TIGD7[gene] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 58620	GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3	ADCY9, BICDL2 +180 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 151030	GRCh38/hg38 16p13.3(chr16:3061267-3666094)x3	C16orf90, CLUAP1 +101 more	Copy number gain	See cases	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 711958	NM_033208.4(TIGD7):c.1630A>G (p.Thr544Ala)	TIGD7, ZNF263 (T544A)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2358002	NM_033208.4(TIGD7):c.1576A>G (p.Ser526Gly)	TIGD7, ZNF263 (S526G)	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 2235202	NM_033208.4(TIGD7):c.1450T>G (p.Leu484Val)	TIGD7, ZNF263 (L484V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2284083	NM_033208.4(TIGD7):c.1369A>G (p.Ile457Val)	TIGD7, ZNF263 (I457V)	Single nucleotide variant (missense variant)	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 2357737	NM_033208.4(TIGD7):c.1255G>C (p.Asp419His)	TIGD7, ZNF263 (D419H)	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 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 2248520	NM_033208.4(TIGD7):c.1070G>A (p.Ser357Asn)	TIGD7, ZNF263 (S357N)	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 2386863	NM_033208.4(TIGD7):c.911C>G (p.Ser304Cys)	TIGD7, ZNF263 (S304C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2366616	NM_033208.4(TIGD7):c.861G>C (p.Glu287Asp)	TIGD7, ZNF263 (E287D)	Single nucleotide variant (missense variant)	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 2268355	NM_033208.4(TIGD7):c.794G>C (p.Trp265Ser)	TIGD7, ZNF263 (W265S)	Single nucleotide variant (missense variant)	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 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 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 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 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 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 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 2213377	NM_033208.4(TIGD7):c.584G>A (p.Arg195Lys)	TIGD7, ZNF263 (R195K)	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 768743	NM_033208.4(TIGD7):c.537A>G (p.Glu179=)	TIGD7, ZNF263	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 711959	NM_033208.4(TIGD7):c.435C>G (p.Val145=)	TIGD7, ZNF263	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 2233171	NM_033208.4(TIGD7):c.269A>G (p.Gln90Arg)	TIGD7, ZNF263 (Q90R)	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 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 2285610	NM_033208.4(TIGD7):c.199G>A (p.Glu67Lys)	TIGD7, ZNF263 (E67K)	Single nucleotide variant (missense variant)	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 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 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 2402514	NM_033208.4(TIGD7):c.40G>A (p.Glu14Lys)	TIGD7, ZNF263 (E14K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 149298	GRCh38/hg38 16p13.3(chr16:3303551-3965374)x3	ADCY9, C16orf90 +50 more	Copy number gain	See cases	GLikely pathogenic
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	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 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 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
Select item 815770	GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3	ADCY9, BICDL2 +56 more	Copy number gain	not provided	GPathogenic
Select item 689245	GRCh37/hg19 16p13.3(chr16:3112024-3738078)x3	C16orf90, CLUAP1 +20 more	Copy number gain	not provided	GUncertain significance
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 624543	GRCh37/hg19 16p13.3(chr16:3219476-3378736)x3	MEFV, OR1F1 +4 more	Copy number gain	not provided	GLikely benign
Select item 564259	GRCh37/hg19 16p13.3(chr16:3265427-3731182)x3	NAA60, MTRNR2L4 +15 more	Copy number gain	not provided	GUncertain significance
Select item 564258	GRCh37/hg19 16p13.3(chr16:2651354-4460114)x3	ADCY9, BICDL2 +51 more	Copy number gain	not provided	GPathogenic
Select item 564256	GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	ABCA3, ADCY9 +103 more	Copy number gain	not provided	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443444	GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1	ADCY9, ALG1 +50 more	Copy number loss	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 442735	GRCh37/hg19 16p13.3(chr16:2606710-3382546)x3	BICDL2, CLDN6 +30 more	Copy number gain	See cases	GUncertain significance
Select item 442459	GRCh37/hg19 16p13.3(chr16:2891391-4440397)x3	ADCY9, BICDL2 +42 more	Copy number gain	See cases	GUncertain significance
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 253953	GRCh37/hg19 16p13.3(chr16:3273336-3350698)x3	MEFV, ZNF263 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253768	GRCh37/hg19 16p13.3(chr16:3273336-3361764)x3	ZNF263, ZNF200 +3 more	Copy number gain	See cases	GUncertain significance
Select item 253729	GRCh37/hg19 16p13.3(chr16:3104050-3722491)x3	C16orf90, CLUAP1 +21 more	Copy number gain	See cases	GUncertain significance
Select item 253470	GRCh37/hg19 16p13.3(chr16:2867891-3942436)x3	BICDL2, C16orf90 +36 more	Copy number gain	See cases	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 93