31750[HGNC] - ClinVar

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Items: 85

	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 145845	GRCh38/hg38 8q24.11(chr8:118190541-118231528)x3	SAMD12	Copy number gain	See cases	GLikely benign
Select item 872917	NC_000008.10:g.119379055_119379157TGAAA[149]TAAAA[446]	SAMD12	Microsatellite	Epilepsy, familial adult myoclonic, 1	GPathogenic
Select item 2326324	NM_207506.3(SAMD12):c.602T>A (p.Ile201Asn)	SAMD12 (I201N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3157642	NM_207506.3(SAMD12):c.599A>G (p.Gln200Arg)	SAMD12 (Q200R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3316077	NM_207506.3(SAMD12):c.596T>C (p.Ile199Thr)	SAMD12 (I199T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3316079	NM_207506.3(SAMD12):c.406C>A (p.Gln136Lys)	SAMD12 (Q126K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550619	NM_207506.3(SAMD12):c.365T>C (p.Met122Thr)	SAMD12 (M122T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1690471	NM_207506.3(SAMD12):c.365T>A (p.Met122Lys)	SAMD12 (M112K +1 more)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 3067929	NM_207506.3(SAMD12):c.362G>T (p.Arg121Leu)	SAMD12 (R111L +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 1	GUncertain significance
Select item 151540	GRCh38/hg38 8q24.12(chr8:118406090-118413358)x1	SAMD12	Copy number loss	See cases	GLikely benign
Select item 2658776	NM_207506.3(SAMD12):c.320C>T (p.Thr107Ile)	LOC126860479, SAMD12 (T107I)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3316078	NM_207506.3(SAMD12):c.292A>C (p.Ser98Arg)	LOC126860479, SAMD12 (S98R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2271222	NM_207506.3(SAMD12):c.292A>T (p.Ser98Cys)	LOC126860479, SAMD12 (R98W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3234769	NM_207506.3(SAMD12):c.258G>C (p.Leu86Phe)	LOC126860479, SAMD12 (L86F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2600815	NM_207506.3(SAMD12):c.164G>A (p.Arg55Gln)	SAMD12 (R55Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2538436	NM_207506.3(SAMD12):c.145C>A (p.Gln49Lys)	SAMD12 (Q49K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472902	NM_207506.3(SAMD12):c.106C>G (p.Gln36Glu)	SAMD12 (Q36E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410033	NM_207506.3(SAMD12):c.70A>G (p.Ile24Val)	SAMD12 (I24V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552012	NM_207506.3(SAMD12):c.40G>A (p.Gly14Ser)	SAMD12 (G14S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1696749	NM_207506.3(SAMD12):c.13+16544C>A	SAMD12	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 1	GUncertain significance
Select item 3245563	NC_000008.10:g.(?_116426251)_(119965024_?)del	AARD, EIF3H +9 more	Deletion	not provided	GPathogenic
Select item 3245509	NC_000008.10:g.(?_116426251)_(120844804_?)del	CCN3, AARD +14 more	Deletion	Trichorhinophalangeal syndrome, type III +1 more	GPathogenic
Select item 3245404	NC_000008.10:g.(?_116426251)_(120844804_?)dup	AARD, CCN3 +14 more	Duplication	Trichorhinophalangeal syndrome, type III +2 more	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	GML, KCNQ3 +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 2424480	NC_000008.10:g.(?_117859739)_(120844804_?)del	AARD, CCN3 +10 more	Deletion	not provided	GPathogenic
Select item 2424479	NC_000008.10:g.(?_118811951)_(120844804_?)dup	CCN3, COLEC10 +6 more	Duplication	not provided	GUncertain significance
Select item 2422394	NC_000008.10:g.(?_117647788)_(120797526_?)dup	AARD, CCN3 +12 more	Duplication	Multiple congenital exostosis	GUncertain significance
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 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 1340889	GRCh37/hg19 8q24.11-24.12(chr8:119147746-119622996)x3	SAMD12	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 815160	GRCh37/hg19 8q24.11-24.12(chr8:119145884-119620621)x3	SAMD12	Copy number gain	not provided	GUncertain significance
Select item 815158	GRCh37/hg19 8q24.11-24.12(chr8:118466438-119966333)x1	SAMD12, TNFRSF11B +2 more	Copy number loss	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 800660	NC_000008.10:g.119379055_119379157TGAAA[100_?]TAAAA[40_?]	SAMD12	Microsatellite	Epilepsy, familial adult myoclonic, 1	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 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 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	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 560216	SAMD12, 5-BP INS, TTTCA(n) REPEAT EXPANSION, IVS4	SAMD12	Microsatellite	Epilepsy, familial adult myoclonic, 1	GPathogenic

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Items: 85