"PreventionGenetics, part of Exact Sciences"[submitter] AND "EPHA3"[ge - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3057804	NM_005233.6(EPHA3):c.72G>T (p.Pro24=)	EPHA3	Single nucleotide variant (synonymous variant)	EPHA3-related disorder	GLikely benign
Select item 740302	NM_005233.6(EPHA3):c.744C>T (p.Gly248=)	EPHA3	Single nucleotide variant (synonymous variant)	EPHA3-related disorder +1 more	GBenign
Select item 3059008	NM_005233.6(EPHA3):c.841T>C (p.Leu281=)	EPHA3	Single nucleotide variant (synonymous variant)	EPHA3-related disorder	GLikely benign
Select item 3051553	NM_005233.6(EPHA3):c.892G>C (p.Glu298Gln)	EPHA3 (E298Q)	Single nucleotide variant (missense variant)	EPHA3-related disorder	GLikely benign
Select item 2653989	NM_005233.6(EPHA3):c.1281G>A (p.Ala427=)	EPHA3	Single nucleotide variant (synonymous variant)	EPHA3-related disorder +1 more	GBenign/Likely benign
Select item 3042863	NM_005233.6(EPHA3):c.1432-7C>T	EPHA3	Single nucleotide variant (intron variant)	EPHA3-related disorder	GLikely benign
Select item 717834	NM_005233.6(EPHA3):c.1626G>A (p.Val542=)	EPHA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3058030	NM_005233.6(EPHA3):c.1944T>C (p.Ile648=)	EPHA3	Single nucleotide variant (synonymous variant)	EPHA3-related disorder	GLikely benign
Select item 3049991	NM_005233.6(EPHA3):c.2138A>C (p.Lys713Thr)	EPHA3 (K713T)	Single nucleotide variant (missense variant)	EPHA3-related disorder	GLikely benign
Select item 3056783	NM_005233.6(EPHA3):c.2400G>A (p.Lys800=)	EPHA3	Single nucleotide variant (synonymous variant)	EPHA3-related disorder	GBenign
Select item 3040979	NM_005233.6(EPHA3):c.2402T>A (p.Phe801Tyr)	EPHA3 (F801Y)	Single nucleotide variant (missense variant)	EPHA3-related disorder	GLikely benign
Select item 3035334	NM_005233.6(EPHA3):c.2649G>A (p.Arg883=)	EPHA3	Single nucleotide variant (synonymous variant)	EPHA3-related disorder	GLikely benign
Select item 730083	NM_005233.6(EPHA3):c.2685C>T (p.Ala895=)	EPHA3	Single nucleotide variant (synonymous variant)	EPHA3-related disorder +1 more	GBenign
Select item 3038386	NM_005233.6(EPHA3):c.2721T>C (p.Asn907=)	EPHA3	Single nucleotide variant (synonymous variant)	EPHA3-related disorder	GBenign
Select item 3055487	NM_005233.6(EPHA3):c.2802T>C (p.Gly934=)	EPHA3	Single nucleotide variant (synonymous variant +1 more)	EPHA3-related disorder	GBenign