UPK3BL1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 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	POLR2J2-UPK3BL1, POLR2J3 +6 more	Copy number gain	See cases	GLikely benign
Select item 150163	GRCh38/hg38 7q22.1(chr7:102514724-102692431)x3	POLR2J2, POLR2J2-UPK3BL1 +8 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 3331161	NM_001114403.3(UPK3BL1):c.749C>A (p.Thr250Asn)	POLR2J2-UPK3BL1, UPK3BL1 (T250N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 2685259	GRCh37/hg19 7q22.1(chr7:102138955-102744237)x1	NFE4, POLR2J2 +11 more	Copy number loss	not provided	GUncertain significance
Select item 1808822	GRCh37/hg19 7q22.1(chr7:102101275-102406667)x1	ALKBH4, FAM185A +9 more	Copy number loss	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 929826	GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1	ACHE, ACTL6B +77 more	Copy number loss	See cases	GLikely pathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563415	GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1	CYP3A43, GJC3 +99 more	Copy number loss	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 32