"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "MELK"[g - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 779255	NM_014791.4(MELK):c.77A>G (p.Lys26Arg)	MELK (K26R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 752487	NM_014791.4(MELK):c.366T>C (p.Tyr122=)	MELK	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 753479	NM_014791.4(MELK):c.793C>T (p.Gln265Ter)	MELK (Q71* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 728089	NM_014791.4(MELK):c.859G>A (p.Val287Ile)	MELK (V156I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 776419	NM_014791.4(MELK):c.998G>A (p.Arg333Lys)	MELK (R139K +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 783546	NM_014791.4(MELK):c.1043C>T (p.Thr348Ile)	MELK (T268I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 783547	NM_014791.4(MELK):c.1083C>T (p.Thr361=)	MELK	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 768293	NM_014791.4(MELK):c.1218A>G (p.Lys406=)	MELK	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 790069	NM_014791.4(MELK):c.1619T>C (p.Val540Ala)	MELK (V460A +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3245076	NC_000009.11:g.(?_33436037)_(37436779_?)del	ANKRD18B, AQP3 +66 more	Deletion	Spastic paraplegia	GPathogenic
Select item 2422485	NC_000009.11:g.(?_32453279)_(37785041_?)dup	ANKRD18B, APTX +87 more	Duplication	not provided	GUncertain significance