"Baylor Genetics"[submitter] AND "KANK1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582361	NM_015158.5(KANK1):c.271T>A (p.Ser91Thr)	KANK1 (S91T)	Single nucleotide variant (missense variant +2 more)	Cerebral palsy, spastic quadriplegic, 2	GUncertain significance
Select item 1027945	NM_015158.5(KANK1):c.1086G>C (p.Gln362His)	KANK1 (Q362H +1 more)	Single nucleotide variant (missense variant +1 more)	Cerebral palsy, spastic quadriplegic, 2 +1 more	GUncertain significance
Select item 1033737	NM_015158.5(KANK1):c.2020A>G (p.Ser674Gly)	KANK1 (S674G +1 more)	Single nucleotide variant (missense variant +1 more)	Cerebral palsy, spastic quadriplegic, 2	GUncertain significance
Select item 1033738	NM_015158.5(KANK1):c.2683C>A (p.Leu895Met)	KANK1 (L737M +1 more)	Single nucleotide variant (missense variant +1 more)	Cerebral palsy, spastic quadriplegic, 2 +1 more	GUncertain significance
Select item 1033739	NM_015158.5(KANK1):c.3709del (p.Ala1237fs)	KANK1 (A1079fs +6 more)	Deletion (frameshift variant +1 more)	Cerebral palsy, spastic quadriplegic, 2 +1 more	GUncertain significance
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	ACER2, ACO1 +195 more	Copy number gain	not provided	GPathogenic

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