C3150988[trait identifier] AND "Clinical Genetics DNA and cytogenetics - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 95478	NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)	PNKP (L454M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +5 more	GConflicting classifications of pathogenicity
Select item 4847	NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs)	PNKP (T424fs)	Duplication (frameshift variant)	Intellectual disability +5 more	GPathogenic
Select item 95477	NM_007254.4(PNKP):c.1189-10del	PNKP	Deletion (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 95476	NM_007254.4(PNKP):c.1127-8C>T	PNKP	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 206401	NM_007254.4(PNKP):c.1029+2T>C	PNKP	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 138717	NM_007254.4(PNKP):c.939T>C (p.Phe313=)	PNKP	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 95489	NM_007254.4(PNKP):c.831G>A (p.Thr277=)	PNKP	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 12 +4 more	GConflicting classifications of pathogenicity
Select item 1285218	NM_007254.4(PNKP):c.817-12C>T	PNKP	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 12	GLikely benign
Select item 138712	NM_007254.4(PNKP):c.783G>A (p.Pro261=)	PNKP	Single nucleotide variant (synonymous variant)	Microcephaly, seizures, and developmental delay +4 more	GBenign/Likely benign
Select item 138711	NM_007254.4(PNKP):c.672C>T (p.Arg224=)	PNKP	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 95484	NM_007254.4(PNKP):c.579G>A (p.Arg193=)	PNKP	Single nucleotide variant (synonymous variant)	Microcephaly, seizures, and developmental delay +6 more	GBenign/Likely benign
Select item 95483	NM_007254.4(PNKP):c.538C>A (p.Arg180Ser)	PNKP (R180S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +6 more	GBenign/Likely benign
Select item 159792	NM_007254.4(PNKP):c.188C>T (p.Ala63Val)	PNKP (A63V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 95486	NM_007254.4(PNKP):c.58C>T (p.Pro20Ser)	PNKP (P20S)	Single nucleotide variant (missense variant)	Microcephaly, seizures, and developmental delay +4 more	GBenign/Likely benign
Select item 502172	NM_015192.4(PLCB1):c.1230G>A (p.Ser410=)	PLCB1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 129902	NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys)	PLCB1 (Y490C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 12 +5 more	GConflicting classifications of pathogenicity