Related gene-specific medical variations for Gene (Select 5365) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689790	NM_005393.3(PLXNB3):c.1066C>T (p.Arg356Cys)	PLXNB3 (R356C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689789	NM_005393.3(PLXNB3):c.3004C>T (p.Arg1002Cys)	PLXNB3 (R1002C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2673267	NM_005393.3(PLXNB3):c.46-613G>A	PLXNB3, PLXNB3-AS1 (R17Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2661716	NM_005393.3(PLXNB3):c.39C>G (p.His13Gln)	PLXNB3, PLXNB3-AS1 (H13Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2661715	NM_005393.3(PLXNB3):c.5G>A (p.Cys2Tyr)	PLXNB3, PLXNB3-AS1 (C2Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2428539	NM_005393.3(PLXNB3):c.2507G>A (p.Ser836Asn)	PLXNB3 (S836N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2381822	NM_005393.3(PLXNB3):c.46-565G>A	PLXNB3, PLXNB3-AS1 (R33Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1696527	NM_005393.3(PLXNB3):c.220C>T (p.Leu74Phe)	PLXNB3 (L74F +1 more)	Single nucleotide variant (missense variant)	PLXNB3-related Intellectual disability	GUncertain significance
Select item 726222	NM_005393.3(PLXNB3):c.1A>G (p.Met1Val)	PLXNB3, PLXNB3-AS1 (M1V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign