POLR2J2-UPK3BL1[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 57092	GRCh38/hg38 7q22.1-22.3(chr7:101525795-105432462)x3	ALKBH4, ARMC10 +149 more	Copy number gain	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 154898	GRCh38/hg38 7q22.1(chr7:102514724-102643741)x3	LOC102724187, POLR2J2-UPK3BL1 +7 more	Copy number gain	See cases	GLikely benign
Select item 150163	GRCh38/hg38 7q22.1(chr7:102514724-102692431)x3	LOC102724187, POLR2J2 +9 more	Copy number gain	See cases	GLikely benign
Select item 3186837	NM_001114403.3(UPK3BL1):c.752C>T (p.Thr251Met)	POLR2J2-UPK3BL1, UPK3BL1 (T251M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186836	NM_001114403.3(UPK3BL1):c.685T>G (p.Phe229Val)	POLR2J2-UPK3BL1, UPK3BL1 (F229V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186835	NM_001114403.3(UPK3BL1):c.673A>C (p.Ile225Leu)	POLR2J2-UPK3BL1, UPK3BL1 (I225L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186834	NM_001114403.3(UPK3BL1):c.670C>T (p.Leu224Phe)	POLR2J2-UPK3BL1, UPK3BL1 (L224F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186833	NM_001114403.3(UPK3BL1):c.643G>A (p.Val215Ile)	POLR2J2-UPK3BL1, UPK3BL1 (V215I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186832	NM_001114403.3(UPK3BL1):c.641C>T (p.Ala214Val)	POLR2J2-UPK3BL1, UPK3BL1 (A214V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186831	NM_001114403.3(UPK3BL1):c.575G>A (p.Arg192Gln)	POLR2J2-UPK3BL1, UPK3BL1 (R192Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3186830	NM_001114403.3(UPK3BL1):c.551G>C (p.Arg184Pro)	POLR2J2-UPK3BL1, UPK3BL1 (R184P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186829	NM_001114403.3(UPK3BL1):c.544G>A (p.Asp182Asn)	POLR2J2-UPK3BL1, UPK3BL1 (D182N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463443	NM_001114403.3(UPK3BL1):c.191C>T (p.Thr64Met)	POLR2J2-UPK3BL1, UPK3BL1 (T64M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2345388	NM_001166339.2(SPDYE2B):c.259G>A (p.Ala87Thr)	POLR2J2-UPK3BL1, SPDYE2B (A87T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2673123	NM_001166339.2(SPDYE2B):c.321G>A (p.Lys107=)	POLR2J2-UPK3BL1, SPDYE2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2227209	NM_001166339.2(SPDYE2B):c.434T>C (p.Met145Thr)	POLR2J2-UPK3BL1, SPDYE2B (M1T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2261923	NM_001166339.2(SPDYE2B):c.699C>G (p.Phe233Leu)	POLR2J2-UPK3BL1, SPDYE2B (F233L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216542	NM_032959.7(POLR2J2):c.102C>G (p.Ile34Met)	POLR2J2, POLR2J2-UPK3BL1 (I34M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3216543	NM_032959.7(POLR2J2):c.10C>T (p.Pro4Ser)	POLR2J2, POLR2J2-UPK3BL1 (P4S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3216545	NM_032959.7(POLR2J2):c.8C>T (p.Ala3Val)	POLR2J2, POLR2J2-UPK3BL1 (A3V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3216544	NM_032959.7(POLR2J2):c.5A>G (p.Asn2Ser)	POLR2J2, POLR2J2-UPK3BL1 (N2S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 25