"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1679180	NM_003622.4(PPFIBP1):c.403C>T (p.Arg135Ter)	PPFIBP1 (R135*)	Single nucleotide variant (5 prime UTR variant +1 more)	Cerebral calcification +3 more	GPathogenic
Select item 1679175	NM_003622.4(PPFIBP1):c.1146+1G>A	PPFIBP1	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities +4 more	GPathogenic
Select item 1679182	NM_003622.4(PPFIBP1):c.1300C>T (p.Gln434Ter)	PPFIBP1 (Q298* +3 more)	Single nucleotide variant (nonsense)	Cerebral calcification +3 more	GPathogenic
Select item 1679177	NM_003622.4(PPFIBP1):c.1368_1369del (p.Glu456fs)	PPFIBP1 (E320fs +3 more)	Microsatellite (frameshift variant)	Seizure +3 more	GPathogenic
Select item 1679181	NM_003622.4(PPFIBP1):c.1417_1427del (p.Ala473fs)	PPFIBP1 (A337fs +3 more)	Deletion (frameshift variant)	Cerebral calcification +3 more	GPathogenic
Select item 1679179	NM_003622.4(PPFIBP1):c.1468C>T (p.Gln490Ter)	PPFIBP1 (Q354* +3 more)	Single nucleotide variant (nonsense)	Cerebral calcification +3 more	GPathogenic
Select item 1691862	NM_003622.4(PPFIBP1):c.2158+2T>C	PPFIBP1	Single nucleotide variant (splice donor variant)	See cases	GPathogenic
Select item 1679120	NM_003622.4(PPFIBP1):c.2177G>T (p.Gly726Val)	PPFIBP1 (G579V +3 more)	Single nucleotide variant (missense variant)	Cerebral calcification +3 more	GUncertain significance
Select item 1679178	NM_003622.4(PPFIBP1):c.2413C>T (p.Arg805Ter)	PPFIBP1 (R658* +3 more)	Single nucleotide variant (nonsense)	Cerebral calcification +3 more	GPathogenic
Select item 1679183	NM_003622.4(PPFIBP1):c.2629C>T (p.Arg877Ter)	PPFIBP1 (R730* +3 more)	Single nucleotide variant (nonsense)	Cerebral calcification +3 more	GPathogenic
Select item 1679176	NM_003622.4(PPFIBP1):c.2654del (p.Tyr885fs)	PPFIBP1 (Y738fs +3 more)	Deletion (frameshift variant)	Cerebral calcification +3 more	GPathogenic