Related gene-specific medical variations for Gene (Select 11284) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248487	NC_000019.9:g.(?_50366993)_(50370363_?)del	PNKP	Deletion	Developmental and epileptic encephalopathy, 12	GPathogenic
Select item 3065388	NM_007254.4(PNKP):c.637-1G>C	PNKP	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease type 2B2	GLikely pathogenic
Select item 2689798	NM_007254.4(PNKP):c.662G>A (p.Ser221Asn)	PNKP (S221N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435102	NM_007254.4(PNKP):c.149A>T (p.Gln50Leu)	PNKP (Q50L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435101	NM_007254.4(PNKP):c.1123G>C (p.Gly375Arg)	PNKP (G375R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435100	NM_007254.4(PNKP):c.1376A>C (p.His459Pro)	PNKP (H459P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435098	NM_007254.4(PNKP):c.1481G>A (p.Gly494Asp)	PNKP (G494D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435097	NM_007254.4(PNKP):c.787A>T (p.Thr263Ser)	PNKP (T263S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432789	NM_007254.4(PNKP):c.1267_1286dup (p.Ser430fs)	PNKP (S430fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1324942	NM_007254.4(PNKP):c.1306_1307del (p.Gln436fs)	PNKP (Q436fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1324941	NM_007254.4(PNKP):c.1401_1404del (p.Asp468fs)	PNKP (D468fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 808621	NM_007254.4(PNKP):c.1043G>C (p.Arg348Pro)	PNKP (R348P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253359	GRCh37/hg19 19q13.33(chr19:50364553-50365166)x1	PNKP	Copy number loss	See cases	GLikely pathogenic
Select item 235246	NM_007254.4(PNKP):c.265dup (p.Val89fs)	PNKP (V89fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic