FBXO9[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic
Select item 145584	GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1	BAG2, BEND6 +171 more	Copy number loss	See cases	GPathogenic
Select item 147999	GRCh38/hg38 6p12.3-12.1(chr6:51093754-53859634)x4	CILK1, EFHC1 +119 more	Copy number gain	See cases	GPathogenic
Select item 3093814	NM_033480.3(FBXO9):c.4-6C>G	FBXO9 (P10A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241001	NM_033480.3(FBXO9):c.77A>C (p.Glu26Ala)	FBXO9 (E36A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252299	NM_033480.3(FBXO9):c.124T>G (p.Phe42Val)	FBXO9 (F52V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278214	NM_033480.3(FBXO9):c.169C>A (p.Pro57Thr)	FBXO9 (P23T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265375	NM_033480.3(FBXO9):c.191C>T (p.Ser64Phe)	FBXO9 (S30F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204178	NM_033480.3(FBXO9):c.254G>A (p.Arg85Gln)	FBXO9 (R85Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536955	NM_033480.3(FBXO9):c.350T>C (p.Ile117Thr)	FBXO9 (I83T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093815	NM_033480.3(FBXO9):c.394G>A (p.Val132Ile)	FBXO9 (V132I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385798	NM_033480.3(FBXO9):c.455A>G (p.Tyr152Cys)	FBXO9 (Y118C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093816	NM_033480.3(FBXO9):c.505C>T (p.Pro169Ser)	FBXO9 (P135S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533760	NM_033480.3(FBXO9):c.586A>C (p.Ser196Arg)	FBXO9 (S162R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093817	NM_033480.3(FBXO9):c.671G>A (p.Arg224His)	FBXO9 (R224H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216694	NM_033480.3(FBXO9):c.758G>A (p.Arg253His)	FBXO9 (R219H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093813	NM_033480.3(FBXO9):c.1065C>G (p.Asp355Glu)	FBXO9 (D355E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296172	NM_033480.3(FBXO9):c.1210A>G (p.Thr404Ala)	FBXO9 (T414A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685203	GRCh37/hg19 6p12.3-12.1(chr6:50181657-55538355)x1	CILK1, EFHC1 +30 more	Copy number loss	not provided	GPathogenic
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 983177	GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1	TFAP2D, TINAG +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 979547	GRCh37/hg19 6p12.2-12.1(chr6:52657712-53622715)x3	CILK1, ELOVL5 +9 more	Copy number gain	not provided	GUncertain significance
Select item 814813	GRCh37/hg19 6p12.2-12.1(chr6:52810337-53016306)x3	RN7SK, CILK1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 26