C3150667[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 285527	NM_007254.4(PNKP):c.1559A>G (p.Glu520Gly)	PNKP (E520G)	Single nucleotide variant (missense variant)	Ataxia - oculomotor apraxia type 4 +3 more	GUncertain significance
Select item 565845	NM_007254.4(PNKP):c.1430T>C (p.Met477Thr)	PNKP (M477T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 206415	NM_007254.4(PNKP):c.1391G>C (p.Arg464Pro)	PNKP (R464P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +4 more	GUncertain significance
Select item 560654	NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu)	PNKP (F463L)	Single nucleotide variant (missense variant)	Ataxia - oculomotor apraxia type 4 +2 more	GUncertain significance
Select item 409614	NM_007254.4(PNKP):c.1381A>G (p.Asn461Asp)	PNKP (N461D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 194242	NM_007254.4(PNKP):c.1177C>T (p.His393Tyr)	PNKP (H393Y)	Single nucleotide variant (missense variant)	Ataxia - oculomotor apraxia type 4 +4 more	GUncertain significance
Select item 582794	NM_007254.4(PNKP):c.1003G>A (p.Gly335Ser)	PNKP (G335S)	Single nucleotide variant (missense variant)	Ataxia - oculomotor apraxia type 4 +3 more	GUncertain significance
Select item 206399	NM_007254.4(PNKP):c.1003G>T (p.Gly335Cys)	PNKP (G335C)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay +2 more	GUncertain significance
Select item 95491	NM_007254.4(PNKP):c.901C>T (p.Arg301Trp)	PNKP (R301W)	Single nucleotide variant (missense variant)	PNKP-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 1453676	NM_007254.4(PNKP):c.721G>T (p.Glu241Ter)	PNKP (E241*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 12 +3 more	GPathogenic/Likely pathogenic
Select item 138710	NM_007254.4(PNKP):c.636+7G>A	PNKP	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B2 +4 more	GBenign/Likely benign
Select item 198198	NM_007254.4(PNKP):c.625G>A (p.Glu209Lys)	PNKP (E209K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B2 +5 more	GUncertain significance
Select item 95484	NM_007254.4(PNKP):c.579G>A (p.Arg193=)	PNKP	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 95483	NM_007254.4(PNKP):c.538C>A (p.Arg180Ser)	PNKP (R180S)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 743299	NM_007254.4(PNKP):c.499-7A>C	PNKP	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B2 +3 more	GLikely benign
Select item 159794	NM_007254.4(PNKP):c.416G>A (p.Arg139His)	PNKP (R139H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 197287	NM_007254.4(PNKP):c.290A>G (p.Asn97Ser)	PNKP (N97S)	Single nucleotide variant (missense variant)	Ataxia - oculomotor apraxia type 4 +5 more	GUncertain significance
Select item 568677	NM_007254.4(PNKP):c.131G>A (p.Arg44Gln)	PNKP (R44Q)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay +2 more	GUncertain significance
Select item 471506	NM_007254.4(PNKP):c.58C>A (p.Pro20Thr)	PNKP (P20T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance