26011[HGNC] - ClinVar

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Items: 89

	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 58431	GRCh38/hg38 8q23.1-23.2(chr8:107356178-110913494)x3	ANGPT1, EBAG9 +32 more	Copy number gain	See cases	GUncertain significance
Select item 153936	GRCh38/hg38 8q23.1-23.2(chr8:108988194-109697085)x3	EBAG9, ENY2 +15 more	Copy number gain	See cases	GLikely benign
Select item 3172536	NM_001099754.2(SYBU):c.1987A>G (p.Thr663Ala)	LOC130000974, SYBU (T500A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482028	NM_001099754.2(SYBU):c.1898C>T (p.Thr633Met)	LOC130000974, SYBU (T632M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172535	NM_001099754.2(SYBU):c.1864G>T (p.Val622Phe)	LOC130000974, SYBU (V492F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323810	NM_001099754.2(SYBU):c.1852G>A (p.Val618Met)	LOC130000974, SYBU (V615M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658755	NM_001099754.2(SYBU):c.1835T>C (p.Leu612Pro)	SYBU (L449P +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3172534	NM_001099754.2(SYBU):c.1792G>A (p.Val598Ile)	SYBU (V435I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172533	NM_001099754.2(SYBU):c.1786G>A (p.Gly596Arg)	SYBU (G466R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411368	NM_001099754.2(SYBU):c.1701A>C (p.Glu567Asp)	SYBU (E404D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473996	NM_001099754.2(SYBU):c.1643C>A (p.Pro548Gln)	SYBU (P545Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323808	NM_001099754.2(SYBU):c.1604C>A (p.Ser535Tyr)	SYBU (S372Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456857	NM_001099754.2(SYBU):c.1594T>C (p.Phe532Leu)	SYBU (F369L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482890	NM_001099754.2(SYBU):c.1556C>T (p.Ala519Val)	SYBU (A519V +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2494079	NM_001099754.2(SYBU):c.1533G>C (p.Gln511His)	SYBU (Q511H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350122	NM_001099754.2(SYBU):c.1503G>T (p.Glu501Asp)	SYBU (E382D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512043	NM_001099754.2(SYBU):c.1443T>A (p.Ser481Arg)	SYBU (S318R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392071	NM_001099754.2(SYBU):c.1393G>A (p.Ala465Thr)	SYBU (A335T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172531	NM_001099754.2(SYBU):c.1390G>A (p.Gly464Arg)	SYBU (G345R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172530	NM_001099754.2(SYBU):c.1375G>C (p.Val459Leu)	SYBU (V329L +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2532126	NM_001099754.2(SYBU):c.1375G>A (p.Val459Met)	SYBU (V340M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323809	NM_001099754.2(SYBU):c.1349C>A (p.Thr450Asn)	SYBU (T447N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396766	NM_001099754.2(SYBU):c.1327G>A (p.Asp443Asn)	SYBU (D313N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172528	NM_001099754.2(SYBU):c.1216C>G (p.Pro406Ala)	SYBU (P405A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227623	NM_001099754.2(SYBU):c.1205C>T (p.Thr402Ile)	SYBU (T399I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790265	NM_001099754.2(SYBU):c.1158C>T (p.Asp386=)	SYBU	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3172527	NM_001099754.2(SYBU):c.1127T>C (p.Met376Thr)	SYBU (M213T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323811	NM_001099754.2(SYBU):c.1066C>G (p.Gln356Glu)	SYBU (Q237E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480557	NM_001099754.2(SYBU):c.1034G>A (p.Arg345Gln)	SYBU (R215Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172526	NM_001099754.2(SYBU):c.1004A>C (p.Lys335Thr)	SYBU (K216T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323812	NM_001099754.2(SYBU):c.997G>A (p.Glu333Lys)	SYBU (E214K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310107	NM_001099754.2(SYBU):c.923G>A (p.Arg308His)	SYBU (R145H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590672	NM_001099754.2(SYBU):c.869G>A (p.Arg290His)	SYBU (R160H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593453	NM_001099754.2(SYBU):c.866A>T (p.Glu289Val)	SYBU (E288V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172539	NM_001099754.2(SYBU):c.760G>A (p.Gly254Ser)	SYBU (G124S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372764	NM_001099754.2(SYBU):c.736C>T (p.Arg246Cys)	SYBU (R246C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790266	NM_001099754.2(SYBU):c.611T>C (p.Leu204Pro)	SYBU (L201P +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2509052	NM_001099754.2(SYBU):c.536G>T (p.Gly179Val)	SYBU (G16V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544428	NM_001099754.2(SYBU):c.491T>C (p.Met164Thr)	SYBU (M164T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359823	NM_001099754.2(SYBU):c.380A>G (p.Gln127Arg)	SYBU (Q127R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323814	NM_001099754.2(SYBU):c.376A>G (p.Ile126Val)	SYBU (I7V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312914	NM_001099754.2(SYBU):c.335C>T (p.Thr112Ile)	SYBU (T111I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172538	NM_001099754.2(SYBU):c.329G>C (p.Gly110Ala)	SYBU (G107A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323813	NM_001099754.2(SYBU):c.286G>A (p.Ala96Thr)	SYBU (A96T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3172537	NM_001099754.2(SYBU):c.268G>A (p.Val90Met)	SYBU (V90M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 719719	NM_001099754.2(SYBU):c.246T>C (p.Pro82=)	SYBU	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3323815	NM_001099754.2(SYBU):c.182G>C (p.Ser61Thr)	SYBU (S61T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172532	NM_001099754.2(SYBU):c.176C>G (p.Pro59Arg)	SYBU (P56R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542188	NM_001099754.2(SYBU):c.153G>C (p.Glu51Asp)	SYBU (E48D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209953	NM_001099754.2(SYBU):c.113A>G (p.Gln38Arg)	SYBU (Q38R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 979849	GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3	AARD, ANGPT1 +35 more	Copy number gain	not provided	GPathogenic
Select item 815153	GRCh37/hg19 8q23.2(chr8:110604492-110919043)x3	SYBU	Copy number gain	not provided	GUncertain significance
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 686305	GRCh37/hg19 8q22.3-23.3(chr8:104437051-114170843)x1	ABRA, ANGPT1 +20 more	Copy number loss	not provided	GUncertain significance
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	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 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

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Items: 89