"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "KIF2A"[gen - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 435641	NM_001098511.3(KIF2A):c.48G>A (p.Glu16=)	KIF2A, LOC129993961	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1437862	NM_001098511.3(KIF2A):c.558+4C>T	KIF2A	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 3026951	NM_001098511.3(KIF2A):c.665A>G (p.His222Arg)	KIF2A (H195R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335581	NM_001098511.3(KIF2A):c.858T>G (p.Asn286Lys)	KIF2A (N259K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026137	NM_001098511.3(KIF2A):c.999T>C (p.Asp333=)	KIF2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1695129	NM_001098511.3(KIF2A):c.1217G>A (p.Cys406Tyr)	KIF2A (C379Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655487	NM_001098511.3(KIF2A):c.1467+90C>T	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3067764	NM_001098511.3(KIF2A):c.1796G>A (p.Gly599Asp)	KIF2A (G534D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655488	NM_001098511.3(KIF2A):c.2225G>A (p.Arg742His)	KIF2A (R677H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance