ADAM8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	LOC130004994, LOC130004995 +361 more	Copy number loss	See cases	GPathogenic
Select item 57447	GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1	ABRAXAS2, ADAM12 +331 more	Copy number loss	See cases	GPathogenic
Select item 155477	GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 58822	GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 155556	GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	ABRAXAS2, ADAM12 +311 more	Copy number loss	See cases	GPathogenic
Select item 146789	GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1	ABRAXAS2, ADAM12 +297 more	Copy number loss	See cases	GPathogenic
Select item 148580	GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1	LOC130005026, LOC130005027 +257 more	Copy number loss	See cases	GPathogenic
Select item 150776	GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1	LOC126861090, LOC126861091 +250 more	Copy number loss	See cases	GPathogenic
Select item 152830	GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3	ADAM12, ADAM8 +241 more	Copy number gain	See cases	GPathogenic
Select item 144259	GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1	ADAM12, ADAM8 +234 more	Copy number loss	See cases	GPathogenic
Select item 3061841	GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1	LOC126861083, LOC126861084 +201 more	Copy number loss	Duane syndrome type 1 +1 more	GPathogenic
Select item 58823	GRCh38/hg38 10q26.2-26.3(chr10:126256585-133613938)x1	ADAM12, ADAM8 +207 more	Copy number loss	See cases	GPathogenic
Select item 144558	GRCh38/hg38 10q26.2-26.3(chr10:126730896-133620609)x1	LOC130005011, LOC130005012 +199 more	Copy number loss	See cases	GPathogenic
Select item 155548	GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)x1	ADAM8, ADGRA1 +199 more	Copy number loss	See cases	GPathogenic
Select item 155174	GRCh38/hg38 10q26.2-26.3(chr10:127435985-133622588)x1	ADAM8, ADGRA1 +192 more	Copy number loss	See cases	GPathogenic
Select item 152433	GRCh38/hg38 10q26.2-26.3(chr10:127664168-133622588)x3	ADAM8, ADGRA1 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 149102	GRCh38/hg38 10q26.2-26.3(chr10:127849717-133622588)x1	ADAM8, ADGRA1 +189 more	Copy number loss	See cases	GPathogenic
Select item 149101	GRCh38/hg38 10q26.2-26.3(chr10:128549913-133622588)x1	LOC130004973, LOC130004974 +170 more	Copy number loss	See cases	GPathogenic
Select item 147736	GRCh38/hg38 10q26.3(chr10:128872419-133564028)x3	ADAM8, ADGRA1 +168 more	Copy number gain	See cases	GPathogenic
Select item 148897	GRCh38/hg38 10q26.3(chr10:129427520-133622588)x1	ADAM8, ADGRA1 +165 more	Copy number loss	See cases	GPathogenic
Select item 146234	GRCh38/hg38 10q26.3(chr10:129549258-133620674)x1	LOC130004974, LOC130004975 +163 more	Copy number loss	See cases	GPathogenic
Select item 58825	GRCh38/hg38 10q26.3(chr10:129673966-133613938)x1	ADAM8, ADGRA1 +158 more	Copy number loss	See cases	GPathogenic
Select item 155487	GRCh38/hg38 10q26.3(chr10:130625650-133613639)x1	ADAM8, ADGRA1 +135 more	Copy number loss	See cases	GUncertain significance
Select item 155695	GRCh38/hg38 10q26.3(chr10:131424682-133613639)x1	ADAM8, ADGRA1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 57314	GRCh38/hg38 10q26.3(chr10:131457361-133620674)x1	ADAM8, ADGRA1 +127 more	Copy number loss	See cases	GPathogenic
Select item 58853	GRCh38/hg38 10q26.3(chr10:131914873-133613938)x1	ADAM8, ADGRA1 +115 more	Copy number loss	See cases	GPathogenic
Select item 146073	GRCh38/hg38 10q26.3(chr10:132178475-133620674)x1	ADAM8, ADGRA1 +105 more	Copy number loss	See cases	GPathogenic
Select item 57950	GRCh38/hg38 10q26.3(chr10:132445383-133398465)x3	ADAM8, ADGRA1 +69 more	Copy number gain	See cases	GUncertain significance
