26580[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149385	GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3	AHNAK, ASRGL1 +110 more	Copy number gain	See cases	GPathogenic
Select item 59754	GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3	AHNAK, B3GAT3 +105 more	Copy number gain	See cases	GPathogenic
Select item 59755	GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3	AHNAK, B3GAT3 +95 more	Copy number gain	See cases	GPathogenic
Select item 145432	GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3	B3GAT3, BSCL2 +70 more	Copy number gain	See cases	GUncertain significance
Select item 877793	NM_001122955.4(BSCL2):c.*58G>A	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronopathy, distal hereditary motor, type 5A +1 more	GUncertain significance
Select item 305172	NM_001122955.4(BSCL2):c.*49T>G	HNRNPUL2-BSCL2, BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital generalized lipodystrophy type 2 +1 more	GUncertain significance
Select item 543296	NC_000011.9:g.(?_62457819)_(62462203_?)dup	BSCL2, HNRNPUL2-BSCL2	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 947075	NM_001122955.4(BSCL2):c.1361_1386del (p.Arg454fs)	BSCL2, HNRNPUL2-BSCL2 (R390fs +2 more)	Deletion (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1320708	NM_001122955.4(BSCL2):c.1385C>A (p.Ser462Tyr)	BSCL2, HNRNPUL2-BSCL2 (S398Y +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Neuronopathy, distal hereditary motor, type 5C +4 more	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 1700319	NM_001122955.4(BSCL2):c.1376G>C (p.Cys459Ser)	BSCL2, HNRNPUL2-BSCL2 (C395S +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GUncertain significance
Select item 835390	NM_001122955.4(BSCL2):c.1376G>A (p.Cys459Tyr)	BSCL2, HNRNPUL2-BSCL2 (C395Y +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 759768	NM_001122955.4(BSCL2):c.1374C>T (p.Thr458=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 938139	NM_001122955.4(BSCL2):c.1373C>T (p.Thr458Ile)	BSCL2, HNRNPUL2-BSCL2 (T394I +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 806685	NM_001122955.4(BSCL2):c.1369C>T (p.Pro457Ser)	BSCL2, HNRNPUL2-BSCL2 (P457S +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1621226	NM_001122955.4(BSCL2):c.1368C>T (p.Arg456=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 193938	NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His)	BSCL2, HNRNPUL2-BSCL2 (R456H +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 1442800	NM_001122955.4(BSCL2):c.1361G>A (p.Arg454Gln)	BSCL2, HNRNPUL2-BSCL2 (R456Q +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 388768	NM_001122955.4(BSCL2):c.1361G>T (p.Arg454Leu)	BSCL2, HNRNPUL2-BSCL2 (R390L +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1032980	NM_001122955.4(BSCL2):c.1360C>T (p.Arg454Ter)	BSCL2, HNRNPUL2-BSCL2 (R454* +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Severe neurodegenerative syndrome with lipodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1582320	NM_001122955.4(BSCL2):c.1359C>G (p.Leu453=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 411580	NM_001122955.4(BSCL2):c.1354G>T (p.Ala452Ser)	BSCL2, HNRNPUL2-BSCL2 (A452S +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 999392	NM_001122955.4(BSCL2):c.1352G>C (p.Gly451Ala)	BSCL2, HNRNPUL2-BSCL2 (G387A +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2025468	NM_001122955.4(BSCL2):c.1341A>G (p.Glu447=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1479659	NM_001122955.4(BSCL2):c.1330G>A (p.Gly444Ser)	BSCL2, HNRNPUL2-BSCL2 (G446S +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 234682	NM_001122955.4(BSCL2):c.1325C>T (p.Thr442Ile)	BSCL2, HNRNPUL2-BSCL2 (T378I +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 795252	NM_001122955.4(BSCL2):c.1320A>G (p.Leu440=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 369947	NM_001122955.4(BSCL2):c.1317C>A (p.Val439=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1798464	NM_001122955.4(BSCL2):c.1315G>A (p.Val439Ile)	BSCL2, HNRNPUL2-BSCL2 (V375I +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1986697	NM_001122955.4(BSCL2):c.1314T>C (p.Pro438=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 937593	NM_001122955.4(BSCL2):c.1313C>T (p.Pro438Leu)	BSCL2, HNRNPUL2-BSCL2 (P438L +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1117396	NM_001122955.4(BSCL2):c.1311C>T (p.Ala437=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 646533	NM_001122955.4(BSCL2):c.1299TTCTGC[3] (p.434SA[3])	BSCL2, HNRNPUL2-BSCL2	Microsatellite (non-coding transcript variant +2 more)	not provided +5 more	GUncertain significance
Select item 1696444	NM_001122955.4(BSCL2):c.1310C>T (p.Ala437Val)	BSCL2, HNRNPUL2-BSCL2 (A373V +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary spastic paraplegia 17 +3 more	GUncertain significance
Select item 393431	NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1])	BSCL2, HNRNPUL2-BSCL2	Microsatellite (non-coding transcript variant +2 more)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 234752	NM_001122955.4(BSCL2):c.1309G>C (p.Ala437Pro)	BSCL2, HNRNPUL2-BSCL2 (A437P +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1413615	NM_001122955.4(BSCL2):c.1300T>C (p.Ser434Pro)	BSCL2, HNRNPUL2-BSCL2 (S434P +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 951620	NM_001122955.4(BSCL2):c.1300T>G (p.Ser434Ala)	BSCL2, HNRNPUL2-BSCL2 (S434A +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2 +5 more	GUncertain significance
Select item 943575	NM_001122955.4(BSCL2):c.1282CCTGCT[4] (p.428PA[4])	BSCL2, HNRNPUL2-BSCL2	Microsatellite (inframe_insertion +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 566241	NM_001122955.4(BSCL2):c.1298C>T (p.Ala433Val)	BSCL2, HNRNPUL2-BSCL2 (A369V +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary spastic paraplegia +5 more	GUncertain significance
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 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 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 241723	NM_001122955.4(BSCL2):c.1288C>T (p.Pro430Ser)	BSCL2, HNRNPUL2-BSCL2 (P366S +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1435919	NM_001122955.4(BSCL2):c.1281_1286dup (p.428PA[4])	BSCL2, HNRNPUL2-BSCL2	Duplication (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 387999	NM_001122955.4(BSCL2):c.1282C>T (p.Pro428Ser)	BSCL2, HNRNPUL2-BSCL2 (P364S +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary spastic paraplegia 17 +7 more	GUncertain significance
Select item 128532	NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)	BSCL2, HNRNPUL2-BSCL2 (L427P +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Neuronopathy, distal hereditary motor, type 5A +10 more	GConflicting classifications of pathogenicity
Select item 2075445	NM_001122955.4(BSCL2):c.1279C>T (p.Leu427=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1473853	NM_001122955.4(BSCL2):c.1277A>G (p.Asn426Ser)	BSCL2, HNRNPUL2-BSCL2 (N426S +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 543171	NM_001122955.4(BSCL2):c.1276A>G (p.Asn426Asp)	BSCL2, HNRNPUL2-BSCL2 (N362D +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	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 1594642	NM_001122955.4(BSCL2):c.1269G>A (p.Thr423=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital generalized lipodystrophy type 2 +4 more	GLikely benign
Select item 1051573	NM_001122955.4(BSCL2):c.1268C>T (p.Thr423Met)	BSCL2, HNRNPUL2-BSCL2 (T359M +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1316091	NM_001122955.4(BSCL2):c.1264C>G (p.Leu422Val)	BSCL2, HNRNPUL2-BSCL2 (L358V +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary spastic paraplegia 17 +4 more	GUncertain significance
Select item 543282	NM_001122955.4(BSCL2):c.1254T>C (p.Asp418=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 1080520	NM_001122955.4(BSCL2):c.1251A>G (p.Glu417=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 660054	NM_001122955.4(BSCL2):c.1244C>T (p.Ser415Phe)	BSCL2, HNRNPUL2-BSCL2 (S351F +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Severe neurodegenerative syndrome with lipodystrophy +4 more	GUncertain significance
Select item 1648717	NM_001122955.4(BSCL2):c.1242C>G (p.Gly414=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
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 623295	NM_001122955.4(BSCL2):c.1235-2A>C	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (splice acceptor variant)	Congenital generalized lipodystrophy type 2	GLikely pathogenic
Select item 1583213	NM_001122955.4(BSCL2):c.1235-4C>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1118997	NM_001122955.4(BSCL2):c.1235-6G>A	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 17 +4 more	GLikely benign
Select item 1589960	NM_001122955.4(BSCL2):c.1235-17T>C	HNRNPUL2-BSCL2, BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1246946	NM_001122955.4(BSCL2):c.1234+20G>A	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Severe neurodegenerative syndrome with lipodystrophy +5 more	GBenign/Likely benign
