LRATD2[gene] - ClinVar

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

Search results

Items: 73

	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 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 151043	GRCh38/hg38 8q24.21(chr8:126533658-126716129)x3	LOC105375751, LOC124188228 +4 more	Copy number gain	See cases	GLikely benign
Select item 2463691	NM_174911.5(LRATD2):c.892C>T (p.Pro298Ser)	LOC130001122, LRATD2 (P298S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119839	NM_174911.5(LRATD2):c.869C>T (p.Pro290Leu)	LOC130001122, LRATD2 (P290L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119838	NM_174911.5(LRATD2):c.833C>T (p.Pro278Leu)	LRATD2 (P278L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119837	NM_174911.5(LRATD2):c.778A>T (p.Ile260Phe)	LRATD2 (I260F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291207	NM_174911.5(LRATD2):c.604G>C (p.Glu202Gln)	LOC130001123, LRATD2 (E202Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476171	NM_174911.5(LRATD2):c.541G>A (p.Val181Met)	LOC130001123, LRATD2 (V181M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615726	NM_174911.5(LRATD2):c.508C>G (p.Leu170Val)	LOC130001123, LRATD2 (L170V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119836	NM_174911.5(LRATD2):c.487C>A (p.Arg163Ser)	LRATD2 (R163S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119835	NM_174911.5(LRATD2):c.416A>G (p.Asn139Ser)	LRATD2 (N139S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 441138	NM_174911.5(LRATD2):c.391_392dup (p.His132fs)	LOC105375751, LRATD2 (H132fs)	Duplication (frameshift variant +1 more)	not provided	Gnot provided
Select item 3119833	NM_174911.5(LRATD2):c.342C>G (p.Asn114Lys)	LRATD2 (N114K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119832	NM_174911.5(LRATD2):c.337C>T (p.Leu113Phe)	LRATD2 (L113F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467884	NM_174911.5(LRATD2):c.241G>T (p.Val81Leu)	LRATD2 (V81L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291208	NM_174911.5(LRATD2):c.217C>T (p.Pro73Ser)	LRATD2 (P73S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291209	NM_174911.5(LRATD2):c.181G>A (p.Asp61Asn)	LRATD2 (D61N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119831	NM_174911.5(LRATD2):c.178C>T (p.Pro60Ser)	LRATD2 (P60S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2671975	GRCh37/hg19 8q24.13-24.21(chr8:124534271-129054138)x4	ANXA13, FAM91A1 +19 more	Copy number gain	Distal trisomy 8q	GPathogenic
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 1341186	GRCh37/hg19 8q24.21(chr8:127511861-128100345)x3	LRATD2, PCAT1	Copy number gain	not provided	GUncertain significance
Select item 815168	GRCh37/hg19 8q24.21(chr8:127500924-127712595)x3	LRATD2	Copy number gain	not provided	GUncertain significance
Select item 815167	GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1	ADCY8, ADGRB1 +39 more	Copy number loss	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 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 625635	GRCh37/hg19 8q24.13-24.21(chr8:127185755-128672802)	LRATD2, PCAT1 +1 more	Copy number loss	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 443192	GRCh37/hg19 8q24.13-24.21(chr8:127103853-127670426)x1	LRATD2	Copy number loss	See cases	GUncertain significance
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

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: 73