"GeneDx"[submitter] AND "KPTN"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60103	GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1	AP2S1, ARHGAP35 +123 more	Copy number loss	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
Select item 1179592	NM_007059.4(KPTN):c.*2C>T	KPTN	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 474856	NM_007059.4(KPTN):c.1245G>A (p.Arg415=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 620486	NM_007059.4(KPTN):c.1225C>T (p.Arg409Ter)	KPTN (R409* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 452093	NM_007059.4(KPTN):c.863+5G>A	KPTN	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1206726	NM_007059.4(KPTN):c.773_780del (p.Leu258fs)	KPTN (L202fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 100679	NM_007059.4(KPTN):c.776C>A (p.Ser259Ter)	KPTN (S259* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 100680	NM_007059.4(KPTN):c.714_731dup (p.Gln246_Asp247insMetTrpSerValLeuGln)	KPTN	Duplication (inframe_insertion +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1695610	NM_007059.4(KPTN):c.643C>T (p.Arg215Cys)	KPTN (R159C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 279826	NM_007059.4(KPTN):c.597_598dup (p.Ser200fs)	KPTN (S200fs +1 more)	Duplication (frameshift variant)	Macrocephaly-developmental delay syndrome +2 more	GPathogenic/Likely pathogenic
Select item 474857	NM_007059.4(KPTN):c.504G>A (p.Pro168=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1710632	NM_007059.4(KPTN):c.494G>C (p.Gly165Ala)	KPTN (G109A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 803569	NM_007059.4(KPTN):c.428C>T (p.Pro143Leu)	KPTN (P143L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 499654	NM_007059.4(KPTN):c.394+1G>A	KPTN	Single nucleotide variant (intron variant +1 more)	Macrocephaly-developmental delay syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2497857	NM_007059.4(KPTN):c.301T>G (p.Phe101Val)	KPTN (F101V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1248024	NM_007059.4(KPTN):c.227-83T>C	KPTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213440	NM_007059.4(KPTN):c.184dup (p.Ile62fs)	KPTN (I62fs)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic