Related gene-specific medical variations for Gene (Select 23646) - ClinVar - NCBI

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Links from Gene

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2906332	NM_012268.4(PLD3):c.430-4G>T	MIR6796, PLD3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2885616	NM_012268.4(PLD3):c.814C>T (p.Arg272Cys)	LOC121852988, PLD3 (R272C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413985	NM_012268.4(PLD3):c.430-15C>G	MIR6796, PLD3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2044702	NM_012268.4(PLD3):c.430-5C>T	MIR6796, PLD3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2042186	NM_012268.4(PLD3):c.430-4G>A	MIR6796, PLD3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1995573	NM_012268.4(PLD3):c.430-5C>G	MIR6796, PLD3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1952630	NM_012268.4(PLD3):c.877G>A (p.Ala293Thr)	LOC121852988, PLD3 (A293T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1914105	NM_012268.4(PLD3):c.788C>T (p.Ser263Leu)	LOC121852988, PLD3 (S263L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908297	NM_012268.4(PLD3):c.879G>A (p.Ala293=)	LOC121852988, PLD3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1686093	NM_012268.4(PLD3):c.851A>G (p.Asn284Ser)	LOC121852988, PLD3 (N284S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 803559	NM_181882.3(PRX):c.3379A>T (p.Lys1127Ter)	PLD3, PRX (K1127*)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +3 more	GPathogenic/Likely pathogenic
Select item 803558	NC_000019.10:g.40394766del	PLD3, PRX (G1196fs)	Deletion (3 prime UTR variant +1 more)	Spinocerebellar ataxia 46	GPathogenic
Select item 637402	NM_181882.3(PRX):c.3198del (p.Phe1066fs)	PLD3, PRX (F1066fs)	Deletion (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +3 more	GPathogenic/Likely pathogenic
Select item 215547	NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del)	PLD3, PRX (E1361del)	Microsatellite (inframe_deletion +1 more)	Charcot-Marie-Tooth disease type 4 +5 more	GBenign