Select item 58854	GRCh38/hg38 10q26.3(chr10:132475849-133620674)x1	ADAM8, ADGRA1 +79 more	Copy number loss	See cases	GPathogenic
Select item 149205	GRCh38/hg38 10q26.3(chr10:132962729-133622588)x1	ADAM8, ADGRA1 +61 more	Copy number loss	See cases	GUncertain significance
Select item 151171	GRCh38/hg38 10q26.3(chr10:133001075-133622588)x3	KNDC1, LOC110599579 +59 more	Copy number gain	See cases	GUncertain significance
Select item 57459	GRCh38/hg38 10q26.3(chr10:133001134-133620674)x1	ADAM8, ADGRA1 +59 more	Copy number loss	See cases	GUncertain significance
Select item 152049	GRCh38/hg38 10q26.3(chr10:133059029-133622588)x3	ADAM8, ADGRA1 +58 more	Copy number gain	See cases	GUncertain significance
Select item 144988	GRCh38/hg38 10q26.3(chr10:133134279-133400512)x1	ADAM8, CALY +40 more	Copy number loss	See cases	GBenign
Select item 2455192	NM_001109.5(ADAM8):c.2459C>T (p.Ala820Val)	ADAM8 (A820V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146158	NM_001109.5(ADAM8):c.2458G>A (p.Ala820Thr)	ADAM8 (A820T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146155	NM_001109.5(ADAM8):c.2452G>C (p.Ala818Pro)	ADAM8 (A818P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266197	NM_001109.5(ADAM8):c.2407G>C (p.Gly803Arg)	ADAM8 (G803R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619498	NM_001109.5(ADAM8):c.2398G>A (p.Gly800Ser)	ADAM8 (G709S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2309956	NM_001109.5(ADAM8):c.2350C>G (p.Pro784Ala)	ADAM8 (A728G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146145	NM_001109.5(ADAM8):c.2338G>C (p.Ala780Pro)	ADAM8 (R724P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786585	NM_001109.5(ADAM8):c.2338G>A (p.Ala780Thr)	ADAM8 (R724H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2399739	NM_001109.5(ADAM8):c.2333C>T (p.Thr778Met)	ADAM8 (T778M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3146135	NM_001109.5(ADAM8):c.2303G>A (p.Arg768Gln)	ADAM8 (R768Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3146133	NM_001109.5(ADAM8):c.2274C>A (p.Ser758Arg)	ADAM8 (S758R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3146131	NM_001109.5(ADAM8):c.2262C>T (p.Val754=)	ADAM8 (H699Y)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2376860	NM_001109.5(ADAM8):c.2243C>T (p.Pro748Leu)	ADAM8 (P683L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146127	NM_001109.5(ADAM8):c.2226G>A (p.Ser742=)	ADAM8 (G687S)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2510424	NM_001109.5(ADAM8):c.2220C>T (p.Ala740=)	ADAM8 (L685F)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3146117	NM_001109.5(ADAM8):c.2203C>T (p.Pro735Ser)	ADAM8 (A679V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463284	NM_001109.5(ADAM8):c.2147C>T (p.Ala716Val)	ADAM8 (A716V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266208	NM_001109.5(ADAM8):c.2133G>A (p.Pro711=)	ADAM8 (G656S)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2267045	NM_001109.5(ADAM8):c.2125C>T (p.Arg709Cys)	ADAM8 (R644C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209644	NM_001109.5(ADAM8):c.2093G>A (p.Arg698His)	ADAM8 (R698H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146108	NM_001109.5(ADAM8):c.2075C>A (p.Pro692His)	ADAM8 (P692H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146103	NM_001109.5(ADAM8):c.2036G>A (p.Arg679His)	ADAM8 (R614H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620339	NM_001109.5(ADAM8):c.1966G>A (p.Val656Ile)	ADAM8 (V591I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208131	NM_001109.5(ADAM8):c.1949C>T (p.Ala650Val)	ADAM8 (A650V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380900	NM_001109.5(ADAM8):c.1922C>T (p.Ala641Val)	ADAM8 (A641V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146092	NM_001109.5(ADAM8):c.1910C>T (p.Pro637Leu)	ADAM8 (P637L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266186	NM_001109.5(ADAM8):c.1898C>T (p.Ala633Val)	ADAM8 (A568V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146091	NM_001109.5(ADAM8):c.1897G>A (p.Ala633Thr)	ADAM8 (A633T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362762	NM_001109.5(ADAM8):c.1879C>G (p.Gln627Glu)	ADAM8 (Q562E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736853	NM_001109.5(ADAM8):c.1873C>T (p.His625Tyr)	ADAM8 (H625Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3146087	NM_001109.5(ADAM8):c.1819G>A (p.Val607Ile)	ADAM8 (V607I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146084	NM_001109.5(ADAM8):c.1802G>A (p.Arg601His)	ADAM8 (R601H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342487	NM_001109.5(ADAM8):c.1801C>T (p.Arg601Cys)	ADAM8 (R601C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263356	NM_001109.5(ADAM8):c.1794G>C (p.Trp598Cys)	ADAM8 (W598C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217629	NM_001109.5(ADAM8):c.1769G>A (p.Arg590Gln)	ADAM8 (R551Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312832	NM_001109.5(ADAM8):c.1753G>A (p.Val585Met)	ADAM8 (V585M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146067	NM_001109.5(ADAM8):c.1745A>G (p.Tyr582Cys)	ADAM8 (Y582C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332513	NM_001109.5(ADAM8):c.1742C>T (p.Ala581Val)	ADAM8 (A581V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249621	NM_001109.5(ADAM8):c.1736G>T (p.Gly579Val)	ADAM8 (G579V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266160	NM_001109.5(ADAM8):c.1718C>T (p.Ala573Val)	ADAM8 (A534V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275514	NM_001109.5(ADAM8):c.1699A>G (p.Ile567Val)	ADAM8 (I528V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480756	NM_001109.5(ADAM8):c.1693A>G (p.Ile565Val)	ADAM8 (I526V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146047	NM_001109.5(ADAM8):c.1651G>A (p.Val551Ile)	ADAM8 (V512I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146043	NM_001109.5(ADAM8):c.1627C>T (p.Arg543Trp)	ADAM8 (R543W +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2556118	NM_001109.5(ADAM8):c.1579G>A (p.Glu527Lys)	ADAM8 (E527K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266178	NM_001109.5(ADAM8):c.1542G>C (p.Gln514His)	ADAM8 (Q475H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146038	NM_001109.5(ADAM8):c.1519G>A (p.Ala507Thr)	ADAM8 (A468T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2641005	NM_001109.5(ADAM8):c.1488G>A (p.Thr496=)	ADAM8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786180	NM_001109.5(ADAM8):c.1468G>A (p.Ala490Thr)	ADAM8 (A451T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2379051	NM_001109.5(ADAM8):c.1370G>A (p.Cys457Tyr)	ADAM8 (C418Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596202	NM_001109.5(ADAM8):c.1351G>A (p.Gly451Ser)	ADAM8 (G451S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263199	NM_001109.5(ADAM8):c.1346C>T (p.Ala449Val)	ADAM8 (A410V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146026	NM_001109.5(ADAM8):c.1298G>A (p.Arg433His)	ADAM8 (R433H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 789613	NM_001109.5(ADAM8):c.1297C>T (p.Arg433Cys)	ADAM8 (R394C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2470241	NM_001109.5(ADAM8):c.1291C>T (p.Arg431Trp)	ADAM8 (R431W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146019	NM_001109.5(ADAM8):c.1276C>T (p.Pro426Ser)	ADAM8 (P387S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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