Select item 1909933	NM_001122955.4(BSCL2):c.1234+19C>A	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 509502	NM_001122955.4(BSCL2):c.1234+19C>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 305173	NM_001122955.4(BSCL2):c.1234+14T>G	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 1627323	NM_001122955.4(BSCL2):c.1234+11T>A	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 509292	NM_001122955.4(BSCL2):c.1234+7G>A	HNRNPUL2-BSCL2, BSCL2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 663994	NM_001122955.4(BSCL2):c.1234+6G>A	HNRNPUL2-BSCL2, BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
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 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 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 2080463	NM_001122955.4(BSCL2):c.1220C>T (p.Pro407Leu)	BSCL2, HNRNPUL2-BSCL2 (P407L +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 799731	NM_001122955.4(BSCL2):c.1212G>A (p.Glu404=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 696445	NM_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del)	BSCL2, HNRNPUL2-BSCL2 (E340del +2 more)	Microsatellite (inframe_deletion +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 567989	NM_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu)	BSCL2, HNRNPUL2-BSCL2 (G337E +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2 +6 more	GUncertain significance
Select item 245798	NM_001122955.4(BSCL2):c.1201G>A (p.Gly401Arg)	BSCL2, HNRNPUL2-BSCL2 (G337R +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital generalized lipodystrophy type 2 +4 more	GUncertain significance
Select item 879418	NM_001122955.4(BSCL2):c.1200C>T (p.Ser400=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital generalized lipodystrophy type 2 +2 more	GConflicting classifications of pathogenicity
Select item 522044	NM_001122955.4(BSCL2):c.1193C>T (p.Pro398Leu)	BSCL2, HNRNPUL2-BSCL2 (P334L +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 450639	NM_001122955.4(BSCL2):c.1193C>G (p.Pro398Arg)	BSCL2, HNRNPUL2-BSCL2 (P334R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1329585	NM_001122955.4(BSCL2):c.1179A>T (p.Lys393Asn)	BSCL2, HNRNPUL2-BSCL2 (K329N +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1385913	NM_001122955.4(BSCL2):c.1168GAG[2] (p.Glu392del)	BSCL2, HNRNPUL2-BSCL2 (E394del +3 more)	Microsatellite (non-coding transcript variant +1 more)	Neuronopathy, distal hereditary motor, type 5C +1 more	GUncertain significance
Select item 1489147	NM_001122955.4(BSCL2):c.1171G>A (p.Glu391Lys)	BSCL2, HNRNPUL2-BSCL2 (E391K +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2136318	NM_001122955.4(BSCL2):c.1168G>C (p.Glu390Gln)	BSCL2, HNRNPUL2-BSCL2 (E326Q +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 245942	NM_001122955.4(BSCL2):c.1168G>A (p.Glu390Lys)	BSCL2, HNRNPUL2-BSCL2 (E326K +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +7 more	GUncertain significance
Select item 155731	NM_001122955.4(BSCL2):c.1167C>T (p.Ser389=)	BSCL2, HNRNPUL2-BSCL2 (P278L)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
Select item 665085	NM_001122955.4(BSCL2):c.1160A>G (p.Gln387Arg)	BSCL2, HNRNPUL2-BSCL2 (Q387R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Severe neurodegenerative syndrome with lipodystrophy +4 more	GUncertain significance
Select item 1359323	NM_001122955.4(BSCL2):c.1159C>T (p.Gln387Ter)	BSCL2, HNRNPUL2-BSCL2 (Q323* +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 959116	NM_001122955.4(BSCL2):c.1154-1del	BSCL2, HNRNPUL2-BSCL2	Deletion (splice acceptor variant)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 2004645	NM_001122955.4(BSCL2):c.1154-20C>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1272580	NM_001122955.4(BSCL2):c.1153+26C>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1610417	NM_001122955.4(BSCL2):c.1153+16C>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2185763	NM_001122955.4(BSCL2):c.1153+12C>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 719157	NM_001122955.4(BSCL2):c.1153+8G>A	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1151038	NM_001122955.4(BSCL2):c.1153+7C>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
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 2024913	NM_001122955.4(BSCL2):c.1152A>G (p.Thr384=)	BSCL2, HNRNPUL2-BSCL2 (Q273R)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance

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