ClinVar for Gene (Select 26580) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 578

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383977	NM_001122955.4(BSCL2):c.825dup (p.Ala276fs)	BSCL2, HNRNPUL2-BSCL2 (A212fs +1 more)	Duplication (non-coding transcript variant +1 more)	Lipodystrophy	GLikely pathogenic
Select item 3383368	NM_001122955.4(BSCL2):c.630+3_630+6del	BSCL2, HNRNPUL2-BSCL2	Deletion (splice donor variant)	Congenital generalized lipodystrophy type 2	GUncertain significance
Select item 3377187	NM_001122955.4(BSCL2):c.1153+1G>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (splice donor variant)	Congenital generalized lipodystrophy type 2	GUncertain significance
Select item 3373097	NM_001122955.4(BSCL2):c.653A>T (p.Asp218Val)	BSCL2, HNRNPUL2-BSCL2 (D154V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3369931	NM_001122955.4(BSCL2):c.187C>T (p.Pro63Ser)	BSCL2, HNRNPUL2-BSCL2 (P63S)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3368223	NM_001122955.4(BSCL2):c.1379C>T (p.Ser460Phe)	BSCL2, HNRNPUL2-BSCL2 (S396F +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3366150	NM_001122955.4(BSCL2):c.769G>A (p.Val257Met)	BSCL2, HNRNPUL2-BSCL2 (V193M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3360671	NM_001122955.4(BSCL2):c.86A>G (p.Glu29Gly)	BSCL2 (E29G)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3359775	NM_001122955.4(BSCL2):c.478C>G (p.Arg160Gly)	BSCL2 (R160G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3359580	NM_001122955.4(BSCL2):c.542C>A (p.Ser181Tyr)	BSCL2 (S117Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3343293	NM_001122955.4(BSCL2):c.58G>C (p.Asp20His)	BSCL2, GNG3 +1 more (D20H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3244694	NC_000011.9:g.(?_62457839)_(62460289_?)dup	BSCL2	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3244693	NC_000011.9:g.(?_62439218)_(62470041_?)dup	BSCL2, LBHD1 +3 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3244692	NC_000011.9:g.(?_62457839)_(62472984_?)del	BSCL2	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 3234754	NM_001122955.4(BSCL2):c.195G>A (p.Met65Ile)	BSCL2, HNRNPUL2-BSCL2 (M1I +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3234753	NM_001122955.4(BSCL2):c.782G>A (p.Gly261Glu)	BSCL2, HNRNPUL2-BSCL2 (G197E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3067661	NM_001122955.4(BSCL2):c.1073G>A (p.Gly358Glu)	BSCL2, HNRNPUL2-BSCL2 (G247S +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 3013977	NM_001122955.4(BSCL2):c.1005+14A>G	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2993874	NM_001122955.4(BSCL2):c.1291G>C (p.Ala431Pro)	BSCL2, HNRNPUL2-BSCL2 (A367P +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2980676	NM_001122955.4(BSCL2):c.555A>T (p.Gln185His)	BSCL2, HNRNPUL2-BSCL2 (Q121H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2962222	NM_001122955.4(BSCL2):c.816G>A (p.Gln272=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2959524	NM_001122955.4(BSCL2):c.396C>G (p.Phe132Leu)	BSCL2, HNRNPUL2-BSCL2 (F68L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2957028	NM_001122955.4(BSCL2):c.836G>A (p.Arg279His)	BSCL2, HNRNPUL2-BSCL2 (R215H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2919685	NM_001122955.4(BSCL2):c.440C>T (p.Ser147Phe)	BSCL2, HNRNPUL2-BSCL2 (S147F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2918258	NM_001122955.4(BSCL2):c.405-16del	BSCL2, HNRNPUL2-BSCL2	Deletion (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2913567	NM_001122955.4(BSCL2):c.1230T>C (p.Ser410=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2898734	NM_001122955.4(BSCL2):c.357C>T (p.Ser119=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2894477	NM_001122955.4(BSCL2):c.1024_1025del (p.Asp342fs)	BSCL2, HNRNPUL2-BSCL2 (E230fs +2 more)	Microsatellite (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 2891313	NM_001122955.4(BSCL2):c.549G>A (p.Val183=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2889786	NM_001122955.4(BSCL2):c.684C>T (p.Phe228=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2889231	NM_001122955.4(BSCL2):c.1073-16C>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2883278	NM_001122955.4(BSCL2):c.765+7G>C	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2866692	NM_001122955.4(BSCL2):c.1295C>T (p.Pro432Leu)	BSCL2, HNRNPUL2-BSCL2 (P432L +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2849593	NM_001122955.4(BSCL2):c.1371C>A (p.Pro457=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2847431	NM_001122955.4(BSCL2):c.487-4G>A	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2844197	NM_001122955.4(BSCL2):c.1005+16G>A	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2821857	NM_001122955.4(BSCL2):c.1006-2A>C	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 2815384	NM_001122955.4(BSCL2):c.1005+11_1005+16del	HNRNPUL2-BSCL2, BSCL2	Deletion (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2814818	NM_001122955.4(BSCL2):c.864-16C>G	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2813729	NM_001122955.4(BSCL2):c.1150A>G (p.Thr384Ala)	BSCL2, HNRNPUL2-BSCL2 (T384A +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2805883	NM_001122955.4(BSCL2):c.445C>A (p.Pro149Thr)	BSCL2, HNRNPUL2-BSCL2 (P85T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2780763	NM_001122955.4(BSCL2):c.1288C>A (p.Pro430Thr)	BSCL2, HNRNPUL2-BSCL2 (P430T +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2775664	NM_001122955.4(BSCL2):c.1233T>C (p.Asp411=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2770619	NM_001122955.4(BSCL2):c.1153G>C (p.Glu385Gln)	BSCL2, HNRNPUL2-BSCL2 (E387Q +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2764464	NM_001122955.4(BSCL2):c.928C>T (p.Leu310Phe)	BSCL2, HNRNPUL2-BSCL2 (L246F +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2762573	NM_001122955.4(BSCL2):c.675A>G (p.Thr225=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2754329	NM_001122955.4(BSCL2):c.1090_1091inv (p.Glu364Ser)	BSCL2, HNRNPUL2-BSCL2 (E300S +2 more)	Inversion (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2747799	NM_001122955.4(BSCL2):c.1239A>G (p.Ser413=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2743961	NM_001122955.4(BSCL2):c.1235-2_1235-1insCCAA	BSCL2, HNRNPUL2-BSCL2	Insertion (splice acceptor variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2743145	NM_001122955.4(BSCL2):c.567_568insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTTGGGCATG (p.Phe190delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer)	BSCL2, HNRNPUL2-BSCL2	Insertion (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 2738621	NM_001122955.4(BSCL2):c.830A>C (p.Tyr277Ser)	BSCL2, HNRNPUL2-BSCL2 (Y277S +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2738487	NM_001122955.4(BSCL2):c.747A>G (p.Ala249=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2730344	NM_001122955.4(BSCL2):c.925T>A (p.Phe309Ile)	BSCL2, HNRNPUL2-BSCL2 (F245I +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2730293	NM_001122955.4(BSCL2):c.921C>A (p.Phe307Leu)	BSCL2, HNRNPUL2-BSCL2 (F307L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2726861	NM_001122955.4(BSCL2):c.509A>T (p.Tyr170Phe)	HNRNPUL2-BSCL2, BSCL2 (Y106F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2725721	NM_001122955.4(BSCL2):c.1063C>T (p.His355Tyr)	BSCL2, HNRNPUL2-BSCL2 (H291Y +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2725688	NM_001122955.4(BSCL2):c.193A>G (p.Met65Val)	BSCL2, HNRNPUL2-BSCL2 (M1V +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2723055	NM_001122955.4(BSCL2):c.376C>T (p.His126Tyr)	BSCL2, HNRNPUL2-BSCL2 (H62Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2715998	NM_001122955.4(BSCL2):c.404+17A>G	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2714523	NM_001122955.4(BSCL2):c.909T>G (p.Val303=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2706982	NM_001122955.4(BSCL2):c.711A>C (p.Ala237=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2706029	NM_001122955.4(BSCL2):c.630+15C>G	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2703669	NM_001122955.4(BSCL2):c.1110T>C (p.Asp370=)	BSCL2, HNRNPUL2-BSCL2 (M259T)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2698778	NM_001122955.4(BSCL2):c.748G>A (p.Asp250Asn)	BSCL2, HNRNPUL2-BSCL2 (D250N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2697418	NM_001122955.4(BSCL2):c.1005+19C>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2672469	NM_001122955.4(BSCL2):c.39G>A (p.Gly13=)	BSCL2, GNG3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2664673	NM_001122955.4(BSCL2):c.591C>A (p.Tyr197Ter)	BSCL2, HNRNPUL2-BSCL2 (Y133* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 2662203	NM_001122955.4(BSCL2):c.1234+4A>C	