"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "KIF5C"[gen - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672827	NM_004522.3(KIF5C):c.37T>C (p.Cys13Arg)	KIF5C (C13R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1176744	NM_004522.3(KIF5C):c.108T>C (p.Asp36=)	KIF5C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 808816	NM_004522.3(KIF5C):c.576C>T (p.His192=)	KIF5C	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 140740	NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys)	KIF5C (E237K)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 2 +1 more	GPathogenic/Likely pathogenic
Select item 3067305	NM_004522.3(KIF5C):c.1038T>C (p.Tyr346=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 871538	NM_004522.3(KIF5C):c.1320G>A (p.Gln440=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	KIF5C-related condition +1 more	GLikely benign
Select item 390542	NM_004522.3(KIF5C):c.1781T>C (p.Met594Thr)	KIF5C (M594T)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1675796	NM_004522.3(KIF5C):c.1984G>C (p.Asp662His)	KIF5C (D662H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 808817	NM_004522.3(KIF5C):c.2073G>A (p.Thr691=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2651418	NM_004522.3(KIF5C):c.2263A>G (p.Lys755Glu)	KIF5C (K755E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 808818	NM_004522.3(KIF5C):c.2640G>A (p.Glu880=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1711507	NM_004522.3(KIF5C):c.2675G>A (p.Arg892Gln)	KIF5C (R892Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2651419	NM_004522.3(KIF5C):c.2687G>A (p.Arg896His)	KIF5C (R896H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 511237	NM_004522.3(KIF5C):c.2728G>T (p.Ala910Ser)	KIF5C (A910S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely benign
Select item 871539	NM_004522.3(KIF5C):c.2731A>G (p.Lys911Glu)	KIF5C (K911E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 449278	NM_004522.3(KIF5C):c.2779C>T (p.Arg927Cys)	KIF5C (R927C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 808819	NM_004522.3(KIF5C):c.2789A>G (p.His930Arg)	KIF5C (H930R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 378056	NM_004522.3(KIF5C):c.2863T>C (p.Tyr955His)	KIF5C (Y955H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign