"Practice for Gait Abnormalities, David Pomarino, Competency Network T - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 220725	NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser)	SBF2, SBF2-AS1 +1 more (R1686S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 403861	NM_030962.4(SBF2):c.4394G>A (p.Gly1465Glu)	SBF2, SBF2-AS1 (G1465E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 546658	NM_030962.4(SBF2):c.3866G>A (p.Arg1289Gln)	SBF2 (R1289Q +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +3 more	GUncertain significance
Select item 246062	NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn)	LOC101928008, SBF2 (T1097N +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +5 more	GConflicting classifications of pathogenicity
Select item 623763	NM_030962.4(SBF2):c.2476G>A (p.Val826Ile)	LOC101928008, SBF2 (V826I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 194989	NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser)	LOC101928008, SBF2 (G775S +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 306600	NM_030962.4(SBF2):c.2197C>G (p.Gln733Glu)	LOC101928008, SBF2 (Q733E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity