"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CKMT1A"[ge - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2645279	NM_001321926.2(CKMT1A):c.1056G>A (p.Lys352=)	CKMT1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2645280	NM_001321926.2(CKMT1A):c.1209C>G (p.Gly403=)	CKMT1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3024593	GRCh37/hg19 15q15.3(chr15:43988438-44216507)x3	CKMT1A, ELL3 +7 more	Copy number gain	not provided	GUncertain significance

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