ClinVar for MedGen (Select 414083) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3730304	NM_004304.5(ALK):c.634C>T (p.Gln212Ter)	ALK (Q212*)	Single nucleotide variant (nonsense)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3730296	NM_004304.5(ALK):c.3029A>G (p.His1010Arg)	ALK (H1010R)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3730132	NM_004304.5(ALK):c.1283-19G>A	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3730129	NM_004304.5(ALK):c.1547-4C>G	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3729948	NM_004304.5(ALK):c.2944A>G (p.Lys982Glu)	ALK (K982E)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3729596	NM_004304.5(ALK):c.3309C>G (p.Ser1103=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3729423	NM_004304.5(ALK):c.4854T>G (p.Pro1618=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3729270	NM_004304.5(ALK):c.2633-2A>C	ALK	Single nucleotide variant (splice acceptor variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3729038	NM_004304.5(ALK):c.1397A>G (p.Asp466Gly)	ALK (D466G)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3728997	NM_004304.5(ALK):c.4735T>G (p.Cys1579Gly)	ALK (C1579G +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3728459	NM_004304.5(ALK):c.3067+19G>C	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3728350	NM_004304.5(ALK):c.1385C>T (p.Ala462Val)	ALK (A462V)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3728051	NM_004304.5(ALK):c.235G>A (p.Glu79Lys)	ALK (E79K)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3727944	NM_004304.5(ALK):c.252G>C (p.Arg84Ser)	ALK (R84S)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3727725	NM_004304.5(ALK):c.1491C>T (p.His497=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3727420	NM_004304.5(ALK):c.1017G>C (p.Arg339Ser)	ALK (R339S)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3727056	NM_004304.5(ALK):c.2355+19G>T	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3727053	NM_004304.5(ALK):c.4087A>T (p.Thr1363Ser)	ALK (T1363S +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3727050	NM_004304.5(ALK):c.3313_3316dup (p.Ser1106fs)	ALK (S38fs +1 more)	Duplication (frameshift variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3726456	NM_004304.5(ALK):c.1824G>C (p.Trp608Cys)	ALK (W608C)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3726344	NM_004304.5(ALK):c.4770C>G (p.Gly1590=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3726339	NM_004304.5(ALK):c.1283-9G>A	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3726218	NM_004304.5(ALK):c.303G>A (p.Leu101=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3726108	NM_004304.5(ALK):c.1559T>C (p.Leu520Ser)	ALK (L520S)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3726048	NM_004304.5(ALK):c.2915-5A>G	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3725941	NM_004304.5(ALK):c.952+3A>T	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3725890	NM_004304.5(ALK):c.555G>A (p.Leu185=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3725343	NM_004304.5(ALK):c.952+15G>T	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3725080	NM_004304.5(ALK):c.1154+18T>A	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3724704	NM_004304.5(ALK):c.2014A>G (p.Arg672Gly)	ALK (R672G)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3724583	NM_004304.5(ALK):c.2488-11C>T	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3724173	NM_004304.5(ALK):c.1201C>A (p.Arg401=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3724170	NM_004304.5(ALK):c.4629T>G (p.Pro1543=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3724168	NM_004304.5(ALK):c.587C>A (p.Ser196Ter)	ALK (S196*)	Single nucleotide variant (nonsense)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3724164	NM_004304.5(ALK):c.2356-2A>T	ALK	Single nucleotide variant (splice acceptor variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3723936	NM_004304.5(ALK):c.1679_1680insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATTCGTGGAGTCTT (p.Leu560delinsPhePhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer)	ALK	Insertion (nonsense)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3723850	NM_004304.5(ALK):c.289C>A (p.Pro97Thr)	ALK (P97T)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3723595	NM_004304.5(ALK):c.648C>A (p.Leu216=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3723585	NM_004304.5(ALK):c.3886A>G (p.Met1296Val)	ALK (M228V +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3723504	NM_004304.5(ALK):c.3360G>C (p.Arg1120=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3723465	NM_004304.5(ALK):c.1814A>T (p.Asp605Val)	ALK (D605V)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3723354	NM_004304.5(ALK):c.1583C>T (p.Ala528Val)	ALK (A528V)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3723297	NM_004304.5(ALK):c.2795G>A (p.Gly932Glu)	ALK (G932E)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3723295	NM_004304.5(ALK):c.3290G>A (p.Cys1097Tyr)	ALK (C1097Y +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3722823	NM_004304.5(ALK):c.3693G>C (p.Arg1231=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3722738	NM_004304.5(ALK):c.1505A>G (p.Gln502Arg)	ALK (Q502R)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3722600	NM_004304.5(ALK):c.2204+16G>T	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3722594	NM_004304.5(ALK):c.2041+5G>T	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3722593	NM_004304.5(ALK):c.4151A>C (p.Glu1384Ala)	ALK (E1384A +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3722503	NM_004304.5(ALK):c.3140C>T (p.Ala1047Val)	ALK (A1047V)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3722499	NM_004304.5(ALK):c.3832dup (p.Tyr1278fs)	ALK (Y210fs +1 more)	Duplication (frameshift variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3722364	NM_004304.5(ALK):c.3456G>A (p.Leu1152=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3722337	NM_004304.5(ALK):c.979G>T (p.Ala327Ser)	ALK (A327S)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3722301	NM_004304.5(ALK):c.2925C>G (p.Gly975=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3722168	NM_004304.5(ALK):c.4164+6A>G	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3722166	NM_004304.5(ALK):c.1988A>C (p.Glu663Ala)	ALK (E663A)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3721663	NM_004304.5(ALK):c.3775T>C (p.Cys1259Arg)	ALK (C1259R +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3721492	NM_004304.5(ALK):c.1283-10T>C	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3721070	NM_004304.5(ALK):c.1849C>T (p.Gln617Ter)	ALK (Q617*)	Single nucleotide variant (nonsense)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3720391	NM_004304.5(ALK):c.2592CTC[1] (p.Ser866del)	ALK (S866del)	Microsatellite	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3719799	NM_004304.5(ALK):c.381G>C (p.Leu127=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3719798	NM_004304.5(ALK):c.2681A>T (p.Lys894Ile)	ALK (K894I)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3718886	NM_004304.5(ALK):c.1738A>G (p.Met580Val)	ALK (M580V)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3718884	NM_004304.5(ALK):c.3220C>T (p.Gln1074Ter)	ALK (Q6* +1 more)	Single nucleotide variant (nonsense)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3717659	NM_004304.5(ALK):c.3568del (p.Leu1190fs)	ALK (L1190fs +1 more)	Deletion (frameshift variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3717025	NM_004304.5(ALK):c.1312C>T (p.Gln438Ter)	ALK (Q438*)	Single nucleotide variant (nonsense)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3715547	NM_004304.5(ALK):c.3413T>G (p.Met1138Arg)	ALK (M70R +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3715000	NM_004304.5(ALK):c.4722A>C (p.Leu1574=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3714133	NM_004304.5(ALK):c.2005A>T (p.Asn669Tyr)	ALK (N669Y)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3713986	NM_004304.5(ALK):c.3896A>G (p.Glu1299Gly)	ALK (E231G +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3713907	NM_004304.5(ALK):c.2042-19C>G	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3713646	NM_004304.5(ALK):c.205C>A (p.Arg69=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3712747	NM_004304.5(ALK):c.1467G>C (p.Trp489Cys)	ALK (W489C)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3711937	NM_004304.5(ALK):c.1090C>T (p.Gln364Ter)	ALK (Q364*)	Single nucleotide variant (nonsense)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3711841	NM_004304.5(ALK):c.3836+1G>A	ALK	Single nucleotide variant (splice donor variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3710987	NM_004304.5(ALK):c.758T>G (p.Phe253Cys)	ALK (F253C)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3710499	NM_004304.5(ALK):c.1283-7T>C	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3710152	NM_004304.5(ALK):c.2915-6C>A	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3709551	NM_004304.5(ALK):c.411T>G (p.Arg137=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3708664	NM_004304.5(ALK):c.1648-18C>T	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3708618	NM_004304.5(ALK):c.95C>G (p.Pro32Arg)	ALK (P32R)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3708273	NM_004304.5(ALK):c.4411G>T (p.Val1471Leu)	ALK (V403L +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3707599	NM_004304.5(ALK):c.1283-8C>T	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3707198	NM_004304.5(ALK):c.3132C>A (p.Leu1044=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3707061	NM_004304.5(ALK):c.2449G>A (p.Gly817Ser)	ALK (G817S)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3706859	NM_004304.5(ALK):c.1283-19G>C	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3706690	NM_004304.5(ALK):c.3452C>A (p.Thr1151Lys)	ALK (T83K +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3706594	NM_004304.5(ALK):c.3360-5C>A	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3706415	NM_004304.5(ALK):c.2252T>A (p.Met751Lys)	ALK (M751K)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3706295	NM_004304.5(ALK):c.3913A>C (p.Ile1305Leu)	ALK (I237L +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3706112	NM_004304.5(ALK):c.1547-5C>G	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3705282	NM_004304.5(ALK):c.201C>G (p.Tyr67Ter)	ALK (Y67*)	Single nucleotide variant (nonsense)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3704835	NM_004304.5(ALK):c.2632+17G>C	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3704639	NM_004304.5(ALK):c.1186C>A (p.Pro396Thr)	ALK (P396T)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3703516	NM_004304.5(ALK):c.3067+14G>T	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3703331	NM_004304.5(ALK):c.2345C>T (p.Ala782Val)	ALK (A782V)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3702947	NM_004304.5(ALK):c.565C>T (p.Leu189=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3702498	NM_004304.5(ALK):c.437G>A (p.Gly146Asp)	ALK (G146D)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3702497	NM_004304.5(ALK):c.3360-8T>C	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 3701373	NM_004304.5(ALK):c.792G>A (p.Leu264=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3	GLikely benign

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