ClinVar for Gene (Select 54540) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277346	NM_001190946.3(FAM193B):c.1021T>G (p.Cys341Gly)	FAM193B (C228G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277345	NM_001190946.3(FAM193B):c.1109A>C (p.His370Pro)	FAM193B (H370P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277344	NM_001190946.3(FAM193B):c.637T>G (p.Ser213Ala)	FAM193B (S100A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277343	NM_001190946.3(FAM193B):c.34G>T (p.Ala12Ser)	FAM193B (A12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277342	NM_001190946.3(FAM193B):c.1820C>A (p.Pro607His)	FAM193B (P687H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277341	NM_001190946.3(FAM193B):c.833T>C (p.Leu278Pro)	FAM193B (L165P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277340	NM_001190946.3(FAM193B):c.547T>C (p.Ser183Pro)	FAM193B (S70P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277338	NM_001190946.3(FAM193B):c.1549C>A (p.Pro517Thr)	FAM193B (P143T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277337	NM_001190946.3(FAM193B):c.1460G>C (p.Arg487Pro)	FAM193B (R567P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277336	NM_001190946.3(FAM193B):c.1010G>C (p.Cys337Ser)	FAM193B (C337S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277335	NM_001190946.3(FAM193B):c.2177G>A (p.Arg726Gln)	FAM193B (R352Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277334	NM_001190946.3(FAM193B):c.1811C>T (p.Pro604Leu)	FAM193B (P684L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242320	GRCh37/hg19 5q35.2-35.3(chr5:175470000-177450000)x1	ARL10, B4GALT7 +37 more	Copy number loss	not provided	GPathogenic
Select item 3092239	NM_001190946.3(FAM193B):c.887C>G (p.Ala296Gly)	FAM193B (A296G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092238	NM_001190946.3(FAM193B):c.769C>G (p.Gln257Glu)	FAM193B (Q144E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092237	NM_001190946.3(FAM193B):c.646G>T (p.Ala216Ser)	FAM193B (A216S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092236	NM_001190946.3(FAM193B):c.614C>T (p.Ser205Leu)	FAM193B (S205L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092235	NM_001190946.3(FAM193B):c.412G>A (p.Glu138Lys)	FAM193B (E25K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3092234	NM_001190946.3(FAM193B):c.385G>A (p.Val129Ile)	FAM193B (V129I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3092232	NM_001190946.3(FAM193B):c.2005G>A (p.Ala669Thr)	FAM193B (A295T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092231	NM_001190946.3(FAM193B):c.1961G>A (p.Arg654Gln)	FAM193B (R280Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3092230	NM_001190946.3(FAM193B):c.1397G>A (p.Arg466Gln)	FAM193B (R433Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092229	NM_001190946.3(FAM193B):c.1396C>T (p.Arg466Trp)	FAM193B (R546W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092227	NM_001190946.3(FAM193B):c.1340G>A (p.Arg447Gln)	FAM193B (R447Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3092226	NM_001190946.3(FAM193B):c.1214C>T (p.Thr405Ile)	FAM193B (T292I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092225	NM_001190946.3(FAM193B):c.1128G>C (p.Gln376His)	FAM193B (Q376H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092224	NM_001190946.3(FAM193B):c.1117C>A (p.Leu373Met)	FAM193B (L373M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092223	NM_001190946.3(FAM193B):c.1088G>A (p.Cys363Tyr)	FAM193B (C363Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062847	GRCh37/hg19 5q35.3(chr5:176744569-177107777)x3	B4GALT7, DBN1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 3062841	GRCh37/hg19 5q35.2-35.3(chr5:176385815-178410738)x1	B4GALT7, CLK4 +33 more	Copy number loss	not specified	GPathogenic
Select item 2685186	GRCh37/hg19 5q35.2-35.3(chr5:175332333-177469711)x1	ARL10, B4GALT7 +38 more	Copy number loss	not provided	GPathogenic
Select item 2671584	Single allele	FAM193B, GPRIN1 +36 more	Deletion	not provided	GPathogenic
Select item 2623448	NM_001190946.3(FAM193B):c.826C>T (p.His276Tyr)	FAM193B (H276Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614994	NM_001190946.3(FAM193B):c.801C>A (p.Ser267Arg)	FAM193B (S154R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607221	NM_001190946.3(FAM193B):c.1958C>T (p.Pro653Leu)	FAM193B (P279L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604489	NM_001190946.3(FAM193B):c.602C>T (p.Ala201Val)	FAM193B (A201V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558806	NM_001190946.3(FAM193B):c.986G>A (p.Cys329Tyr)	FAM193B (C216Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551404	NM_001190946.3(FAM193B):c.2459C>T (p.Thr820Ile)	FAM193B (T446I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544757	NM_001190946.3(FAM193B):c.7C>T (p.Arg3Trp)	FAM193B (R3W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528098	NM_001190946.3(FAM193B):c.2225A>G (p.Gln742Arg)	FAM193B (Q742R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526537	NM_001190946.3(FAM193B):c.2071G>A (p.Glu691Lys)	FAM193B (E317K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522781	NM_001190946.3(FAM193B):c.1921G>A (p.Gly641Ser)	FAM193B (G267S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521484	NM_001190946.3(FAM193B):c.191A>G (p.Asn64Ser)	FAM193B (N64S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516220	NM_001190946.3(FAM193B):c.974C>T (p.Pro325Leu)	FAM193B (P212L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513559	NM_001190946.3(FAM193B):c.809G>C (p.Gly270Ala)	FAM193B (G157A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488950	NM_001190946.3(FAM193B):c.749G>T (p.Ser250Ile)	FAM193B (S137I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474080	NM_001190946.3(FAM193B):c.1324C>T (p.Arg442Cys)	FAM193B (R409C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469683	NM_001190946.3(FAM193B):c.1784G>A (p.Arg595Gln)	FAM193B (R221Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466830	NM_001190946.3(FAM193B):c.757G>A (p.Gly253Ser)	FAM193B (G140S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426758	NC_000005.9:g.(?_176618865)_(177036696_?)dup	B4GALT7, DBN1 +16 more	Duplication	Sotos syndrome	GUncertain significance
Select item 2425922	NC_000005.9:g.(?_175158654)_(179263593_?)dup	PDLIM7, PFN3 +63 more	Duplication	not provided	GUncertain significance
Select item 2424617	NC_000005.9:g.(?_176289625)_(177151363_?)del	B4GALT7, DBN1 +22 more	Deletion	Sotos syndrome	GPathogenic
Select item 2411743	NM_001190946.3(FAM193B):c.670A>T (p.Ser224Cys)	FAM193B (S224C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396357	NM_001190946.3(FAM193B):c.845C>T (p.Pro282Leu)	FAM193B (P169L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366256	NM_001190946.3(FAM193B):c.2456G>A (p.Ser819Asn)	FAM193B (S899N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364509	NM_001190946.3(FAM193B):c.59C>T (p.Ala20Val)	FAM193B (A20V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363818	NM_001190946.3(FAM193B):c.187C>G (p.Pro63Ala)	FAM193B (P63A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362441	NM_001190946.3(FAM193B):c.932A>G (p.His311Arg)	FAM193B (H198R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359837	NM_001190946.3(FAM193B):c.765C>G (p.His255Gln)	FAM193B (H142Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2342900	NM_001190946.3(FAM193B):c.1393G>A (p.Asp465Asn)	FAM193B (D465N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342899	NM_001190946.3(FAM193B):c.1043C>T (p.Pro348Leu)	FAM193B (P348L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334207	NM_001190946.3(FAM193B):c.1726G>A (p.Gly576Ser)	FAM193B (G543S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323978	NM_001190946.3(FAM193B):c.331C>T (p.Pro111Ser)	FAM193B (P111S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2309100	NM_001190946.3(FAM193B):c.995C>T (p.Pro332Leu)	FAM193B (P219L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306404	NM_001190946.3(FAM193B):c.1717C>T (p.Pro573Ser)	FAM193B (P573S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291591	NM_001190946.3(FAM193B):c.2081G>A (p.Arg694Gln)	FAM193B (R661Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255589	NM_001190946.3(FAM193B):c.1459C>T (p.Arg487Cys)	FAM193B (R487C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244140	NM_001190946.3(FAM193B):c.1009T>C (p.Cys337Arg)	FAM193B (C224R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238348	NM_001190946.3(FAM193B):c.2069G>A (p.Gly690Glu)	FAM193B (G316E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222844	NM_001190946.3(FAM193B):c.2255G>A (p.Arg752His)	FAM193B (R752H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808750	GRCh37/hg19 5q35.2-35.3(chr5:176516440-177773252)x3	B4GALT7, COL23A1 +25 more	Copy number gain	not provided	GLikely pathogenic
Select item 1807957	GRCh37/hg19 5q35.3(chr5:176616151-177107778)x3	B4GALT7, DBN1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1807876	GRCh37/hg19 5q35.3(chr5:176718361-176957659)x3	DBN1, DDX41 +14 more	Copy number gain	not provided	GUncertain significance
Select item 1807722	GRCh37/hg19 5q35.2-35.3(chr5:176547912-177126647)x3	B4GALT7, DBN1 +16 more	Copy number gain	not provided	GLikely pathogenic
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1437053	NC_000005.9:g.(?_176047812)_(177422934_?)del	GRK6, HK3 +26 more	Deletion	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 1340213	GRCh37/hg19 5q35.2-35.3(chr5:176497464-177776599)x3	B4GALT7, COL23A1 +25 more	Copy number gain	not provided	GLikely pathogenic
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 979537	GRCh37/hg19 5q35.2-35.3(chr5:175394616-177436413)x3	ARL10, B4GALT7 +38 more	Copy number gain	not provided	GPathogenic
Select item 979536	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177114151)x3	ARL10, B4GALT7 +34 more	Copy number gain	not provided	GPathogenic
Select item 975831	GRCh37/hg19 5q35.2-35.3(chr5:175346695-177469711)x1	ARL10, B4GALT7 +38 more	Copy number loss	Sotos syndrome	GPathogenic
Select item 690278	Single allele	UNC5A, ZNF346 +28 more	Deletion	Marfanoid habitus and intellectual disability	GLikely pathogenic
Select item 687644	GRCh37/hg19 5q35.3(chr5:176774402-177064884)x4	B4GALT7, DBN1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 686512	GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3	ADAMTS2, B4GALT7 +59 more	Copy number gain	not provided	GPathogenic
Select item 685882	GRCh37/hg19 5q35.3(chr5:176643613-179085551)x3	COL23A1, ADAMTS2 +36 more	Copy number gain	not provided	GUncertain significance
Select item 685440	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3	ARL10, B4GALT7 +36 more	Copy number gain	not provided	GPathogenic
Select item 684934	GRCh37/hg19 5q35.3(chr5:176732536-177260046)x1	B4GALT7, DBN1 +15 more	Copy number loss	not provided	GUncertain significance
Select item 626286	Single allele	ADAMTS2, B4GALT7 +80 more	Duplication	not provided	GLikely pathogenic
Select item 625704	GRCh37/hg19 5q35.2-35.3(chr5:176305543-177422876)	B4GALT7, DBN1 +23 more	Copy number gain	not provided	GPathogenic
Select item 625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	ADAMTS2, ARL10 +90 more	Copy number gain	not provided	GPathogenic
Select item 563130	GRCh37/hg19 5q35.3(chr5:176918345-179061393)x1	RUFY1, TMED9 +23 more	Copy number loss	not provided	GPathogenic
Select item 563129	GRCh37/hg19 5q35.2-35.3(chr5:176044976-177023859)x1	DBN1, DDX41 +23 more	Copy number loss	not provided	GPathogenic
Select item 563126	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177436413)x1	ARL10, B4GALT7 +36 more	Copy number loss	not provided	GPathogenic
Select item 563125	GRCh37/hg19 5q35.2-35.3(chr5:175438045-177481250)x1	ARL10, B4GALT7 +37 more	Copy number loss	not provided	GPathogenic
Select item 560112	Single allele	B4GALT7, DBN1 +13 more	Duplication	not provided	GUncertain significance
Select item 443960	GRCh37/hg19 5q35.2-35.3(chr5:175570678-177437340)x1	ARL10, B4GALT7 +36 more	Copy number loss	See cases	GPathogenic
Select item 443249	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3	ARL10, B4GALT7 +36 more	Copy number gain	See cases	GPathogenic
Select item 443005	GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1	ADAMTS2, ARL10 +86 more	Copy number loss	See cases	GPathogenic
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic

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