KIF3B[gene] and "single gene"[properties] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2325067	NM_004798.4(KIF3B):c.49C>T (p.Arg17Trp)	KIF3B (R17W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535661	NM_004798.4(KIF3B):c.57G>C (p.Met19Ile)	KIF3B (M19I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114891	NM_004798.4(KIF3B):c.146C>A (p.Thr49Lys)	KIF3B (T49K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516512	NM_004798.4(KIF3B):c.146C>T (p.Thr49Met)	KIF3B (T49M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514647	NM_004798.4(KIF3B):c.160C>T (p.Pro54Ser)	KIF3B (P54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401613	NM_004798.4(KIF3B):c.329G>A (p.Arg110His)	KIF3B (R110H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114896	NM_004798.4(KIF3B):c.551C>T (p.Thr184Ile)	KIF3B (T184I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114897	NM_004798.4(KIF3B):c.587T>C (p.Val196Ala)	KIF3B (V196A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630638	NM_004798.4(KIF3B):c.622A>G (p.Met208Val)	KIF3B (M208V)	Single nucleotide variant (missense variant)	KIF3B-related disorder	GUncertain significance
Select item 2410736	NM_004798.4(KIF3B):c.679G>A (p.Glu227Lys)	KIF3B (E227K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 973171	NM_004798.4(KIF3B):c.748G>C (p.Glu250Gln)	KIF3B (E250Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 89	GPathogenic
Select item 3114898	NM_004798.4(KIF3B):c.752G>A (p.Arg251Gln)	KIF3B (R251Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284589	NM_004798.4(KIF3B):c.818C>T (p.Ser273Phe)	KIF3B (S273F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529267	NM_004798.4(KIF3B):c.898C>A (p.Leu300Ile)	KIF3B (L300I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 830043	NM_004798.4(KIF3B):c.1032A>T (p.Pro344=)	KIF3B	Single nucleotide variant (synonymous variant)	Oligospermia	Gassociation
Select item 3114890	NM_004798.4(KIF3B):c.1133A>G (p.Lys378Arg)	KIF3B (K378R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283687	NM_004798.4(KIF3B):c.1222G>A (p.Asp408Asn)	KIF3B (D408N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060641	NM_004798.4(KIF3B):c.1245G>A (p.Arg415=)	KIF3B	Single nucleotide variant (synonymous variant)	KIF3B-related disorder	GLikely benign
Select item 2288526	NM_004798.4(KIF3B):c.1319T>G (p.Met440Arg)	KIF3B (M440R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769086	NM_004798.4(KIF3B):c.1413G>A (p.Glu471=)	KIF3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2578447	NM_004798.4(KIF3B):c.1481del (p.Gln494fs)	KIF3B (Q494fs)	Deletion (frameshift variant)	Retinitis pigmentosa 89	GLikely benign
Select item 1423600	NM_004798.4(KIF3B):c.1565A>G (p.Glu522Gly)	KIF3B (E522G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 973172	NM_004798.4(KIF3B):c.1568T>C (p.Leu523Pro)	KIF3B (L523P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 89	GPathogenic
Select item 3114893	NM_004798.4(KIF3B):c.1933A>G (p.Met645Val)	KIF3B (M645V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114894	NM_004798.4(KIF3B):c.1948C>T (p.Arg650Cys)	KIF3B (R650C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385334	NM_004798.4(KIF3B):c.2017A>G (p.Arg673Gly)	KIF3B (R673G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559960	NM_004798.4(KIF3B):c.2144C>T (p.Ala715Val)	KIF3B (A715V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114895	NM_004798.4(KIF3B):c.2168C>T (p.Ser723Leu)	KIF3B (S723L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530180	NM_004798.4(KIF3B):c.2224C>T (p.Arg742Trp)	KIF3B (R742W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550280	NM_004798.4(KIF3B):c.2225G>A (p.Arg742Gln)	KIF3B (R742Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 30