TIGD5[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 152355	GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1	ADGRB1, ARC +172 more	Copy number loss	See cases	GPathogenic
Select item 146735	GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1	ADGRB1, ARC +140 more	Copy number loss	See cases	GPathogenic
Select item 3177471	NM_032862.5(TIGD5):c.29C>A (p.Pro10Gln)	TIGD5 (P10Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177472	NM_032862.5(TIGD5):c.43G>A (p.Gly15Ser)	TIGD5 (G15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479786	NM_032862.5(TIGD5):c.95C>T (p.Ala32Val)	TIGD5 (A32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206342	NM_032862.5(TIGD5):c.109C>T (p.Pro37Ser)	TIGD5 (P37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612725	NM_032862.5(TIGD5):c.137T>C (p.Val46Ala)	TIGD5 (V46A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479080	NM_032862.5(TIGD5):c.403C>G (p.Leu135Val)	TIGD5 (L135V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485627	NM_032862.5(TIGD5):c.407G>T (p.Arg136Leu)	TIGD5 (R136L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177473	NM_032862.5(TIGD5):c.471G>C (p.Gln157His)	TIGD5 (Q157H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366137	NM_032862.5(TIGD5):c.610A>G (p.Lys204Glu)	TIGD5 (K204E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493716	NM_032862.5(TIGD5):c.614A>G (p.Glu205Gly)	TIGD5 (E205G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177474	NM_032862.5(TIGD5):c.659C>G (p.Ala220Gly)	TIGD5 (A220G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224660	NM_032862.5(TIGD5):c.662C>T (p.Pro221Leu)	TIGD5 (P221L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177475	NM_032862.5(TIGD5):c.683A>C (p.Glu228Ala)	TIGD5 (E228A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326137	NM_032862.5(TIGD5):c.721G>A (p.Val241Ile)	TIGD5 (V241I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242312	NM_032862.5(TIGD5):c.724A>G (p.Thr242Ala)	TIGD5 (T242A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616150	NM_032862.5(TIGD5):c.736T>A (p.Trp246Arg)	TIGD5 (W246R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487428	NM_032862.5(TIGD5):c.782C>A (p.Pro261His)	TIGD5 (P261H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177476	NM_032862.5(TIGD5):c.872C>G (p.Pro291Arg)	TIGD5 (P291R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606835	NM_032862.5(TIGD5):c.917A>G (p.His306Arg)	TIGD5 (H306R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177463	NM_032862.5(TIGD5):c.1045C>G (p.Leu349Val)	TIGD5 (L349V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395738	NM_032862.5(TIGD5):c.1077C>A (p.His359Gln)	TIGD5 (H359Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658902	NM_032862.5(TIGD5):c.1293C>T (p.Arg431=)	TIGD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2545064	NM_032862.5(TIGD5):c.1309G>T (p.Ala437Ser)	TIGD5 (A437S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177464	NM_032862.5(TIGD5):c.1319G>T (p.Cys440Phe)	TIGD5 (C440F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222411	NM_032862.5(TIGD5):c.1324A>G (p.Ser442Gly)	TIGD5 (S442G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3177465	NM_032862.5(TIGD5):c.1336C>G (p.Leu446Val)	TIGD5 (L446V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264752	NM_032862.5(TIGD5):c.1360C>T (p.Leu454Phe)	TIGD5 (L454F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549548	NM_032862.5(TIGD5):c.1409C>T (p.Ala470Val)	TIGD5 (A470V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564541	NM_032862.5(TIGD5):c.1432C>G (p.Leu478Val)	TIGD5 (L478V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177466	NM_032862.5(TIGD5):c.1473G>T (p.Glu491Asp)	TIGD5 (E491D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177467	NM_032862.5(TIGD5):c.1520G>A (p.Ser507Asn)	TIGD5 (S507N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177468	NM_032862.5(TIGD5):c.1529T>C (p.Leu510Pro)	TIGD5 (L510P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177469	NM_032862.5(TIGD5):c.1619G>A (p.Gly540Asp)	TIGD5 (G540D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177470	NM_032862.5(TIGD5):c.1679C>T (p.Ala560Val)	TIGD5 (A560V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272696	NM_032862.5(TIGD5):c.1706G>A (p.Gly569Glu)	TIGD5 (G569E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256194	NM_032862.5(TIGD5):c.1709G>T (p.Gly570Val)	TIGD5 (G570V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460483	NM_032862.5(TIGD5):c.1732A>T (p.Thr578Ser)	TIGD5 (T578S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545651	NM_032862.5(TIGD5):c.1787A>C (p.Glu596Ala)	TIGD5 (E596A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248612	NM_032862.5(TIGD5):c.1846G>T (p.Val616Leu)	TIGD5 (V616L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405222	NM_032862.5(TIGD5):c.1877G>A (p.Arg626Gln)	TIGD5 (R626Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063034	GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3	ADCK5, ARHGAP39 +63 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	NRBP2, NSMCE2 +173 more	Copy number gain	not provided	GPathogenic
Select item 2684561	GRCh37/hg19 8q24.3(chr8:144282591-144740223)x3	EEF1D, GFUS +14 more	Copy number gain	not provided	GUncertain significance
Select item 2684556	GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	ADCK5, ADGRB1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527465	GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)	ADCK5, ADCY8 +117 more	Copy number gain	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1454990	NC_000008.10:g.(?_144295143)_(145701139_?)del	ADCK5, BOP1 +52 more	Deletion	Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more	GPathogenic
Select item 1411704	NC_000008.10:g.(?_143822561)_(145743168_?)dup	ADCK5, BOP1 +66 more	Duplication	Holoprosencephaly sequence	GUncertain significance
Select item 979858	GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3	ADCK5, ARHGAP39 +69 more	Copy number gain	not provided	GLikely pathogenic
Select item 815175	GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1	ADGRB1, ARC +37 more	Copy number loss	not provided	GPathogenic
Select item 815173	GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1	ADGRB1, ARC +62 more	Copy number loss	not provided	GPathogenic
Select item 815169	GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3	ADCK5, ADCY8 +119 more	Copy number gain	not provided	GPathogenic
Select item 815163	GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3	ADGRB1, ADCY8 +155 more	Copy number gain	not provided	GPathogenic
Select item 689071	GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3	ADCK5, ADCY8 +150 more	Copy number gain	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 687148	GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3	ADCK5, ARHGAP39 +70 more	Copy number gain	not provided	GUncertain significance
Select item 686463	GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3	ADCK5, ADGRB1 +100 more	Copy number gain	not provided	GPathogenic
Select item 686106	GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3	ADCK5, ADGRB1 +99 more	Copy number gain	not provided	GPathogenic
Select item 684997	GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3	ADCK5, ADCY8 +132 more	Copy number gain	not provided	GPathogenic
Select item 563555	GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3	ADCK5, ADCY8 +151 more	Copy number gain	not provided	GPathogenic
Select item 563531	GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3	ZFP41, ZFTRAF1 +80 more	Copy number gain	not provided	GPathogenic
Select item 523293	GRCh37/hg19 8q24.3(chr8:142840194-146280020)	CYP11B1, KIFC2 +86 more	Copy number gain	Intellectual disability	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442692	GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3	AARD, ADCK5 +172 more	Copy number gain	See cases	GPathogenic
Select item 442205	GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3	ADCK5, ADGRB1 +100 more	Copy number gain	See cases	GLikely pathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 395449	GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	AARD, ABRA +228 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394633	GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3	ADCK5, ADGRB1 +101 more	Copy number gain	See cases	GPathogenic

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Items: 100