"GeneDx"[submitter] AND "KIF5B"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372116	NM_004521.3(KIF5B):c.2882A>G (p.Lys961Arg)	KIF5B (K961R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342671	NM_004521.3(KIF5B):c.2565T>A (p.Asp855Glu)	KIF5B (D855E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377830	NM_004521.3(KIF5B):c.2527A>G (p.Thr843Ala)	KIF5B, LOC126860907 (T843A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365624	NM_004521.3(KIF5B):c.2095C>T (p.Gln699Ter)	KIF5B (Q699*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3343227	NM_004521.3(KIF5B):c.2032+1delinsTT	KIF5B	Indel (splice donor variant)	not provided	GUncertain significance
Select item 3342647	NM_004521.3(KIF5B):c.1829A>G (p.Gln610Arg)	KIF5B (Q610R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302449	NM_004521.3(KIF5B):c.1726-5T>C	KIF5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3363932	NM_004521.3(KIF5B):c.1669_1689del (p.Ser557_Ala563del)	KIF5B	Deletion	not provided	GUncertain significance
Select item 3370124	NM_004521.3(KIF5B):c.833G>A (p.Arg278Gln)	KIF5B (R278Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3342614	NM_004521.3(KIF5B):c.755A>C (p.Lys252Thr)	KIF5B (K252T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580234	NM_004521.3(KIF5B):c.260C>T (p.Thr87Ile)	KIF5B (T87I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360453	NM_004521.3(KIF5B):c.256C>A (p.Gln86Lys)	KIF5B (Q86K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359832	NM_004521.3(KIF5B):c.1260G>C (p.Lys420Asn)	KIF5B (K420N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance