ser)	TIGD7, ZNF263 (P251S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473381	NM_033208.4(TIGD7):c.1640C>A (p.Ser547Tyr)	TIGD7, ZNF263 (S547Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462682	NM_033208.4(TIGD7):c.157C>A (p.Leu53Met)	TIGD7, ZNF263 (L53M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425098	NC_000016.9:g.(?_3293141)_(5971108_?)dup	C16orf89, ADCY9 +45 more	Duplication	Rubinstein-Taybi syndrome	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2403702	NM_005741.5(ZNF263):c.725C>T (p.Ser242Phe)	ZNF263 (S242F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402514	NM_033208.4(TIGD7):c.40G>A (p.Glu14Lys)	TIGD7, ZNF263 (E14K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393130	NM_033208.4(TIGD7):c.1619G>A (p.Ser540Asn)	TIGD7, ZNF263 (S540N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2388860	NM_033208.4(TIGD7):c.896C>T (p.Pro299Leu)	TIGD7, ZNF263 (P299L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386863	NM_033208.4(TIGD7):c.911C>G (p.Ser304Cys)	TIGD7, ZNF263 (S304C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369443	NM_005741.5(ZNF263):c.430C>A (p.Pro144Thr)	ZNF263 (P144T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366618	NM_005741.5(ZNF263):c.1232G>A (p.Cys411Tyr)	ZNF263 (C411Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366616	NM_033208.4(TIGD7):c.861G>C (p.Glu287Asp)	TIGD7, ZNF263 (E287D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363405	NM_033208.4(TIGD7):c.1151C>T (p.Ala384Val)	TIGD7, ZNF263 (A384V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358791	NM_005741.5(ZNF263):c.818G>C (p.Gly273Ala)	ZNF263 (G273A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358002	NM_033208.4(TIGD7):c.1576A>G (p.Ser526Gly)	TIGD7, ZNF263 (S526G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357737	NM_033208.4(TIGD7):c.1255G>C (p.Asp419His)	TIGD7, ZNF263 (D419H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348855	NM_005741.5(ZNF263):c.442G>A (p.Glu148Lys)	ZNF263 (E148K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344946	NM_005741.5(ZNF263):c.745A>T (p.Ser249Cys)	ZNF263 (S249C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342631	NM_033208.4(TIGD7):c.238G>C (p.Val80Leu)	TIGD7, ZNF263 (V80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326357	NM_005741.5(ZNF263):c.777C>G (p.His259Gln)	ZNF263 (H259Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2299074	NM_005741.5(ZNF263):c.403C>T (p.Arg135Trp)	ZNF263 (R135W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285618	NM_005741.5(ZNF263):c.581C>T (p.Pro194Leu)	ZNF263 (P194L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285610	NM_033208.4(TIGD7):c.199G>A (p.Glu67Lys)	TIGD7, ZNF263 (E67K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284083	NM_033208.4(TIGD7):c.1369A>G (p.Ile457Val)	TIGD7, ZNF263 (I457V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279662	NM_005741.5(ZNF263):c.1985C>G (p.Ser662Cys)	ZNF263 (S662C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270722	NM_005741.5(ZNF263):c.1037C>T (p.Ala346Val)	ZNF263 (A346V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268355	NM_033208.4(TIGD7):c.794G>C (p.Trp265Ser)	TIGD7, ZNF263 (W265S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265729	NM_005741.5(ZNF263):c.650A>G (p.Glu217Gly)	ZNF263 (E217G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265101	NM_005741.5(ZNF263):c.400G>A (p.Gly134Arg)	ZNF263 (G134R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259857	NM_005741.5(ZNF263):c.424G>A (p.Glu142Lys)	ZNF263 (E142K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248520	NM_033208.4(TIGD7):c.1070G>A (p.Ser357Asn)	TIGD7, ZNF263 (S357N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246608	NM_005741.5(ZNF263):c.1541G>A (p.Gly514Glu)	ZNF263 (G514E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246362	NM_005741.5(ZNF263):c.352G>A (p.Asp118Asn)	ZNF263 (D118N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242645	NM_005741.5(ZNF263):c.11G>A (p.Gly4Asp)	ZNF263 (G4D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238825	NM_005741.5(ZNF263):c.1067C>A (p.Ala356Asp)	ZNF263 (A356D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235202	NM_033208.4(TIGD7):c.1450T>G (p.Leu484Val)	TIGD7, ZNF263 (L484V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233171	NM_033208.4(TIGD7):c.269A>G (p.Gln90Arg)	TIGD7, ZNF263 (Q90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220416	NM_005741.5(ZNF263):c.1112A>T (p.Glu371Val)	ZNF263 (E371V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219790	NM_033208.4(TIGD7):c.574C>G (p.Gln192Glu)	TIGD7, ZNF263 (Q192E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213377	NM_033208.4(TIGD7):c.584G>A (p.Arg195Lys)	TIGD7, ZNF263 (R195K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210829	NM_005741.5(ZNF263):c.1067C>T (p.Ala356Val)	ZNF263 (A356V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1455963	NC_000016.9:g.(?_3293141)_(3929917_?)del	C16orf90, CLUAP1 +15 more	Deletion	Rubinstein-Taybi syndrome	GPathogenic
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic

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