ClinVar for MedGen (Select 945467) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1418830	NM_001122955.4(BSCL2):c.405-11A>G	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 641509	NM_001122955.4(BSCL2):c.478C>A (p.Arg160Ser)	BSCL2, HNRNPUL2-BSCL2 (R160S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
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 476810	NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp)	BSCL2, HNRNPUL2-BSCL2 (S154W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 424623	NM_001122955.4(BSCL2):c.844_854del (p.Ala282fs)	BSCL2, HNRNPUL2-BSCL2 (A218fs +1 more)	Deletion (non-coding transcript variant +1 more)	Congenital generalized lipodystrophy type 2 +1 more	GPathogenic/Likely pathogenic
Select item 372120	NM_001122955.4(BSCL2):c.974dup (p.Ile326fs)	BSCL2, HNRNPUL2-BSCL2 (I326fs +1 more)	Duplication (non-coding transcript variant +2 more)	Congenital generalized lipodystrophy type 2 +6 more	GPathogenic
Select item 372119	NM_001122955.4(BSCL2):c.864-2A>G	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant +1 more)	Berardinelli-Seip congenital lipodystrophy	GUncertain significance
Select item 372117	NM_001122955.4(BSCL2):c.766-2A>G	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (splice acceptor variant)	Congenital generalized lipodystrophy type 2	GPathogenic
Select item 372116	NM_001122955.4(BSCL2):c.385delinsGGA (p.Pro129fs)	BSCL2, HNRNPUL2-BSCL2 (P65fs +1 more)	Indel (non-coding transcript variant +1 more)	Berardinelli-Seip congenital lipodystrophy	GUncertain significance
Select item 372115	NM_001122955.4(BSCL2):c.346_347dup (p.Tyr117fs)	BSCL2, HNRNPUL2-BSCL2 (Y117fs +1 more)	Duplication (non-coding transcript variant +1 more)	Berardinelli-Seip congenital lipodystrophy	GUncertain significance
Select item 143859	NM_001122955.4(BSCL2):c.538G>T (p.Glu180Ter)	BSCL2, HNRNPUL2-BSCL2 (E180* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Berardinelli-Seip congenital lipodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 143858	NM_001122955.4(BSCL2):c.985C>T (p.Arg329Ter)	BSCL2, HNRNPUL2-BSCL2 (R329*)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic
Select item 4546	NM_001122955.4(BSCL2):c.757G>T (p.Glu253Ter)	BSCL2, HNRNPUL2-BSCL2 (E189* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital generalized lipodystrophy type 2 +1 more	GPathogenic
Select item 4545	NM_001122955.4(BSCL2):c.1015C>T (p.Arg339Ter)	BSCL2, HNRNPUL2-BSCL2 (R339*)	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital generalized lipodystrophy type 2	GPathogenic
Select item 4544	NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)	BSCL2, HNRNPUL2-BSCL2 (S90L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2 +3 more	GPathogenic/Likely pathogenic
Select item 4543	NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)	BSCL2, HNRNPUL2-BSCL2 (N88S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronopathy, distal hereditary motor, type 5C +8 more	GPathogenic
Select item 4542	NM_001122955.4(BSCL2):c.864-3C>G	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Berardinelli-Seip congenital lipodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 4541	NM_001122955.4(BSCL2):c.863+5G>A	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 4540	NM_001122955.4(BSCL2):c.828del (p.Tyr277fs)	HNRNPUL2-BSCL2, BSCL2 (Y213fs +1 more)	Deletion (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 4539	NM_001122955.4(BSCL2):c.826G>C (p.Ala276Pro)	BSCL2, HNRNPUL2-BSCL2 (A212P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 4538	NM_001122955.4(BSCL2):c.630+1G>A	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (splice donor variant)	Berardinelli-Seip congenital lipodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 4537	NM_001122955.4(BSCL2):c.604C>T (p.Arg202Ter)	BSCL2, HNRNPUL2-BSCL2 (R138* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronopathy, distal hereditary motor, type 5C +2 more	GPathogenic
Select item 4536	NM_001122955.4(BSCL2):c.517dup (p.Thr173fs)	BSCL2, HNRNPUL2-BSCL2 (T109fs +1 more)	Duplication (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 17 +4 more	GPathogenic
Select item 4535	NM_001122955.4(BSCL2):c.509_513del (p.Tyr170fs)	BSCL2, HNRNPUL2-BSCL2 (Y170fs +1 more)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 4533	NM_001122955.4(BSCL2):c.507_508del (p.Tyr170fs)	BSCL2, HNRNPUL2-BSCL2 (Y170fs +1 more)	Deletion (non-coding transcript variant +1 more)	Berardinelli-Seip congenital lipodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 4532	NM_001122955.4(BSCL2):c.493_494insAA (p.Met165fs)	BSCL2, HNRNPUL2-BSCL2 (M101fs +1 more)	Insertion (non-coding transcript variant +1 more)	Congenital generalized lipodystrophy type 2	GPathogenic
Select item 4531	NM_001122955.4(BSCL2):c.384_385delinsGGA (p.Ser128fs)	BSCL2, HNRNPUL2-BSCL2 (S64fs +1 more)	Indel (frameshift variant +1 more)	Berardinelli-Seip congenital lipodystrophy +1 more	GConflicting classifications of pathogenicity

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Items: 34