Related gene-specific medical variations for Gene (Select 3799) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3114955	NM_004521.3(KIF5B):c.52C>T (p.Leu18Phe)	KIF5B, LOC130003643 (L18F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114952	NM_004521.3(KIF5B):c.2497T>A (p.Ser833Thr)	KIF5B, LOC126860907 (S833T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483200	NM_004521.3(KIF5B):c.156C>G (p.Phe52Leu)	KIF5B, LOC126860908 (F52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1691098	NM_004521.3(KIF5B):c.1493T>C (p.Leu498Pro)	KIF5B (L498P)	Single nucleotide variant (missense variant)	Feeding difficulties +3 more	GPathogenic
Select item 1691097	NM_004521.3(KIF5B):c.1610T>C (p.Leu537Pro)	KIF5B (L537P)	Single nucleotide variant (missense variant)	Seizure +5 more	GPathogenic
Select item 716540	NM_004521.3(KIF5B):c.2475C>T (p.Ser825=)	KIF5B, LOC126860907	Single nucleotide variant (synonymous variant)	not provided	GBenign

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