"Illumina Laboratory Services, Illumina"[submitter] AND "HNRNPUL2-BSCL - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	Congenital generalized lipodystrophy type 2 +10 more	GConflicting classifications of pathogenicity
Select item 305173	NM_001122955.4(BSCL2):c.1234+14T>G	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Congenital generalized lipodystrophy type 2 +2 more	GConflicting classifications of pathogenicity
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 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)	Inborn genetic diseases +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 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 128533	NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=)	BSCL2, HNRNPUL2-BSCL2 (K268R)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +8 more	GBenign
Select item 199176	NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu)	BSCL2, HNRNPUL2-BSCL2 (P367L +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital generalized lipodystrophy +6 more	GConflicting classifications of pathogenicity
Select item 305174	NM_001122955.4(BSCL2):c.1054A>G (p.Ile352Val)	BSCL2, HNRNPUL2-BSCL2 (I288V +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital generalized lipodystrophy type 2 +1 more	GUncertain significance
Select item 879798	NM_001122955.4(BSCL2):c.991C>T (p.Arg331Cys)	BSCL2, HNRNPUL2-BSCL2 (R331C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Neuronopathy, distal hereditary motor, type 5A +2 more	GUncertain significance
Select item 879799	NM_001122955.4(BSCL2):c.986G>A (p.Arg329Gln)	BSCL2, HNRNPUL2-BSCL2 (R265Q +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Neuronopathy, distal hereditary motor, type 5A +5 more	GUncertain significance
Select item 305175	NM_001122955.4(BSCL2):c.939C>T (p.Ile313=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2 +5 more	GBenign/Likely benign
Select item 305176	NM_001122955.4(BSCL2):c.861C>T (p.Leu287=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 305177	NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val)	BSCL2, HNRNPUL2-BSCL2 (A218V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	BSCL2-related condition +7 more	GConflicting classifications of pathogenicity
Select item 305178	NM_001122955.4(BSCL2):c.823G>A (p.Gly275Arg)	BSCL2, HNRNPUL2-BSCL2 (G211R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 515141	NM_001122955.4(BSCL2):c.810C>T (p.Arg270=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 257499	NM_001122955.4(BSCL2):c.765+15C>T	HNRNPUL2-BSCL2, BSCL2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 305179	NM_001122955.4(BSCL2):c.745G>T (p.Ala249Ser)	BSCL2, HNRNPUL2-BSCL2 (A249S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronopathy, distal hereditary motor, type 5A +2 more	GUncertain significance
Select item 246574	NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr)	BSCL2, HNRNPUL2-BSCL2 (A185T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronopathy, distal hereditary motor, type 5A +4 more	GConflicting classifications of pathogenicity
Select item 305180	NM_001122955.4(BSCL2):c.615C>T (p.Ser205=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 220467	NM_001122955.4(BSCL2):c.588C>T (p.Cys196=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia +6 more	GConflicting classifications of pathogenicity
Select item 305181	NM_001122955.4(BSCL2):c.544C>A (p.Pro182Thr)	BSCL2, HNRNPUL2-BSCL2 (P118T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronopathy, distal hereditary motor, type 5A +1 more	GUncertain significance
Select item 257497	NM_001122955.4(BSCL2):c.486+11G>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Severe neurodegenerative syndrome with lipodystrophy +7 more	GBenign
Select item 246599	NM_001122955.4(BSCL2):c.448G>A (p.Val150Ile)	BSCL2, HNRNPUL2-BSCL2 (V150I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronopathy, distal hereditary motor, type 5A +4 more	GConflicting classifications of pathogenicity
Select item 631661	NM_001122955.4(BSCL2):c.424A>G (p.Thr142Ala)	BSCL2, HNRNPUL2-BSCL2 (T142A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital generalized lipodystrophy type 2 +1 more	GUncertain significance
Select item 305182	NM_001122955.4(BSCL2):c.184C>T (p.Leu62Phe)	BSCL2, HNRNPUL2-BSCL2 (L62F)	Single nucleotide variant (non-coding transcript variant +2 more)	BSCL2-related condition +2 more	GUncertain significance
Select item 305183	NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser)	BSCL2, HNRNPUL2-BSCL2 (G45S)	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary spastic paraplegia 17 +6 more	GBenign/Likely benign
Select item 305184	NM_001122955.4(BSCL2):c.131G>A (p.Gly44Asp)	HNRNPUL2-BSCL2, BSCL2 (G44D)	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital generalized lipodystrophy type 2 +1 more	GUncertain significance
Select item 305185	NM_001122955.4(BSCL2):c.124C>T (p.Arg42Cys)	BSCL2, HNRNPUL2-BSCL2 (R42C)	Single nucleotide variant (non-coding transcript variant +2 more)	Neuronopathy, distal hereditary motor, type 5A +3 more	GConflicting classifications of pathogenicity
Select item 305186	NM_001122955.4(BSCL2):c.88-613G>A	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital generalized lipodystrophy type 2 +2 more	GBenign/Likely benign
Select item 305187	NM_001122955.4(BSCL2):c.88-620A>C	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital generalized lipodystrophy type 2 +1 more	GUncertain significance
Select item 305188	NM_001122955.4(BSCL2):c.88-634G>C	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (5 prime UTR variant +1 more)	Neuronopathy, distal hereditary motor, type 5A +1 more	GLikely benign
Select item 305189	NM_001122955.4(BSCL2):c.88-662C>A	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 305190	NM_001122955.4(BSCL2):c.88-663G>A	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 305191	NM_001122955.4(BSCL2):c.88-674G>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital generalized lipodystrophy type 2 +1 more	GConflicting classifications of pathogenicity

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Items: 38