Related gene-specific medical variations for Gene (Select 26153) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362589	NM_015656.2(KIF26A):c.3330del (p.Ser1111fs)	KIF26A (S1111fs)	Deletion (frameshift variant)	Cortical dysplasia, complex, with other brain malformations 11	GLikely pathogenic
Select item 3361743	NM_015656.2(KIF26A):c.4649G>A (p.Arg1550Gln)	KIF26A (R1550Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361742	NM_015656.2(KIF26A):c.116G>A (p.Gly39Glu)	KIF26A (G39E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360432	NM_015656.2(KIF26A):c.5282G>A (p.Arg1761Gln)	KIF26A (R1761Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3064895	NM_015656.2(KIF26A):c.4979_4980del (p.Gly1659_Tyr1660insTer)	KIF26A	Deletion (nonsense)	Cortical dysplasia, complex, with other brain malformations 11	GLikely pathogenic
Select item 2671916	NM_015656.2(KIF26A):c.3335C>T (p.Ser1112Phe)	KIF26A (S1112F)	Single nucleotide variant (missense variant)	Cortical dysplasia, complex, with other brain malformations 11	GUncertain significance
Select item 428592	NM_015656.2(KIF26A):c.4925C>T (p.Pro1642Leu)	KIF26A (P1642L)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 428591	NM_015656.2(KIF26A):c.1381del (p.Ala461fs)	KIF26A (A461fs)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant