169026[geneid] - ClinVar

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Search results

Items: 94

	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 154486	GRCh38/hg38 8q23.3-24.11(chr8:116497730-117379167)x1	AARD, EIF3H +19 more	Copy number loss	See cases	GUncertain significance
Select item 3033939	NM_173851.3(SLC30A8):c.64C>T (p.Leu22=)	SLC30A8	Single nucleotide variant (5 prime UTR variant +2 more)	SLC30A8-related disorder	GLikely benign
Select item 791294	NM_173851.3(SLC30A8):c.72T>C (p.Ser24=)	SLC30A8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 141422	NM_173851.3(SLC30A8):c.101_107del (p.Lys34fs)	SLC30A8 (K34fs)	Deletion (5 prime UTR variant +1 more)	Type 2 diabetes mellitus	Gprotective
Select item 3164265	NM_173851.3(SLC30A8):c.109T>C (p.Cys37Arg)	SLC30A8 (C37R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2349270	NM_173851.3(SLC30A8):c.132G>T (p.Glu44Asp)	SLC30A8 (E44D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2345753	NM_173851.3(SLC30A8):c.133C>A (p.Leu45Met)	SLC30A8 (L45M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3319528	NM_173851.3(SLC30A8):c.160C>T (p.His54Tyr)	SLC30A8 (H54Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292284	NM_173851.3(SLC30A8):c.172A>C (p.Lys58Gln)	SLC30A8 (K9Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3319527	NM_173851.3(SLC30A8):c.202G>A (p.Ala68Thr)	SLC30A8 (A19T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403422	NM_173851.3(SLC30A8):c.235G>A (p.Ala79Thr)	SLC30A8 (A79T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726133	NM_173851.3(SLC30A8):c.267C>T (p.Val89=)	SLC30A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3319525	NM_173851.3(SLC30A8):c.277C>T (p.His93Tyr)	SLC30A8 (H93Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164266	NM_173851.3(SLC30A8):c.392G>A (p.Arg131Gln)	SLC30A8 (R131Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 141421	NM_173851.3(SLC30A8):c.412C>T (p.Arg138Ter)	SLC30A8 (R138* +1 more)	Single nucleotide variant (nonsense)	Type 2 diabetes mellitus	Gprotective
Select item 3037198	NM_173851.3(SLC30A8):c.493C>T (p.Arg165Cys)	SLC30A8 (R116C +1 more)	Single nucleotide variant (missense variant)	SLC30A8-related disorder	GBenign
Select item 2544018	NM_173851.3(SLC30A8):c.502T>C (p.Tyr168His)	SLC30A8 (Y119H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2315225	NM_173851.3(SLC30A8):c.544T>C (p.Ser182Pro)	SLC30A8 (S182P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064083	NM_173851.3(SLC30A8):c.592C>T (p.Gln198Ter)	SLC30A8 (Q149* +1 more)	Single nucleotide variant (nonsense)	Type 2 diabetes mellitus	GUncertain significance
Select item 3164267	NM_173851.3(SLC30A8):c.622G>A (p.Val208Ile)	SLC30A8 (V159I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353772	NM_173851.3(SLC30A8):c.632A>G (p.Asn211Ser)	SLC30A8 (N162S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369834	NM_173851.3(SLC30A8):c.646G>A (p.Ala216Thr)	SLC30A8 (A167T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750995	NM_173851.3(SLC30A8):c.672T>C (p.Asp224=)	SLC30A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3164268	NM_173851.3(SLC30A8):c.714C>G (p.Ile238Met)	SLC30A8 (I238M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541227	NM_173851.3(SLC30A8):c.746C>T (p.Pro249Leu)	SLC30A8 (P200L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323180	NM_173851.3(SLC30A8):c.755C>T (p.Thr252Ile)	SLC30A8 (T252I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236763	NM_173851.3(SLC30A8):c.835C>T (p.Pro279Ser)	SLC30A8 (P230S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469356	NM_173851.3(SLC30A8):c.883G>A (p.Asp295Asn)	SLC30A8 (D295N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709066	NM_173851.3(SLC30A8):c.928A>G (p.Met310Val)	SLC30A8 (M261V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2217208	NM_173851.3(SLC30A8):c.970A>G (p.Ser324Gly)	SLC30A8 (S275G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1000	NM_173851.3(SLC30A8):c.973C>T (p.Arg325Trp)	SLC30A8 (R325W +1 more)	Single nucleotide variant (missense variant)	SLC30A8-related disorder	GBenign
Select item 3038448	NM_173851.3(SLC30A8):c.974G>A (p.Arg325Gln)	SLC30A8 (R276Q +1 more)	Single nucleotide variant (missense variant)	SLC30A8-related disorder	GBenign
Select item 2209121	NM_173851.3(SLC30A8):c.980G>C (p.Ser327Thr)	SLC30A8 (S327T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164269	NM_173851.3(SLC30A8):c.992G>A (p.Arg331Gln)	SLC30A8 (R331Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658774	NM_173851.3(SLC30A8):c.1080C>T (p.Asp360=)	SLC30A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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	GSDMC, LY6D +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 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 815156	GRCh37/hg19 8q24.11(chr8:117972807-118034031)x1	SLC30A8	Copy number loss	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 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 253639	GRCh37/hg19 8q24.11(chr8:117714768-119072307)x1	RAD21, UTP23 +5 more	Copy number loss	See cases	GPathogenic

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Items: 94