"Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic"[submitt - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193938	NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His)	BSCL2, HNRNPUL2-BSCL2 (R456H +2 more)	Single nucleotide variant (missense variant +2 more)	Monogenic diabetes +5 more	GConflicting classifications of pathogenicity
Select item 393431	NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1])	HNRNPUL2-BSCL2, BSCL2	Microsatellite (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2 +6 more	GConflicting classifications of pathogenicity
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)	Severe neurodegenerative syndrome with lipodystrophy +10 more	GConflicting classifications of pathogenicity
Select item 696445	NM_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del)	BSCL2, HNRNPUL2-BSCL2 (E340del +2 more)	Microsatellite (inframe_deletion +2 more)	Congenital generalized lipodystrophy type 2 +4 more	GConflicting classifications of pathogenicity
Select item 210545	NM_001122955.4(BSCL2):c.1031C>T (p.Ser344Phe)	BSCL2, HNRNPUL2-BSCL2 (S280F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Monogenic diabetes +6 more	GConflicting classifications of pathogenicity
Select item 305177	NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val)	HNRNPUL2-BSCL2, BSCL2 (A218V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	BSCL2-related condition +7 more	GConflicting classifications of pathogenicity
Select item 393433	NM_001122955.4(BSCL2):c.199A>C (p.Asn67His)	BSCL2, HNRNPUL2-BSCL2 (N3H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2 +5 more	GUncertain significance