Related gene-specific medical variations for Gene (Select 8541) - ClinVar - NCBI

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

Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369280	NM_003660.4(PPFIA3):c.172C>A (p.Leu58Met)	LOC130064903, PPFIA3 (L58M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360934	NM_003660.4(PPFIA3):c.1885C>T (p.Gln629Ter)	PPFIA3 (Q629*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3359683	NM_003660.4(PPFIA3):c.2488C>T (p.Arg830Cys)	PPFIA3 (R830C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359328	NM_003660.4(PPFIA3):c.1521-2A>G	PPFIA3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3358987	NM_003660.4(PPFIA3):c.2809-7G>A	PPFIA3	Single nucleotide variant (intron variant)	PPFIA3-associated neurodevelopmental disorder	GUncertain significance
Select item 3343356	NM_003660.4(PPFIA3):c.213G>T (p.Gln71His)	LOC130064903, PPFIA3 (Q71H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2672125	NM_003660.4(PPFIA3):c.2186_2193del (p.Gln729fs)	PPFIA3 (Q729fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2582699	NM_003660.4(PPFIA3):c.240+1G>A	LOC130064903, PPFIA3	Single nucleotide variant (splice donor variant)	PPFIA3-related disorder	GLikely pathogenic
Select item 2582698	NM_003660.4(PPFIA3):c.118G>A (p.Glu40Lys)	LOC130064903, PPFIA3 (E40K)	Single nucleotide variant (missense variant +1 more)	PPFIA3-related disorder	GLikely pathogenic
Select item 2430188	NM_003660.4(PPFIA3):c.239A>C (p.Gln80Pro)	LOC130064903, PPFIA3 (Q80P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2430185	NM_003660.4(PPFIA3):c.115C>T (p.Arg39Cys)	LOC130064903, PPFIA3 (R39C)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2280594	NM_003660.4(PPFIA3):c.3493C>G (p.Pro1165Ala)	LOC130064904, PPFIA3 (P1165A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1685032	NM_003660.4(PPFIA3):c.128T>A (p.Leu43Gln)	LOC130064903, PPFIA3 (L43Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance