22953[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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 specified +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 86