12507[HGNC] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 57769	GRCh38/hg38 3p22.3-22.2(chr3:32322382-36775606)x1	ARPP21, ARPP21-AS1 +87 more	Copy number loss	See cases	GPathogenic
Select item 57770	GRCh38/hg38 3p22.3-22.2(chr3:33062199-36829440)x1	ARPP21, ARPP21-AS1 +54 more	Copy number loss	See cases	GPathogenic
Select item 2406061	NM_014517.5(UBP1):c.1499G>T (p.Gly500Val)	FBXL2, UBP1 (G464V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330654	NM_014517.5(UBP1):c.1468C>A (p.Leu490Ile)	FBXL2, UBP1 (L490I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316643	NM_014517.5(UBP1):c.1363A>G (p.Ser455Gly)	FBXL2, UBP1 (S455G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2228551	NM_014517.5(UBP1):c.1323C>G (p.Ser441Arg)	FBXL2, UBP1 (S405R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392299	NM_014517.5(UBP1):c.1306C>T (p.Arg436Trp)	FBXL2, UBP1 (R436W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549835	NM_014517.5(UBP1):c.1105A>G (p.Thr369Ala)	FBXL2, UBP1 (T369A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545066	NM_014517.5(UBP1):c.1081G>A (p.Gly361Ser)	FBXL2, UBP1 (G325S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3185707	NM_014517.5(UBP1):c.1052A>G (p.His351Arg)	FBXL2, UBP1 (H315R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185710	NM_014517.5(UBP1):c.998C>T (p.Ser333Phe)	FBXL2, UBP1 (S297F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185709	NM_014517.5(UBP1):c.997T>C (p.Ser333Pro)	FBXL2, UBP1 (S297P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373656	NM_014517.5(UBP1):c.979C>A (p.Pro327Thr)	FBXL2, UBP1 (P291T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2381589	NM_014517.5(UBP1):c.808A>G (p.Ile270Val)	FBXL2, UBP1 (I270V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280770	NM_014517.5(UBP1):c.698A>G (p.Lys233Arg)	FBXL2, UBP1 (K233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512249	NM_014517.5(UBP1):c.479C>G (p.Thr160Arg)	FBXL2, UBP1 (T160R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480563	NM_014517.5(UBP1):c.452T>C (p.Ile151Thr)	FBXL2, UBP1 (I151T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324196	NM_014517.5(UBP1):c.296A>T (p.Asn99Ile)	FBXL2, UBP1 (N99I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517466	NM_014517.5(UBP1):c.188C>G (p.Pro63Arg)	UBP1 (P63R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366781	NM_014517.5(UBP1):c.67C>T (p.Leu23Phe)	UBP1 (L23F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360753	NM_014517.5(UBP1):c.37T>G (p.Ser13Ala)	UBP1 (S13A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685913	GRCh37/hg19 3p22.3(chr3:32324460-33982773)x3	CCR4, CLASP2 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1527006	GRCh37/hg19 3p22.3(chr3:32699328-35286114)	CCR4, CLASP2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	ACAA1, ACVR2B +93 more	Deletion	not provided	GPathogenic
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic
Select item 253599	GRCh37/hg19 3p24.1-22.3(chr3:29689082-34233218)x1	CCR4, CLASP2 +20 more	Copy number loss	See cases	GPathogenic

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Items: 36