"PreventionGenetics, part of Exact Sciences"[submitter] AND "PLXNB3"[g - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3040913	NM_005393.3(PLXNB3):c.305G>A (p.Arg102His)	PLXNB3 (R102H +1 more)	Single nucleotide variant (missense variant)	PLXNB3-related disorder	GLikely benign
Select item 2630640	NM_005393.3(PLXNB3):c.397G>A (p.Gly133Arg)	PLXNB3 (G133R +1 more)	Single nucleotide variant (missense variant)	PLXNB3-related disorder	GUncertain significance
Select item 3045322	NM_005393.3(PLXNB3):c.1016G>A (p.Arg339Gln)	PLXNB3 (R339Q +1 more)	Single nucleotide variant (missense variant)	PLXNB3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2367620	NM_005393.3(PLXNB3):c.1925G>A (p.Arg642Gln)	PLXNB3 (R642Q +1 more)	Single nucleotide variant (missense variant)	PLXNB3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2636271	NM_005393.3(PLXNB3):c.1940C>A (p.Pro647Gln)	PLXNB3 (P647Q +1 more)	Single nucleotide variant (missense variant)	PLXNB3-related disorder	GUncertain significance
Select item 3043507	NM_005393.3(PLXNB3):c.2023G>A (p.Val675Met)	PLXNB3 (V675M +1 more)	Single nucleotide variant (missense variant)	PLXNB3-related disorder	GLikely benign
Select item 2636499	NM_005393.3(PLXNB3):c.3348dup (p.Ala1117fs)	PLXNB3 (A1117fs +1 more)	Duplication (frameshift variant)	PLXNB3-related disorder	GUncertain significance
Select item 2629741	NM_005393.3(PLXNB3):c.3377T>A (p.Leu1126Gln)	PLXNB3 (L1126Q +1 more)	Single nucleotide variant (missense variant)	PLXNB3-related disorder	GUncertain significance
Select item 3046900	NM_005393.3(PLXNB3):c.4003A>T (p.Thr1335Ser)	PLXNB3 (T1335S +1 more)	Single nucleotide variant (missense variant)	PLXNB3-related disorder	GLikely benign
Select item 2629598	NM_005393.3(PLXNB3):c.5401G>A (p.Val1801Met)	PLXNB3 (V1801M +1 more)	Single nucleotide variant (missense variant)	PLXNB3-related disorder	GUncertain significance
Select item 3053780	NM_005393.3(PLXNB3):c.5491C>T (p.Arg1831Cys)	PLXNB3 (R1831C +1 more)	Single nucleotide variant (missense variant)	PLXNB3-related disorder	GLikely benign