23059[HGNC] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 149564	GRCh38/hg38 1q22-23.1(chr1:156256495-156681863)x1	BCAN, BCAN-AS1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 57814	GRCh38/hg38 1q22-23.1(chr1:156593261-156653428)x3	BCAN, BCAN-AS1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 3133232	NM_021948.5(BCAN):c.71T>C (p.Val24Ala)	BCAN, BCAN-AS1 +1 more (V24A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3260572	NM_021948.5(BCAN):c.97C>A (p.Arg33Ser)	BCAN, BCAN-AS1 +1 more (R33S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2377059	NM_021948.5(BCAN):c.256C>T (p.Arg86Trp)	BCAN, BCAN-AS1 +1 more (R86W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523907	NM_021948.5(BCAN):c.284G>A (p.Gly95Glu)	BCAN, BCAN-AS1 +1 more (G95E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2210466	NM_021948.5(BCAN):c.290G>A (p.Arg97His)	BCAN, BCAN-AS1 +1 more (R97H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133227	NM_021948.5(BCAN):c.304G>C (p.Glu102Gln)	BCAN, BCAN-AS1 +1 more (E102Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 402409	NM_021948.5(BCAN):c.313C>G (p.Arg105Gly)	BCAN, BCAN-AS1 +1 more (R105G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3133228	NM_021948.5(BCAN):c.385C>T (p.Pro129Ser)	BCAN, BCAN-AS1 +1 more (P129S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3260567	NM_021948.5(BCAN):c.390C>A (p.Asn130Lys)	BCAN-AS1, BCAN +1 more (N130K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2270507	NM_021948.5(BCAN):c.410G>T (p.Cys137Phe)	BCAN, BCAN-AS1 +1 more (C137F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133229	NM_021948.5(BCAN):c.424G>A (p.Gly142Ser)	BCAN, BCAN-AS1 +1 more (G142S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3133230	NM_021948.5(BCAN):c.497C>T (p.Ala166Val)	BCAN, BCAN-AS1 +1 more (A166V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375734	NM_021948.5(BCAN):c.500G>A (p.Arg167His)	BCAN, BCAN-AS1 +1 more (R167H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133231	NM_021948.5(BCAN):c.505G>A (p.Ala169Thr)	BCAN, BCAN-AS1 +1 more (A169T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567213	NM_021948.5(BCAN):c.725C>T (p.Pro242Leu)	BCAN, BCAN-AS1 +1 more (P242L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317662	NM_021948.5(BCAN):c.1070C>T (p.Ala357Val)	BCAN, BCAN-AS1 +1 more (A357V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133209	NM_021948.5(BCAN):c.1081G>A (p.Ala361Thr)	BCAN, BCAN-AS1 +1 more (A361T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260566	NM_021948.5(BCAN):c.1096T>G (p.Ser366Ala)	BCAN, BCAN-AS1 +1 more (S366A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133210	NM_021948.5(BCAN):c.1123G>A (p.Asp375Asn)	BCAN, BCAN-AS1 +1 more (D375N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612382	NM_021948.5(BCAN):c.1123G>C (p.Asp375His)	BCAN, BCAN-AS1 +1 more (D375H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329238	NM_021948.5(BCAN):c.1151C>G (p.Thr384Arg)	BCAN, BCAN-AS1 +1 more (T384R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384036	NM_021948.5(BCAN):c.1204C>T (p.Arg402Cys)	BCAN, BCAN-AS1 +1 more (R402C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511914	NM_021948.5(BCAN):c.1205G>A (p.Arg402His)	BCAN, BCAN-AS1 +1 more (R402H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133211	NM_021948.5(BCAN):c.1253G>A (p.Ser418Asn)	BCAN, BCAN-AS1 +1 more (S418N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133212	NM_021948.5(BCAN):c.1258A>G (p.Thr420Ala)	BCAN, BCAN-AS1 +1 more (T420A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639459	NM_021948.5(BCAN):c.1377T>C (p.Tyr459=)	BCAN, BCAN-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3260570	NM_021948.5(BCAN):c.1418A>T (p.Glu473Val)	BCAN, BCAN-AS1 +1 more (E473V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133213	NM_021948.5(BCAN):c.1453G>A (p.Glu485Lys)	BCAN, BCAN-AS1 +1 more (E485K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381232	NM_021948.5(BCAN):c.1456C>T (p.Leu486Phe)	BCAN, BCAN-AS1 +1 more (L486F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2615836	NM_021948.5(BCAN):c.1463G>C (p.Ser488Thr)	BCAN, BCAN-AS1 +1 more (S488T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384689	NM_021948.5(BCAN):c.1466C>T (p.Pro489Leu)	BCAN, BCAN-AS1 +1 more (P489L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3133214	NM_021948.5(BCAN):c.1490C>G (p.Thr497Ser)	BCAN, BCAN-AS1 +1 more (T497S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639460	NM_021948.5(BCAN):c.1545G>A (p.Leu515=)	BCAN, BCAN-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2529297	NM_021948.5(BCAN):c.1697G>A (p.Gly566Glu)	BCAN, BCAN-AS1 +1 more (G566E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241925	NM_021948.5(BCAN):c.1711G>A (p.Gly571Ser)	BCAN, BCAN-AS1 +1 more (G571S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484993	NM_021948.5(BCAN):c.1732C>T (p.Pro578Ser)	BCAN, BCAN-AS1 +1 more (P578S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260565	NM_021948.5(BCAN):c.1733C>G (p.Pro578Arg)	BCAN, BCAN-AS1 +1 more (P578R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383168	NM_021948.5(BCAN):c.1753A>G (p.Thr585Ala)	BCAN, BCAN-AS1 +1 more (T585A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356767	NM_021948.5(BCAN):c.1765G>A (p.Glu589Lys)	BCAN, BCAN-AS1 +1 more (E589K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518298	NM_021948.5(BCAN):c.1771G>A (p.Ala591Thr)	BCAN, BCAN-AS1 +1 more (A591T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261026	NM_021948.5(BCAN):c.1778C>T (p.Ser593Phe)	BCAN, BCAN-AS1 +1 more (S593F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777939	NM_021948.5(BCAN):c.1783C>A (p.Leu595Ile)	BCAN, BCAN-AS1 +1 more (L595I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2556461	NM_021948.5(BCAN):c.1795C>T (p.Arg599Trp)	BCAN, BCAN-AS1 +1 more (R599W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271571	NM_021948.5(BCAN):c.1796G>A (p.Arg599Gln)	BCAN, BCAN-AS1 +1 more (R599Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260571	NM_021948.5(BCAN):c.1873G>T (p.Val625Leu)	BCAN, BCAN-AS1 +1 more (V625L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260568	NM_021948.5(BCAN):c.1885C>A (p.Pro629Thr)	BCAN, BCAN-AS1 +1 more (P629T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133216	NM_021948.5(BCAN):c.1927G>A (p.Val643Met)	BCAN, BCAN-AS1 +1 more (V643M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733328	NM_021948.5(BCAN):c.1953C>T (p.Val651=)	BCAN, BCAN-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3133217	NM_021948.5(BCAN):c.2005C>T (p.Arg669Cys)	BCAN, BCAN-AS1 +1 more (R669C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133218	NM_021948.5(BCAN):c.2006G>A (p.Arg669His)	BCAN, BCAN-AS1 +1 more (R669H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133219	NM_021948.5(BCAN):c.2035G>C (p.Asp679His)	BCAN, BCAN-AS1 +1 more (D679H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787577	NM_021948.5(BCAN):c.2117G>T (p.Arg706Leu)	BCAN, BCAN-AS1 +1 more (R706L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2240071	NM_021948.5(BCAN):c.2179A>C (p.Ser727Arg)	BCAN, BCAN-AS1 +1 more (S727R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274874	NM_021948.5(BCAN):c.2245G>A (p.Asp749Asn)	BCAN, BCAN-AS1 +1 more (D749N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391685	NM_021948.5(BCAN):c.2248A>G (p.Arg750Gly)	BCAN, BCAN-AS1 +1 more (R750G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355986	NM_021948.5(BCAN):c.2360T>C (p.Met787Thr)	BCAN, BCAN-AS1 +1 more (M787T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260569	NM_021948.5(BCAN):c.2371G>A (p.Asp791Asn)	BCAN-AS1, BCAN +1 more (D791N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133221	NM_021948.5(BCAN):c.2450C>T (p.Pro817Leu)	BCAN, BCAN-AS1 +1 more (P817L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457830	NM_021948.5(BCAN):c.2456C>T (p.Pro819Leu)	BCAN, BCAN-AS1 +1 more (P819L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133222	NM_021948.5(BCAN):c.2482G>A (p.Gly828Ser)	BCAN, BCAN-AS1 +1 more (G828S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615667	NM_021948.5(BCAN):c.2489C>G (p.Pro830Arg)	BCAN, BCAN-AS1 +1 more (P830R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235821	NM_021948.5(BCAN):c.2498G>A (p.Arg833His)	BCAN, BCAN-AS1 +1 more (R833H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133223	NM_021948.5(BCAN):c.2515G>C (p.Val839Leu)	BCAN, BCAN-AS1 +1 more (V839L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 623463	NM_021948.5(BCAN):c.2518C>T (p.Leu840Phe)	BCAN, BCAN-AS1 +1 more (L840F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293765	NM_021948.5(BCAN):c.2578G>A (p.Glu860Lys)	BCAN, BCAN-AS1 +1 more (E860K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602973	NM_021948.5(BCAN):c.2594A>G (p.Glu865Gly)	BCAN, BCAN-AS1 +1 more (E865G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133225	NM_021948.5(BCAN):c.2627C>G (p.Pro876Arg)	BCAN, BCAN-AS1 +1 more (P876R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133226	NM_021948.5(BCAN):c.2643C>A (p.His881Gln)	BCAN, BCAN-AS1 +1 more (H881Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359751	NM_021948.5(BCAN):c.2687G>A (p.Arg896His)	BCAN, BCAN-AS1 +1 more (R896H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 721309	NM_021948.5(BCAN):c.2695G>A (p.Ala899Thr)	BCAN, BCAN-AS1 +1 more (A899T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1460461	NC_000001.10:g.(?_155581953)_(156851434_?)del	ARHGEF2, BCAN +45 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	ADAM15, ADAR +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	SELENBP1, SEMA4A +228 more	Duplication	Kostmann syndrome +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 688120	GRCh37/hg19 1q22-23.1(chr1:155770505-156652136)x3	ARHGEF2, BCAN +33 more	Copy number gain	not provided	GUncertain significance
Select item 617477	LMNA-NTRK1 fusion	NES, NTRK1 +31 more	Fusion	Congenital fibrosarcoma	GPathogenic
Select item 565184	GRCh37/hg19 1q22-23.1(chr1:155999570-156844432)x3	BCAN, BGLAP +35 more	Copy number gain	not provided	GUncertain significance
Select item 565183	GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	ARHGEF11, ARHGEF2 +57 more	Copy number loss	not provided	GPathogenic
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 91