"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CENPE"[gen - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1216124	NM_001813.3(CENPE):c.8080G>A (p.Asp2694Asn)	CENPE (D2573N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1012502	NM_001813.3(CENPE):c.8008C>T (p.Pro2670Ser)	CENPE (P2549S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 434698	NM_001813.3(CENPE):c.7886G>A (p.Arg2629Gln)	CENPE (R2629Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1298966	NM_001813.3(CENPE):c.7732C>G (p.Gln2578Glu)	CENPE (Q2457E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 797524	NM_001813.3(CENPE):c.7542G>A (p.Val2514=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 218598	NM_001813.3(CENPE):c.6907T>A (p.Phe2303Ile)	CENPE (F2303I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 2654986	NM_001813.3(CENPE):c.6867C>A (p.Ile2289=)	CENPE	Single nucleotide variant (synonymous variant)	CENPE-related condition +1 more	GLikely benign
Select item 1202270	NM_001813.3(CENPE):c.6437A>G (p.Tyr2146Cys)	CENPE (Y2025C +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1012503	NM_001813.3(CENPE):c.6203G>C (p.Arg2068Thr)	CENPE (R2068T)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 709773	NM_001813.3(CENPE):c.5874A>G (p.Gln1958=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 434695	NM_001813.3(CENPE):c.4791A>C (p.Arg1597Ser)	CENPE (R1597S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3025726	NM_001813.3(CENPE):c.3687A>G (p.Thr1229=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 799138	NM_001813.3(CENPE):c.2706G>A (p.Thr902=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654987	NM_001813.3(CENPE):c.1932T>C (p.Leu644=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 444637	NM_001813.3(CENPE):c.1487T>C (p.Ile496Thr)	CENPE (I496T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 434697	NM_001813.3(CENPE):c.304C>T (p.His102Tyr)	CENPE (H102Y)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2654988	NM_001813.3(CENPE):c.204A>G (p.Ala68=)	CENPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic