ClinVar for MedGen (Select 863517) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065382	NM_001813.3(CENPE):c.885del (p.Leu296fs)	CENPE (L296fs)	Deletion (frameshift variant)	Microcephaly 13, primary, autosomal recessive	GLikely pathogenic
Select item 3065153	NM_001813.3(CENPE):c.1403_1404del (p.Glu468fs)	CENPE (E468fs)	Microsatellite (frameshift variant)	Microcephaly 13, primary, autosomal recessive	GLikely pathogenic
Select item 2499543	NM_001813.3(CENPE):c.2748dup (p.Leu917fs)	CENPE (L892fs +1 more)	Duplication (frameshift variant)	Microcephaly 13, primary, autosomal recessive	GUncertain significance
Select item 2439895	NM_001813.3(CENPE):c.3494A>G (p.Asn1165Ser)	CENPE (N1140S +1 more)	Single nucleotide variant (missense variant)	Microcephaly 13, primary, autosomal recessive +1 more	GUncertain significance
Select item 1805810	NM_001813.3(CENPE):c.6817G>A (p.Glu2273Lys)	CENPE (E2152K +1 more)	Single nucleotide variant (missense variant)	Microcephaly 13, primary, autosomal recessive	GUncertain significance
Select item 1679844	NM_001813.3(CENPE):c.80C>T (p.Ala27Val)	CENPE (A27V)	Single nucleotide variant (missense variant)	Microcephaly 13, primary, autosomal recessive	GUncertain significance
Select item 1209847	NM_001813.3(CENPE):c.6269C>T (p.Thr2090Met)	CENPE (T1969M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1209806	NM_001813.3(CENPE):c.243T>C (p.Thr81=)	CENPE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1209805	NM_001813.3(CENPE):c.2025G>A (p.Gln675=)	CENPE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1209804	NM_001813.3(CENPE):c.5502G>A (p.Thr1834=)	CENPE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1032006	NM_001813.3(CENPE):c.7187G>A (p.Ser2396Asn)	CENPE (S2275N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1030481	NM_001813.3(CENPE):c.5035G>A (p.Glu1679Lys)	CENPE (E1679K +1 more)	Single nucleotide variant (missense variant)	Microcephaly 13, primary, autosomal recessive +1 more	GUncertain significance
Select item 1030480	NM_001813.3(CENPE):c.1722+5G>A	CENPE	Single nucleotide variant (intron variant)	Microcephaly 13, primary, autosomal recessive	GUncertain significance
Select item 932106	NM_001813.3(CENPE):c.2132-1G>C	CENPE	Single nucleotide variant (splice acceptor variant)	Microcephaly 13, primary, autosomal recessive	GLikely pathogenic
Select item 434697	NM_001813.3(CENPE):c.304C>T (p.His102Tyr)	CENPE (H102Y)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 157498	NM_001813.3(CENPE):c.4063A>G (p.Lys1355Glu)	CENPE (K1355E +1 more)	Single nucleotide variant (missense variant)	Microcephaly 13, primary, autosomal recessive +1 more	GUncertain significance
Select item 157497	NM_001813.3(CENPE):c.2797G>A (p.Asp933Asn)	CENPE (D933N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic