Related gene-specific medical variations for Gene (Select 5321) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362555	NM_024420.3(PLA2G4A):c.607del (p.Val203fs)	PLA2G4A (V143fs +1 more)	Deletion (frameshift variant)	Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder	GLikely pathogenic
Select item 2992502	NM_024420.3(PLA2G4A):c.1281G>A (p.Lys427=)	LOC129388668, PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906548	NM_024420.3(PLA2G4A):c.1304C>T (p.Ser435Leu)	LOC129388668, PLA2G4A (S375L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885878	NM_024420.3(PLA2G4A):c.1310_1312del (p.Ser437_Asp438delinsAsn)	LOC129388668, PLA2G4A	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 2880637	NM_024420.3(PLA2G4A):c.1336+12G>A	LOC129388668, PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792598	NM_024420.3(PLA2G4A):c.1336+16A>C	LOC129388668, PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2618992	NM_024420.3(PLA2G4A):c.1291A>C (p.Ser431Arg)	LOC129388668, PLA2G4A (S371R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2019729	NM_024420.3(PLA2G4A):c.1336+3G>A	LOC129388668, PLA2G4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1985126	NM_024420.3(PLA2G4A):c.1295A>G (p.Asn432Ser)	LOC129388668, PLA2G4A (N372S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1953198	NM_024420.3(PLA2G4A):c.1336+11C>T	LOC129388668, PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901295	NM_024420.3(PLA2G4A):c.1336+13G>C	LOC129388668, PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 979314	GRCh37/hg19 1q31.1(chr1:186912015-187132574)x3	PLA2G4A	Copy number gain	not provided	GLikely pathogenic