KIF3B[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 146032	GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3	LOC121627902, LOC121853002 +160 more	Copy number gain	See cases	GPathogenic
Select item 145102	GRCh38/hg38 20q11.21(chr20:31254983-32575288)x3	ABALON, ASXL1 +104 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
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 3114892	NM_004798.4(KIF3B):c.1825G>A (p.Glu609Lys)	KIF3B, LOC126863013 (E609K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595966	NM_004798.4(KIF3B):c.1849A>T (p.Ile617Leu)	KIF3B, LOC126863013 (I617L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
Select item 3062405	GRCh37/hg19 20q11.21(chr20:29917837-31886619)x3	BPIFB1, BPIFB2 +37 more	Copy number gain	not specified	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526690	GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	ACSS2, ACTL10 +71 more	Copy number gain	not specified	GPathogenic
Select item 1526688	GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)	ABHD12, ACSS1 +50 more	Copy number gain	not specified	GLikely pathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 832109	NC_000020.10:g.(?_30795725)_(31395729_?)dup	POFUT1, KIF3B +5 more	Duplication	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GUncertain significance
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 560101	Single allele	CST11, CST2 +89 more	Duplication	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CD93, PDRG1 +89 more	Copy number gain	See cases	GPathogenic

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Items: 49