ClinVar for MedGen (Select 766496) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2581612	NM_001353108.3(CEP63):c.490C>T (p.Gln164Ter)	CEP63 (Q136* +3 more)	Single nucleotide variant (nonsense +1 more)	Seckel syndrome 6	GPathogenic
Select item 2505567	NM_001353108.3(CEP63):c.790-11C>G	CEP63	Single nucleotide variant (intron variant)	Seckel syndrome 6	GUncertain significance
Select item 2431057	NM_001353108.3(CEP63):c.1835del (p.Ser611_Leu612insTer)	CEP63	Deletion (nonsense +2 more)	Seckel syndrome 6	GLikely pathogenic
Select item 1593774	NM_001353108.3(CEP63):c.1368A>G (p.Ala456=)	CEP63	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1209686	NM_001042384.2(CEP63):c.1330-16A>G	CEP63	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1120221	NM_001353108.3(CEP63):c.595del (p.Glu199fs)	CEP63 (E171fs +3 more)	Deletion (frameshift variant +1 more)	Seckel syndrome 6	GLikely pathogenic
Select item 1120220	NM_001353108.3(CEP63):c.1125T>G (p.Tyr375Ter)	CEP63 (Y208* +4 more)	Single nucleotide variant (nonsense +1 more)	Seckel syndrome 6	GLikely pathogenic
Select item 1030913	NM_001353108.3(CEP63):c.1657A>G (p.Lys553Glu)	CEP63 (K553E +1 more)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 6 +1 more	GUncertain significance
Select item 977835	NM_001353108.3(CEP63):c.790-2A>G	CEP63	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 434753	NM_001353108.3(CEP63):c.935G>A (p.Arg312Gln)	CEP63 (R312Q)	Single nucleotide variant (missense variant +2 more)	Seckel syndrome 6 +2 more	GUncertain significance
Select item 434752	NM_001353108.3(CEP63):c.1973C>A (p.Pro658His)	CEP63 (P658H +6 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GUncertain significance
Select item 377098	NM_001353108.3(CEP63):c.668A>G (p.Asn223Ser)	CEP63 (N223S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 225312	NM_001353108.3(CEP63):c.182_185dup (p.Lys62delinsAsnTer)	CEP63	Duplication (nonsense +2 more)	Seckel syndrome 6	GLikely pathogenic
Select item 210698	NM_001353108.3(CEP63):c.1068-1G>A	CEP63	Single nucleotide variant (splice acceptor variant)	Seckel syndrome 6	GConflicting classifications of pathogenicity
Select item 35517	NM_001353108.3(CEP63):c.129G>A (p.Trp43Ter)	CEP63 (W43* +2 more)	Single nucleotide variant (nonsense +2 more)	Seckel syndrome 6	GPathogenic