FBXO21[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 58231	GRCh38/hg38 12q24.21-24.22(chr12:116028938-117300100)x3	FBXO21, FBXW8 +61 more	Copy number gain	See cases	GUncertain significance
Select item 3093611	NM_015002.3(FBXO21):c.1852A>C (p.Asn618His)	FBXO21 (N618H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614969	NM_015002.3(FBXO21):c.1664A>G (p.Tyr555Cys)	FBXO21 (Y555C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604942	NM_015002.3(FBXO21):c.1639C>G (p.Leu547Val)	FBXO21 (L554V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278103	NM_015002.3(FBXO21):c.1553C>A (p.Pro518His)	FBXO21 (P518H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271123	NM_015002.3(FBXO21):c.1366G>A (p.Gly456Arg)	FBXO21 (G456R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336164	NM_015002.3(FBXO21):c.1164G>T (p.Met388Ile)	FBXO21 (M388I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359466	NM_015002.3(FBXO21):c.1139A>G (p.Asn380Ser)	FBXO21 (N380S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278105	NM_015002.3(FBXO21):c.1090G>A (p.Glu364Lys)	FBXO21 (E364K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093616	NM_015002.3(FBXO21):c.968A>G (p.Asn323Ser)	FBXO21 (N323S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459850	NM_015002.3(FBXO21):c.929C>G (p.Thr310Arg)	FBXO21 (T310R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093615	NM_015002.3(FBXO21):c.851A>C (p.Asn284Thr)	FBXO21 (N284T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386192	NM_015002.3(FBXO21):c.774G>C (p.Gln258His)	FBXO21 (Q258H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513022	NM_015002.3(FBXO21):c.721A>G (p.Ser241Gly)	FBXO21 (S241G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278102	NM_015002.3(FBXO21):c.673G>A (p.Val225Met)	FBXO21 (V225M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278104	NM_015002.3(FBXO21):c.668G>T (p.Ser223Ile)	FBXO21 (S223I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093613	NM_015002.3(FBXO21):c.458A>G (p.Asn153Ser)	FBXO21 (N153S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278101	NM_015002.3(FBXO21):c.284A>G (p.Asn95Ser)	FBXO21 (N95S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408741	NM_015002.3(FBXO21):c.232C>G (p.Arg78Gly)	FBXO21 (R78G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777430	NM_015002.3(FBXO21):c.144G>C (p.Thr48=)	FBXO21	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2246057	NM_015002.3(FBXO21):c.96C>A (p.Asn32Lys)	FBXO21 (N32K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347724	NM_015002.3(FBXO21):c.95A>G (p.Asn32Ser)	FBXO21 (N32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339813	NM_015002.3(FBXO21):c.86G>T (p.Cys29Phe)	FBXO21 (C29F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093614	NM_015002.3(FBXO21):c.79C>T (p.Leu27Phe)	FBXO21 (L27F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304543	NM_015002.3(FBXO21):c.44C>T (p.Ala15Val)	FBXO21 (A15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093612	NM_015002.3(FBXO21):c.41C>T (p.Pro14Leu)	FBXO21 (P14L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618464	NM_015002.3(FBXO21):c.40C>T (p.Pro14Ser)	FBXO21 (P14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337383	NM_015002.3(FBXO21):c.22A>T (p.Ser8Cys)	FBXO21 (S8C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213265	NM_015002.3(FBXO21):c.22A>G (p.Ser8Gly)	FBXO21 (S8G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468727	NM_015002.3(FBXO21):c.20A>G (p.Asp7Gly)	FBXO21 (D7G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409140	NM_015002.3(FBXO21):c.8C>T (p.Ala3Val)	FBXO21 (A3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063271	GRCh37/hg19 12q24.21-24.23(chr12:116718608-120115397)x1	CCDC60, FBXO21 +18 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685457	GRCh37/hg19 12q24.21-24.23(chr12:116499832-118681240)x1	FBXO21, FBXW8 +13 more	Copy number loss	not provided	GPathogenic
Select item 1808305	GRCh37/hg19 12q24.21-24.22(chr12:116422123-117740952)x3	FBXO21, FBXW8 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 980457	GRCh37/hg19 12q24.22(chr12:117327155-117693543)x3	FBXO21, NOS1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815560	GRCh37/hg19 12q24.22(chr12:117147027-117705774)x4	FBXO21, SPRING1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 815556	GRCh37/hg19 12q24.21-24.22(chr12:116416809-117740952)x3	MAP1LC3B2, TESC +7 more	Copy number gain	not provided	GUncertain significance
Select item 686465	GRCh37/hg19 12q24.21-24.23(chr12:116718607-119728623)x1	FBXO21, FBXW8 +15 more	Copy number loss	not provided	GUncertain significance
Select item 563968	GRCh37/hg19 12q24.22-24.23(chr12:117104335-118209153)x1	NOS1, TESC +6 more	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441656	GRCh37/hg19 12q24.21-24.22(chr12:116421601-117740952)x3	FBXO21, FBXW8 +7 more	Copy number gain	See cases	GUncertain significance
Select item 395069	GRCh37/hg19 12q24.21-24.23(chr12:116028864-118791808)x1	FBXO21, FBXW8 +13 more	Copy number loss	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 48