SQLE[gene] - ClinVar

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Items: 83

	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 60403	GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1	AARD, ANXA13 +315 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 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	LOC130001241, LOC130001242 +559 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 144138	GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3	ANXA13, ATAD2 +286 more	Copy number gain	See cases	GPathogenic
Select item 57127	GRCh38/hg38 8q24.13(chr8:124125245-125337217)x3	FER1L6-AS2, LINC00964 +78 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 144941	GRCh38/hg38 8q24.13(chr8:124895891-125399814)x3	LINC00964, LOC105375742 +29 more	Copy number gain	See cases	GUncertain significance
Select item 2553626	NM_003129.4(SQLE):c.76A>G (p.Arg26Gly)	SQLE (R26G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169784	NM_003129.4(SQLE):c.139C>T (p.Arg47Cys)	SQLE (R47C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322547	NM_003129.4(SQLE):c.241G>A (p.Ala81Thr)	SQLE (A81T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297111	NM_003129.4(SQLE):c.344G>C (p.Cys115Ser)	SQLE (C115S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2219943	NM_003129.4(SQLE):c.542G>A (p.Gly181Glu)	SQLE (G181E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2297493	NM_003129.4(SQLE):c.742G>A (p.Gly248Ser)	SQLE (G248S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332024	NM_003129.4(SQLE):c.766G>A (p.Glu256Lys)	SQLE (E256K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394005	NM_003129.4(SQLE):c.776T>A (p.Val259Asp)	SQLE (V259D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169789	NM_003129.4(SQLE):c.818T>C (p.Ile273Thr)	SQLE (I273T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364021	NM_003129.4(SQLE):c.839T>G (p.Leu280Arg)	SQLE (L280R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317459	NM_003129.4(SQLE):c.947A>T (p.Gln316Leu)	SQLE (Q316L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515782	NM_003129.4(SQLE):c.985C>T (p.Pro329Ser)	SQLE (P329S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465891	NM_003129.4(SQLE):c.986C>T (p.Pro329Leu)	SQLE (P329L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658799	NM_003129.4(SQLE):c.1074A>G (p.Glu358=)	SQLE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3322548	NM_003129.4(SQLE):c.1201C>G (p.Arg401Gly)	SQLE (R401G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322545	NM_003129.4(SQLE):c.1275T>A (p.Phe425Leu)	SQLE (F425L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2342913	NM_003129.4(SQLE):c.1345G>A (p.Glu449Lys)	SQLE (E449K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468231	NM_003129.4(SQLE):c.1373G>C (p.Arg458Thr)	SQLE (R458T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169785	NM_003129.4(SQLE):c.1433C>G (p.Ser478Cys)	SQLE (S478C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402553	NM_003129.4(SQLE):c.1442A>T (p.Asp481Val)	SQLE (D481V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169786	NM_003129.4(SQLE):c.1446T>A (p.Asp482Glu)	SQLE (D482E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322546	NM_003129.4(SQLE):c.1582A>G (p.Ile528Val)	SQLE (I528V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2525165	NM_003129.4(SQLE):c.1657G>A (p.Val553Ile)	SQLE (V553I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169787	NM_003129.4(SQLE):c.1717G>T (p.Val573Phe)	SQLE (V573F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245610	NC_000008.10:g.(?_124515613)_(126379127_?)del	ANXA13, FAM91A1 +13 more	Deletion	not provided	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 3063026	GRCh37/hg19 8q24.13(chr8:125898137-126447429)x3	NSMCE2, SQLE +3 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 2671975	GRCh37/hg19 8q24.13-24.21(chr8:124534271-129054138)x4	ANXA13, FAM91A1 +19 more	Copy number gain	Distal trisomy 8q	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 2427513	NC_000008.10:g.(?_124515613)_(126379127_?)dup	ANXA13, FAM91A1 +13 more	Duplication	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 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 815165	GRCh37/hg19 8q24.13(chr8:125584474-126043912)x1	ZNF572, SQLE +2 more	Copy number loss	not provided	GUncertain significance
Select item 815164	GRCh37/hg19 8q24.13(chr8:124878368-126737708)x3	TRIB1, FER1L6 +10 more	Copy number gain	not provided	GUncertain significance
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 687747	GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1	ADCY8, ANXA13 +43 more	Copy number loss	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 687465	GRCh37/hg19 8q24.13-24.21(chr8:123074293-131113892)x1	ANXA13, ASAP1 +31 more	Copy number loss	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 599306	Single allele	PCAT1, POU5F1B +52 more	Deletion	Trichorhinophalangeal dysplasia type I	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 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 443122	GRCh37/hg19 8q24.13-24.21(chr8:125539280-128129372)x1	LRATD2, MTSS1 +8 more	Copy number loss	See cases	GUncertain significance
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 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: 83