Related gene-specific medical variations for Gene (Select 5361) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358504	NM_032242.4(PLXNA1):c.2995C>T (p.Arg999Trp)	LOC129937476, PLXNA1 (R999W)	Single nucleotide variant (missense variant)	PLXNA1-related disorder	GUncertain significance
Select item 3358153	NM_032242.4(PLXNA1):c.3008_3010del (p.Phe1003del)	LOC129937476, PLXNA1 (F1003del)	Deletion (inframe_deletion)	PLXNA1-related disorder	GUncertain significance
Select item 3355838	NM_032242.4(PLXNA1):c.2939G>T (p.Gly980Val)	LOC129937476, PLXNA1 (G980V)	Single nucleotide variant (missense variant)	PLXNA1-related disorder	GUncertain significance
Select item 3354415	NM_032242.4(PLXNA1):c.2880A>G (p.Thr960=)	LOC129937476, PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related disorder	GLikely benign
Select item 3354401	NM_032242.4(PLXNA1):c.2935A>C (p.Ile979Leu)	LOC129937476, PLXNA1 (I979L)	Single nucleotide variant (missense variant)	PLXNA1-related disorder	GUncertain significance
Select item 3353244	NM_032242.4(PLXNA1):c.3012C>T (p.Ser1004=)	LOC129937476, PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related disorder	GLikely benign
Select item 3350600	NM_032242.4(PLXNA1):c.2909G>A (p.Arg970His)	LOC129937476, PLXNA1 (R970H)	Single nucleotide variant (missense variant)	PLXNA1-related disorder	GUncertain significance
Select item 3348583	NM_032242.4(PLXNA1):c.2993G>A (p.Gly998Asp)	LOC129937476, PLXNA1 (G998D)	Single nucleotide variant (missense variant)	PLXNA1-related disorder	GUncertain significance
Select item 3347880	NM_032242.4(PLXNA1):c.2996G>A (p.Arg999Gln)	LOC129937476, PLXNA1 (R999Q)	Single nucleotide variant (missense variant)	PLXNA1-related disorder	GUncertain significance
Select item 3307891	NM_032242.4(PLXNA1):c.2978C>T (p.Ala993Val)	LOC129937476, PLXNA1 (A993V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068005	NM_032242.4(PLXNA1):c.2111A>G (p.Glu704Gly)	PLXNA1 (E704G)	Single nucleotide variant (missense variant)	Dworschak-Punetha neurodevelopmental syndrome	GLikely pathogenic
Select item 3065648	NM_032242.4(PLXNA1):c.1043G>C (p.Arg348Pro)	PLXNA1 (R348P)	Single nucleotide variant (missense variant)	Dworschak-Punetha neurodevelopmental syndrome	GUncertain significance
Select item 3064773	NM_032242.4(PLXNA1):c.1643A>G (p.Glu548Gly)	PLXNA1 (E548G)	Single nucleotide variant (missense variant)	Dworschak-Punetha neurodevelopmental syndrome	GUncertain significance
Select item 3057431	NM_032242.4(PLXNA1):c.2988C>T (p.Val996=)	LOC129937476, PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related disorder	GLikely benign
Select item 3049216	NM_032242.4(PLXNA1):c.2908C>T (p.Arg970Cys)	LOC129937476, PLXNA1 (R970C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032821	NM_032242.4(PLXNA1):c.2961C>T (p.Asn987=)	LOC129937476, PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related disorder	GLikely benign
Select item 2779678	NM_032242.4(PLXNA1):c.2878-10C>G	LOC129937476, PLXNA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2689788	NM_032242.4(PLXNA1):c.5596-8C>T	PLXNA1	Single nucleotide variant (intron variant)	Dworschak-Punetha neurodevelopmental syndrome	GUncertain significance
Select item 2689787	NM_032242.4(PLXNA1):c.5182A>G (p.Lys1728Glu)	PLXNA1 (K1728E)	Single nucleotide variant (missense variant)	Dworschak-Punetha neurodevelopmental syndrome	GUncertain significance
Select item 2672953	NM_032242.4(PLXNA1):c.2893C>T (p.Arg965Cys)	LOC129937476, PLXNA1 (R965C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502183	NM_032242.4(PLXNA1):c.2095del (p.Arg699fs)	PLXNA1 (R699fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with variable cerebral and eye anomalies	GLikely pathogenic
Select item 2419397	NM_032242.4(PLXNA1):c.2972A>G (p.Asp991Gly)	LOC129937476, PLXNA1 (D991G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2313404	NM_032242.4(PLXNA1):c.2962G>A (p.Ala988Thr)	LOC129937476, PLXNA1 (A988T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259619	NM_032242.4(PLXNA1):c.2995C>G (p.Arg999Gly)	LOC129937476, PLXNA1 (R999G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1632215	NM_032242.4(PLXNA1):c.3006C>T (p.Ser1002=)	LOC129937476, PLXNA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1342549	NM_032242.4(PLXNA1):c.386C>T (p.Ala129Val)	PLXNA1 (A129V)	Single nucleotide variant (missense variant)	PLXNA1-associated encephalopathy	GUncertain significance
Select item 1325617	NM_032242.4(PLXNA1):c.433G>A (p.Asp145Asn)	PLXNA1 (D145N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 996912	NM_032242.4(PLXNA1):c.2076C>G (p.Asp692Glu)	PLXNA1 (D692E)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 710200	NM_032242.4(PLXNA1):c.3014+4C>T	LOC129937476, PLXNA1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign

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Items: 29