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2641895	NM_001122955.4(BSCL2):c.103G>T (p.Ala35Ser)	BSCL2, HNRNPUL2-BSCL2 (A35S)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2641894	NM_001122955.4(BSCL2):c.351C>T (p.Tyr117=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2641893	NM_001122955.4(BSCL2):c.744C>T (p.Tyr248=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2641892	NM_001122955.4(BSCL2):c.968G>A (p.Trp323Ter)	BSCL2, HNRNPUL2-BSCL2 (W259* +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2633479	NM_001122955.4(BSCL2):c.829T>C (p.Tyr277His)	BSCL2, HNRNPUL2-BSCL2 (Y213H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 2603659	NM_001122955.4(BSCL2):c.1270G>C (p.Glu424Gln)	BSCL2, HNRNPUL2-BSCL2 (E426Q +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2581975	NM_001122955.4(BSCL2):c.943C>T (p.Leu315Phe)	BSCL2, HNRNPUL2-BSCL2 (L251F +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2581250	NM_001122955.4(BSCL2):c.178C>T (p.Pro60Ser)	BSCL2, HNRNPUL2-BSCL2 (P60S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2571531	NM_001122955.4(BSCL2):c.876C>G (p.Tyr292Ter)	BSCL2, HNRNPUL2-BSCL2 (Y228* +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Berardinelli-Seip congenital lipodystrophy	GUncertain significance
Select item 2571530	NM_001122955.4(BSCL2):c.752A>G (p.Tyr251Cys)	BSCL2, HNRNPUL2-BSCL2 (Y187C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Berardinelli-Seip congenital lipodystrophy	GUncertain significance
Select item 2571529	NM_001122955.4(BSCL2):c.631-2A>C	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (splice acceptor variant)	Berardinelli-Seip congenital lipodystrophy	GUncertain significance
Select item 2571526	NM_001122955.4(BSCL2):c.529G>T (p.Glu177Ter)	BSCL2, HNRNPUL2-BSCL2 (E113* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Berardinelli-Seip congenital lipodystrophy	GUncertain significance
Select item 2571525	NM_001122955.4(BSCL2):c.464T>C (p.Leu155Pro)	BSCL2, HNRNPUL2-BSCL2 (L155P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Berardinelli-Seip congenital lipodystrophy	GUncertain significance
Select item 2571523	NM_001122955.4(BSCL2):c.358_376del (p.Tyr120fs)	BSCL2, HNRNPUL2-BSCL2 (Y120fs +1 more)	Deletion (non-coding transcript variant +1 more)	Berardinelli-Seip congenital lipodystrophy	GUncertain significance
Select item 2571522	NM_001122955.4(BSCL2):c.299G>A (p.Cys100Tyr)	BSCL2, HNRNPUL2-BSCL2 (C100Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Berardinelli-Seip congenital lipodystrophy	GUncertain significance
Select item 2510841	NM_001122955.4(BSCL2):c.764C>T (p.Ser255Leu)	BSCL2, HNRNPUL2-BSCL2 (S191L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2504149	NM_001122955.4(BSCL2):c.1116del (p.Glu373fs)	HNRNPUL2-BSCL2, BSCL2 (E309fs +3 more)	Deletion (non-coding transcript variant +1 more)	See cases	GUncertain significance
Select item 2500763	NM_001122955.4(BSCL2):c.446C>G (p.Pro149Arg)	BSCL2, HNRNPUL2-BSCL2 (P149R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 2439580	NM_001122955.4(BSCL2):c.430T>C (p.Ser144Pro)	BSCL2, HNRNPUL2-BSCL2 (S144P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2439579	NM_001122955.4(BSCL2):c.937A>G (p.Ile313Val)	HNRNPUL2-BSCL2, BSCL2 (I249V +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2439578	NM_001122955.4(BSCL2):c.1043T>A (p.Val348Asp)	BSCL2, HNRNPUL2-BSCL2 (S237T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2428717	NM_001122955.4(BSCL2):c.547G>A (p.Val183Met)	HNRNPUL2-BSCL2, BSCL2 (V119M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2427057	NC_000011.9:g.(?_62457839)_(62462203_?)del	BSCL2	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2410131	NM_012202.5(GNG3):c.145G>A (p.Ala49Thr)	BSCL2, GNG3 +2 more (A49T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2199747	NM_001122955.4(BSCL2):c.404+16T>C	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2199727	NM_001122955.4(BSCL2):c.511C>T (p.Arg171Cys)	BSCL2, HNRNPUL2-BSCL2 (R107C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2199618	NM_001122955.4(BSCL2):c.1089G>A (p.Glu363=)	BSCL2, HNRNPUL2-BSCL2 (R252K)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2198755	NM_001122955.4(BSCL2):c.1143C>T (p.Pro381=)	BSCL2, HNRNPUL2-BSCL2 (P270L)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign

<< First< Prev

Page of 6