2220[HGNC] - ClinVar

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Items: 84

	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 60406	GRCh38/hg38 8q24.11-24.13(chr8:118059192-121574437)x1	CCN3, COL14A1 +55 more	Copy number loss	See cases	GPathogenic
Select item 151127	GRCh38/hg38 8q24.12(chr8:118626991-119703035)x3	CCN3, COLEC10 +16 more	Copy number gain	See cases	GUncertain significance
Select item 6968	nsv513786	COLEC10, TNFRSF11B	Deletion	Hyperphosphatasemia with bone disease	GPathogenic
Select item 417733	NM_006438.5(COLEC10):c.25C>T (p.Arg9Ter)	COLEC10, LOC101927513 +1 more (R9*)	Single nucleotide variant (nonsense +1 more)	See cases +1 more	GPathogenic/Likely pathogenic
Select item 2535984	NM_006438.5(COLEC10):c.73A>G (p.Ser25Gly)	COLEC10, LOC101927513 +1 more (S25G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258879	NM_006438.5(COLEC10):c.106G>A (p.Ala36Thr)	COLEC10, LOC101927513 +1 more (A36T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3147842	NM_006438.5(COLEC10):c.110A>C (p.Glu37Ala)	COLEC10, LOC101927513 +1 more (E37A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 992663	NM_006438.5(COLEC10):c.128_129del (p.Thr43fs)	COLEC10, LOC101927513 +1 more (T43fs)	Microsatellite (frameshift variant +1 more)	3MC syndrome 3	GPathogenic
Select item 3147843	NM_006438.5(COLEC10):c.121A>G (p.Thr41Ala)	COLEC10, LOC101927513 +1 more (T41A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1678421	NM_006438.5(COLEC10):c.149-7945A>C	COLEC10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 783530	NM_006438.5(COLEC10):c.216G>A (p.Pro72=)	COLEC10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 417734	NM_006438.5(COLEC10):c.228del (p.Gly77fs)	COLEC10 (G77fs +1 more)	Deletion (frameshift variant)	3MC syndrome 3	GPathogenic
Select item 3147844	NM_006438.5(COLEC10):c.286A>G (p.Lys96Glu)	COLEC10 (K27E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065389	NM_006438.5(COLEC10):c.310G>A (p.Gly104Ser)	COLEC10 (G104S +1 more)	Single nucleotide variant (missense variant)	3MC syndrome 3	GUncertain significance
Select item 3147845	NM_006438.5(COLEC10):c.324A>G (p.Ile108Met)	COLEC10 (I108M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147846	NM_006438.5(COLEC10):c.326C>G (p.Pro109Arg)	COLEC10 (P109R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773765	NM_006438.5(COLEC10):c.346+5G>A	COLEC10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3147847	NM_006438.5(COLEC10):c.355T>A (p.Cys119Ser)	COLEC10 (C50S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055343	NM_006438.5(COLEC10):c.390A>G (p.Gln130=)	COLEC10	Single nucleotide variant (synonymous variant)	COLEC10-related disorder	GBenign
Select item 2222250	NM_006438.5(COLEC10):c.410G>A (p.Arg137Gln)	COLEC10 (R68Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658777	NM_006438.5(COLEC10):c.420A>T (p.Thr140=)	COLEC10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2361697	NM_006438.5(COLEC10):c.497A>G (p.Glu166Gly)	COLEC10 (E166G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277522	NM_006438.5(COLEC10):c.511G>C (p.Glu171Gln)	COLEC10 (E102Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725034	NM_006438.5(COLEC10):c.525C>T (p.His175=)	COLEC10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 417735	NM_006438.5(COLEC10):c.528C>G (p.Cys176Trp)	COLEC10 (C176W +1 more)	Single nucleotide variant (missense variant)	3MC syndrome 3	GPathogenic
Select item 709347	NM_006438.5(COLEC10):c.535C>T (p.Arg179Trp)	COLEC10 (R179W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1695236	NM_006438.5(COLEC10):c.759C>T (p.Ser253=)	COLEC10	Single nucleotide variant (synonymous variant)	COLEC10-related disorder +1 more	GLikely benign
Select item 2489263	NM_006438.5(COLEC10):c.784T>G (p.Cys262Gly)	COLEC10 (C262G +1 more)	Single nucleotide variant (missense variant)	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	MTBP, MTSS1 +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 979849	GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3	AARD, ANGPT1 +35 more	Copy number gain	not provided	GPathogenic
Select item 815161	GRCh37/hg19 8q24.12(chr8:120033380-120142448)x1	COLEC10	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	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 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 393865	GRCh37/hg19 8q24.12(chr8:119936372-120651018)x3	CCN3, COLEC10 +3 more	Copy number gain	See cases	GUncertain significance

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Items: 84