Related gene-specific medical variations for Gene (Select 11133) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3116210	NM_007059.4(KPTN):c.4A>G (p.Met2Val)	KPTN, LOC130064810 (M2V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068042	NM_007059.4(KPTN):c.877dup (p.Arg293fs)	KPTN (R237fs +1 more)	Duplication (frameshift variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 2720623	NM_007059.4(KPTN):c.6G>A (p.Met2Ile)	KPTN, LOC130064810 (M2I)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome +1 more	GUncertain significance
Select item 2442031	NM_007059.4(KPTN):c.103G>T (p.Ala35Ser)	KPTN (A35S)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 2226300	NM_007059.4(KPTN):c.11A>C (p.Glu4Ala)	KPTN, LOC130064810 (E4A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 987326	NM_007059.4(KPTN):c.692del (p.Val231fs)	KPTN (V175fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 499656	NM_007059.4(KPTN):c.7G>A (p.Gly3Arg)	KPTN, LOC130064810 (G3R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance

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