"Invitae"[submitter] AND "PLXNB2"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 793507	NM_012401.4(PLXNB2):c.3618C>T (p.Ile1206=)	PLXNB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 777764	NM_012401.4(PLXNB2):c.3591G>A (p.Pro1197=)	PLXNB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784994	NM_012401.4(PLXNB2):c.3333C>T (p.Leu1111=)	PLXNB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 716257	NM_012401.4(PLXNB2):c.2831C>T (p.Ala944Val)	LOC126863184, PLXNB2 (A967V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 790782	NM_012401.4(PLXNB2):c.2406G>A (p.Pro802=)	PLXNB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 764054	NM_012401.4(PLXNB2):c.1662G>A (p.Leu554=)	PLXNB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715209	NM_012401.4(PLXNB2):c.1128C>T (p.Arg376=)	PLXNB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 790783	NM_012401.4(PLXNB2):c.846C>T (p.Ala282=)	PLXNB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2425301	NC_000022.10:g.(?_50297486)_(51066207_?)del	CPT1B, ADM2 +29 more	Deletion	not provided	GPathogenic
Select item 2423149	NC_000022.10:g.(?_50167881)_(51066207_?)del	MLC1, MOV10L1 +31 more	Deletion	not provided	GPathogenic
Select item 1441357	NC_000022.10:g.(?_50167881)_(51066207_?)dup	TRABD, TTLL8 +31 more	Duplication	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 1071720	NC_000022.10:g.(?_50297466)_(51066227_?)del	ADM2, ALG12 +29 more	Deletion	ALG12-congenital disorder of glycosylation	GPathogenic