"PDXK-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1231720	NM_003681.5(PDXK):c.143-116A>G	PDXK (M1V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 3040150	NM_003681.5(PDXK):c.143-115T>C	PDXK (M1T)	Single nucleotide variant (missense variant +2 more)	PDXK-related disorder	GBenign
Select item 3061003	NM_003681.5(PDXK):c.143-100C>T	PDXK (P6L)	Single nucleotide variant (missense variant +1 more)	PDXK-related disorder	GUncertain significance
Select item 3045920	NM_003681.5(PDXK):c.255G>A (p.Thr85=)	PDXK	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1268466	NM_003681.5(PDXK):c.387G>A (p.Pro129=)	PDXK	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 3055680	NM_003681.5(PDXK):c.426G>A (p.Pro142=)	PDXK	Single nucleotide variant (synonymous variant)	PDXK-related disorder	GBenign
Select item 1246998	NM_003681.5(PDXK):c.639C>T (p.Ser213=)	PDXK	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 636264	NM_003681.5(PDXK):c.682G>A (p.Ala228Thr)	PDXK (A228T +1 more)	Single nucleotide variant (missense variant)	PDXK-related disorder	GPathogenic
Select item 1241161	NM_003681.5(PDXK):c.760-8C>A	PDXK	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2652726	NM_003681.5(PDXK):c.834C>T (p.Ala278=)	PDXK	Single nucleotide variant (synonymous variant)	PDXK-related disorder +1 more	GLikely benign
Select item 3048934	NM_003681.5(PDXK):c.*8G>A	PDXK	Single nucleotide variant (3 prime UTR variant)	PDXK-related disorder	GBenign