DEPTOR[gene] - ClinVar

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Items: 86

	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 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 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 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 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 146552	GRCh38/hg38 8q23.3-24.12(chr8:112528342-120083041)x1	LOC110120802, LOC111556135 +93 more	Copy number loss	See cases	GPathogenic
Select item 60403	GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1	AARD, ANXA13 +315 more	Copy number loss	See cases	GPathogenic
Select item 145965	GRCh38/hg38 8q23.3-24.12(chr8:113418060-120975305)x1	MTBP, RAD21 +101 more	Copy number loss	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 152006	GRCh38/hg38 8q23.3-24.13(chr8:113933305-122621741)x1	AARD, CCN3 +108 more	Copy number loss	See cases	GPathogenic
Select item 150131	GRCh38/hg38 8q23.3-24.13(chr8:114560780-122594102)x1	AARD, CCN3 +106 more	Copy number loss	See cases	GPathogenic
Select item 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	LOC130001241, LOC130001242 +559 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 60406	GRCh38/hg38 8q24.11-24.13(chr8:118059192-121574437)x1	CCN3, COL14A1 +55 more	Copy number loss	See cases	GPathogenic
Select item 147517	GRCh38/hg38 8q24.12(chr8:119336700-119893839)x3	CCN3, DEPTOR +13 more	Copy number gain	See cases	GUncertain significance
Select item 2588622	NM_022783.4(DEPTOR):c.5A>T (p.Glu2Val)	DEPTOR, LOC113788248 (E2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081762	NM_022783.4(DEPTOR):c.35G>A (p.Ser12Asn)	DEPTOR, LOC113788248 (S12N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540292	NM_022783.4(DEPTOR):c.62G>A (p.Gly21Glu)	DEPTOR, LOC113788248 (G21E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271640	NM_022783.4(DEPTOR):c.78G>T (p.Glu26Asp)	DEPTOR, LOC113788248 (E26D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081771	NM_022783.4(DEPTOR):c.88A>G (p.Met30Val)	DEPTOR, LOC113788248 (M30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323576	NM_022783.4(DEPTOR):c.163C>T (p.His55Tyr)	DEPTOR (H55Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271641	NM_022783.4(DEPTOR):c.175A>T (p.Thr59Ser)	DEPTOR (T59S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487362	NM_022783.4(DEPTOR):c.221T>C (p.Ile74Thr)	DEPTOR (I74T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259508	NM_022783.4(DEPTOR):c.347G>A (p.Arg116His)	DEPTOR (R116H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495578	NM_022783.4(DEPTOR):c.395C>T (p.Ala132Val)	DEPTOR (A132V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621264	NM_022783.4(DEPTOR):c.475G>T (p.Val159Phe)	DEPTOR (V159F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276781	NM_022783.4(DEPTOR):c.486G>C (p.Glu162Asp)	DEPTOR (E61D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081764	NM_022783.4(DEPTOR):c.545C>A (p.Thr182Lys)	DEPTOR (T81K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081765	NM_022783.4(DEPTOR):c.644A>G (p.Tyr215Cys)	DEPTOR (Y114C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081766	NM_022783.4(DEPTOR):c.694A>G (p.Asn232Asp)	DEPTOR (N131D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348140	NM_022783.4(DEPTOR):c.695A>G (p.Asn232Ser)	DEPTOR (N232S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3081767	NM_022783.4(DEPTOR):c.767G>A (p.Arg256Gln)	DEPTOR (R256Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081768	NM_022783.4(DEPTOR):c.807G>T (p.Glu269Asp)	DEPTOR (E168D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081770	NM_022783.4(DEPTOR):c.817G>T (p.Val273Leu)	DEPTOR (V172L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285544	NM_022783.4(DEPTOR):c.821C>G (p.Ser274Cys)	DEPTOR (S173C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311295	NM_022783.4(DEPTOR):c.865T>C (p.Tyr289His)	DEPTOR (Y289H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468931	NM_022783.4(DEPTOR):c.904G>A (p.Val302Met)	DEPTOR (V201M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081772	NM_022783.4(DEPTOR):c.966C>T (p.Pro322=)	DEPTOR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2658783	NM_022783.4(DEPTOR):c.1008C>T (p.Asp336=)	DEPTOR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2362440	NM_022783.4(DEPTOR):c.1010C>T (p.Ala337Val)	DEPTOR (A236V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259724	NM_022783.4(DEPTOR):c.1034G>A (p.Arg345Gln)	DEPTOR (R244Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2329209	NM_022783.4(DEPTOR):c.1087G>A (p.Ala363Thr)	DEPTOR (A363T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081761	NM_022783.4(DEPTOR):c.1129G>A (p.Gly377Arg)	DEPTOR (G377R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454945	NM_022783.4(DEPTOR):c.1135A>G (p.Asn379Asp)	DEPTOR (N379D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245402	NC_000008.10:g.(?_118649470)_(122282519_?)del	CCN3, COL14A1 +12 more	Deletion	Multiple congenital exostosis	GPathogenic
Select item 3063053	GRCh37/hg19 8q24.11-24.22(chr8:118071721-132774256)x1	ADCY8, ANXA13 +51 more	Copy number loss	not specified	GPathogenic
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 2580301	GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1	ANXA13, ATAD2 +41 more	Copy number loss	Exostoses, multiple, type 1	GPathogenic
Select item 1808876	GRCh37/hg19 8q24.11-24.12(chr8:118492577-121075880)x3	CCN3, COLEC10 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1808708	GRCh37/hg19 8q23.3-24.22(chr8:112234557-133668379)x1	AARD, ADCY8 +63 more	Copy number loss	not provided	GPathogenic
Select item 1807843	GRCh37/hg19 8q24.11-24.12(chr8:118645068-121684174)x1	CCN3, COL14A1 +12 more	Copy number loss	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 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 979849	GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3	AARD, ANGPT1 +35 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 815162	GRCh37/hg19 8q24.12(chr8:120577149-120973977)x3	TAF2, DSCC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815154	GRCh37/hg19 8q23.2-24.13(chr8:111514791-123192373)x1	AARD, CCN3 +23 more	Copy number loss	not provided	GPathogenic
Select item 689255	GRCh37/hg19 8q24.12(chr8:120572884-120976352)x3	DEPTOR, DSCC1 +2 more	Copy number gain	not provided	GUncertain significance
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 599306	Single allele	PCAT1, POU5F1B +52 more	Deletion	Trichorhinophalangeal dysplasia type I	GPathogenic
Select item 563549	GRCh37/hg19 8q23.1-24.13(chr8:110250943-123515785)x1	AARD, CCN3 +29 more	Copy number loss	not provided	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 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 441804	GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	RRM2B, SLC30A8 +160 more	Copy number gain	See cases	GPathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 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 395079	GRCh37/hg19 8q24.12(chr8:120602818-120960053)x3	DEPTOR, DSCC1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic

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Items: 86