"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "KIF23"[gen - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 720141	NM_001367805.3(KIF23):c.143A>G (p.Asn48Ser)	KIF23 (N48S)	Single nucleotide variant (5 prime UTR variant +2 more)	KIF23-related condition +1 more	GBenign/Likely benign
Select item 1325939	NM_001367805.3(KIF23):c.213T>C (p.Thr71=)	KIF23 (L7P)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 774916	NM_001367805.3(KIF23):c.293A>G (p.Asn98Ser)	KIF23 (N98S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 726646	NM_001367805.3(KIF23):c.690A>G (p.Ile230Met)	KIF23 (I120M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 717526	NM_001367805.3(KIF23):c.699A>G (p.Leu233=)	KIF23	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2645494	NM_001367805.3(KIF23):c.1119T>C (p.Asn373=)	KIF23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2645495	NM_001367805.3(KIF23):c.1489T>C (p.Cys497Arg)	KIF23 (C373R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2054804	NM_001367805.3(KIF23):c.2323G>A (p.Val775Met)	KIF23 (V651M +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 782006	NM_001367805.3(KIF23):c.2643C>T (p.Ser881=)	KIF23	Single nucleotide variant (synonymous variant +2 more)	KIF23-related condition +1 more	GBenign/Likely benign
Select item 748028	NM_001367805.3(KIF23):c.2907C>T (p.Pro969=)	KIF23	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	ISLR2, MESD +209 more	Copy number gain	not provided	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic