AARD[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	LOC130001211, LOC130001212 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130001139, LOC130001140 +1686 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC126860518, LOC126860519 +1552 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1152 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130000964, LOC130000965 +1531 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	LOC130001371, LOC130001372 +1329 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130001420, LOC130001421 +1204 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001415, LOC130001416 +1067 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 +314 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	LOC124188223, LOC124188224 +961 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	CCN3, CCN4 +558 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 154486	GRCh38/hg38 8q23.3-24.11(chr8:116497730-117379167)x1	AARD, EIF3H +19 more	Copy number loss	See cases	GUncertain significance
Select item 768256	NM_001025357.3(AARD):c.210G>A (p.Ala70=)	AARD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2257439	NM_001025357.3(AARD):c.212T>C (p.Val71Ala)	AARD (V71A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134862	NM_001025357.3(AARD):c.254C>G (p.Ala85Gly)	AARD, LOC130000997 (A85G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134892	NM_001025357.3(AARD):c.274C>G (p.Gln92Glu)	AARD, LOC130000997 (Q92E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134916	NM_001025357.3(AARD):c.299C>T (p.Thr100Ile)	AARD, LOC130000997 (T100I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273393	NM_001025357.3(AARD):c.388C>A (p.Gln130Lys)	AARD (Q130K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134937	NM_001025357.3(AARD):c.461C>T (p.Pro154Leu)	AARD (P154L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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	LY6E, LY6H +173 more	Copy number gain	not provided	GPathogenic
Select item 2424480	NC_000008.10:g.(?_117859739)_(120844804_?)del	AARD, CCN3 +10 more	Deletion	not provided	GPathogenic
Select item 2422394	NC_000008.10:g.(?_117647788)_(120797526_?)dup	AARD, CCN3 +12 more	Duplication	Multiple congenital exostosis	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 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 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 1527461	GRCh37/hg19 8q23.1-24.12(chr8:107032887-120742018)	AARD, ABRA +28 more	Copy number loss	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 1341181	GRCh37/hg19 8q23.3-24.11(chr8:117255161-118322087)x3	AARD, EIF3H +4 more	Copy number gain	not provided	GUncertain significance
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 815154	GRCh37/hg19 8q23.2-24.13(chr8:111514791-123192373)x1	AARD, CCN3 +23 more	Copy number loss	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +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	KCNQ3, KCNS2 +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	PPDPFL, PPP1R16A +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	AARD, ABRA +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 441733	GRCh37/hg19 8q23.2-24.12(chr8:111137305-119897611)x1	AARD, CSMD3 +9 more	Copy number loss	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	CLDN23, LONRF1 +665 more	Copy number gain	See cases	GPathogenic
Select item 253639	GRCh37/hg19 8q24.11(chr8:117714768-119072307)x1	RAD21, UTP23 +5 more	Copy number loss	See cases	GPathogenic

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Items: 61